Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-133971877-C-T c.-140C>T 5_prime_UTR_premature_start_codon_gain AIF1L 1 29904 3.34403E-5 14952 0 3.76932E-5
9-133971898-C-T c.-119C>T 5_prime_UTR_premature_start_codon_gain AIF1L 1 33760 2.96209E-5 16880 0 NA
9-133971905-C-G c.-112C>G 5_prime_UTR_premature_start_codon_gain AIF1L 14 35086 3.9902E-4 17543 0 3.22643E-5
9-133971952-G-C c.-65G>C 5_prime_UTR_premature_start_codon_gain AIF1L 1 41096 2.43333E-5 20548 0 NA
9-133972021-C-T p.Ser2Leu missense AIF1L 1 42950 2.32829E-5 21475 0 NA
9-133972022-G-T p.Ser2Ser synonymous AIF1L 1 42924 2.3297E-5 21462 0 6.11247E-4
9-133972026-G-A p.Glu4Lys missense AIF1L 6 43122 1.3914E-4 21561 0 2.23871E-4
9-133972054-G-C c.31+7G>C splice_region AIF1L 1 44814 2.23145E-5 22407 0 6.39959E-5
9-133972170-G-A p.Arg12His missense AIF1L 1 61000 1.63934E-5 30500 0 NA
9-133972171-C-T p.Arg12Arg synonymous AIF1L 1 61266 1.63223E-5 30633 0 1.27681E-4
9-133972178-G-T p.Val15Phe missense AIF1L 1 62328 1.60442E-5 31164 0 NA
9-133972185-C-G p.Ser17Cys missense AIF1L 3 62900 4.76948E-5 31450 0 NA
9-133972198-C-A p.Ala14Glu missense AIF1L 1 63258 1.58083E-5 31629 0 NA
9-133972208-G-C p.Leu17Phe missense AIF1L 1 64224 1.55705E-5 32112 0 6.38366E-5
9-133972219-G-A p.Arg21Gln missense AIF1L 1 64358 1.55381E-5 32179 0 6.52827E-5
9-133972224-G-C p.Glu23Gln missense AIF1L 2 64448 3.10328E-5 32224 0 NA
9-133972225-A-C p.Glu23Ala missense AIF1L 1 64182 1.55807E-5 32091 0 NA
9-133972238-C-G p.Arg35Gly missense AIF1L 2 63410 3.15408E-5 31705 0 6.55652E-5
9-133972243-T-C p.Ile29Thr missense AIF1L 1 63322 1.57923E-5 31661 0 3.19734E-5
9-133972255-G-T c.93+5G>T splice_region AIF1L 1 62216 1.6073E-5 31108 0 NA
9-133978208-C-T c.-60C>T 5_prime_UTR_premature_start_codon_gain AIF1L 1 9304 1.07481E-4 4652 0 4.14118E-4
9-133978287-T-C p.Ile7Thr missense AIF1L 11 9542 0.0011528 4771 0 8.80076E-4
9-133978291-C-T p.Ser8Ser synonymous AIF1L 7 9540 7.33753E-4 4770 0 0.016168
9-133978319-A-T p.Ile18Leu missense AIF1L 11 9534 0.00115377 4767 0 0.0014402
9-133978340-G-A p.Gly25Arg missense AIF1L 4 9518 4.20256E-4 4759 0 0.00127397
9-133978345-A-G p.Pro26Pro synonymous AIF1L 1 9528 1.04954E-4 4764 0 1.27372E-4
9-133978347-G-A p.Gly27Glu missense AIF1L 26 9518 0.00273167 4759 1 0.00512674
9-133978359-G-T p.Arg31Leu missense AIF1L 4 9468 4.22476E-4 4734 0 0.0025
9-133978366-G-A p.Lys33Lys synonymous AIF1L 2 9422 2.12269E-4 4711 0 1.84809E-4
9-133981592-G-T p.Glu37Asp missense AIF1L 1 76756 1.30283E-5 38378 0 NA
9-133981595-G-A p.Pro38Pro synonymous AIF1L 3 76772 3.90767E-5 38386 0 9.55414E-5
9-133981604-G-A p.Gln41Gln synonymous AIF1L 2 76778 2.60491E-5 38389 0 NA
9-133981604-G-C p.Gln41His missense AIF1L 1 76778 1.30246E-5 38389 0 NA
9-133981613-A-G p.Ser44Ser synonymous AIF1L 1 76766 1.30266E-5 38383 0 NA
9-133981623-C-G p.His48Asp missense AIF1L 1 76756 1.30283E-5 38378 0 NA
9-133981628-C-G p.Ser49Arg missense AIF1L 4 76740 5.21241E-5 38370 0 2.19899E-5
9-133981629-T-C p.Cys50Arg missense AIF1L 15169 76130 0.199251 38065 1659 0.216959
9-133981634-G-A p.Leu51Leu synonymous AIF1L 1540 76620 0.0200992 38310 22 0.0368884
9-133981641-C-G p.Leu54Val missense AIF1L 3 76658 3.91349E-5 38329 0 NA
9-133981649-T-C p.Phe56Phe synonymous AIF1L 1 76546 1.3064E-5 38273 0 NA
9-133981651-AG-A p.Leu54fs frameshift AIF1L 1 76468 1.30774E-5 38234 0 0.00131926
9-133981655-AAGTTAGTTAACCT-A c.171+4_171+16delAGTTAGTTAACCT splice_region AIF1L 1 76406 1.3088E-5 38203 0 NA
9-133986878-C-T c.-181C>T 5_prime_UTR_premature_start_codon_gain AIF1L 1 73988 1.35157E-5 36994 0 3.18715E-5
9-133986892-C-T c.-167C>T 5_prime_UTR_premature_start_codon_gain AIF1L 28 76798 3.64593E-4 38399 0 1.59357E-4
9-133986911-C-T c.-148C>T 5_prime_UTR_premature_start_codon_gain AIF1L 4 79594 5.0255E-5 39797 0 6.37064E-5
9-133986929-G-A c.-130G>A 5_prime_UTR_premature_start_codon_gain AIF1L 2 81230 2.46214E-5 40615 0 6.37349E-5
9-133986933-G-A c.-126G>A 5_prime_UTR_premature_start_codon_gain AIF1L 2 81402 2.45694E-5 40701 0 NA
9-133986976-C-T c.94-8C>T splice_region AIF1L 2 82796 2.41558E-5 41398 0 4.13688E-5
9-133986979-T-G c.94-5T>G splice_region AIF1L 3 82806 3.62293E-5 41403 0 1.27429E-4
9-133986980-T-G c.-79T>G 5_prime_UTR_premature_start_codon_gain AIF1L 81680 81708 0.999657 40854 40840 1.0
9-133986991-T-A p.Leu34Gln missense AIF1L 5 82900 6.03136E-5 41450 0 3.18593E-5
9-133987019-G-A p.Glu43Glu synonymous AIF1L 1 82942 1.20566E-5 41471 0 NA
9-133987020-A-G p.Asn44Asp missense AIF1L 4 82940 4.82276E-5 41470 0 3.58121E-5
9-133987022-C-G p.Asn44Lys missense AIF1L 1 82918 1.20601E-5 41459 0 NA
9-133987025-T-A p.Leu45Leu synonymous AIF1L 1 82912 1.2061E-5 41456 0 3.97893E-6
9-133987028-A-G p.Pro46Pro synonymous AIF1L 5 82940 6.02845E-5 41470 0 3.29837E-5
9-133987041-G-A p.Ala51Thr missense AIF1L 7 82900 8.44391E-5 41450 0 6.37227E-5
9-133987043-C-T p.Ala51Ala synonymous AIF1L 35 82856 4.2242E-4 41428 0 5.03525E-4
9-133987044-T-C p.Phe52Leu missense AIF1L 3 82856 3.62074E-5 41428 0 7.96077E-6
9-133987057-T-C c.160+7T>C splice_region AIF1L 1 82702 1.20916E-5 41351 0 3.98276E-6
9-133989969-T-C p.Tyr56His missense AIF1L 2 83254 2.40229E-5 41627 0 NA
9-133989972-A-G p.Met1? start_lost AIF1L 2 83268 2.40188E-5 41634 0 6.25E-4
9-133989973-T-C p.Met1? start_lost AIF1L 233 83258 0.00279853 41629 0 0.00216685
9-133989976-A-T p.Glu58Val missense AIF1L 6 83282 7.20444E-5 41641 0 0.00251762
9-133989977-G-A p.Glu58Glu synonymous AIF1L 1 83284 1.20071E-5 41642 0 3.18552E-5
9-133989983-C-T c.178+2C>T splice_donor AIF1L 1 83288 1.20065E-5 41644 0 3.29457E-5
9-133989989-C-T c.178+8C>T splice_region AIF1L 2 83284 2.40142E-5 41642 0 3.18532E-5
9-133989991-A-G p.Asn63Ser missense AIF1L 1 83268 1.20094E-5 41634 0 NA
9-133989992-T-C p.Asn63Asn synonymous AIF1L 1 83276 1.20083E-5 41638 0 8.23642E-6
9-133989997-G-C p.Gly65Ala missense AIF1L 2 83282 2.40148E-5 41641 0 1.19288E-5
9-133993135-C-G c.203-8C>G splice_region AIF1L 15 82904 1.80932E-4 41452 0 2.86679E-4
9-133993136-C-G c.203-7C>G splice_region AIF1L 3 82916 3.61812E-5 41458 0 8.65606E-5
9-133993137-C-T c.203-6C>T splice_region AIF1L 2 82958 2.41086E-5 41479 0 6.37349E-5
9-133993138-G-A c.203-5G>A splice_region AIF1L 3 82970 3.61576E-5 41485 0 NA
9-133993139-G-A c.203-4G>A splice_region AIF1L 1 82994 1.20491E-5 41497 0 8.60097E-6
9-133993146-T-C p.Leu69Pro missense AIF1L 1 83148 1.20267E-5 41574 0 4.04478E-6
9-133993181-G-A p.Val81Ile missense AIF1L 1 83338 1.19993E-5 41669 0 NA
9-133993183-C-T p.Val81Val synonymous AIF1L 1 83340 1.1999E-5 41670 0 5.03525E-4
9-133993187-A-C p.Lys83Gln missense AIF1L 2 83358 2.39929E-5 41679 0 8.25573E-6
9-133993192-C-T p.Thr84Thr synonymous AIF1L 1 83358 1.19964E-5 41679 0 1.65027E-5
9-133993194-A-G p.His85Arg missense AIF1L 1 83362 1.19959E-5 41681 0 8.24933E-6
9-133993204-G-A p.Met88Ile missense AIF1L 1 83374 1.19941E-5 41687 0 NA
9-133993209-A-T p.Lys90Met missense AIF1L 2 83382 2.3986E-5 41691 0 8.24484E-6
9-133993220-G-A p.Glu94Lys missense+splice_region AIF1L 1 83384 1.19927E-5 41692 0 NA
9-133993226-A-T p.Thr96Ser missense AIF1L 1 83380 1.19933E-5 41690 0 NA
9-133993237-C-G c.126+3C>G splice_region AIF1L 1 83374 1.19941E-5 41687 0 NA
9-133993241-G-A p.Asp101Asn missense AIF1L 12 83376 1.43926E-4 41688 0 5.73614E-4
9-133993243-C-T p.Asp101Asp synonymous AIF1L 3 83380 3.59799E-5 41690 0 7.95665E-6
9-133993245-C-T p.Thr102Ile missense AIF1L 1 83382 1.1993E-5 41691 0 NA
9-133993248-TATCCTACC-T p.Ile103fs frameshift AIF1L 1 83384 1.19927E-5 41692 0 NA
9-133993252-C-A p.Ser104Ser synonymous AIF1L 1 83384 1.19927E-5 41692 0 NA
9-133993256-C-T p.Arg106* stop_gained AIF1L 1 83384 1.19927E-5 41692 0 8.26132E-6
9-133993284-A-G p.Lys115Arg missense AIF1L 1 83372 1.19944E-5 41686 0 NA
9-133993286-C-T p.Arg116Trp missense AIF1L 2 83370 2.39894E-5 41685 0 8.43142E-6
9-133993290-C-T p.Ser117Leu missense AIF1L 1 83364 1.19956E-5 41682 0 1.69202E-5
9-133993291-G-A p.Ser117Ser synonymous AIF1L 146 83354 0.00175157 41677 1 0.00430814
9-133993300-C-T p.Leu120Leu synonymous AIF1L 1 83354 1.1997E-5 41677 0 NA
9-133993302-A-G p.Lys121Arg missense AIF1L 1 83346 1.19982E-5 41673 0 NA
9-133995629-A-G p.Met125Val missense AIF1L 1709 82982 0.0205948 41491 32 0.025
9-133995634-T-C p.Ter47Argext*? stop_lost AIF1L 72 83086 8.66572E-4 41543 1 4.70232E-4
9-133995637-A-C p.Glu127Asp missense AIF1L 1 83112 1.2032E-5 41556 0 8.29834E-6
9-133995649-C-T p.Asn131Asn synonymous AIF1L 1 83062 1.20392E-5 41531 0 5.03525E-4
9-133995650-G-A p.Glu132Lys missense AIF1L 36 83074 4.33349E-4 41537 0 6.25E-4
9-133995669-T-C p.Val138Ala missense AIF1L 133 83150 0.00159952 41575 0 0.00186886
9-133995675-C-T p.Pro140Leu missense AIF1L 21 83128 2.52622E-4 41564 0 6.25E-4
9-133995687-G-C p.Arg144Thr missense AIF1L 2 83118 2.40622E-5 41559 0 6.38162E-5
9-133996491-C-T c.283-7C>T splice_region AIF1L 1 55208 1.81133E-5 27604 0 NA
9-133996498-G-A p.Gly95Arg missense+splice_region AIF1L 1 55230 1.81061E-5 27615 0 NA
9-133996501-GGT-AGA p.Gly96Arg missense AIF1L 1 55236 1.81041E-5 27618 0 NA
9-133996503-T-A p.Gly96Gly synonymous AIF1L 38797 54654 0.709866 27327 13982 0.808125
9-133996505-A-G p.Tyr97Cys missense AIF1L 1 55248 1.81002E-5 27624 0 6.79468E-6