Variant ID | Region | Annotation | Consequence | dbSNP | AC in INDEX_ALL | AF in INDEX_ALL | No. of Homozygotes | AF in INDEX_Controls |
---|---|---|---|---|---|---|---|---|
chr17-15932820-G-C | downstream | None | None | rs9916868 | 17 | 0.04857 | 6 | 0.04857 |
chr17-15933118-C-A | downstream | None | None | rs11650682 | 5 | 0.01429 | 0 | 0.01429 |
chr17-15935183-G-T | UTR3 | None | None | rs534389826 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15935456-C-T | UTR3 | None | None | rs73981417 | 7 | 0.02000 | 0 | 0.02000 |
chr17-15942832-C-T | exonic | nonsynonymous_SNV | ['c.G6561A', 'p.M2187I'] | rs139149781 | 2 | 0.00571 | 0 | 0.00571 |
chr17-15943648-T-C | intronic | None | None | . | 2 | 0.00571 | 0 | 0.00571 |
chr17-15943910-T-C | intronic | None | None | rs1075901 | 70 | 0.20000 | 19 | 0.20000 |
chr17-15947744-C-G | intronic | None | None | rs561069968 | 2 | 0.00571 | 0 | 0.00571 |
chr17-15948322-A-G | intronic | None | None | rs7218152 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15948430-A-G | intronic | None | None | rs4792717 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15950198-G-A | intronic | None | None | rs1079533 | 49 | 0.14000 | 10 | 0.14000 |
chr17-15961336-C-T | exonic | nonsynonymous_SNV | ['c.G5744A', 'p.R1915Q'] | rs200722329 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15961951-A-G | intronic | None | None | rs2157991 | 81 | 0.23143 | 26 | 0.23143 |
chr17-15961993-T-A | intronic | None | None | rs2157990 | 35 | 0.10000 | 12 | 0.10000 |
chr17-15965268-G-A | intronic | None | None | rs73981431 | 6 | 0.01714 | 0 | 0.01714 |
chr17-15967338-C-A | intronic | None | None | rs73981433 | 11 | 0.03143 | 1 | 0.03143 |
chr17-15968143-T-C | intronic | None | None | rs2285583 | 85 | 0.24286 | 15 | 0.24286 |
chr17-15971377-G-T | exonic | synonymous_SNV | ['c.C4620A', 'p.T1540T'] | rs576088669 | 3 | 0.00857 | 0 | 0.00857 |
chr17-15973844-A-T | intronic | None | None | rs12942295 | 108 | 0.30857 | 23 | 0.30857 |
chr17-15976696-T-C | intronic | None | None | rs117087658 | 5 | 0.01429 | 0 | 0.01429 |
chr17-15976868-C-T | exonic | nonsynonymous_SNV | ['c.G3734A', 'p.R1245Q'] | rs139458532 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15976883-T-C | exonic | nonsynonymous_SNV | ['c.A3719G', 'p.N1240S'] | rs767592019 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15977005-A-T | intronic | None | None | rs11078330 | 19 | 0.05429 | 5 | 0.05429 |
chr17-15983898-T-C | intronic | None | None | rs139446647 | 11 | 0.03143 | 0 | 0.03143 |
chr17-15990754-G-A | intronic | None | None | rs60011951 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15994888-C-T | UTR3 | None | None | rs2078050 | 8 | 0.02286 | 3 | 0.02286 |
chr17-15995262-C-A | exonic | synonymous_SNV | ['c.G2652T', 'p.R884R'] | rs534096909 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15995415-A-C | intronic | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr17-16004537-G-A | intronic | None | None | rs62073621 | 7 | 0.02000 | 1 | 0.02000 |
chr17-16004611-G-A | exonic | synonymous_SNV | ['c.C2364T', 'p.A788A'] | rs549743825 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16005187-T-C | intronic | None | None | rs2285580 | 40 | 0.11429 | 13 | 0.11429 |
chr17-16011485-G-A | intronic | None | None | rs555246349 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16012224-A-G | exonic | synonymous_SNV | ['c.T1731C', 'p.T577T'] | rs376830568 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16022883-T-C | intronic | None | None | rs76010143 | 4 | 0.01143 | 0 | 0.01143 |
chr17-16041306-C-A | intronic | None | None | rs2324142 | 7 | 0.02000 | 3 | 0.02000 |
chr17-16041410-A-T | intronic | None | None | rs567116649 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16041636-T-C | intronic | None | None | rs2875265 | 29 | 0.08286 | 9 | 0.08286 |
chr17-16046845-A-T | intronic | None | None | rs2285579 | 52 | 0.14857 | 15 | 0.14857 |
chr17-16046906-A-G | intronic | None | None | rs199713999 | 22 | 0.06286 | 2 | 0.06286 |
chr17-16049626-A-T | intronic | None | None | rs11078333 | 20 | 0.05714 | 6 | 0.05714 |
chr17-16055239-C-T | intronic | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr17-16068234-A-T | intronic | None | None | rs369130955 | 4 | 0.01143 | 0 | 0.01143 |
chr17-16068240-A-T | intronic | None | None | rs372814812 | 5 | 0.01429 | 0 | 0.01429 |
chr17-16068252-C-A | intronic | None | None | rs374864874 | 8 | 0.02286 | 0 | 0.02286 |
chr17-16068340-C-T | exonic | nonsynonymous_SNV | ['c.G244A', 'p.E82K'] | rs76780359 | 17 | 0.04857 | 0 | 0.04857 |
chr17-16068343-G-A | exonic | stopgain | ['c.C241T', 'p.R81X'] | rs78230791 | 19 | 0.05429 | 0 | 0.05429 |
chr17-16068362-C-T | exonic | synonymous_SNV | ['c.G222A', 'p.Q74Q'] | rs76375524 | 37 | 0.10571 | 0 | 0.10571 |
chr17-16068377-C-G | exonic | nonsynonymous_SNV | ['c.G207C', 'p.K69N'] | rs200020868 | 46 | 0.13143 | 0 | 0.13143 |
chr17-16068383-G-A | exonic | synonymous_SNV | ['c.C201T', 'p.L67L'] | rs199892481 | 51 | 0.14571 | 0 | 0.14571 |
chr17-16068396-G-A | exonic | nonsynonymous_SNV | ['c.C188T', 'p.S63L'] | rs150910818 | 65 | 0.18571 | 1 | 0.18571 |
chr17-16068463-C-T | exonic | nonsynonymous_SNV | ['c.G121A', 'p.G41R'] | rs74453660 | 17 | 0.04857 | 0 | 0.04857 |
chr17-16068506-T-C | intronic | None | None | rs201765279 | 59 | 0.16857 | 2 | 0.16857 |
chr17-16068545-A-C | intronic | None | None | rs77374546 | 27 | 0.07714 | 1 | 0.07714 |
chr17-16097825-T-G | exonic | nonsynonymous_SNV | ['c.A59C', 'p.Y20S'] | rs73281920 | 17 | 0.04857 | 0 | 0.04857 |
chr17-16097870-C-A | exonic | nonsynonymous_SNV | ['c.G14T', 'p.G5V'] | rs76145228 | 46 | 0.13143 | 0 | 0.13143 |
chr17-16097899-C-T | UTR5 | None | None | rs149293452 | 50 | 0.14286 | 0 | 0.14286 |
chr17-16097912-T-C | UTR5 | None | None | rs201806069 | 26 | 0.07429 | 0 | 0.07429 |
chr17-16097921-T-C | UTR5 | None | None | rs79572007 | 29 | 0.08286 | 0 | 0.08286 |
chr17-16097953-C-T | UTR5 | None | None | rs79346200 | 8 | 0.02286 | 0 | 0.02286 |
chr17-16098030-C-A | intronic | None | None | rs80257917 | 3 | 0.00857 | 0 | 0.00857 |
chr17-16098057-T-G | intronic | None | None | rs199955216 | 5 | 0.01429 | 0 | 0.01429 |
chr17-16098073-T-G | intronic | None | None | rs200958402 | 4 | 0.01143 | 0 | 0.01143 |
chr17-15968673-G-A | intronic | None | None | rs2285582 | 13 | 0.03714 | 5 | 0.03714 |
chr17-15976962-C-G | intronic | None | None | rs535573750 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15977043-C-T | intronic | None | None | rs9896441 | 5 | 0.01429 | 1 | 0.01429 |
chr17-15984058-A-G | intronic | None | None | rs564545810 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16021431-C-G | intronic | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr17-16029643-G-C | intronic | None | None | rs149482223 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16089836-C-A | intronic | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr17-15947900-C-T | intronic | None | None | rs189094126 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15950268-T-C | exonic | nonsynonymous_SNV | ['c.A6367G', 'p.M2123V'] | rs547933528 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15961005-G-A | exonic | nonsynonymous_SNV | ['c.C5906T', 'p.T1969I'] | rs576951960 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15965042-T-C | exonic | nonsynonymous_SNV | ['c.A5554G', 'p.N1852D'] | rs563704124 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15968549-A-C | intronic | None | None | rs3815038 | 2 | 0.00571 | 1 | 0.00571 |
chr17-15971356-C-T | exonic | synonymous_SNV | ['c.G4641A', 'p.A1547A'] | rs771741474 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15973774-T-G | exonic | nonsynonymous_SNV | ['c.A4266C', 'p.L1422F'] | rs61753150 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15976558-T-G | intronic | None | None | rs9891379 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15983373-C-T | exonic | nonsynonymous_SNV | ['c.G3454A', 'p.A1152T'] | rs200574326 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15989525-C-T | intronic | None | None | rs573068760 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15990445-G-A | intronic | None | None | rs73981445 | 3 | 0.00857 | 0 | 0.00857 |
chr17-16004368-C-T | intronic | None | None | rs7207889 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16004984-G-A | exonic | nonsynonymous_SNV | ['c.C1991T', 'p.T664M'] | rs141130092 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16011441-T-C | intronic | None | None | rs374948633 | 2 | 0.00571 | 1 | 0.00571 |
chr17-16011695-C-G | intronic | None | None | rs143529123 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16049758-T-C | exonic | synonymous_SNV | ['c.A687G', 'p.T229T'] | . | 1 | 0.00286 | 0 | 0.00286 |
chr17-16068278-A-G | intronic | None | None | rs200739355 | 10 | 0.02857 | 0 | 0.02857 |
chr17-16068287-A-T | intronic | None | None | rs201932638 | 11 | 0.03143 | 0 | 0.03143 |
chr17-16068464-G-A | exonic | synonymous_SNV | ['c.C120T', 'p.F40F'] | rs200311165 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16068492-C-G | intronic | None | None | rs777127113 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16068579-C-A | intronic | None | None | rs76571303 | 2 | 0.00571 | 0 | 0.00571 |
chr17-16068583-T-G | intronic | None | None | rs796602104 | 2 | 0.00571 | 0 | 0.00571 |
chr17-16068597-T-C | intronic | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr17-16068603-T-C | intronic | None | None | rs796642927 | 2 | 0.00571 | 0 | 0.00571 |
chr17-16097761-C-G | intronic | None | None | . | 2 | 0.00571 | 0 | 0.00571 |
chr17-16097765-C-T | intronic | None | None | . | 2 | 0.00571 | 0 | 0.00571 |
chr17-16097786-C-T | exonic | nonsynonymous_SNV | ['c.G98A', 'p.R33H'] | rs201037902 | 1 | 0.00286 | 0 | 0.00286 |
chr17-16097792-T-C | exonic | nonsynonymous_SNV | ['c.A92G', 'p.N31S'] | rs202117316 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15934581-AGCT-A | UTR3 | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr17-15934586-AT-A | UTR3 | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr17-15973417-GT-G | intronic | None | None | rs368198526 | 1 | 0.00286 | 0 | 0.00286 |
chr17-15994864-T-TCTCA | intronic | None | None | rs3030848 | 2 | 0.00571 | 1 | 0.00571 |
chr17-16011493-CAA-CA | intronic | None | None | rs35417050 | 7 | 0.02000 | 0 | 0.02000 |
chr17-16022873-T-TA | intronic | None | None | . | 1 | 0.00286 | 0 | 0.00286 |
chr17-16024701-C-CA | intronic | None | None | rs11410605 | 11 | 0.03143 | 3 | 0.03143 |
chr17-16097602-T-TAAG | intronic | None | None | rs113022990 | 5 | 0.01429 | 2 | 0.01429 |
chr17-16097736-AC-A | intronic | None | None | rs371039277 | 4 | 0.01143 | 0 | 0.01143 |
chr17-16097744-CAT-C | intronic | None | None | . | 4 | 0.01143 | 0 | 0.01143 |
AC-Allele Count; AF-Allele Frequency