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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

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CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

ALDH3A2,
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)

Genes at Clinical Genomics Database

ALDH3A2,
ALDH3A2 Sjogren-Larsson syndrome

Genes at HGMD

Summary

Number of Variants: 110
Number of Genes: 5

Export to: CSV

ALDH3A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_60.variant22 17 rs7216
dbSNP Clinvar
19578873 3800.31 A T PASS 0/1 70 SPLICE_SITE_REGION LOW None 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%

CCNB1IP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_60.variant22 14 rs1132644
dbSNP Clinvar
20784718 379.67 G T PASS 0/1 38 SPLICE_SITE_REGION LOW None 0.59565 0.59560 0.42880 0.06 0.00 None None None None None None CCNB1IP1|0.349909331|24.13%

RARRES2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_60.variant22 7 rs4721
dbSNP Clinvar
150035526 402.16 T G PASS 0/1 76 SPLICE_SITE_REGION LOW None 0.47863 0.47860 0.52 0.00 None None None None None None RARRES2|0.012877384|78.57%

TLR8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_60.variant22 X rs3764880
dbSNP Clinvar
12924826 1355.79 A G PASS 0/1 125 SPLICE_SITE_REGION LOW None 0.46384 0.46380 0.25343 0.32 0.00 None None None None None None TLR8|0.020704734|73.83%

TNS3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_60.variant22 7 rs11763044
dbSNP Clinvar
47481602 4716.31 G A PASS 0/1 171 SPLICE_SITE_REGION LOW None 0.34944 0.34940 0.04 0.61 None None None None None None TNS3|0.04703279|63.56%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_60.variant22 1 rs3738250
dbSNP Clinvar
200843305 3143.46 G T PASS 0/1 121 SPLICE_SITE_REGION LOW None 0.19349 0.19350 None None None None None None GPR25|0.015523137|76.79%
View combined sample_60.variant22 1 rs861019
dbSNP Clinvar
209975386 951.79 A G PASS 0/1 36 SPLICE_SITE_REGION LOW None 0.38638 0.38640 None None None None None None IRF6|0.957625071|2.03%
View combined sample_60.variant22 1 rs10802457
dbSNP Clinvar
247148627 5755.95 T G PASS 1/1 168 SPLICE_SITE_REGION LOW None 0.58926 0.58930 None None None None None None ZNF695|0.001291962|93.96%,ZNF670|0.001350095|93.59%
View combined sample_60.variant22 3 rs9831075
dbSNP Clinvar
25836023 4579.5 C T PASS 1/1 137 SPLICE_SITE_REGION LOW None 0.74101 0.74100 0.23543 None None None None None None OXSM|0.120851922|47.31%
View combined sample_60.variant22 3 . 27757867 999.34 CTT CT... PASS 0/1 100 SPLICE_SITE_REGION LOW None None None None None None None EOMES|0.479287595|16.79%
View combined sample_60.variant22 3 . 31699379 383.2 ATTT AT... PASS 0/5 56 SPLICE_SITE_REGION LOW None None None None None None None None
View combined sample_60.variant22 4 rs1757935
dbSNP Clinvar
130023759 1190.51 A T PASS 1/1 99 SPLICE_SITE_REGION LOW None 0.68271 0.68270 0.31301 None None None None None None C4orf33|0.075968961|56.1%
View combined sample_60.variant22 5 . 34908276 204.13 CTT CT... PASS 0/1 36 SPLICE_SITE_REGION LOW None None None None None None None RAD1|0.373509537|22.51%
View combined sample_60.variant22 5 rs878954473
dbSNP Clinvar
38940121 392.31 CT C,... PASS 0/2 161 SPLICE_SITE_REGION LOW None None None None None None None OSMR|0.004939826|85.88%,RICTOR|0.95955832|1.99%
View combined sample_60.variant22 5 . 75625889 3470.63 CAA CA,C PASS 0/1 300 SPLICE_SITE_REGION LOW None None None None None None None SV2C|0.207385482|35.87%
View combined sample_60.variant22 5 rs11436160,rs397804464
dbSNP Clinvar
122680580 3142.63 C CA PASS 0/1 196 SPLICE_SITE_REGION LOW None 0.69329 0.69330 None None None None None None CEP120|0.184727315|38.38%
View combined sample_60.variant22 7 rs763851119
dbSNP Clinvar
27868483 1209.22 TA TAA,T PASS 0/2 312 SPLICE_SITE_REGION LOW None None None None None None None TAX1BP1|0.571390846|12.91%
View combined sample_60.variant22 7 rs553882161
dbSNP Clinvar
94989255 366.57 CT C,CTT PASS 0/1 121 SPLICE_SITE_REGION LOW None 0.43510 0.43510 None None None None None None PON1|0.345425216|24.46%
View combined sample_60.variant22 8 rs62495369
dbSNP Clinvar
11872972 76.45 C G PASS 0/1 65 SPLICE_SITE_REGION LOW None None None None None None None None
View combined sample_60.variant22 8 rs60062081
dbSNP Clinvar
22477930 237.73 GTTT GT... PASS 0/1 29 SPLICE_SITE_REGION LOW None None None None None None None CCAR2|0.363674682|23.18%
View combined sample_60.variant22 8 . 42607762 275.53 GTT GT,G PASS 0/1 85 SPLICE_SITE_REGION LOW None None None None None None None None
View combined sample_60.variant22 9 rs11351544
dbSNP Clinvar
97365414 2861.31 CT C PASS 1/1 176 SPLICE_SITE_REGION LOW None 0.48662 0.48660 None None None None None None None
View combined sample_60.variant22 10 rs144109342,rs58763168
dbSNP Clinvar
11374574 518.8 CT... C PASS 1/1 34 SPLICE_SITE_REGION LOW None 0.84545 0.84540 None None None None None None CELF2|0.969616641|1.73%
View combined sample_60.variant22 10 rs11597439
dbSNP Clinvar
104184953 524.46 C G PASS 0/1 54 SPLICE_SITE_REGION LOW None 0.28435 0.28430 0.27606 None None None None None None CUEDC2|0.159087985|41.71%
View combined sample_60.variant22 11 rs11523504
dbSNP Clinvar
55861760 233.94 A G PASS 0/1 12 SPLICE_SITE_REGION LOW None 0.23103 0.23100 None None None None None None OR8I2|0.005200273|85.58%
View combined sample_60.variant22 12 rs8815
dbSNP Clinvar
7507726 1295.52 T G PASS 0/1 104 SPLICE_SITE_REGION LOW None 0.13618 0.13620 None None None None None None CD163L1|0.000596988|97.96%
View combined sample_60.variant22 12 rs3833503
dbSNP Clinvar
15066968 155.52 CT C PASS 1/1 19 SPLICE_SITE_REGION LOW None 0.66673 0.66670 None None None None None None None
View combined sample_60.variant22 13 rs10624110,rs397725477
dbSNP Clinvar
30077879 2039.73 G GA... PASS 1/1 64 SPLICE_SITE_REGION LOW None 0.13259 0.75540 None None None None None None MTUS2|0.119691601|47.5%
View combined sample_60.variant22 17 rs9904043
dbSNP Clinvar
27000391 478.5 A G PASS 1/1 46 SPLICE_SITE_REGION LOW None 0.77197 0.77200 0.25665 None None None None None None SUPT6H|0.667925783|9.44%
View combined sample_60.variant22 17 rs148658627,rs3217299
dbSNP Clinvar
62495733 391.24 C CT PASS 0/1 17 SPLICE_SITE_REGION LOW None 0.05272 0.05272 None None None None None None None
View combined sample_60.variant22 18 rs200181163
dbSNP Clinvar
29847462 4925.03 GTTT G,... PASS 0/3 248 SPLICE_SITE_REGION LOW None None None None None None None GAREM|0.233473449|33.05%
View combined sample_60.variant22 19 rs142990629,rs886054226
dbSNP Clinvar
1228412 5322.59 AA... A PASS 0/1 215 SPLICE_SITE_REGION LOW None 0.01438 0.01438 None None None None None None STK11|0.510936492|15.32%,C19orf26|0.024523264|72.02%
View combined sample_60.variant22 19 rs2292455
dbSNP Clinvar
1526613 718.55 C T PASS 1/1 56 SPLICE_SITE_REGION LOW None 0.31290 0.31290 None None None None None None PLK5|0.003429971|87.9%
View combined sample_60.variant22 19 rs2245519
dbSNP Clinvar
17513749 255.74 C A PASS 1/1 19 SPLICE_SITE_REGION LOW None 0.76558 0.76560 None None None None None None BST2|0.000364798|99.17%
View combined sample_60.variant22 19 rs780482928
dbSNP Clinvar
38229185 1497.95 GTTT GT... PASS 0/1 60 SPLICE_SITE_REGION LOW None None None None None None None ZNF573|0.003845296|87.25%
View combined sample_60.variant22 19 rs17712224
dbSNP Clinvar
44331594 1132.97 A C PASS 1/1 39 SPLICE_SITE_REGION LOW None 0.36022 0.36020 None None None None None None ZNF283|0.014136174|77.77%
View combined sample_60.variant22 19 rs1105561
dbSNP Clinvar
44669960 123.57 T C PASS 0/1 20 SPLICE_SITE_REGION LOW None 0.43870 0.43870 None None None None None None ZNF226|0.006646409|83.89%
View combined sample_60.variant22 19 rs2734453
dbSNP Clinvar
44930880 13978.5 G A PASS 0/1 382 SPLICE_SITE_REGION LOW None 0.88199 0.88200 None None None None None None ZNF229|0.00082353|96.52%
View combined sample_60.variant22 21 rs185407591
dbSNP Clinvar
40178042 883.2 A G PASS 1/1 59 SPLICE_SITE_REGION LOW None 0.16334 0.16330 None None None None None None ETS2|0.453014646|18.03%
View combined sample_60.variant22 21 rs190801053
dbSNP Clinvar
40178043 883.2 G C PASS 1/1 58 SPLICE_SITE_REGION LOW None 0.16314 0.16310 None None None None None None ETS2|0.453014646|18.03%
View combined sample_60.variant22 22 rs140147
dbSNP Clinvar
30184599 240.85 G A PASS 1/1 20 SPLICE_SITE_REGION LOW None 0.18371 0.18370 None None None None None None ASCC2|0.130819121|45.77%
View combined sample_60.variant22 22 . 31058017 521.56 AT AT... PASS 0/2 83 SPLICE_SITE_REGION LOW None None None None None None None SLC35E4|0.028084229|70.39%,DUSP18|0.042158302|65.04%
View combined sample_60.variant22 1 rs9326115
dbSNP Clinvar
75036783 3240.83 T C PASS 1/1 110 SPLICE_SITE_REGION LOW None 0.97504 0.97500 0.02768 None None None None None None ERICH3|0.0119525|79.27%
View combined sample_60.variant22 22 rs4838815
dbSNP Clinvar
50713409 142.88 A G PASS 0/1 31 SPLICE_SITE_REGION LOW None 0.46785 0.46790 None None None None None None PLXNB2|0.022289222|73.04%
View combined sample_60.variant22 1 rs724985
dbSNP Clinvar
160577890 229.75 T G PASS 1/1 19 SPLICE_SITE_REGION LOW None 0.78574 0.78570 None None None None None None SLAMF1|0.005855965|84.76%
View combined sample_60.variant22 1 rs2280273
dbSNP Clinvar
60358982 2768.01 T C PASS 0/1 211 SPLICE_SITE_REGION LOW None 0.14637 0.14640 None None None None None None CYP2J2|0.653116483|9.98%
View combined sample_60.variant22 1 rs141501473,rs200448045
dbSNP Clinvar
94333372 3243.07 G GT... PASS 2/2 207 SPLICE_SITE_REGION LOW None 0.06569 0.45630 None None None None None None None
View combined sample_60.variant22 1 rs4244184
dbSNP Clinvar
248486895 1268.48 G T PASS 1/1 153 SPLICE_SITE_REGION LOW None 0.82528 0.82530 0.22135 None None None None None None OR2M7|0.001481196|92.85%
View combined sample_60.variant22 6 rs9272990
dbSNP Clinvar
32611427 335.91 T A PASS 0/1 7 SPLICE_SITE_REGION LOW None 0.22604 0.22600 None None None None None None HLA-DQA1|0.015615991|76.72%
View combined sample_60.variant22 6 rs9368958
dbSNP Clinvar
36708556 1375.92 C G PASS 0/1 117 SPLICE_SITE_REGION LOW None 0.17672 0.17670 None None None None None None CPNE5|0.175375504|39.59%
View combined sample_60.variant22 7 rs12531290
dbSNP Clinvar
97846059 269.52 C T PASS 1/1 14 SPLICE_SITE_REGION LOW None 0.96066 0.96070 None None None None None None TECPR1|0.066129544|58.34%
View combined sample_60.variant22 7 rs2730219
dbSNP Clinvar
158738878 9280.58 A C PASS 1/1 263 SPLICE_SITE_REGION LOW None 0.44808 0.44810 None None None None None None WDR60|0.002501665|89.69%
View combined sample_60.variant22 8 rs28359502
dbSNP Clinvar
18074388 928.32 G T PASS 0/1 74 SPLICE_SITE_REGION LOW None 0.01358 0.01358 None None None None None None NAT1|0.059951478|59.87%
View combined sample_60.variant22 8 rs999188
dbSNP Clinvar
41435795 1043.88 T G PASS 1/1 154 SPLICE_SITE_REGION LOW None 0.44249 0.44250 None None None None None None AGPAT6|0.220966416|34.3%
View combined sample_60.variant22 9 rs296887
dbSNP Clinvar
86595070 927.23 C T PASS 0/1 83 SPLICE_SITE_REGION LOW None 0.33047 0.33050 None None None None None None HNRNPK|0.920491528|2.97%
View combined sample_60.variant22 11 rs55873719
dbSNP Clinvar
3379995 4641.06 C CG... PASS 1/1 93 SPLICE_SITE_REGION LOW None None None None None None None ZNF195|0.000866882|96.25%
View combined sample_60.variant22 11 . 34168456 46.56 T C PASS 0/1 21 SPLICE_SITE_REGION LOW None None None None None None None NAT10|0.408508185|20.26%
View combined sample_60.variant22 11 rs1263505
dbSNP Clinvar
77811990 2955.36 T C PASS 1/1 67 SPLICE_SITE_REGION LOW None 0.83267 0.83270 0.11961 None None None None None None ALG8|0.271828489|29.77%
View combined sample_60.variant22 11 rs137996267,rs71990559,rs35006083
dbSNP Clinvar
124636411 1538.31 A AT... PASS 1/1 107 SPLICE_SITE_REGION LOW None 0.52197 0.52200 None None None None None None MSANTD2|0.510799275|15.34%
View combined sample_60.variant22 12 rs79407997
dbSNP Clinvar
11174219 1612.67 C A PASS 0/1 138 SPLICE_SITE_REGION LOW None None None None None None None PRR4|0.000493683|98.46%,TAS2R14|0.00022192|99.72%,TAS2R19|0.000335865|99.27%
View combined sample_60.variant22 12 rs57302730,rs796814816
dbSNP Clinvar
123638761 469.16 GT G,GTT PASS 0/1 56 SPLICE_SITE_REGION LOW None 0.39217 0.39220 None None None None None None MPHOSPH9|0.120567798|47.37%
View combined sample_60.variant22 14 rs11160405
dbSNP Clinvar
98228835 381.22 G T PASS 0/1 15 SPLICE_SITE_REGION LOW None 0.64377 0.64380 None None None None None None None
View combined sample_60.variant22 15 rs199536430
dbSNP Clinvar
35147731 95.54 CTTT CT... PASS 0/2 12 SPLICE_SITE_REGION LOW None None None None None None None None
View combined sample_60.variant22 15 rs1107179
dbSNP Clinvar
85198362 755.56 G T PASS 0/1 83 SPLICE_SITE_REGION LOW None 0.72664 0.72660 None None None None None None NMB|0.018539893|74.96%
View combined sample_60.variant22 16 rs2238381
dbSNP Clinvar
3194830 453.28 A G PASS 1/1 36 SPLICE_SITE_REGION LOW None 0.33706 0.33710 None None None None None None CASP16|0.016227806|76.32%
View combined sample_60.variant22 17 rs796539890,rs80034240
dbSNP Clinvar
1682773 1441.2 AA... AA... PASS 0/3 80 SPLICE_SITE_REGION LOW None 0.31170 0.31170 None None None None None None None
View combined sample_60.variant22 17 rs2291447
dbSNP Clinvar
43212963 2505.43 G T PASS 1/1 213 SPLICE_SITE_REGION LOW None 0.42153 0.42150 None None None None None None ACBD4|0.054594192|61.31%
View combined sample_60.variant22 18 rs61020908
dbSNP Clinvar
22059919 374.47 G A PASS 0/1 12 SPLICE_SITE_REGION LOW None 0.17472 0.17470 None None None None None None HRH4|0.007388071|83.16%
View combined sample_60.variant22 19 rs2042285
dbSNP Clinvar
48287940 924.89 T C PASS 1/1 13 SPLICE_SITE_REGION LOW None 0.97604 0.97600 None None None None None None SEPW1|0.026972059|70.91%
View combined sample_60.variant22 19 rs2292112
dbSNP Clinvar
48799716 42.2 A G PASS 0/1 30 SPLICE_SITE_REGION LOW None 0.61482 0.61480 None None None None None None CCDC114|0.001933114|91.16%
View combined sample_60.variant22 19 rs143349422,rs60663083
dbSNP Clinvar
52115343 582.64 A AT... PASS 1/1 43 SPLICE_SITE_REGION LOW None 0.99002 0.99000 None None None None None None SIGLEC5|0.000613659|97.84%
View combined sample_60.variant22 19 rs200857637
dbSNP Clinvar
55424423 100.34 CTTT CT... PASS 0/1 14 SPLICE_SITE_REGION LOW None 0.43031 0.43030 None None None None None None NCR1|0.001189096|94.48%
View combined sample_60.variant22 20 rs66479936,rs398088196
dbSNP Clinvar
627258 584.89 CT C PASS 0/1 59 SPLICE_SITE_REGION LOW None 0.27676 0.27680 None None None None None None None
View combined sample_60.variant22 X . 100264530 353.15 CTT CT... PASS 0/1 43 SPLICE_SITE_REGION LOW None None None None None None None TRMT2B|0.029163187|69.8%
View combined sample_60.variant22 1 rs374777860,rs138962300
dbSNP Clinvar
24296853 85.54 G GT... PASS 5/5 11 SPLICE_SITE_REGION LOW None 0.88578 0.88580 None None None None None None SRSF10|0.128552538|46.11%
View combined sample_60.variant22 X rs209111
dbSNP Clinvar
105202600 2491.54 A T PASS 0/1 149 SPLICE_SITE_REGION LOW None 0.54146 0.54150 None None None None None None NRK|0.133592054|45.35%
View combined sample_60.variant22 3 rs10511307
dbSNP Clinvar
111859734 1301.63 C G PASS 1/1 25 SPLICE_SITE_REGION LOW None 0.31190 0.31190 None None None None None None SLC9C1|0.012962251|78.53%
View combined sample_60.variant22 3 rs3204024
dbSNP Clinvar
113666020 644.96 G C PASS 0/1 43 SPLICE_SITE_REGION LOW None 0.35603 0.35600 None None None None None None GRAMD1C|0.110513008|49.11%
View combined sample_60.variant22 4 rs879206532
dbSNP Clinvar
114375242 190.65 TA T,... PASS 0/2 85 SPLICE_SITE_REGION LOW None None None None None None None CAMK2D|0.555048734|13.51%
View combined sample_60.variant22 4 rs74651225,rs374857464
dbSNP Clinvar
115748918 7280.14 A T,AT PASS 1/2 288 SPLICE_SITE_REGION LOW None None None None None None None None
View combined sample_60.variant22 6 rs747185559
dbSNP Clinvar
43588226 157.63 GTGT G PASS 0/1 7 SPLICE_SITE_REGION LOW None None None None None None None GTPBP2|0.262700619|30.5%
View combined sample_60.variant22 6 . 49801969 1320.15 CT CTT,C PASS 0/1 162 SPLICE_SITE_REGION LOW None None None None None None None None
View combined sample_60.variant22 6 rs41273301
dbSNP Clinvar
89794877 49.49 A G PASS 0/1 7 SPLICE_SITE_REGION LOW None 0.00160 0.00160 None None None None None None PNRC1|0.363963796|23.16%
View combined sample_60.variant22 7 rs3857756
dbSNP Clinvar
5800769 241.33 A G PASS 1/1 11 SPLICE_SITE_REGION LOW None 0.96486 0.96490 None None None None None None RNF216|0.202241405|36.49%
View combined sample_60.variant22 7 rs187498039
dbSNP Clinvar
116201228 1225.17 G A PASS 0/1 117 SPLICE_SITE_REGION LOW None 0.00180 0.00180 None None None None None None CAV1|0.953094048|2.15%
View combined sample_60.variant22 10 rs1459996
dbSNP Clinvar
61007534 2016.47 A G PASS 1/1 61 SPLICE_SITE_REGION LOW None 0.73522 0.73520 0.26865 None None None None None None PHYHIPL|0.513316286|15.23%,FAM13C|0.181731447|38.82%
View combined sample_60.variant22 11 rs2289921
dbSNP Clinvar
8496611 2112.26 G C PASS 0/1 196 SPLICE_SITE_REGION LOW None 0.40276 0.40280 None None None None None None STK33|0.074109929|56.51%
View combined sample_60.variant22 11 rs551004316,rs758012275
dbSNP Clinvar
47430192 928.34 T TCGC PASS 1/1 32 SPLICE_SITE_REGION LOW None 0.29333 0.29330 None None None None None None SLC39A13|0.189426041|37.88%
View combined sample_60.variant22 11 . 63527340 1464.24 TAA TA... PASS 0/2 110 SPLICE_SITE_REGION LOW None None None None None None None RTN3|0.139164341|44.53%
View combined sample_60.variant22 11 rs11021310
dbSNP Clinvar
95502106 2194.62 A C PASS 1/1 104 SPLICE_SITE_REGION LOW None 0.19848 0.19850 None None None None None None FAM76B|0.469040634|17.2%
View combined sample_60.variant22 12 . 56557111 221.52 CTT CT... PASS 0/1 78 SPLICE_SITE_REGION LOW None None None None None None None MYL6|0.243057323|32.18%,SMARCC2|0.408081363|20.29%
View combined sample_60.variant22 1 rs899974
dbSNP Clinvar
53550187 790.42 C T PASS 1/1 52 SPLICE_SITE_REGION LOW None 0.80791 0.80790 None None None None None None PODN|0.074105781|56.52%
View combined sample_60.variant22 15 rs78192020
dbSNP Clinvar
91426687 77.95 G C PASS 0/1 4 SPLICE_SITE_REGION LOW None 0.04772 0.04772 None None None None None None FURIN|0.826927756|5.18%
View combined sample_60.variant22 16 rs72769523
dbSNP Clinvar
19714903 174.3 A G PASS 0/1 10 SPLICE_SITE_REGION LOW None 0.26038 0.26040 None None None None None None C16orf62|0.11372592|48.53%,KNOP1|0.003847625|87.24%
View combined sample_60.variant22 16 rs8045438
dbSNP Clinvar
68869449 2394.89 A G PASS 1/1 49 SPLICE_SITE_REGION LOW None 0.99481 0.99480 None None None None None None CDH1|0.998372534|0.51%
View combined sample_60.variant22 17 rs797044287,rs56107242
dbSNP Clinvar
5286861 8744.27 GT... G PASS 1/1 194 SPLICE_SITE_REGION LOW None None None None None None None RABEP1|0.452926926|18.05%,NUP88|0.126682329|46.39%
View combined sample_60.variant22 17 rs3180517
dbSNP Clinvar
6917850 1211.47 C A PASS 0/1 151 SPLICE_SITE_REGION LOW None 0.15875 0.15870 None None None None None None RNASEK|0.057333942|60.59%,RNASEK-C17orf49|0.371919774|22.61%,C17orf49|0.341426499|24.73%
View combined sample_60.variant22 17 rs11078672
dbSNP Clinvar
7215142 682.91 G A PASS 0/1 19 SPLICE_SITE_REGION LOW None 0.17053 0.17050 None None None None None None EIF5A|0.385576524|21.7%,GPS2|0.148381197|43.24%
View combined sample_60.variant22 17 rs17817968
dbSNP Clinvar
53046176 787.42 G T PASS 0/1 99 SPLICE_SITE_REGION LOW None 0.00759 0.00759 None None None None None None STXBP4|0.193564746|37.46%
View combined sample_60.variant22 19 rs34081
dbSNP Clinvar
11531272 1026.97 T G PASS 1/1 41 SPLICE_SITE_REGION LOW None 0.95687 0.95690 None None None None None None CCDC151|0.006639685|83.91%