Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
13-52586545-T-TCGGCGGAAGATGGCGGC p.Glu5fs frameshift ALG11 1 82762 1.20828E-5 41381 0 1.57436E-4
13-52586550-G-T c.-5G>T 5_prime_UTR_premature_start_codon_gain ALG11 1 82846 1.20706E-5 41423 0 NA
13-52586560-G-A p.Ala2Ala synonymous ALG11 1 82946 1.2056E-5 41473 0 3.18573E-5
13-52586564-G-A p.Gly4Ser missense ALG11 23 82930 2.77342E-4 41465 0 2.26945E-4
13-52586568-A-G p.Glu5Gly missense ALG11 3 82870 3.62013E-5 41435 0 6.37146E-5
13-52586570-A-G p.Arg6Gly missense ALG11 1 82918 1.20601E-5 41459 0 NA
13-52586573-A-G p.Ser7Gly missense ALG11 1 82886 1.20648E-5 41443 0 2.78791E-5
13-52586577-G-C p.Trp8Ser missense ALG11 1 82900 1.20627E-5 41450 0 5.80191E-5
13-52586580-G-T p.Cys9Phe missense ALG11 12 82876 1.44795E-4 41438 0 9.95818E-5
13-52586580-G-A p.Cys9Tyr missense ALG11 5 82876 6.03311E-5 41438 0 1.27437E-4
13-52586580-G-C p.Cys9Ser missense ALG11 2 82876 2.41324E-5 41438 0 3.18593E-5
13-52586581-C-T p.Cys9Cys synonymous ALG11 3 82852 3.62091E-5 41426 0 1.99168E-5
13-52586581-C-G p.Cys9Trp missense ALG11 1 82852 1.20697E-5 41426 0 6.37186E-5
13-52586582-C-T p.Leu10Leu synonymous ALG11 1 82866 1.20677E-5 41433 0 1.19506E-5
13-52586582-C-A p.Leu10Met missense ALG11 4 82866 4.82707E-5 41433 0 9.55962E-5
13-52586582-C-G p.Leu10Val missense ALG11 1 82866 1.20677E-5 41433 0 8.29105E-6
13-52586583-T-G p.Leu10Arg missense ALG11 2 82872 2.41336E-5 41436 0 3.98359E-6
13-52586602-A-C c.44+4A>C splice_region ALG11 1 82680 1.20948E-5 41340 0 NA
13-52586605-A-G c.44+7A>G splice_region ALG11 3 82716 3.62687E-5 41358 0 7.97188E-6
13-52586605-A-T c.44+7A>T splice_region ALG11 2 82716 2.41791E-5 41358 0 3.1841E-5
13-52593046-C-A c.45-3C>A splice_region ALG11 2 83118 2.40622E-5 41559 0 8.29215E-6
13-52593047-A-T c.45-2A>T splice_acceptor ALG11 1 83140 1.20279E-5 41570 0 8.28844E-6
13-52593076-G-A p.Gly24Gly synonymous ALG11 1 83274 1.20085E-5 41637 0 3.18979E-5
13-52593077-C-T p.Leu25Phe missense ALG11 2 83270 2.40183E-5 41635 0 3.97728E-6
13-52593087-G-A p.Cys28Tyr missense ALG11 1 83292 1.2006E-5 41646 0 3.97703E-6
13-52593104-T-C p.Cys34Arg missense ALG11 2 83310 2.40067E-5 41655 0 8.23737E-6
13-52593105-G-A p.Cys34Tyr missense ALG11 2 83312 2.40061E-5 41656 0 9.56572E-5
13-52593114-T-A p.Ile37Asn missense ALG11 1 83314 1.20028E-5 41657 0 NA
13-52593114-T-C p.Ile37Thr missense ALG11 1 83314 1.20028E-5 41657 0 3.18451E-5
13-52593116-G-T p.Val38Phe missense ALG11 3 83320 3.60058E-5 41660 0 NA
13-52593128-A-G p.Ile42Val missense ALG11 2 83312 2.40061E-5 41656 0 9.94202E-5
13-52593165-C-T p.Ser54Leu missense ALG11 2 83314 2.40056E-5 41657 0 NA
13-52593168-C-G p.Thr55Ser missense ALG11 1 83326 1.20011E-5 41663 0 8.23696E-6
13-52593177-A-T p.Asn58Ile missense ALG11 147 83328 0.00176411 41664 0 0.00325131
13-52593181-G-GA p.Asn61fs frameshift ALG11 1 83332 1.20002E-5 41666 0 NA
13-52593195-T-C p.Val64Ala missense ALG11 1 83338 1.19993E-5 41669 0 NA
13-52593202-A-AT p.His69fs frameshift ALG11 1 83330 1.20005E-5 41665 0 3.97709E-6
13-52593214-A-G p.Pro70Pro synonymous ALG11 1 83322 1.20016E-5 41661 0 1.19299E-5
13-52593217-C-T p.Tyr71Tyr synonymous ALG11 1 83320 1.20019E-5 41660 0 3.18634E-5
13-52593222-A-G p.Asn73Ser missense ALG11 3 83306 3.60118E-5 41653 0 6.37146E-5
13-52593229-T-C p.Gly75Gly synonymous ALG11 1 83284 1.20071E-5 41642 0 0.00235804
13-52593239-GAA-G p.Arg80fs frameshift ALG11 1 83248 1.20123E-5 41624 0 NA
13-52593239-G-A p.Glu79Lys missense ALG11 1 83248 1.20123E-5 41624 0 7.95437E-6
13-52593255-G-A p.Cys84Tyr missense ALG11 1 83168 1.20239E-5 41584 0 NA
13-52593260-T-G p.Leu86Val missense ALG11 26 83154 3.12673E-4 41577 0 2.86917E-4
13-52593264-G-C p.Arg87Thr missense ALG11 2 83116 2.40628E-5 41558 0 NA
13-52593279-A-AACGGAGTTTCACACTTGTTGCCCAGGCAGGAGTGCAGTGGTGCAGTCTCG c.275_275+1insACGGAGTTTCACACTTGTTGCCCAGGCAGGAGTGCAGTGGTGCAGTCTCG splice_donor ALG11 1 82894 1.20636E-5 41447 0 NA
13-52597916-G-A n.3211+1G>A splice_donor ALG11 5 7296 6.85307E-4 3648 0 7.64415E-4
13-52598145-T-C p.Tyr93Tyr synonymous ALG11 1 83164 1.20244E-5 41582 0 NA
13-52598164-G-A p.Val100Ile missense ALG11 1 83292 1.2006E-5 41646 0 3.97795E-6
13-52598165-T-C p.Val100Ala missense ALG11 2 83288 2.40131E-5 41644 0 7.95596E-6
13-52598171-C-T p.Thr102Ile missense ALG11 2 83286 2.40136E-5 41643 0 2.4726E-5
13-52598172-C-T p.Thr102Thr synonymous ALG11 2 83298 2.40102E-5 41649 0 2.47251E-5
13-52598175-C-A p.Gly103Gly synonymous ALG11 2 83304 2.40085E-5 41652 0 NA
13-52598176-G-A p.Asp104Asn missense ALG11 2 83308 2.40073E-5 41654 0 8.24049E-6
13-52598183-A-AT p.Val107fs frameshift ALG11 1 83324 1.20013E-5 41662 0 NA
13-52598189-A-G p.Asn108Ser missense ALG11 1299 83304 0.0155935 41652 36 0.0266493
13-52598190-C-T p.Asn108Asn synonymous ALG11 2 83330 2.4001E-5 41665 0 3.18634E-5
13-52598191-G-A p.Gly109Ser missense ALG11 3 83330 3.60014E-5 41665 0 3.18735E-5
13-52598205-A-G p.Leu113Leu synonymous ALG11 1 83344 1.19985E-5 41672 0 8.239E-6
13-52598207-A-C p.Glu114Ala missense ALG11 1 83344 1.19985E-5 41672 0 1.19326E-5
13-52598248-G-A p.Val128Met missense ALG11 1 83344 1.19985E-5 41672 0 NA
13-52598262-T-G p.Phe132Leu missense ALG11 2 83344 2.39969E-5 41672 0 NA
13-52598272-C-T p.Arg136Cys missense ALG11 74 83344 8.87886E-4 41672 4 0.001875
13-52598273-G-A p.Arg136His missense ALG11 3 83340 3.59971E-5 41670 0 1.91449E-4
13-52598295-G-A p.Leu143Leu synonymous ALG11 2 83338 2.39987E-5 41669 0 2.47141E-5
13-52598296-T-C p.Tyr144His missense ALG11 1 83340 1.1999E-5 41670 0 NA
13-52598298-T-C p.Tyr144Tyr synonymous ALG11 1 83342 1.19988E-5 41671 0 7.95463E-6
13-52598311-C-T p.Leu149Leu synonymous ALG11 2 83336 2.39992E-5 41668 0 2.47125E-5
13-52598313-G-A p.Leu149Leu synonymous ALG11 1 83334 1.19999E-5 41667 0 NA
13-52598331-A-T p.Gly155Gly synonymous ALG11 1 83328 1.20008E-5 41664 0 NA
13-52598334-C-G p.Ser156Ser synonymous ALG11 2 83328 2.40015E-5 41664 0 6.37389E-5
13-52598335-AT-A p.Gly160fs frameshift ALG11 2 83326 2.40021E-5 41663 0 1.98834E-5
13-52598360-T-C p.Met165Thr missense ALG11 2 83332 2.40004E-5 41666 0 NA
13-52598388-T-G p.Asp174Glu missense ALG11 3 83304 3.60127E-5 41652 0 2.38618E-5
13-52598401-G-A p.Ala179Thr missense ALG11 34 83280 4.08261E-4 41640 0 1.82965E-4
13-52598408-C-T p.Thr181Met missense ALG11 1 83282 1.20074E-5 41641 0 3.18451E-5
13-52598409-G-A p.Thr181Thr synonymous ALG11 6 83280 7.20461E-5 41640 0 1.59266E-4
13-52598412-T-C p.Leu182Leu synonymous ALG11 1 83280 1.20077E-5 41640 0 NA
13-52598425-T-C p.Tyr187His missense ALG11 2 83244 2.40258E-5 41622 0 3.97757E-6
13-52598470-A-G p.Ile202Val missense ALG11 2 83188 2.40419E-5 41594 0 1.19342E-5
13-52598470-A-C p.Ile202Leu missense ALG11 1 83188 1.2021E-5 41594 0 3.18512E-5
13-52598478-C-T p.Thr204Thr synonymous ALG11 3 83182 3.60655E-5 41591 0 9.55536E-5
13-52598479-G-A p.Asp205Asn missense ALG11 4 83184 4.80862E-5 41592 0 3.29511E-5
13-52598487-C-T p.Leu207Leu synonymous ALG11 1 83194 1.20201E-5 41597 0 3.1841E-5
13-52598504-A-G p.Gln213Arg missense ALG11 2 83192 2.40408E-5 41596 0 NA
13-52598509-A-G p.Ile215Val missense ALG11 1 83194 1.20201E-5 41597 0 NA
13-52598510-T-C p.Ile215Thr missense ALG11 2 83196 2.40396E-5 41598 0 6.25E-4
13-52598514-AT-A p.Phe217fs frameshift ALG11 1 83196 1.20198E-5 41598 0 NA
13-52598515-T-G p.Phe217Val missense ALG11 2 83200 2.40385E-5 41600 0 3.97997E-6
13-52598519-A-C p.Asn218Thr missense ALG11 2 83194 2.40402E-5 41597 0 1.64769E-5
13-52598522-A-C p.Asn219Thr missense ALG11 1 83194 1.20201E-5 41597 0 3.98051E-6
13-52598528-C-G p.Ala221Gly missense ALG11 1 83186 1.20213E-5 41593 0 3.1853E-5
13-52598532-C-G p.Phe222Leu missense ALG11 5 83188 6.01048E-5 41594 0 1.59185E-4
13-52598541-G-A p.Arg225Arg synonymous ALG11 1 83156 1.20256E-5 41578 0 NA
13-52598556-C-T p.Ser230Ser synonymous ALG11 1 83164 1.20244E-5 41582 0 7.96781E-6
13-52598562-A-T p.Val232Val synonymous ALG11 1 83150 1.20265E-5 41575 0 1.59327E-5
13-52598576-A-G p.Tyr237Cys missense ALG11 1 83122 1.20305E-5 41561 0 8.24035E-6
13-52598595-T-G p.Ile243Met missense ALG11 1 83122 1.20305E-5 41561 0 NA
13-52598601-A-T p.Gly245Gly synonymous ALG11 2 83094 2.40691E-5 41547 0 NA
13-52598636-A-G p.Asn257Ser missense ALG11 6 83064 7.22335E-5 41532 0 5.03525E-4
13-52598643-T-C p.Ser259Ser synonymous ALG11 1 83062 1.20392E-5 41531 0 NA
13-52598644-T-C p.Trp260Arg missense ALG11 3 83060 3.61185E-5 41530 0 3.97972E-6
13-52598657-A-G p.His264Arg missense ALG11 2 83112 2.40639E-5 41556 0 0.00100705
13-52598664-C-T p.Leu266Leu synonymous ALG11 1 83136 1.20285E-5 41568 0 1.64769E-5
13-52598666-C-T p.Ser267Leu missense ALG11 1 83146 1.2027E-5 41573 0 1.98951E-5
13-52598668-C-A p.Leu268Ile missense ALG11 21 83150 2.52556E-4 41575 0 6.05018E-4
13-52598670-A-G p.Leu268Leu synonymous ALG11 2 83170 2.40471E-5 41585 0 3.1835E-5
13-52598678-T-C p.Val271Ala missense ALG11 3 83180 3.60664E-5 41590 0 8.23832E-6
13-52598690-C-G p.Thr275Ser missense ALG11 1 83232 1.20146E-5 41616 0 NA
13-52598702-A-G p.Tyr279Cys missense ALG11 1 83250 1.2012E-5 41625 0 NA
13-52598712-T-C p.Cys282Cys synonymous ALG11 1 83266 1.20097E-5 41633 0 3.97921E-6
13-52598718-G-A p.Val284Val synonymous ALG11 1 83268 1.20094E-5 41634 0 2.47223E-5
13-52598740-T-C p.Leu292Leu synonymous ALG11 2 83296 2.40108E-5 41648 0 6.25E-4
13-52598748-GA-G p.Lys296fs frameshift ALG11 1 83304 1.20042E-5 41652 0 1.65044E-5
13-52598759-C-T p.Thr298Ile missense ALG11 1 83306 1.20039E-5 41653 0 NA
13-52598760-C-G p.Thr298Thr synonymous ALG11 3 83308 3.60109E-5 41654 0 1.27372E-4
13-52598783-T-C p.Val306Ala missense ALG11 1 83308 1.20036E-5 41654 0 8.26337E-6
13-52598785-G-T p.Gly307Cys missense ALG11 1 83304 1.20042E-5 41652 0 NA
13-52598798-C-T p.Pro311Leu missense ALG11 4 83290 4.8025E-5 41645 0 1.23955E-4
13-52598799-G-A p.Pro311Pro synonymous ALG11 3609 83264 0.0433441 41632 96 0.0715005
13-52598801-A-G p.Glu312Gly missense ALG11 1 83300 1.20048E-5 41650 0 NA
13-52598805-G-T p.Lys313Asn missense ALG11 1 83304 1.20042E-5 41652 0 NA
13-52598814-A-G p.Pro316Pro synonymous ALG11 2 83306 2.40079E-5 41653 0 NA
13-52598819-A-C p.Gln318Pro missense ALG11 2 83308 2.40073E-5 41654 0 NA
13-52598840-T-C p.Leu325Ser missense ALG11 1 83290 1.20062E-5 41645 0 NA
13-52598853-G-A p.Lys329Lys synonymous ALG11 6 83290 7.20375E-5 41645 0 7.9552E-6
13-52598873-C-T p.Ser336Leu missense ALG11 1 83278 1.2008E-5 41639 0 1.19333E-5
13-52598876-T-C p.Leu337Pro missense ALG11 2 83284 2.40142E-5 41642 0 8.23696E-6
13-52598891-T-A p.Ile342Asn missense ALG11 1 83276 1.20083E-5 41638 0 NA
13-52598895-A-G p.Gly343Gly synonymous ALG11 23 83278 2.76183E-4 41639 2 5.03525E-4
13-52598898-T-G p.Gly344Gly synonymous ALG11 144 83270 0.00172931 41635 0 0.00302606
13-52598900-G-T p.Cys345Phe missense ALG11 1 83274 1.20085E-5 41637 0 7.95646E-6
13-52598903-G-A p.Arg346His missense ALG11 5 83274 6.00428E-5 41637 0 7.414E-5
13-52598903-G-C p.Arg346Pro missense ALG11 1 83274 1.20085E-5 41637 0 NA
13-52598909-A-T p.Lys348Ile missense ALG11 1 83278 1.2008E-5 41639 0 NA
13-52598917-G-T p.Glu351* stop_gained ALG11 1 83260 1.20106E-5 41630 0 NA
13-52598924-G-C p.Arg353Thr missense ALG11 1 83248 1.20123E-5 41624 0 NA
13-52598940-A-G p.Arg358Arg synonymous ALG11 2 83250 2.4024E-5 41625 0 6.3678E-5
13-52598955-T-C p.Asp363Asp synonymous ALG11 2 83256 2.40223E-5 41628 0 3.98476E-6
13-52598973-T-C p.Tyr369Tyr synonymous ALG11 16 83248 1.92197E-4 41624 0 0.00103627
13-52598976-G-A p.Val370Val synonymous ALG11 3 83242 3.60395E-5 41621 0 NA
13-52598979-A-G p.Glu371Glu synonymous ALG11 1 83230 1.20149E-5 41615 0 NA
13-52598979-A-AT p.Lys373fs frameshift ALG11 1 83230 1.20149E-5 41615 0 NA
13-52599012-G-T p.Lys382Asn missense ALG11 2 83180 2.40442E-5 41590 0 8.27952E-6
13-52599021-G-T p.Leu385Phe missense ALG11 2 83126 2.40599E-5 41563 0 NA
13-52599026-A-C p.Glu387Ala missense ALG11 8 83076 9.62974E-5 41538 0 5.41298E-4
13-52599037-G-T p.Gly391Cys missense ALG11 1 82982 1.20508E-5 41491 0 NA
13-52599058-G-A p.Glu398Lys missense ALG11 1 82452 1.21283E-5 41226 0 NA
13-52599080-T-C n.4143+7T>C splice_region ALG11 1 81746 1.2233E-5 40873 0 NA
13-52602447-T-C n.4144-8T>C splice_region ALG11 1 80334 1.2448E-5 40167 0 1.20485E-5
13-52602449-T-C n.4144-6T>C splice_region ALG11 30 80326 3.73478E-4 40163 0 6.36902E-4
13-52602461-T-C p.Val405Ala missense ALG11 15 80392 1.86586E-4 40196 0 9.63747E-5
13-52602465-G-A p.Val19Met missense ALG11 1 80390 1.24394E-5 40195 0 NA
13-52602470-T-G p.Tyr20* stop_gained ALG11 1 80396 1.24384E-5 40198 0 NA
13-52602497-A-T p.His417Leu missense ALG11 1 80392 1.2439E-5 40196 0 NA
13-52602500-A-G p.Asn418Ser missense ALG11 1 80396 1.24384E-5 40198 0 NA
13-52602503-C-CG p.Leu424fs frameshift ALG11 1 80376 1.24415E-5 40188 0 NA
13-52602504-G-A p.Gly32Arg missense ALG11 3 80394 3.73162E-5 40197 0 0.00125
13-52602510-C-G p.Pro34Ala missense ALG11 1 80398 1.24381E-5 40199 0 NA
13-52602514-A-G p.Lys423Glu missense ALG11 5 80398 6.21906E-5 40199 0 4.01548E-6
13-52602516-G-A p.Ala36Thr missense ALG11 3 80400 3.73134E-5 40200 0 3.18634E-5
13-52602523-A-G p.Ile426Val missense ALG11 1 80404 1.24372E-5 40202 0 3.18512E-5
13-52602537-C-T p.His430His synonymous ALG11 4 80390 4.97574E-5 40195 0 1.64742E-5
13-52602538-G-A p.Glu431Lys missense ALG11 5 80394 6.21937E-5 40197 0 3.18593E-5
13-52602540-A-G p.Glu431Glu synonymous ALG11 1 80392 1.2439E-5 40196 0 6.02308E-5
13-52602547-A-G p.Ile434Val missense ALG11 1 80386 1.244E-5 40193 0 NA
13-52602555-C-A p.Gly436Gly synonymous ALG11 1 80370 1.24425E-5 40185 0 4.01548E-6
13-52602559-C-T p.Leu438Leu synonymous ALG11 2 80368 2.48855E-5 40184 0 NA
13-52602576-A-C p.Glu443Asp missense ALG11 3 80340 3.73413E-5 40170 0 1.64742E-5
13-52602578-A-T p.Asp444Val missense ALG11 1 80338 1.24474E-5 40169 0 NA
13-52602583-G-A p.Ala446Thr missense ALG11 1 80338 1.24474E-5 40169 0 3.18512E-5
13-52602604-C-A p.Leu453Ile missense ALG11 1 80308 1.24521E-5 40154 0 8.23873E-6
13-52602611-T-C p.Met455Thr missense ALG11 1 80306 1.24524E-5 40153 0 NA
13-52602623-A-G p.Lys459Arg missense ALG11 1 80294 1.24542E-5 40147 0 8.24049E-6
13-52602631-C-T p.Gln462* stop_gained ALG11 1 80284 1.24558E-5 40142 0 4.01639E-6
13-52602637-A-AT p.Arg464fs frameshift ALG11 1 80282 1.24561E-5 40141 0 NA
13-52602641-A-G p.Lys465Arg missense ALG11 1 80284 1.24558E-5 40142 0 NA
13-52602651-T-C p.Arg468Arg synonymous ALG11 2 80256 2.49203E-5 40128 0 NA
13-52602656-C-T p.Ser470Phe missense ALG11 1 80248 1.24614E-5 40124 0 NA
13-52602664-A-C p.Arg473Arg synonymous ALG11 1 80230 1.24642E-5 40115 0 4.01726E-6
13-52602674-AT-A p.Gln477fs frameshift ALG11 2 80194 2.49395E-5 40097 0 1.20544E-5
13-52602676-C-T p.Gln477* stop_gained ALG11 1 80186 1.2471E-5 40093 0 NA
13-52602677-A-C p.Gln477Pro missense ALG11 2 80184 2.49426E-5 40092 0 NA
13-52602685-G-A p.Glu480Lys missense ALG11 2 80158 2.49507E-5 40079 0 NA
13-52602695-T-A p.Phe483Tyr missense ALG11 1 80092 1.24856E-5 40046 0 NA
13-52602699-A-G p.Leu484Leu synonymous ALG11 25 80068 3.12235E-4 40034 0 1.92051E-4
13-52602701-C-T p.Ser485Leu missense ALG11 1 80036 1.24944E-5 40018 0 2.5074E-5
13-52602709-G-T p.Glu488* stop_gained ALG11 1 79892 1.25169E-5 39946 0 NA
13-52602719-TTAAG-T p.Lys492fs frameshift ALG11 2 79738 2.50821E-5 39869 0 9.55049E-5
13-52602883-T-C n.4572T>C splice_region ALG11 10 82892 1.20639E-4 41446 0 6.27287E-5
13-52603800-A-T c.*1074A>T splice_region ALG11 3 83288 3.60196E-5 41644 0 3.97921E-6
13-52603800-A-G c.*1074A>G splice_region ALG11 1 83288 1.20065E-5 41644 0 1.64832E-5