Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-125822642-C-G p.Glu911Gln missense ALDH1L1 1 82636 1.21013E-5 41318 0 6.45066E-5
3-125822643-G-A p.Phe910Phe synonymous ALDH1L1 31 82668 3.74994E-4 41334 1 2.389E-4
3-125822660-C-T p.Val905Ile missense ALDH1L1 1 82642 1.21004E-5 41321 0 NA
3-125822660-C-A p.Val905Phe missense ALDH1L1 3 82642 3.63012E-5 41321 0 NA
3-125822663-G-A p.Arg904Trp missense ALDH1L1 2 82594 2.42148E-5 41297 0 0.00100806
3-125822672-C-G p.Glu901Gln missense ALDH1L1 1 82504 1.21206E-5 41252 0 NA
3-125822673-G-A p.Asn900Asn synonymous ALDH1L1 2 82468 2.42518E-5 41234 0 2.41932E-5
3-125822682-C-T p.Ala897Ala synonymous ALDH1L1 3 82578 3.63293E-5 41289 0 1.2747E-4
3-125822683-G-A p.Ala897Val missense ALDH1L1 1 82564 1.21118E-5 41282 0 9.24112E-6
3-125824587-CA-C p.Gly889fs frameshift ALDH1L1 1 83286 1.20068E-5 41643 0 NA
3-125824589-G-T p.Ser888Tyr missense ALDH1L1 1 83288 1.20065E-5 41644 0 NA
3-125824594-TT-AC p.Lys886Ser missense ALDH1L1 2 83298 2.40102E-5 41649 0 NA
3-125824595-T-C p.Lys886Arg missense ALDH1L1 53 83302 6.36239E-4 41651 0 5.03525E-4
3-125824605-C-T p.Gly883Arg missense ALDH1L1 1 83314 1.20028E-5 41657 0 8.23669E-6
3-125824606-G-A p.Phe882Phe synonymous ALDH1L1 3 83316 3.60075E-5 41658 0 0.00100705
3-125824614-C-T p.Ala880Thr missense ALDH1L1 2 83318 2.40044E-5 41659 0 8.23669E-5
3-125824615-G-A p.Ala879Ala synonymous ALDH1L1 8 83326 9.60085E-5 41663 0 5.76568E-5
3-125824621-G-A p.Asp877Asp synonymous ALDH1L1 1 83324 1.20013E-5 41662 0 3.18451E-5
3-125824624-G-A p.Thr876Thr synonymous ALDH1L1 5 83328 6.00038E-5 41664 0 3.18512E-5
3-125824626-T-C p.Thr876Ala missense ALDH1L1 1 83338 1.19993E-5 41669 0 NA
3-125824627-C-T p.Lys875Lys synonymous ALDH1L1 1 83344 1.19985E-5 41672 0 NA
3-125824630-G-A p.Asn874Asn synonymous ALDH1L1 1 83344 1.19985E-5 41672 0 1.64734E-5
3-125824636-C-T p.Thr872Thr synonymous ALDH1L1 2 83340 2.39981E-5 41670 0 1.64734E-5
3-125824637-G-A p.Thr872Met missense ALDH1L1 5 83344 5.99923E-5 41672 0 0.00125
3-125824642-G-A p.Val870Val synonymous ALDH1L1 1 83340 1.1999E-5 41670 0 NA
3-125824672-A-G p.Ser860Ser synonymous ALDH1L1 2 83318 2.40044E-5 41659 0 3.29468E-5
3-125824674-T-C p.Ser860Gly missense ALDH1L1 1 83320 1.20019E-5 41660 0 NA
3-125824691-T-C p.Asn854Ser missense ALDH1L1 2 83316 2.4005E-5 41658 0 8.23669E-6
3-125824701-T-C p.Arg851Gly missense ALDH1L1 1 83298 1.20051E-5 41649 0 NA
3-125824719-C-A p.Ala845Ser missense ALDH1L1 260 83250 0.00312312 41625 2 0.00643476
3-125824732-C-T p.Thr840Thr synonymous ALDH1L1 9 83228 1.08137E-4 41614 0 6.25E-4
3-125824733-G-A p.Thr840Met missense ALDH1L1 2 83228 2.40304E-5 41614 0 1.59082E-5
3-125824734-T-A p.Thr840Ser missense ALDH1L1 1 83226 1.20155E-5 41613 0 1.64783E-5
3-125824746-G-A p.Arg836Trp missense ALDH1L1 6 83184 7.21293E-5 41592 0 6.36943E-5
3-125824746-G-C p.Arg836Gly missense ALDH1L1 1 83184 1.20215E-5 41592 0 3.97776E-6
3-125824750-C-T p.Leu834Leu synonymous ALDH1L1 1 83158 1.20253E-5 41579 0 3.97804E-6
3-125824753-C-T p.Val833Val synonymous ALDH1L1 1 83120 1.20308E-5 41560 0 NA
3-125824755-C-T p.Val833Met missense ALDH1L1 8 83102 9.62672E-5 41551 0 1.40447E-4
3-125824756-G-A p.Ala832Ala synonymous ALDH1L1 1 83072 1.20378E-5 41536 0 2.22987E-4
3-125824774-G-A c.2484-6C>T splice_region ALDH1L1 1 82974 1.2052E-5 41487 0 NA
3-125825978-C-T c.2483+6G>A splice_region ALDH1L1 556 83038 0.00669573 41519 5 0.0146797
3-125825978-C-A c.2483+6G>T splice_region ALDH1L1 1 83060 1.20395E-5 41530 0 NA
3-125825996-C-T p.Arg824Gln missense ALDH1L1 3 83176 3.60681E-5 41588 0 4.37466E-5
3-125825997-G-A p.Arg824Trp missense ALDH1L1 1 83176 1.20227E-5 41588 0 1.19307E-5
3-125826003-T-C p.Ile822Val missense ALDH1L1 6076 83064 0.0731484 41532 259 0.0740181
3-125826018-C-T p.Gly817Arg missense ALDH1L1 2 83246 2.40252E-5 41623 0 3.18451E-5
3-125826019-G-A p.Phe816Phe synonymous ALDH1L1 3 83262 3.60308E-5 41631 0 5.03525E-4
3-125826031-C-T p.Lys812Lys synonymous ALDH1L1 1 83280 1.20077E-5 41640 0 NA
3-125826040-G-C p.Phe809Leu missense ALDH1L1 1 83282 1.20074E-5 41641 0 NA
3-125826048-G-A p.His807Tyr missense ALDH1L1 1 83280 1.20077E-5 41640 0 1.64783E-5
3-125826057-C-T p.Val804Met missense ALDH1L1 9 83248 1.08111E-4 41624 0 1.27348E-4
3-125826057-CGT-TGC p.AspVal803GlyMet missense ALDH1L1 1 83248 1.20123E-5 41624 0 NA
3-125826059-T-C p.Asp803Gly missense ALDH1L1 17580 82894 0.212078 41447 1929 0.239375
3-125826069-C-T p.Val800Ile missense ALDH1L1 6 83242 7.2079E-5 41621 0 7.95513E-6
3-125826069-C-G p.Val800Leu missense ALDH1L1 1 83242 1.20132E-5 41621 0 NA
3-125826071-G-T p.Thr799Asn missense ALDH1L1 1 83238 1.20137E-5 41619 0 NA
3-125826072-T-C p.Thr799Ala missense ALDH1L1 61 83240 7.32821E-4 41620 0 0.00181529
3-125826084-A-G p.Phe795Leu missense ALDH1L1 1 83160 1.2025E-5 41580 0 3.98111E-6
3-125826092-G-C c.2378-3C>G splice_region ALDH1L1 1 83084 1.2036E-5 41542 0 NA
3-125828779-T-G c.2377+8A>C splice_region ALDH1L1 2 82298 2.43019E-5 41149 0 2.48045E-5
3-125828782-C-T c.2377+5G>A splice_region ALDH1L1 140 82420 0.00169862 41210 0 0.00157807
3-125828792-C-T p.Arg791Gln missense ALDH1L1 3 82710 3.62713E-5 41355 0 6.37064E-5
3-125828797-G-A p.Val789Val synonymous ALDH1L1 47 82880 5.67085E-4 41440 0 7.92053E-4
3-125828800-C-T p.Gln788Gln synonymous ALDH1L1 192 82948 0.0023147 41474 1 0.00458657
3-125828809-G-A p.Gly785Gly synonymous ALDH1L1 4 83088 4.81417E-5 41544 0 6.37105E-5
3-125828811-C-T p.Gly785Ser missense ALDH1L1 1 83108 1.20325E-5 41554 0 1.64916E-5
3-125828812-G-A p.Cys784Cys synonymous ALDH1L1 1 83106 1.20328E-5 41553 0 3.18532E-5
3-125828815-G-C p.Val783Val synonymous ALDH1L1 2 83154 2.40518E-5 41577 0 NA
3-125828821-T-G p.Thr781Thr synonymous ALDH1L1 5 83154 6.01294E-5 41577 0 3.18471E-5
3-125828823-T-C p.Thr781Ala missense ALDH1L1 61 83164 7.3349E-4 41582 0 0.00125
3-125828833-C-T p.Lys777Lys synonymous ALDH1L1 2 83194 2.40402E-5 41597 0 7.95564E-6
3-125828838-C-T p.Val776Met missense ALDH1L1 6 83198 7.21171E-5 41599 0 1.5659E-4
3-125828856-C-T p.Glu770Lys missense ALDH1L1 7 83216 8.41184E-5 41608 0 1.27372E-4
3-125828859-T-A p.Met769Leu missense ALDH1L1 1 83234 1.20143E-5 41617 0 NA
3-125828868-C-T p.Val766Met missense ALDH1L1 2 83254 2.40229E-5 41627 0 7.41546E-5
3-125828890-C-T p.Pro758Pro synonymous ALDH1L1 7 83274 8.40599E-5 41637 0 8.35209E-5
3-125828891-G-A p.Pro758Leu missense ALDH1L1 3 83274 3.60256E-5 41637 0 1.19313E-5
3-125828893-C-G p.Gly757Gly synonymous ALDH1L1 12 83274 1.44103E-4 41637 0 6.25E-4
3-125828896-G-A p.His756His synonymous ALDH1L1 3 83280 3.60231E-5 41640 0 8.2394E-6
3-125828898-G-C p.His756Asp missense ALDH1L1 5 83278 6.00399E-5 41639 0 4.9434E-5
3-125828901-C-T p.Asp755Asn missense ALDH1L1 1 83272 1.20088E-5 41636 0 0.00100705
3-125828902-G-A p.Thr754Thr synonymous ALDH1L1 9 83262 1.08093E-4 41631 0 1.27429E-4
3-125828902-G-C p.Thr754Thr synonymous ALDH1L1 1 83262 1.20103E-5 41631 0 NA
3-125828903-G-A p.Thr754Ile missense ALDH1L1 1 83268 1.20094E-5 41634 0 3.18573E-5
3-125828907-C-T p.Asp753Asn missense ALDH1L1 1 83272 1.20088E-5 41636 0 NA
3-125828926-C-T p.Val746Val synonymous ALDH1L1 1 83260 1.20106E-5 41630 0 8.24334E-6
3-125828928-C-T p.Val746Met missense ALDH1L1 2 83254 2.40229E-5 41627 0 5.96754E-5
3-125828928-C-A p.Val746Leu missense ALDH1L1 1 83254 1.20114E-5 41627 0 NA
3-125828935-C-CT p.Met744fs frameshift ALDH1L1 1 83254 1.20114E-5 41627 0 NA
3-125828940-G-T p.Arg742Arg synonymous ALDH1L1 2 83230 2.40298E-5 41615 0 7.43237E-5
3-125828956-C-A c.2212-4G>T splice_region ALDH1L1 5 83156 6.0128E-5 41578 0 2.86606E-4
3-125831633-G-C p.Arg735Gly missense ALDH1L1 32 82774 3.86595E-4 41387 0 0.00251762
3-125831633-G-A p.Arg735Trp missense ALDH1L1 1 82774 1.20811E-5 41387 0 2.4793E-5
3-125831636-C-G p.Val734Leu missense ALDH1L1 2 82836 2.41441E-5 41418 0 2.47836E-5
3-125831637-G-A p.Phe733Phe synonymous ALDH1L1 4 82864 4.82719E-5 41432 0 5.03525E-4
3-125831663-C-G p.Val725Leu missense ALDH1L1 1 83078 1.20369E-5 41539 0 8.24974E-6
3-125831689-T-C p.Asn716Ser missense ALDH1L1 1 83108 1.20325E-5 41554 0 NA
3-125831693-C-G p.Glu715Gln missense ALDH1L1 5 83130 6.01468E-5 41565 0 6.37146E-5
3-125831701-T-C p.Asn712Ser missense ALDH1L1 1 83092 1.20349E-5 41546 0 NA
3-125831712-AGAACTCATCCCC-A p.Gly705fs frameshift ALDH1L1 2 82994 2.40981E-5 41497 0 NA
3-125831720-T-C p.Met706Val missense ALDH1L1 1 82862 1.20683E-5 41431 0 NA
3-125833399-C-T c.2112+1G>A splice_donor ALDH1L1 1 82052 1.21874E-5 41026 0 1.17102E-5
3-125833447-G-A p.Pro689Ser missense ALDH1L1 1 83084 1.2036E-5 41542 0 NA
3-125833456-C-T p.Gly686Arg missense ALDH1L1 1 83092 1.20349E-5 41546 0 5.58073E-6
3-125833457-G-A p.Gly685Gly synonymous ALDH1L1 2 83082 2.40726E-5 41541 0 4.52022E-5
3-125833483-C-T p.Val677Met missense ALDH1L1 1 83030 1.20438E-5 41515 0 1.27445E-4
3-125833484-G-T p.Asn676Lys missense ALDH1L1 1 83006 1.20473E-5 41503 0 NA
3-125833484-G-A p.Asn676Asn synonymous ALDH1L1 3 83006 3.6142E-5 41503 0 9.5584E-5
3-125833493-G-C p.Ala673Ala synonymous ALDH1L1 2 82918 2.41202E-5 41459 0 NA
3-125833503-CAAGG-C c.2013-8_2013-5delCCTT splice_region ALDH1L1 1 82778 1.20805E-5 41389 0 NA
3-125836843-C-T c.2012+5G>A splice_region ALDH1L1 2 80358 2.48886E-5 40179 0 1.9289E-5
3-125836844-G-A c.2012+4C>T splice_region ALDH1L1 1 80354 1.24449E-5 40177 0 3.18918E-5
3-125836859-G-A p.His667His synonymous ALDH1L1 1 81142 1.23241E-5 40571 0 NA
3-125836860-T-C p.His667Arg missense ALDH1L1 2 81128 2.46524E-5 40564 0 9.56206E-5
3-125836861-G-C p.His667Asp missense ALDH1L1 1 81178 1.23186E-5 40589 0 NA
3-125836862-C-T p.Lys666Lys synonymous ALDH1L1 163 81212 0.00200709 40606 0 0.005625
3-125836872-T-C p.Glu663Gly missense ALDH1L1 1 81308 1.22989E-5 40654 0 NA
3-125836880-G-A p.Gly660Gly synonymous ALDH1L1 20 81500 2.45399E-4 40750 1 5.04541E-4
3-125836891-C-T p.Gly657Arg missense ALDH1L1 2 81508 2.45375E-5 40754 0 1.99327E-5
3-125836892-G-A p.Ile656Ile synonymous ALDH1L1 3 81510 3.68053E-5 40755 0 1.6973E-5
3-125836906-C-T p.Asp652Asn missense ALDH1L1 1 81270 1.23047E-5 40635 0 NA
3-125836913-G-A p.Asp649Asp synonymous ALDH1L1 2 80980 2.46975E-5 40490 0 NA
3-125836914-T-C p.Asp649Gly missense ALDH1L1 2 80876 2.47292E-5 40438 0 7.98716E-6
3-125836930-C-T p.Gly644Ser missense ALDH1L1 1 80098 1.24847E-5 40049 0 8.01359E-6
3-125836931-G-A p.Val643Val synonymous ALDH1L1 5 79996 6.25031E-5 39998 0 1.5953E-4
3-125836933-C-G p.Val643Leu missense ALDH1L1 1 79950 1.25078E-5 39975 0 NA
3-125836937-G-A p.Ser641Ser synonymous ALDH1L1 5 79842 6.26237E-5 39921 0 0.004375
3-125836938-G-C p.Ser641Cys missense ALDH1L1 1 79754 1.25386E-5 39877 0 3.18776E-5
3-125836939-A-T p.Ser641Thr missense+splice_region ALDH1L1 2 79666 2.51048E-5 39833 0 NA
3-125836942-C-T c.1919-1G>A splice_acceptor ALDH1L1 1 79570 1.25676E-5 39785 0 1.20995E-5
3-125836946-G-A c.1919-5C>T splice_region ALDH1L1 1 79246 1.26189E-5 39623 0 NA
3-125836949-C-T c.1919-8G>A splice_region ALDH1L1 3 78524 3.82049E-5 39262 0 6.25E-4
3-125843222-C-T p.Val635Ile missense ALDH1L1 1 83088 1.20354E-5 41544 0 4.82195E-5
3-125843247-G-A p.Ala626Ala synonymous ALDH1L1 1 83262 1.20103E-5 41631 0 8.23655E-6
3-125843250-C-T p.Lys625Lys synonymous ALDH1L1 5 83282 6.0037E-5 41641 0 6.25E-4
3-125843267-C-A p.Ala620Ser missense ALDH1L1 3 83284 3.60213E-5 41642 0 8.23642E-6
3-125843278-G-A p.Ala616Val missense ALDH1L1 1 83258 1.20109E-5 41629 0 NA
3-125843281-G-T p.Thr615Lys missense ALDH1L1 1 83246 1.20126E-5 41623 0 NA
3-125843292-C-T p.Val611Val splice_region+synonymous ALDH1L1 1 83184 1.20215E-5 41592 0 1.64728E-5
3-125843294-C-T p.Val611Met missense+splice_region ALDH1L1 7 83162 8.41731E-5 41581 0 3.65851E-5
3-125843296-T-C c.1831-2A>G splice_acceptor ALDH1L1 1 83152 1.20262E-5 41576 0 NA
3-125843302-T-C c.1831-8A>G splice_region ALDH1L1 3 83092 3.61046E-5 41546 0 1.63007E-5
3-125844452-C-G c.1830+7G>C splice_region ALDH1L1 11 81840 1.34409E-4 40920 0 1.91083E-4
3-125844452-C-T c.1830+7G>A splice_region ALDH1L1 2 81840 2.44379E-5 40920 0 6.36943E-5
3-125844453-G-A c.1830+6C>T splice_region ALDH1L1 2 81754 2.44636E-5 40877 0 7.08077E-5
3-125844467-G-T p.Pro608Thr missense ALDH1L1 3 82426 3.63963E-5 41213 0 1.29554E-4
3-125844473-T-G p.Ile606Leu missense ALDH1L1 3 82458 3.63822E-5 41229 0 1.91107E-4
3-125844488-C-G p.Gly601Arg missense ALDH1L1 2 82558 2.42254E-5 41279 0 NA
3-125844488-C-T p.Gly601Arg missense ALDH1L1 4 82558 4.84508E-5 41279 0 3.18634E-5
3-125844489-G-A p.Ala600Ala synonymous ALDH1L1 4 82520 4.84731E-5 41260 0 3.18492E-5
3-125844492-A-G p.Ala599Ala synonymous ALDH1L1 1 82554 1.21133E-5 41277 0 NA
3-125844501-G-A p.Ala596Ala synonymous ALDH1L1 1 82578 1.21098E-5 41289 0 NA
3-125844510-C-T p.Lys593Lys synonymous ALDH1L1 1 82456 1.21277E-5 41228 0 8.48263E-6
3-125844540-C-T p.Trp583* stop_gained ALDH1L1 2 81460 2.45519E-5 40730 0 NA
3-125844557-C-T p.Gly578Ser missense ALDH1L1 1 79324 1.26065E-5 39662 0 1.75046E-5
3-125844564-C-T p.Gly575Gly splice_region+synonymous ALDH1L1 2 78340 2.55297E-5 39170 0 NA
3-125849063-C-T c.1724+3G>A splice_region ALDH1L1 2 82350 2.42866E-5 41175 0 4.41314E-5
3-125849089-G-C p.Thr567Thr synonymous ALDH1L1 2 82476 2.42495E-5 41238 0 1.91071E-4
3-125849090-G-A p.Thr567Ile missense ALDH1L1 1 82476 1.21247E-5 41238 0 1.7019E-5
3-125849099-C-T p.Arg564His missense ALDH1L1 4 82428 4.85272E-5 41214 0 0.00151057
3-125849100-G-A p.Arg564Cys missense ALDH1L1 1 82442 1.21297E-5 41221 0 5.03525E-4
3-125849144-A-G c.1654-8T>C splice_region ALDH1L1 1 81474 1.22739E-5 40737 0 1.6487E-5
3-125850221-C-T c.1653+6G>A splice_region ALDH1L1 1 82434 1.21309E-5 41217 0 NA
3-125850221-C-G c.1653+6G>C splice_region ALDH1L1 1 82434 1.21309E-5 41217 0 9.55292E-5
3-125850245-G-C p.Gly545Gly synonymous ALDH1L1 1 82778 1.20805E-5 41389 0 3.18512E-5
3-125850257-G-A p.Arg541Arg synonymous ALDH1L1 1 82800 1.20773E-5 41400 0 1.59519E-5
3-125850258-C-T p.Arg541His missense ALDH1L1 1 82788 1.2079E-5 41394 0 NA
3-125850259-G-A p.Arg541Cys missense ALDH1L1 3 82806 3.62293E-5 41403 0 1.65821E-5
3-125850277-T-C p.Met535Val missense ALDH1L1 2 82706 2.4182E-5 41353 0 6.36862E-5
3-125850280-C-T p.Gly534Ser missense ALDH1L1 1 82678 1.20951E-5 41339 0 3.98146E-6
3-125850283-C-T p.Val533Met missense ALDH1L1 2 82630 2.42043E-5 41315 0 1.99076E-5
3-125850284-G-A p.His532His synonymous ALDH1L1 2 82594 2.42148E-5 41297 0 2.47905E-5
3-125850295-G-A p.Leu529Leu synonymous ALDH1L1 1 82434 1.21309E-5 41217 0 7.96178E-6
3-125850299-C-T p.Leu527Leu synonymous ALDH1L1 4 82344 4.85767E-5 41172 0 3.1841E-5
3-125850302-C-T p.Thr526Thr synonymous ALDH1L1 2 82236 2.43202E-5 41118 0 3.18451E-5
3-125850303-G-A p.Thr526Met missense ALDH1L1 2 82218 2.43256E-5 41109 0 2.78671E-5
3-125850310-C-T p.Val524Ile missense ALDH1L1 3 81980 3.65943E-5 40990 0 4.13025E-5
3-125850311-G-A p.Ala523Ala synonymous ALDH1L1 9 81878 1.0992E-4 40939 0 1.59276E-4
3-125850312-G-A p.Ala523Val missense ALDH1L1 1 81806 1.2224E-5 40903 0 NA
3-125850318-G-A p.Ala521Val missense ALDH1L1 1 81534 1.22648E-5 40767 0 3.18451E-5
3-125850319-C-T p.Ala521Thr missense ALDH1L1 1 81518 1.22672E-5 40759 0 NA
3-125850323-C-T p.Leu519Leu synonymous ALDH1L1 1 81358 1.22914E-5 40679 0 NA
3-125850332-A-G p.Ile516Ile synonymous ALDH1L1 7 80968 8.64539E-5 40484 0 1.65248E-5
3-125850333-A-G p.Ile516Thr missense ALDH1L1 2 80952 2.4706E-5 40476 0 6.37146E-5
3-125850334-T-C p.Ile516Val missense ALDH1L1 2 80926 2.47139E-5 40463 0 4.13141E-5
3-125850335-G-A p.Thr515Thr synonymous ALDH1L1 2 80878 2.47286E-5 40439 0 1.65256E-5
3-125850349-C-A p.Glu511* stop_gained ALDH1L1 3 80160 3.74252E-5 40080 0 3.18471E-5
3-125850369-T-C p.Asp504Gly missense ALDH1L1 2 78774 2.53891E-5 39387 0 NA
3-125850370-C-T p.Asp504Asn missense ALDH1L1 1 78722 1.27029E-5 39361 0 6.36821E-5
3-125850381-A-G c.1503-4T>C splice_region ALDH1L1 45341 69994 0.647784 34997 14863 0.700338
3-125854371-C-A c.1502+7G>T splice_region ALDH1L1 2 81596 2.4511E-5 40798 0 NA
3-125854378-C-T p.Arg501Lys missense+splice_region ALDH1L1 2 82170 2.43398E-5 41085 0 3.18674E-5
3-125854378-C-A p.Arg501Met missense+splice_region ALDH1L1 1 82170 1.21699E-5 41085 0 2.47466E-5
3-125854390-C-T p.Arg497Gln missense ALDH1L1 9 82554 1.0902E-4 41277 0 0.00375
3-125854391-G-A p.Arg497Trp missense ALDH1L1 1 82548 1.21142E-5 41274 0 1.69316E-5
3-125854396-C-T p.Arg495Gln missense ALDH1L1 1 82744 1.20855E-5 41372 0 4.08367E-6
3-125854397-G-A p.Arg495Trp missense ALDH1L1 1 82724 1.20884E-5 41362 0 3.19E-5
3-125854402-C-T p.Arg493Gln missense ALDH1L1 8 82848 9.65624E-5 41424 0 6.37674E-5
3-125854403-G-A p.Arg493Trp missense ALDH1L1 3 82812 3.62266E-5 41406 0 1.6737E-5
3-125854404-C-T p.Ala492Ala synonymous ALDH1L1 143 82850 0.00172601 41425 0 0.0028677
3-125854406-C-T p.Ala492Thr missense ALDH1L1 4 82898 4.82521E-5 41449 0 2.50305E-5
3-125854409-T-C p.Ser491Gly missense ALDH1L1 12601 82664 0.152436 41332 978 0.142799
3-125854416-C-T p.Gly488Gly synonymous ALDH1L1 4 82884 4.82602E-5 41442 0 5.03525E-4
3-125854418-C-T p.Gly488Arg missense ALDH1L1 1 82918 1.20601E-5 41459 0 1.66378E-5
3-125854423-C-A p.Arg486Leu missense ALDH1L1 2 82898 2.4126E-5 41449 0 NA
3-125854423-C-T p.Arg486Gln missense ALDH1L1 2 82898 2.4126E-5 41449 0 2.08965E-5
3-125854438-G-T p.Ala481Asp missense ALDH1L1 1 82954 1.20549E-5 41477 0 NA
3-125854441-T-G p.Asp480Ala missense ALDH1L1 1 82966 1.20531E-5 41483 0 NA
3-125854451-C-T p.Ala477Thr missense ALDH1L1 1 82938 1.20572E-5 41469 0 4.28548E-5
3-125854451-C-G p.Ala477Pro missense ALDH1L1 1 82940 1.20569E-5 41470 0 NA
3-125854452-G-A p.Ala476Ala synonymous ALDH1L1 2 82930 2.41167E-5 41465 0 3.18654E-5
3-125854461-C-T p.Lys473Lys synonymous ALDH1L1 1 82952 1.20552E-5 41476 0 8.5533E-6
3-125854466-C-T p.Asp472Asn missense ALDH1L1 9 82908 1.08554E-4 41454 0 6.25E-4
3-125854467-G-A p.Val471Val synonymous ALDH1L1 4 82910 4.82451E-5 41455 0 3.18674E-5
3-125854469-C-T p.Val471Ile missense ALDH1L1 1 82858 1.20688E-5 41429 0 1.35516E-5
3-125854470-G-A p.Asp470Asp synonymous ALDH1L1 8 82866 9.65414E-5 41433 0 5.03525E-4
3-125854472-C-T p.Asp470Asn missense ALDH1L1 3 82866 3.6203E-5 41433 0 NA
3-125854473-G-A p.Thr469Thr synonymous ALDH1L1 7 82818 8.45227E-5 41409 0 1.73193E-5
3-125854473-G-T p.Thr469Thr synonymous ALDH1L1 1 82818 1.20747E-5 41409 0 9.10365E-6
3-125854482-G-A p.Ala466Ala synonymous ALDH1L1 1 82618 1.21039E-5 41309 0 9.26896E-6
3-125854487-G-C p.Leu465Val missense ALDH1L1 2 82668 2.41932E-5 41334 0 2.62394E-5
3-125854512-T-C c.1375-7A>G splice_region ALDH1L1 2 82362 2.4283E-5 41181 0 5.31779E-6
3-125855599-G-T c.1374+8C>A splice_region ALDH1L1 12595 79986 0.157465 39993 1018 0.192685
3-125855608-C-T p.Ser458Asn missense+splice_region ALDH1L1 42 81278 5.16745E-4 40639 0 0.00143422
3-125855615-C-T p.Asp456Asn missense ALDH1L1 2 81378 2.45767E-5 40689 0 3.2789E-5
3-125855616-G-A p.Thr455Thr synonymous ALDH1L1 32 81398 3.9313E-4 40699 0 0.00151668
3-125855623-T-C p.Asn453Ser missense ALDH1L1 1 81586 1.2257E-5 40793 0 3.18857E-5
3-125855633-C-T p.Glu450Lys missense ALDH1L1 1 81744 1.22333E-5 40872 0 NA
3-125855634-A-G p.Ser449Ser synonymous ALDH1L1 138 81770 0.00168766 40885 0 0.00605449
3-125855636-A-G p.Ser449Pro missense ALDH1L1 1 81774 1.22288E-5 40887 0 NA
3-125855640-C-T p.Lys447Lys synonymous ALDH1L1 3 81854 3.66506E-5 40927 0 NA
3-125855645-C-T p.Ala446Thr missense ALDH1L1 24 81898 2.93047E-4 40949 0 5.04541E-4
3-125855646-G-A p.Gly445Gly synonymous ALDH1L1 7 81878 8.5493E-5 40939 0 1.36203E-4
3-125855651-C-T p.Glu444Lys missense ALDH1L1 1 82042 1.21889E-5 41021 0 9.5584E-5
3-125855652-G-A p.Ala443Ala synonymous ALDH1L1 2 82002 2.43896E-5 41001 0 5.90644E-5
3-125855660-C-G p.Val441Leu missense ALDH1L1 1 82090 1.21818E-5 41045 0 1.63832E-5
3-125855660-C-A p.Val441Leu missense ALDH1L1 2 82090 2.43635E-5 41045 0 1.26142E-5
3-125855661-G-A p.Phe440Phe synonymous ALDH1L1 6 82094 7.3087E-5 41047 0 3.95557E-4
3-125855665-T-G p.Glu439Ala missense ALDH1L1 2305 81972 0.0281194 40986 189 0.0593594
3-125855667-C-A p.Gly438Gly synonymous ALDH1L1 2 82234 2.43208E-5 41117 0 1.37234E-5
3-125855670-C-T p.Gly437Gly synonymous ALDH1L1 1 82272 1.21548E-5 41136 0 NA
3-125855670-C-G p.Gly437Gly synonymous ALDH1L1 1 82272 1.21548E-5 41136 0 1.40432E-4
3-125855671-C-A p.Gly437Val missense ALDH1L1 2 82300 2.43013E-5 41150 0 5.01983E-5
3-125855671-C-G p.Gly437Ala missense ALDH1L1 4 82300 4.86027E-5 41150 0 1.88244E-4
3-125855672-C-T p.Gly437Arg missense ALDH1L1 1 82308 1.21495E-5 41154 0 8.16773E-6
3-125855673-A-G p.Ile436Ile synonymous ALDH1L1 1 82318 1.2148E-5 41159 0 6.37349E-5
3-125855674-A-G p.Ile436Thr missense ALDH1L1 5 82354 6.07135E-5 41177 0 5.03525E-4
3-125855688-G-A p.Pro431Pro synonymous ALDH1L1 1 82470 1.21256E-5 41235 0 NA
3-125855690-G-A p.Pro431Ser missense ALDH1L1 2 82496 2.42436E-5 41248 0 3.18634E-5
3-125855694-G-A p.Arg429Arg synonymous ALDH1L1 2 82494 2.42442E-5 41247 0 1.03025E-5
3-125855695-C-A p.Arg429Leu missense ALDH1L1 8 82484 9.69885E-5 41242 0 4.03952E-6
3-125855696-G-A p.Arg429Cys missense ALDH1L1 6 82508 7.27202E-5 41254 0 8.11804E-5
3-125855697-G-A p.Val428Val synonymous ALDH1L1 1 82506 1.21203E-5 41253 0 1.00802E-5
3-125855704-C-T p.Arg426His missense ALDH1L1 3 82418 3.63998E-5 41209 0 3.92519E-5
3-125855705-G-A p.Arg426Cys missense ALDH1L1 9 82408 1.09213E-4 41204 0 3.89355E-4
3-125855717-C-A p.Ala422Ser missense ALDH1L1 1 82412 1.21342E-5 41206 0 6.37308E-5
3-125855726-C-T p.Val419Met missense+splice_region ALDH1L1 234 82284 0.00284381 41142 1 0.00694577
3-125856656-G-A p.Tyr418Tyr splice_region+synonymous ALDH1L1 2 82634 2.42031E-5 41317 0 1.59236E-4
3-125856658-A-G p.Tyr418His missense+splice_region ALDH1L1 1 82698 1.20922E-5 41349 0 NA
3-125856661-C-T p.Asp417Asn missense ALDH1L1 3 82780 3.62406E-5 41390 0 2.49572E-5
3-125856663-A-G p.Ile416Thr missense ALDH1L1 2 82806 2.41528E-5 41403 0 5.04541E-4
3-125856673-C-T p.Glu413Lys missense ALDH1L1 5 82886 6.03238E-5 41443 0 3.98289E-5
3-125856677-C-A p.Glu411Asp missense ALDH1L1 10 82950 1.20555E-4 41475 0 2.78645E-5
3-125856680-C-T p.Glu410Glu synonymous ALDH1L1 1 83014 1.20462E-5 41507 0 NA
3-125856683-ATCG-A p.Asp409del disruptive_inframe_deletion ALDH1L1 1 82996 1.20488E-5 41498 0 NA
3-125856684-T-A p.Asp409Val missense ALDH1L1 1 83008 1.2047E-5 41504 0 NA
3-125856685-C-T p.Asp409Asn missense ALDH1L1 1 83022 1.2045E-5 41511 0 3.18471E-5
3-125856686-G-A p.Asp408Asp synonymous ALDH1L1 2 83034 2.40865E-5 41517 0 NA
3-125856688-C-G p.Asp408His missense ALDH1L1 20 83060 2.4079E-4 41530 0 9.66987E-4
3-125856688-C-A p.Asp408Tyr missense ALDH1L1 1 83060 1.20395E-5 41530 0 NA
3-125856691-C-T p.Gly407Arg missense ALDH1L1 3 83088 3.61063E-5 41544 0 5.96844E-5
3-125856693-CGC-TGA p.LeuArg405LeuGln missense ALDH1L1 2 83090 2.40703E-5 41545 0 NA
3-125856693-C-T p.Arg406Gln missense ALDH1L1 2 83090 2.40703E-5 41545 0 3.97864E-6
3-125856694-G-A p.Arg406* stop_gained ALDH1L1 2 83080 2.40732E-5 41540 0 8.24674E-6
3-125856695-C-A p.Leu405Leu synonymous ALDH1L1 15870 82770 0.191736 41385 1731 0.211575
3-125856698-C-T p.Lys404Lys synonymous ALDH1L1 1 83124 1.20302E-5 41562 0 NA
3-125856728-A-G p.Phe394Phe synonymous ALDH1L1 254 83208 0.00305259 41604 1 0.0069763
3-125856737-T-A p.Ala391Ala synonymous ALDH1L1 1 83224 1.20158E-5 41612 0 3.18573E-5
3-125856755-A-G p.Asn385Asn synonymous ALDH1L1 3 83228 3.60456E-5 41614 0 1.64889E-5
3-125856767-C-T p.Leu381Leu synonymous ALDH1L1 2 83210 2.40356E-5 41605 0 3.97776E-6
3-125856771-C-A p.Gly380Val missense ALDH1L1 3 83208 3.60542E-5 41604 0 6.37064E-5
3-125856773-A-G p.Asp379Asp synonymous ALDH1L1 1 83190 1.20207E-5 41595 0 NA
3-125856774-T-A p.Asp379Val missense ALDH1L1 9 83186 1.08191E-4 41593 0 1.11392E-4
3-125856778-A-G p.Cys378Arg missense ALDH1L1 1 83164 1.20244E-5 41582 0 3.97852E-6
3-125856783-T-C p.Glu376Gly missense ALDH1L1 1 83126 1.20299E-5 41563 0 NA
3-125856788-C-T p.Val374Val synonymous ALDH1L1 6 83102 7.22004E-5 41551 0 1.59266E-4
3-125856806-G-A c.1107-3C>T splice_region ALDH1L1 1 82914 1.20607E-5 41457 0 1.65494E-5
3-125856808-A-G c.1107-5T>C splice_region ALDH1L1 3 82886 3.61943E-5 41443 0 1.19477E-5
3-125865672-C-T c.1106+6G>A splice_region ALDH1L1 1 82918 1.20601E-5 41459 0 NA
3-125865685-C-T p.Val367Ile missense ALDH1L1 41 82966 4.94178E-4 41483 0 6.49139E-4
3-125865686-G-A p.Asp366Asp synonymous ALDH1L1 2 82980 2.41022E-5 41490 0 2.23015E-4
3-125865697-C-A p.Ala363Ser missense ALDH1L1 7 83010 8.43272E-5 41505 0 4.37762E-5
3-125865697-C-T p.Ala363Thr missense ALDH1L1 1 83010 1.20467E-5 41505 0 5.03525E-4
3-125865698-G-A p.Ala362Ala synonymous ALDH1L1 7 82996 8.43414E-5 41498 0 6.65967E-5
3-125865703-CT-C p.Ala362fs frameshift ALDH1L1 1 83028 1.20441E-5 41514 0 NA
3-125865708-T-C p.Lys359Arg missense ALDH1L1 2 83038 2.40854E-5 41519 0 1.66522E-5
3-125865723-G-A p.Ser354Phe missense ALDH1L1 34 83004 4.09619E-4 41502 0 2.82592E-4
3-125865734-C-A p.Glu350Asp missense ALDH1L1 1 82988 1.20499E-5 41494 0 8.3894E-6
3-125865735-T-C p.Glu350Gly missense ALDH1L1 4 82956 4.82183E-5 41478 0 5.17673E-5
3-125865749-G-A p.Leu345Leu synonymous ALDH1L1 1 82844 1.20709E-5 41422 0 8.5076E-6
3-125865756-C-T p.Arg343Gln missense ALDH1L1 176 82736 0.00212725 41368 2 0.00251762
3-125865766-C-A p.Val340Phe missense ALDH1L1 15184 81850 0.18551 40925 1561 0.205413
3-125865774-A-C c.1015-5T>G splice_region ALDH1L1 3 82466 3.63786E-5 41233 0 1.8707E-5
3-125869249-C-T p.Arg338Arg splice_region+synonymous ALDH1L1 2 80968 2.47011E-5 40484 0 6.40434E-6
3-125869250-C-T p.Arg338Gln missense+splice_region ALDH1L1 2 80966 2.47017E-5 40483 0 6.25782E-4
3-125869251-G-A p.Arg338Trp missense+splice_region ALDH1L1 2 80968 2.47011E-5 40484 0 6.40558E-6
3-125869260-C-G p.Glu335Gln missense ALDH1L1 1 81130 1.23259E-5 40565 0 3.18492E-5
3-125869261-C-T p.Ala334Ala synonymous ALDH1L1 10 81134 1.23253E-4 40567 0 0.00125
3-125869262-G-A p.Ala334Val missense ALDH1L1 13 81138 1.60221E-4 40569 0 7.67951E-5
3-125869279-C-T p.Glu328Glu synonymous ALDH1L1 1 81288 1.23019E-5 40644 0 3.1839E-5
3-125869291-A-G p.Leu324Leu synonymous ALDH1L1 3 81342 3.68813E-5 40671 0 1.27843E-5
3-125869308-C-A p.Ala319Ser missense ALDH1L1 1 81368 1.22898E-5 40684 0 6.39239E-6
3-125869324-C-T p.Ser313Ser synonymous ALDH1L1 3 81404 3.68532E-5 40702 0 NA
3-125869325-G-A p.Ser313Leu missense ALDH1L1 2 81404 2.45688E-5 40702 0 6.39149E-6
3-125869333-G-A p.Ile310Ile synonymous ALDH1L1 1 81412 1.22832E-5 40706 0 NA
3-125869337-A-G p.Met309Thr missense ALDH1L1 3 81402 3.68541E-5 40701 0 4.78973E-5
3-125869347-C-A p.Asp306Tyr missense ALDH1L1 1 81376 1.22886E-5 40688 0 NA
3-125869354-C-A p.Gln303His missense ALDH1L1 13 81322 1.59858E-4 40661 0 2.22902E-4
3-125869356-G-A p.Gln303* stop_gained ALDH1L1 1 81322 1.22968E-5 40661 0 9.55597E-5
3-125869375-C-T c.889-1G>A splice_acceptor ALDH1L1 2 81186 2.46348E-5 40593 0 NA
3-125869378-C-T c.889-4G>A splice_region ALDH1L1 1 81128 1.23262E-5 40564 0 NA
3-125872166-C-T p.Glu152Lys missense ALDH1L1 1 80540 1.24162E-5 40270 0 NA
3-125872172-T-A p.Thr150Ser missense ALDH1L1 1 80994 1.23466E-5 40497 0 NA
3-125872173-C-A p.Gln149His missense ALDH1L1 1 81102 1.23302E-5 40551 0 NA
3-125872176-G-T p.Asn148Lys missense ALDH1L1 1 81324 1.22965E-5 40662 0 1.27421E-4
3-125872196-AG-A p.Ser142fs frameshift ALDH1L1 1 82306 1.21498E-5 41153 0 NA
3-125872206-G-A p.Thr138Thr synonymous ALDH1L1 1 82620 1.21036E-5 41310 0 3.18471E-5
3-125872214-T-G p.Arg136Arg synonymous ALDH1L1 1 82782 1.20799E-5 41391 0 NA
3-125872236-A-G p.Pro128Pro synonymous ALDH1L1 11 83024 1.32492E-4 41512 0 6.37227E-5
3-125872239-A-C p.Ala127Ala synonymous ALDH1L1 4 83026 4.81777E-5 41513 1 NA
3-125872254-G-A p.Leu122Leu synonymous ALDH1L1 1 83154 1.20259E-5 41577 0 8.2713E-6
3-125872261-C-T p.Cys120Tyr missense ALDH1L1 5685 82910 0.0685683 41455 231 0.07125
3-125872276-C-T p.Arg115Gln missense ALDH1L1 6 83196 7.21189E-5 41598 0 2.23044E-4
3-125872277-G-A p.Arg115Trp missense ALDH1L1 34 83182 4.08742E-4 41591 0 0.00121997
3-125872277-G-T p.Arg115Arg synonymous ALDH1L1 1 83188 1.2021E-5 41594 0 NA
3-125872293-G-A p.Asp294Asp synonymous ALDH1L1 5736 83068 0.0690519 41534 238 0.0981873
3-125872299-A-G p.Asn292Asn synonymous ALDH1L1 1 83248 1.20123E-5 41624 0 NA
3-125872342-C-T p.Arg278Gln missense ALDH1L1 1 83300 1.20048E-5 41650 0 1.97694E-4
3-125872345-T-C p.His277Arg missense ALDH1L1 1 83304 1.20042E-5 41652 0 NA
3-125872351-C-T p.Gly275Glu missense ALDH1L1 1 83312 1.20031E-5 41656 0 NA
3-125872359-G-A p.Pro272Pro synonymous ALDH1L1 4 83326 4.80042E-5 41663 0 1.64753E-5
3-125872366-G-T p.Ala270Asp missense ALDH1L1 15 83322 1.80024E-4 41661 0 0.0020141
3-125872367-C-G p.Ala270Pro missense ALDH1L1 1 83316 1.20025E-5 41658 0 NA
3-125872367-C-A p.Ala270Ser missense ALDH1L1 1 83316 1.20025E-5 41658 0 NA
3-125872368-G-A p.Asp269Asp synonymous ALDH1L1 5 83322 6.00082E-5 41661 0 3.18532E-5
3-125872373-C-T p.Gly268Arg missense ALDH1L1 2 83328 2.40015E-5 41664 0 3.97741E-6
3-125872374-C-T p.Glu267Glu synonymous ALDH1L1 1 83332 1.20002E-5 41666 0 3.18471E-5
3-125872376-C-T p.Glu267Lys missense ALDH1L1 12 83332 1.44002E-4 41666 0 6.25E-4
3-125872377-G-A p.Pro266Pro synonymous ALDH1L1 3 83328 3.60023E-5 41664 0 3.18735E-5
3-125872384-A-G p.Leu264Pro missense ALDH1L1 4123 83266 0.049516 41633 131 0.0589959
3-125872384-A-T p.Leu264Gln missense ALDH1L1 1 83332 1.20002E-5 41666 0 NA
3-125872385-G-C p.Leu264Val missense ALDH1L1 5 83334 5.99995E-5 41667 0 3.97981E-6
3-125872393-G-A p.Thr261Ile missense ALDH1L1 3 83332 3.60006E-5 41666 0 NA
3-125872399-A-C p.Leu259Arg missense ALDH1L1 1 83314 1.20028E-5 41657 0 3.18471E-5
3-125872416-T-C p.Thr253Thr synonymous ALDH1L1 160 83292 0.00192095 41646 0 0.00494134
3-125872421-G-C p.Leu252Val missense ALDH1L1 10 83292 1.2006E-4 41646 0 1.2734E-4
3-125872427-G-A c.751-3C>T splice_region ALDH1L1 2 83272 2.40177E-5 41636 0 NA
3-125873390-G-C c.750+7C>G splice_region ALDH1L1 2 82822 2.41482E-5 41411 0 NA
3-125873396-C-T c.750+1G>A splice_donor ALDH1L1 1 82838 1.20718E-5 41419 0 3.98004E-6
3-125873424-C-T p.Pro241Pro synonymous ALDH1L1 19 82798 2.29474E-4 41399 0 9.55414E-5
3-125873425-G-A p.Pro241Leu missense ALDH1L1 2 82788 2.41581E-5 41394 0 3.18512E-5
3-125873429-C-A p.Val240Leu missense ALDH1L1 1 82832 1.20726E-5 41416 0 NA
3-125873435-C-T p.Asp238Asn missense ALDH1L1 1 82794 1.20782E-5 41397 0 3.18552E-5
3-125873436-G-A p.Asn237Asn synonymous ALDH1L1 4 82792 4.83138E-5 41396 0 2.63835E-4
3-125873442-G-A p.Arg235Arg synonymous ALDH1L1 11 82766 1.32905E-4 41383 0 6.25E-4
3-125873443-C-T p.Arg235His missense ALDH1L1 2 82754 2.4168E-5 41377 0 1.649E-5
3-125873444-G-A p.Arg235Cys missense ALDH1L1 1 82744 1.20855E-5 41372 0 8.24565E-6
3-125873463-C-T c.352-1G>A splice_acceptor ALDH1L1 38 82734 4.59303E-4 41367 2 0.003125
3-125873469-C-T c.352-7G>A splice_region ALDH1L1 4 82624 4.84121E-5 41312 0 6.37349E-5
3-125873476-T-C p.Asp224Gly missense ALDH1L1 2 82556 2.4226E-5 41278 0 3.18837E-5
3-125873478-C-G p.Trp223Cys missense ALDH1L1 1 82554 1.21133E-5 41277 0 3.18735E-5
3-125873489-G-A c.661-3C>T splice_region ALDH1L1 2 82412 2.42683E-5 41206 0 3.97937E-6
3-125873491-G-A c.661-5C>T splice_region ALDH1L1 60 82380 7.28332E-4 41190 0 0.00380172
3-125874251-T-C p.Thr218Thr synonymous ALDH1L1 2 82812 2.41511E-5 41406 0 8.00987E-6
3-125874252-G-A p.Thr218Ile missense ALDH1L1 1 82828 1.20732E-5 41414 0 NA
3-125874257-C-T p.Lys216Lys synonymous ALDH1L1 11 82860 1.32754E-4 41430 0 2.86533E-4
3-125874271-C-T p.Gly212Arg missense ALDH1L1 1 82932 1.20581E-5 41466 0 NA
3-125874272-C-T p.Glu211Glu synonymous ALDH1L1 1 82940 1.20569E-5 41470 0 8.00295E-6
3-125874278-G-A p.Thr209Thr synonymous ALDH1L1 1 82938 1.20572E-5 41469 0 3.31044E-5
3-125874279-G-A p.Thr209Ile missense ALDH1L1 3 82932 3.61742E-5 41466 0 3.18451E-5
3-125874290-C-G p.Glu205Asp missense ALDH1L1 1 82940 1.20569E-5 41470 0 NA
3-125874307-TG-T p.Arg200fs frameshift ALDH1L1 2 82844 2.41418E-5 41422 0 4.00048E-5
3-125874326-G-A p.Ile193Ile synonymous ALDH1L1 2 82722 2.41774E-5 41361 0 2.50526E-5
3-125874333-C-G p.Arg191Thr missense ALDH1L1 3 82706 3.62731E-5 41353 0 9.24106E-5
3-125874337-C-T p.Val190Met missense ALDH1L1 1 82630 1.21021E-5 41315 0 8.06543E-6
3-125874338-G-A n.254C>T splice_region ALDH1L1 3 82604 3.63179E-5 41302 0 5.03525E-4
3-125874346-C-T p.Val187Met missense+splice_region ALDH1L1 1 82472 1.21253E-5 41236 0 4.49383E-5
3-125876194-T-C p.Lys184Glu missense ALDH1L1 1 83052 1.20406E-5 41526 0 NA
3-125876216-G-A p.Arg176Arg synonymous ALDH1L1 3 83212 3.60525E-5 41606 0 8.26774E-6
3-125876217-C-T p.Arg176His missense ALDH1L1 2 83204 2.40373E-5 41602 0 NA
3-125876218-G-A p.Arg176Cys missense ALDH1L1 1 83210 1.20178E-5 41605 0 NA
3-125876223-T-C p.Tyr174Cys missense ALDH1L1 2 83218 2.40333E-5 41609 0 NA
3-125876228-C-T p.Thr172Thr synonymous ALDH1L1 13 83222 1.56209E-4 41611 0 6.20762E-4
3-125876232-C-G p.Ser171Thr missense ALDH1L1 2 83246 2.40252E-5 41623 0 3.18817E-5
3-125876236-C-A p.Val170Leu missense ALDH1L1 2 83250 2.4024E-5 41625 0 NA
3-125876259-C-G p.Cys162Ser missense ALDH1L1 1 83270 1.20091E-5 41635 0 8.24198E-6
3-125876261-C-A p.Glu161Asp missense ALDH1L1 1 83278 1.2008E-5 41639 0 3.97687E-6
3-125876263-C-T p.Glu161Lys missense ALDH1L1 2 83276 2.40165E-5 41638 0 8.24212E-6
3-125876267-C-T p.Arg71Lys missense ALDH1L1 1 83290 1.20062E-5 41645 0 1.59077E-5
3-125876273-C-A p.Cys69Phe missense ALDH1L1 83 83262 9.96853E-4 41631 1 0.00302606
3-125876284-C-T p.Gly154Arg missense ALDH1L1 14 83248 1.68172E-4 41624 0 4.94821E-5
3-125876285-G-T p.Pro65Gln missense ALDH1L1 104 83206 0.00124991 41603 1 0.00125
3-125876297-A-G p.Met61Thr missense ALDH1L1 3 83194 3.60603E-5 41597 0 1.65074E-5
3-125876303-C-G p.Arg59Pro missense ALDH1L1 3 83118 3.60933E-5 41559 0 1.19367E-5
3-125876304-G-A p.Ala147Val missense ALDH1L1 1 83046 1.20415E-5 41523 0 3.18817E-5
3-125876305-C-T p.Ala147Thr missense ALDH1L1 1 83038 1.20427E-5 41519 0 3.97937E-6
3-125876306-C-T p.Trp146* stop_gained ALDH1L1 1 83024 1.20447E-5 41512 0 7.16327E-5
3-125876312-G-T p.Ser56Tyr missense ALDH1L1 1 82952 1.20552E-5 41476 0 4.13661E-5
3-125876320-A-C p.Phe142Val missense ALDH1L1 1 82612 1.21048E-5 41306 0 8.28858E-6
3-125876321-C-G p.Gly53Ala missense ALDH1L1 37 82596 4.47964E-4 41298 0 4.46315E-4
3-125876336-T-G p.Glu48Ala missense ALDH1L1 3 81644 3.67449E-5 40822 0 3.336E-5
3-125876338-C-T p.Gly136Arg missense ALDH1L1 3 81376 3.68659E-5 40688 0 1.19857E-5
3-125876339-G-A p.Thr47Met missense ALDH1L1 1 81316 1.22977E-5 40658 0 3.99754E-6
3-125876348-G-T p.Pro44His missense ALDH1L1 19 80138 2.37091E-4 40069 0 6.25E-4
3-125876349-G-T p.Thr132Asn missense+splice_region ALDH1L1 2 79980 2.50063E-5 39990 0 4.00966E-6
3-125877240-C-T c.392+8G>A splice_region ALDH1L1 1 82356 1.21424E-5 41178 0 3.36746E-5
3-125877253-G-A c.351+6C>T splice_region ALDH1L1 42 82516 5.08992E-4 41258 0 0.00124283
3-125877255-T-C p.Ile129Val missense ALDH1L1 1 82506 1.21203E-5 41253 0 4.50966E-6
3-125877258-C-A c.351+1G>T splice_donor ALDH1L1 3 82466 3.63786E-5 41233 0 2.35073E-5
3-125877259-C-G p.Ser117Ser splice_region+synonymous ALDH1L1 2 82478 2.42489E-5 41239 0 8.82636E-6
3-125877259-C-T p.Ser117Ser splice_region+synonymous ALDH1L1 1 82478 1.21244E-5 41239 0 2.27015E-5
3-125877260-G-A p.Ser117Leu missense+splice_region ALDH1L1 39 82538 4.7251E-4 41269 0 3.54181E-4
3-125877264-C-T p.Ala126Thr missense ALDH1L1 7 82496 8.48526E-5 41248 0 7.9694E-4
3-125877265-C-T p.Gly125Gly synonymous ALDH1L1 4 82602 4.8425E-5 41301 0 4.23237E-6
3-125877269-C-T p.Arg124Gln missense ALDH1L1 2 82678 2.41902E-5 41339 0 4.98405E-5
3-125877270-G-A p.Arg124* stop_gained ALDH1L1 19 82694 2.29763E-4 41347 0 5.04032E-4
3-125877290-G-A p.Pro117Leu missense ALDH1L1 56 82898 6.75529E-4 41449 0 8.18152E-4
3-125877301-G-T p.Ile113Ile synonymous ALDH1L1 1 83050 1.20409E-5 41525 0 4.00333E-6
3-125877310-A-G p.His100His splice_region+synonymous ALDH1L1 1 83104 1.20331E-5 41552 0 9.14478E-6
3-125877314-C-T p.Arg109Gln missense ALDH1L1 20 83118 2.40622E-4 41559 1 0.0025
3-125877314-C-CG p.Arg109fs frameshift ALDH1L1 1 83104 1.20331E-5 41552 0 3.58551E-5
3-125877319-G-A p.Ala107Ala synonymous ALDH1L1 2 83166 2.40483E-5 41583 0 8.70095E-6
3-125877320-G-A p.Ala107Val missense ALDH1L1 1 83168 1.20239E-5 41584 0 1.73322E-5
3-125877324-T-C p.Ser106Gly missense ALDH1L1 4 83198 4.80781E-5 41599 0 7.96331E-6
3-125877330-T-C p.Ile104Val missense ALDH1L1 1 83240 1.20135E-5 41620 0 NA
3-125877366-C-T p.Val92Ile missense ALDH1L1 13 83320 1.56025E-4 41660 0 1.91168E-4
3-125877367-G-A p.Asn91Asn synonymous ALDH1L1 4 83316 4.801E-5 41658 0 5.77367E-5
3-125877376-G-A p.Ala88Ala synonymous ALDH1L1 263 83330 0.00315613 41665 2 0.010574
3-125877381-C-T p.Gly87Arg missense ALDH1L1 4 83348 4.79916E-5 41674 0 1.19307E-5
3-125877385-A-T p.Ala85Ala synonymous ALDH1L1 22 83354 2.63935E-4 41677 0 0.00352467
3-125877388-C-G p.Gln84His missense ALDH1L1 3 83352 3.59919E-5 41676 0 1.59071E-5
3-125877390-G-C p.Gln84Glu missense ALDH1L1 1 83352 1.19973E-5 41676 0 NA
3-125877410-G-A p.Pro77Leu missense ALDH1L1 1 83310 1.20034E-5 41655 0 NA
3-125877424-T-A p.Lys72Asn missense ALDH1L1 1 83276 1.20083E-5 41638 0 NA
3-125877427-T-A p.Ala71Ala synonymous ALDH1L1 26 83250 3.12312E-4 41625 0 2.86752E-4
3-125877431-C-T p.Arg70His missense ALDH1L1 7 83218 8.41164E-5 41609 0 0.00125
3-125877432-G-A p.Arg70Cys missense ALDH1L1 2 83218 2.40333E-5 41609 0 9.55901E-5
3-125877438-G-A p.Arg68Trp missense ALDH1L1 2 83168 2.40477E-5 41584 0 5.7673E-5
3-125877440-G-C p.Ser67Cys missense ALDH1L1 1 83164 1.20244E-5 41582 0 3.98038E-6
3-125877454-C-T p.Pro62Pro synonymous ALDH1L1 3 83006 3.6142E-5 41503 0 3.18634E-5
3-125877455-G-A p.Pro62Leu missense ALDH1L1 5 82970 6.02627E-5 41485 0 1.27486E-4
3-125877460-T-C p.Gly60Gly synonymous ALDH1L1 2 82898 2.4126E-5 41449 0 3.98705E-6
3-125878221-C-T c.*167+5G>A splice_region ALDH1L1 1 51354 1.94727E-5 25677 0 NA
3-125878224-A-ACAGTGGCAG c.*167+1_*167+2insCTGCCACTG splice_donor ALDH1L1 1 51356 1.94719E-5 25678 0 NA
3-125878228-T-C c.*165A>G splice_region ALDH1L1 1 51362 1.94696E-5 25681 0 6.25E-4
3-125878405-G-C p.Thr44Thr synonymous ALDH1L1 1 51346 1.94757E-5 25673 0 7.4782E-6
3-125878415-A-G c.128-6T>C splice_region ALDH1L1 10 51330 1.94818E-4 25665 0 1.91266E-4
3-125878417-T-C c.128-8A>G splice_region ALDH1L1 2 51334 3.89605E-5 25667 0 NA
3-125879693-C-T c.157+3G>A splice_region ALDH1L1 5 83276 6.00413E-5 41638 0 NA
3-125879703-G-T p.Asp50Glu missense ALDH1L1 40 83304 4.80169E-4 41652 0 6.25E-4
3-125879703-G-A p.Asp50Asp synonymous ALDH1L1 2 83306 2.40079E-5 41653 0 3.98575E-6
3-125879705-C-T p.Asp50Asn missense ALDH1L1 5 83310 6.00168E-5 41655 0 5.03525E-4
3-125879706-G-A c.-174C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 1 83306 1.20039E-5 41653 0 8.29421E-6
3-125879709-C-T p.Lys48Lys synonymous ALDH1L1 1 83318 1.20022E-5 41659 0 NA
3-125879717-C-T p.Asp46Asn missense ALDH1L1 1 83330 1.20005E-5 41665 0 NA
3-125879726-G-A p.Pro43Ser missense ALDH1L1 2 83338 2.39987E-5 41669 0 8.24906E-6
3-125879740-C-T p.Gly38Asp missense ALDH1L1 1 83346 1.19982E-5 41673 0 NA
3-125879741-C-G p.Gly38Arg missense ALDH1L1 2 83346 2.39964E-5 41673 0 NA
3-125879744-C-A p.Val37Leu missense ALDH1L1 1 83352 1.19973E-5 41676 0 NA
3-125879750-C-T p.Glu35Lys missense ALDH1L1 1 83350 1.19976E-5 41675 0 8.23981E-6
3-125879751-G-A c.-219C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 4 83352 4.79893E-5 41676 0 4.37438E-5
3-125879755-C-T p.Gly33Asp missense ALDH1L1 415 83344 0.00497936 41672 0 0.0075
3-125879757-C-T p.Glu32Glu synonymous ALDH1L1 1 83354 1.1997E-5 41677 0 7.95317E-6
3-125879771-G-T p.His28Asn missense ALDH1L1 10 83348 1.19979E-4 41674 0 1.59195E-4
3-125879777-A-G p.Tyr26His missense ALDH1L1 1 83350 1.19976E-5 41675 0 3.97652E-6
3-125879789-C-A p.Gly22Cys missense ALDH1L1 1 83340 1.1999E-5 41670 0 8.24049E-6
3-125879792-ACAGGCTCTGTCCAAT-A p.Ile16_Leu20del conservative_inframe_deletion ALDH1L1 1 83342 1.19988E-5 41671 0 3.97678E-6
3-125879795-G-A c.-263C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 3 83336 3.59988E-5 41668 0 1.64807E-5
3-125879800-T-C p.Gln18Arg missense ALDH1L1 1 83340 1.1999E-5 41670 0 7.95368E-6
3-125879813-C-T p.Ala14Thr missense ALDH1L1 1 83328 1.20008E-5 41664 0 NA
3-125879815-A-G p.Ile13Thr missense ALDH1L1 1 83322 1.20016E-5 41661 0 8.24742E-6
3-125879839-G-A p.Ser5Phe missense ALDH1L1 1 83278 1.2008E-5 41639 0 2.38863E-5
3-125879842-G-T p.Pro4His missense ALDH1L1 1 83264 1.201E-5 41632 0 1.59226E-4
3-125899151-G-C c.-24+4C>G splice_region ALDH1L1 2 64874 3.0829E-5 32437 0 NA
3-125899155-C-G c.-24G>C splice_region ALDH1L1 1 65442 1.52807E-5 32721 0 NA
3-125899157-C-G c.-26G>C splice_region ALDH1L1 1 65612 1.52411E-5 32806 0 NA
3-125899175-G-A c.-44C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 1 67044 1.49156E-5 33522 0 NA
3-125899178-G-A c.-47C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 131 67276 0.0019472 33638 0 0.00197704
3-125899243-G-A c.-112C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 4 67324 5.94142E-5 33662 0 6.37796E-5
3-125899264-G-A c.-133C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 3 66180 4.53309E-5 33090 0 NA
3-125899284-G-A c.-153C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 2 63930 3.12842E-5 31965 0 NA
3-125899316-C-A c.-24+3G>T splice_region ALDH1L1 1 58454 1.71075E-5 29227 0 NA
3-125899347-G-A c.-52C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 1 51356 1.94719E-5 25678 0 NA
3-125899551-G-T c.-256C>A 5_prime_UTR_premature_start_codon_gain ALDH1L1 1 60006 1.6665E-5 30003 0 NA
3-125899556-C-G c.-261G>C 5_prime_UTR_premature_start_codon_gain ALDH1L1 1 62544 1.59887E-5 31272 0 NA
3-125899603-G-A c.-308C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 2 75004 2.66652E-5 37502 0 3.18431E-5
3-125899632-A-G c.-337T>C 5_prime_UTR_premature_start_codon_gain ALDH1L1 1 76804 1.30202E-5 38402 0 NA
3-125899708-T-A c.-89A>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 1007 76822 0.0131082 38411 33 0.026118
3-125899750-A-C c.-131T>G 5_prime_UTR_premature_start_codon_gain ALDH1L1 1 77118 1.29671E-5 38559 0 NA
3-125899755-G-A c.-136C>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 1 77238 1.2947E-5 38619 0 NA
3-125899866-C-A c.-55G>T 5_prime_UTR_premature_start_codon_gain ALDH1L1 4 76236 5.24687E-5 38118 0 NA
3-125916778-A-G c.-224T>C 5_prime_UTR_premature_start_codon_gain ALDH1L1 2 2 1.0 1 1 0.447493