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OMIM:
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DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

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

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 115
Number of Genes: 0

Export to: CSV
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 index31 1 rs4587513
dbSNP Clinvar
3723195 32.79 A G . 0/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.48822 0.48820 None None None None None None None
View index31 1 rs2027222
dbSNP Clinvar
9084924 338.77 T C . 0/1 34 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81709 0.81710 None None None None None None SLC2A7|0.007683394|82.87%
View index31 1 rs5746001
dbSNP Clinvar
12248503 224.8 G A . 1/1 7 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11062 0.11060 None None None None None None TNFRSF1B|0.012362515|79%
View index31 1 rs1988816
dbSNP Clinvar
17077196 58.81 G T . 0/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None CROCC|0.082326199|54.7%
View index31 1 rs616826
dbSNP Clinvar
144918189 65.82 A C . 0/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None PDE4DIP|0.07469644|56.36%
View index31 1 rs3738802
dbSNP Clinvar
212955972 66.28 G A . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.59904 0.59900 None None None None None None NSL1|0.045758694|63.97%
View index31 3 rs116643131
dbSNP Clinvar
46951214 82.77 C G . 0/1 16 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00779 0.00779 None None None None None None None
View index31 3 rs73859048
dbSNP Clinvar
125931603 40.74 G A . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.30571 0.30570 None None None None None None None
View index31 4 rs3796863
dbSNP Clinvar
15849986 346.77 G T . 1/1 12 MOTIF[MA0139.1:CTCF] MODIFIER None 0.43510 0.43510 None None None None None None CD38|0.014380427|77.57%
View index31 4 rs17470892
dbSNP Clinvar
48143201 280.77 T C . 0/1 21 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19569 0.19570 None None None None None None TEC|0.720083632|7.97%
View index31 5 rs2431072
dbSNP Clinvar
150677976 696.77 T C . 1/1 22 MOTIF[MA0139.1:CTCF] MODIFIER None 0.82568 0.82570 None None None None None None SLC36A3|0.018050533|75.25%
View index31 7 rs1008384
dbSNP Clinvar
44178626 373.77 A G . 0/1 41 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16494 0.16490 0.19968 None None None None None None MYL7|0.150786926|42.85%
View index31 7 rs35199312
dbSNP Clinvar
45119946 178.77 T G . 0/1 16 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21925 0.21920 None None None None None None None
View index31 10 rs4750114
dbSNP Clinvar
11834940 190.84 C G . 1/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.92053 0.92050 None None None None None None None
View index31 10 rs34058224
dbSNP Clinvar
47667508 332.77 C A . 0/1 30 MOTIF[MA0139.1:CTCF] MODIFIER None 0.23243 0.23240 None None None None None None ANTXRL|0.000107209|99.93%
View index31 10 rs561112664
dbSNP Clinvar
71168639 40.74 C G . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.52037 0.52040 None None None None None None TACR2|0.074747696|56.35%
View index31 10 rs111313275
dbSNP Clinvar
71168645 77.28 C T . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None TACR2|0.074747696|56.35%
View index31 10 rs113690919
dbSNP Clinvar
71168653 94.03 T G . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.57488 0.57490 None None None None None None TACR2|0.074747696|56.35%
View index31 10 rs41277992
dbSNP Clinvar
72294100 291.77 C T . 0/1 21 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10004 0.10000 None None None None None None PALD1|0.038632473|66.24%
View index31 10 rs12358935
dbSNP Clinvar
72319272 34.74 C T . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.07149 0.07149 None None None None None None PALD1|0.038632473|66.24%
View index31 11 rs4078520
dbSNP Clinvar
723429 382.77 C T . 0/1 41 MOTIF[MA0139.1:CTCF] MODIFIER None 0.34165 0.34170 None None None None None None EPS8L2|0.009899843|80.93%
View index31 11 rs2074039
dbSNP Clinvar
44092880 672.77 C T . 0/1 67 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.11203 None None None None None None ACCS|0.034927707|67.49%
View index31 11 rs2298724
dbSNP Clinvar
120823721 1739.77 A G . 1/1 60 MOTIF[MA0139.1:CTCF] MODIFIER None 0.26558 0.26560 0.25984 None None None None None None GRIK4|0.59773792|11.84%
View index31 12 rs1379610
dbSNP Clinvar
53681683 51.77 A G . 0/1 8 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11222 0.11220 None None None None None None ESPL1|0.25246921|31.33%
View index31 14 rs4982856
dbSNP Clinvar
24563212 283.77 T C . 0/1 36 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41154 0.41150 None None None None None None NRL|0.215034879|34.98%
View index31 14 rs7142144
dbSNP Clinvar
106892421 211.8 C T . 1/1 10 MOTIF[MA0139.1:CTCF] MODIFIER None 0.65635 0.65630 None None None None None None None
View index31 15 rs351242
dbSNP Clinvar
74472716 835.77 G A . 1/1 28 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81969 0.81970 None None None None None None STRA6|0.02555581|71.53%
View index31 15 rs62023331
dbSNP Clinvar
89182466 136.77 C T . 0/1 12 MOTIF[MA0139.1:CTCF] MODIFIER None 0.32468 0.32470 None None None None None None ISG20|0.032296322|68.47%
View index31 16 rs7206590
dbSNP Clinvar
85120500 868.77 C T . 1/1 27 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29293 0.29290 None None None None None None KIAA0513|0.076353431|56.01%
View index31 16 rs2291963
dbSNP Clinvar
85120510 879.77 A G . 1/1 30 MOTIF[MA0139.1:CTCF] MODIFIER None 0.36582 0.36580 None None None None None None KIAA0513|0.076353431|56.01%
View index31 17 rs2189336
dbSNP Clinvar
5326162 720.77 G A . 1/1 25 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View index31 17 rs2286519
dbSNP Clinvar
26881730 59.77 G A . 0/1 17 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21346 0.21350 None None None None None None PIGS|0.21644599|34.82%
View index31 17 rs16965748
dbSNP Clinvar
38555557 119.77 T C . 0/1 8 MOTIF[MA0139.1:CTCF] MODIFIER None 0.03435 0.03435 None None None None None None TOP2A|0.892733003|3.6%
View index31 17 rs2696295
dbSNP Clinvar
48246827 58.79 C T . 0/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.48742 0.48740 None None None None None None SGCA|0.093675524|52.43%
View index31 19 rs8103622
dbSNP Clinvar
18572834 57.77 C T . 0/1 16 MOTIF[MA0139.1:CTCF] MODIFIER None 0.44808 0.44810 None None None None None None ELL|0.132483576|45.53%
View index31 20 rs12624452
dbSNP Clinvar
37554781 182.77 G T . 0/1 16 MOTIF[MA0139.1:CTCF] MODIFIER None 0.20208 0.20210 None None None None None None None
View index31 21 rs7276705
dbSNP Clinvar
44283208 32.79 A G . 0/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50220 0.50220 None None None None None None WDR4|0.025778216|71.43%
View index31 22 rs5756698
dbSNP Clinvar
37889014 74.77 C T . 0/1 9 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11921 0.11920 None None None None None None CARD10|0.081670514|54.84%
View index31 1 rs6698704
dbSNP Clinvar
16862186 38.77 G A . 0/1 34 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View index31 1 rs151007
dbSNP Clinvar
148902223 57.77 G A . 0/1 17 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View index31 1 rs2531506
dbSNP Clinvar
148902392 102.77 G A . 0/1 46 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View index31 1 rs138238507
dbSNP Clinvar
207081013 53.77 G C . 0/1 8 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00998 0.00998 None None None None None None FAIM3|0.00392552|87.14%
View index31 2 rs59000721,rs397758337
dbSNP Clinvar
10282679 323.74 G GC . 1/1 9 MOTIF[MA0139.1:CTCF] LOW None 0.99900 0.99900 None None None None None None C2orf48|0.00069338|97.3%
View index31 2 rs2243805
dbSNP Clinvar
128407499 193.77 G A . 0/1 22 MOTIF[MA0139.1:CTCF] MODIFIER None 0.54293 0.54290 None None None None None None LIMS2|0.178462666|39.21%,GPR17|0.126816892|46.37%
View index31 2 rs72617042
dbSNP Clinvar
137523036 42.74 T C . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.51558 0.51560 None None None None None None None
View index31 3 rs57493405
dbSNP Clinvar
41737481 80.28 T C . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.22324 0.22320 None None None None None None ULK4|0.102483555|50.69%
View index31 4 rs398377
dbSNP Clinvar
2010973 41.74 T G . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28095 0.28100 None None None None None None NELFA|0.049308103|62.86%
View index31 5 rs4957430
dbSNP Clinvar
41843797 662.77 C T . 0/1 55 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21605 0.21610 None None None None None None OXCT1|0.313202771|26.58%
View index31 6 rs2296358
dbSNP Clinvar
7390369 1179.77 T C . 1/1 39 MOTIF[MA0139.1:CTCF] MODIFIER None 0.87560 0.87560 None None None None None None RIOK1|0.078777032|55.49%
View index31 8 rs4841558
dbSNP Clinvar
11415597 530.79 C T . 1/1 19 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.38867 None None None None None None BLK|0.095762795|51.98%
View index31 8 rs1042701
dbSNP Clinvar
11422045 1140.77 G A . 0/1 121 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24002 0.24000 None None None None None None BLK|0.095762795|51.98%
View index31 8 rs3802285
dbSNP Clinvar
62491943 198.8 G A . 1/1 8 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81889 0.81890 None None None None None None ASPH|0.124407055|46.75%
View index31 8 rs4961194
dbSNP Clinvar
87494974 592.78 G C . 1/1 21 MOTIF[MA0139.1:CTCF] MODIFIER None 0.57288 0.57290 None None None None None None RMDN1|0.216578643|34.8%
View index31 9 . 133942208 175.77 G T . 0/1 16 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None LAMC3|0.028908459|69.93%
View index31 9 rs1572344
dbSNP Clinvar
133948375 876.77 T C . 1/1 31 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81550 0.81550 None None None None None None LAMC3|0.028908459|69.93%
View index31 10 . 129867809 32.78 G C . 0/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None PTPRE|0.026019241|71.31%
View index31 10 rs4350282
dbSNP Clinvar
129867815 76.28 T C . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 1.00000 1.00000 None None None None None None PTPRE|0.026019241|71.31%
View index31 11 rs2286810
dbSNP Clinvar
22851409 210.8 A G . 1/1 7 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38299 0.38300 None None None None None None SVIP|0.065416803|58.51%
View index31 11 rs208078
dbSNP Clinvar
31128721 103.03 G T . 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.78035 0.78040 None None None None None None DCDC1|0.277336592|29.32%
View index31 11 rs535014
dbSNP Clinvar
58618099 89.28 C T . 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.84026 0.84030 None None None None None None GLYATL2|0.000328807|99.31%
View index31 14 rs57397803
dbSNP Clinvar
107183320 324.77 T G . 0/1 22 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View index31 12 rs17030480
dbSNP Clinvar
101127795 73.77 C T . 0/1 16 MOTIF[MA0139.1:CTCF] MODIFIER None 0.26558 0.26560 None None None None None None ANO4|0.60629619|11.58%
View index31 12 rs2070873
dbSNP Clinvar
120763440 197.8 C A . 1/1 7 MOTIF[MA0139.1:CTCF] MODIFIER None 0.23942 0.23940 None None None None None None PLA2G1B|0.156826439|42.04%
View index31 12 rs1244063
dbSNP Clinvar
124832606 518.77 A G . 0/1 43 MOTIF[MA0139.1:CTCF] MODIFIER None 0.76578 0.76580 None None None None None None NCOR2|0.460506037|17.66%
View index31 12 rs11057888
dbSNP Clinvar
125383129 70.28 C A . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.39896 0.39900 None None None None None None None
View index31 13 rs67765306
dbSNP Clinvar
40229842 313.73 A AG . 0/1 33 MOTIF[MA0139.1:CTCF] LOW None 0.44369 0.44370 0.38268 None None None None None None COG6|0.303873453|27.36%
View index31 14 rs6109
dbSNP Clinvar
95058360 549.77 A G . 1/1 17 MOTIF[MA0139.1:CTCF] MODIFIER None 0.63099 0.63100 0.22036 None None None None None None SERPINA5|0.010727799|80.35%
View index31 14 rs7155302
dbSNP Clinvar
107183338 121.77 C A . 0/1 24 MOTIF[MA0139.1:CTCF] MODIFIER None 0.13099 0.13100 None None None None None None None
View index31 14 rs1987970
dbSNP Clinvar
107198866 551.77 T G . 1/1 17 MOTIF[MA0139.1:CTCF] MODIFIER None 1.00000 1.00000 None None None None None None None
View index31 15 rs17137332
dbSNP Clinvar
23061244 62.28 A G . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.30851 0.30850 None None None None None None NIPA1|0.380603066|22%
View index31 15 rs3826020
dbSNP Clinvar
23609612 99.03 A G . 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.07208 0.07208 None None None None None None GOLGA8S|0.001395246|93.37%
View index31 15 rs62016990
dbSNP Clinvar
30396042 36.74 T C . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.26977 0.26980 None None None None None None None
View index31 15 rs55986634
dbSNP Clinvar
64275645 218.77 G A . 0/1 21 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16214 0.16210 None None None None None None DAPK2|0.301329146|27.56%
View index31 16 rs12931876
dbSNP Clinvar
87874182 558.77 T C . 0/1 43 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24201 0.24200 None None None None None None SLC7A5|0.094869709|52.16%
View index31 17 rs868186438
dbSNP Clinvar
60342605 67.28 G A . 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View index31 19 rs11668153
dbSNP Clinvar
4352763 184.77 C T . 0/1 10 MOTIF[MA0139.1:CTCF] MODIFIER None 0.64896 0.64900 None None None None None None MPND|0.028339111|70.27%
View index31 19 rs10432306
dbSNP Clinvar
5892743 1068.77 C T . 0/1 94 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41274 0.41270 None None None None None None FUT5|0.001156471|94.68%,NDUFA11|0.003107133|88.49%
View index31 19 rs1631032
dbSNP Clinvar
5892770 2516.77 C T . 1/1 85 MOTIF[MA0139.1:CTCF] MODIFIER None 0.58586 0.58590 None None None None None None FUT5|0.001156471|94.68%,NDUFA11|0.003107133|88.49%
View index31 19 rs2305763
dbSNP Clinvar
17316253 559.77 T C . 0/1 44 MOTIF[MA0139.1:CTCF] MODIFIER None 0.62979 0.62980 None None None None None None MYO9B|0.037345575|66.66%
View index31 19 rs10423542
dbSNP Clinvar
17316261 578.77 G A . 0/1 44 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05092 0.05092 None None None None None None MYO9B|0.037345575|66.66%
View index31 19 rs4020520
dbSNP Clinvar
23869684 418.77 G A . 1/1 15 MOTIF[MA0139.1:CTCF] MODIFIER None 0.97304 0.97300 None None None None None None ZNF675|0.001544841|92.55%
View index31 19 rs338584
dbSNP Clinvar
41712113 999.77 C G . 1/1 31 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28215 0.28210 None None None None None None CYP2S1|0.00746674|83.09%
View index31 20 rs6089695
dbSNP Clinvar
60808026 650.77 C T . 0/1 48 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38538 0.38540 None None None None None None None
View index31 21 rs56145149
dbSNP Clinvar
43696999 419.77 C T . 0/1 27 MOTIF[MA0139.1:CTCF] MODIFIER None 0.07648 0.07648 0.03352 None None None None None None ABCG1|0.367260015|22.94%
View index31 22 rs13053731
dbSNP Clinvar
36682707 738.77 G A . 0/1 50 MOTIF[MA0139.1:CTCF] MODIFIER None 0.04113 0.04113 None None None None None None MYH9|0.668562251|9.42%
View index31 1 rs6697830
dbSNP Clinvar
46290477 141.77 C A . 0/1 12 MOTIF[MA0139.1:CTCF] MODIFIER None 0.36861 0.36860 None None None None None None MAST2|0.140850422|44.29%
View index31 1 rs6701018
dbSNP Clinvar
248100333 37.74 G A . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38079 0.38080 None None None None None None None
View index31 2 rs79315122
dbSNP Clinvar
90008243 120.77 G C . 0/1 21 MOTIF[MA0139.1:CTCF] MODIFIER None 0.15715 0.15710 None None None None None None None
View index31 2 rs7564882
dbSNP Clinvar
209134025 43.77 A G . 0/1 7 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96386 0.96390 None None None None None None PIKFYVE|0.407766308|20.32%
View index31 2 rs7605498
dbSNP Clinvar
209134035 55.77 T C . 0/1 7 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00060 0.96310 None None None None None None PIKFYVE|0.407766308|20.32%
View index31 3 rs7640969
dbSNP Clinvar
45718327 304.77 T G . 0/1 30 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00040 0.00040 None None None None None None LIMD1|0.021021846|73.66%
View index31 3 rs2269443
dbSNP Clinvar
46491290 244.77 G A . 0/1 13 MOTIF[MA0139.1:CTCF] MODIFIER None 0.18291 0.18290 None None None None None None LTF|0.008447646|82.21%
View index31 4 rs2176787
dbSNP Clinvar
57167830 149.9 C T . 1/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74481 0.74480 None None None None None None KIAA1211|0.006705951|83.84%
View index31 7 rs11761361
dbSNP Clinvar
102107697 369.77 G C . 1/1 14 MOTIF[MA0139.1:CTCF] MODIFIER None 0.47125 0.47120 None None None None None None LRWD1|0.105506437|50.14%
View index31 7 rs11768828
dbSNP Clinvar
102810717 236.77 A G . 0/1 21 MOTIF[MA0139.1:CTCF] MODIFIER None 0.75639 0.75640 None None None None None None None
View index31 7 rs5888422,rs397781507
dbSNP Clinvar
150672162 711.73 T TC . 1/1 19 MOTIF[MA0139.1:CTCF] LOW None 1.00000 1.00000 None None None None None None KCNH2|0.688011457|8.87%
View index31 10 rs3011719
dbSNP Clinvar
52420089 669.77 A G . 1/1 26 MOTIF[MA0139.1:CTCF] MODIFIER None 0.79113 0.79110 None None None None None None None
View index31 10 rs2784774
dbSNP Clinvar
81921553 149.77 T C . 0/1 11 MOTIF[MA0139.1:CTCF] MODIFIER None 0.94968 0.94970 None None None None None None ANXA11|0.080075284|55.15%
View index31 11 rs10769244
dbSNP Clinvar
47182368 56.77 A G . 0/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38179 0.38180 None None None None None None C11orf49|0.471493042|17.11%
View index31 11 rs10769245
dbSNP Clinvar
47182370 61.77 G A . 0/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.39537 0.39540 None None None None None None C11orf49|0.471493042|17.11%