Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-34175289-G-A c.-246G>A 5_prime_UTR_premature_start_codon_gain ALG10 2 34710 5.76203E-5 17355 0 NA
12-34175309-T-C c.-226T>C 5_prime_UTR_premature_start_codon_gain ALG10 1 47906 2.08742E-5 23953 0 NA
12-34175322-C-G c.-213C>G 5_prime_UTR_premature_start_codon_gain ALG10 1 54932 1.82043E-5 27466 0 3.21399E-5
12-34175325-C-G c.-210C>G 5_prime_UTR_premature_start_codon_gain ALG10 1 56182 1.77993E-5 28091 0 NA
12-34175326-C-T c.-209C>T 5_prime_UTR_premature_start_codon_gain ALG10 2 56634 3.53145E-5 28317 0 3.20904E-5
12-34175382-C-T c.-153C>T 5_prime_UTR_premature_start_codon_gain ALG10 1 74670 1.33923E-5 37335 0 NA
12-34175401-T-C c.-134T>C 5_prime_UTR_premature_start_codon_gain ALG10 3 78084 3.84202E-5 39042 0 NA
12-34175407-T-G c.-128T>G 5_prime_UTR_premature_start_codon_gain ALG10 1 78688 1.27084E-5 39344 0 NA
12-34175410-G-T c.-125G>T 5_prime_UTR_premature_start_codon_gain ALG10 1 78990 1.26598E-5 39495 0 NA
12-34175413-A-C c.-122A>C 5_prime_UTR_premature_start_codon_gain ALG10 2 79236 2.52411E-5 39618 0 NA
12-34175415-G-A c.-120G>A 5_prime_UTR_premature_start_codon_gain ALG10 99 79464 0.00124585 39732 0 2.55624E-4
12-34175521-C-A c.-14C>A 5_prime_UTR_premature_start_codon_gain ALG10 1 82612 1.21048E-5 41306 0 8.24049E-6
12-34175539-C-T p.Ala2Val missense ALG10 1 82870 1.20671E-5 41435 0 3.29506E-5
12-34175544-C-T p.Leu4Leu synonymous ALG10 2 82962 2.41074E-5 41481 0 NA
12-34175548-A-G p.Glu5Gly missense ALG10 1 83044 1.20418E-5 41522 0 NA
12-34175550-G-A p.Gly6Ser missense ALG10 2 83076 2.40743E-5 41538 0 3.97678E-6
12-34175555-C-T p.Tyr7Tyr synonymous ALG10 1 83118 1.20311E-5 41559 0 1.19302E-5
12-34175557-A-G p.Tyr8Cys missense ALG10 1 83126 1.20299E-5 41563 0 NA
12-34175563-C-T p.Ser10Leu missense ALG10 7 83146 8.41893E-5 41573 0 1.31787E-4
12-34175568-G-A p.Ala12Thr missense ALG10 1 83190 1.20207E-5 41595 0 3.18654E-5
12-34175569-C-A p.Ala12Asp missense ALG10 1 83216 1.20169E-5 41608 0 3.97697E-6
12-34175570-CTTGAGCTGTACCTT-C p.Leu13fs frameshift ALG10 1 83222 1.20161E-5 41611 0 NA
12-34175582-C-G p.Thr16Thr synonymous ALG10 1 83276 1.20083E-5 41638 0 NA
12-34175585-T-G p.Phe17Leu missense ALG10 8 83286 9.60546E-5 41643 0 2.23129E-4
12-34175586-T-C p.Leu18Leu synonymous ALG10 1 83284 1.20071E-5 41642 0 NA
12-34175589-G-A p.Val19Ile missense ALG10 9 83288 1.08059E-4 41644 0 5.03525E-4
12-34175591-A-G p.Val19Val synonymous ALG10 1 83296 1.20054E-5 41648 0 8.23669E-6
12-34175593-C-T p.Ser20Phe missense ALG10 1 83304 1.20042E-5 41652 0 NA
12-34175595-T-G p.Cys21Gly missense ALG10 1 83302 1.20045E-5 41651 0 7.95317E-6
12-34175596-GCCT-G p.Leu23del conservative_inframe_deletion ALG10 2 83310 2.40067E-5 41655 0 3.19E-5
12-34175612-C-T p.Ala26Ala synonymous ALG10 9 83314 1.08025E-4 41657 0 5.76568E-5
12-34175616-A-G p.Ser28Gly missense ALG10 5 83322 6.00082E-5 41661 0 6.3743E-5
12-34175623-C-T p.Ala30Val missense ALG10 1 83300 1.20048E-5 41650 0 NA
12-34175628-C-T p.Arg32* stop_gained ALG10 4 83304 4.80169E-5 41652 0 1.64734E-5
12-34175635-C-T p.Pro34Leu missense ALG10 1 83316 1.20025E-5 41658 0 3.97753E-6
12-34175640-A-G p.Met36Val missense ALG10 2 83304 2.40085E-5 41652 0 5.76578E-5
12-34175649-A-G p.Ile39Val missense ALG10 1 83268 1.20094E-5 41634 0 3.29478E-5
12-34175666-G-A p.Gln44Gln synonymous ALG10 1 83224 1.20158E-5 41612 0 NA
12-34175685-G-A p.Gly51Ser missense ALG10 1 83152 1.20262E-5 41576 0 NA
12-34175701-C-T p.Ser56Phe missense ALG10 2 83040 2.40848E-5 41520 0 3.99195E-6
12-34175702-C-T p.Ser56Ser synonymous ALG10 3 83046 3.61246E-5 41523 0 3.19379E-5
12-34175711-G-T c.171+6G>T splice_region ALG10 1 82928 1.20587E-5 41464 0 3.18817E-5
12-34176897-T-C p.Trp58Arg missense+splice_region ALG10 1 83354 1.1997E-5 41677 0 3.97674E-6
12-34176917-A-G p.Ile56Val missense ALG10 2 83370 2.39894E-5 41685 0 NA
12-34176921-C-A p.Pro66Thr missense ALG10 1 83376 1.19939E-5 41688 0 NA
12-34176932-C-G p.Tyr69* stop_gained ALG10 4 83392 4.79662E-5 41696 0 8.23642E-6
12-34176933-C-A p.Leu70Met missense ALG10 1 83392 1.19916E-5 41696 0 NA
12-34176936-G-A p.Val71Met missense ALG10 1 83390 1.19918E-5 41695 0 NA
12-34176942-A-G p.Ile73Val missense ALG10 2 83394 2.39825E-5 41697 0 5.03525E-4
12-34176943-T-C p.Ile73Thr missense ALG10 1 83396 1.1991E-5 41698 0 1.64728E-5
12-34176944-T-C p.Trp65Arg missense ALG10 1 83390 1.19918E-5 41695 0 NA
12-34176952-T-G p.Ile76Ser missense ALG10 57 83390 6.83535E-4 41695 0 0.00194218
12-34176953-C-CA p.Pro78fs frameshift ALG10 1 83392 1.19916E-5 41696 0 NA
12-34176955-A-G p.Lys77Arg missense ALG10 5 83390 5.99592E-5 41695 0 6.25E-4
12-34176957-C-T p.Pro78Ser missense ALG10 1 83390 1.19918E-5 41695 0 NA
12-34176963-A-G p.Ile80Val missense ALG10 1 83388 1.19921E-5 41694 0 3.97646E-6
12-34176968-G-A p.Trp81* stop_gained ALG10 1 83380 1.19933E-5 41690 0 NA
12-34176969-A-G p.Ile82Val missense ALG10 17 83380 2.03886E-4 41690 0 3.82336E-4
12-34176971-C-T p.Leu74Phe missense ALG10 2 83378 2.39871E-5 41689 0 3.57884E-5
12-34176971-C-G p.Ile82Met missense ALG10 1 83378 1.19936E-5 41689 0 6.36862E-5
12-34176981-T-C p.Ser86Pro missense ALG10 1 83376 1.19939E-5 41688 0 8.23642E-6
12-34177002-A-C p.Ile93Leu missense ALG10 2 83368 2.399E-5 41684 0 5.03525E-4
12-34177003-T-C p.Ile93Thr missense ALG10 1 83370 1.19947E-5 41685 0 3.97693E-6
12-34177003-T-A p.Ile93Asn missense ALG10 1 83370 1.19947E-5 41685 0 8.23642E-6
12-34177008-A-T p.Met95Leu missense ALG10 1 83364 1.19956E-5 41682 0 NA
12-34177038-G-A p.Val105Ile missense ALG10 9 83334 1.07999E-4 41667 0 4.45917E-4
12-34177045-A-T p.Asn107Ile missense ALG10 3 83314 3.60084E-5 41657 0 3.18451E-5
12-34177050-T-C p.Tyr109His missense ALG10 1 83294 1.20057E-5 41647 0 NA
12-34177057-T-A p.Leu111Gln missense ALG10 7 83284 8.40498E-5 41642 0 1.27356E-4
12-34177060-A-C p.Tyr112Ser missense ALG10 1 83278 1.2008E-5 41639 0 NA
12-34177063-T-TGTTCCTTTATAACA p.Leu114fs frameshift ALG10 1 83260 1.20106E-5 41630 0 NA
12-34177077-G-C p.Val118Leu missense ALG10 1 83212 1.20175E-5 41606 0 8.23764E-6
12-34177079-A-G p.Val118Val synonymous ALG10 1403 83132 0.0168768 41566 48 0.0367174
12-34177085-C-T p.Pro120Pro synonymous ALG10 2 83164 2.40489E-5 41582 0 8.23832E-6
12-34177091-C-G p.Asn122Lys missense ALG10 2 83140 2.40558E-5 41570 0 NA
12-34177092-A-G p.Lys123Glu missense+splice_region ALG10 1 83138 1.20282E-5 41569 0 NA
12-34177095-G-A c.369+1G>A splice_donor ALG10 1 83116 1.20314E-5 41558 0 NA
12-34177097-A-G c.369+3A>G splice_region ALG10 2 83106 2.40657E-5 41553 0 3.1841E-5
12-34178790-C-T c.370-8C>T splice_region ALG10 3 83104 3.60993E-5 41552 0 7.17492E-5
12-34178791-C-T c.370-7C>T splice_region ALG10 6 83108 7.21952E-5 41554 0 9.56206E-5
12-34178794-C-CA c.370-4_370-3insA splice_region ALG10 1 83106 1.20328E-5 41553 0 7.57093E-5
12-34178796-A-C c.370-2A>C splice_acceptor ALG10 3 83106 3.60985E-5 41553 0 NA
12-34178798-G-C p.Ala124Pro missense+splice_region ALG10 1 83104 1.20331E-5 41552 0 6.3743E-5
12-34178800-T-C p.Ala124Ala splice_region+synonymous ALG10 2 83108 2.40651E-5 41554 0 NA
12-34178801-G-A p.Ala125Thr missense ALG10 1 83112 1.2032E-5 41556 0 3.3077E-5
12-34178803-C-T p.Ala125Ala synonymous ALG10 2 83108 2.40651E-5 41554 0 8.26897E-6
12-34178830-A-C p.Thr134Thr synonymous ALG10 484 83062 0.00582697 41531 3 0.0109708
12-34178839-A-G p.Leu137Leu synonymous ALG10 3 83094 3.61037E-5 41547 0 3.18634E-5
12-34178841-C-T p.Ala138Val missense ALG10 1 83086 1.20357E-5 41543 0 NA
12-34178859-A-G p.Tyr144Cys missense ALG10 1 83100 1.20337E-5 41550 0 5.04032E-4
12-34178869-C-G p.Asn147Lys missense ALG10 1 83078 1.20369E-5 41539 0 3.98429E-6
12-34178882-A-G p.Thr152Ala missense ALG10 2 83022 2.409E-5 41511 0 NA
12-34178906-A-C p.Thr160Pro missense ALG10 1 82932 1.20581E-5 41466 0 NA
12-34178906-ACT-A p.Leu161fs frameshift ALG10 1 82932 1.20581E-5 41466 0 NA
12-34178906-A-G p.Thr160Ala missense ALG10 3 82930 3.61751E-5 41465 0 NA
12-34178916-C-T p.Ala163Val missense ALG10 2 82876 2.41324E-5 41438 0 9.58834E-5
12-34178917-G-A p.Ala163Ala synonymous ALG10 1 82874 1.20665E-5 41437 0 4.15628E-4
12-34178934-A-G p.Tyr169Cys missense ALG10 2 82742 2.41715E-5 41371 0 3.18674E-5
12-34178934-A-T p.Tyr169Phe missense ALG10 2 82742 2.41715E-5 41371 0 NA
12-34178955-C-G p.Ala176Gly missense ALG10 1 82700 1.20919E-5 41350 0 8.25082E-6
12-34178964-G-A p.Gly179Glu missense ALG10 2 82680 2.41896E-5 41340 0 0.00125
12-34178968-T-C p.Phe180Phe synonymous ALG10 1 82684 1.20942E-5 41342 0 NA
12-34178971-T-G p.Cys181Trp missense ALG10 2 82684 2.41885E-5 41342 0 1.19405E-5
12-34178973-G-A p.Gly182Asp missense ALG10 2 82706 2.4182E-5 41353 0 2.47578E-5
12-34178978-A-G p.Met184Val missense ALG10 3 82726 3.62643E-5 41363 0 3.30115E-5
12-34178984-C-T p.Arg186Trp missense ALG10 3 82734 3.62608E-5 41367 0 7.95925E-6
12-34178985-G-A p.Arg186Gln missense ALG10 10 82728 1.20878E-4 41364 0 6.25E-4
12-34178999-A-G p.Ile191Val missense ALG10 1 82888 1.20645E-5 41444 0 NA
12-34179006-C-T p.Ala193Val missense ALG10 1 82928 1.20587E-5 41464 0 NA
12-34179008-G-C p.Val194Leu missense ALG10 2 82934 2.41156E-5 41467 0 2.78465E-5
12-34179034-A-C p.Ala202Ala synonymous ALG10 2 83132 2.40581E-5 41566 0 3.30235E-5
12-34179037-A-C p.Gln203His missense ALG10 1 83144 1.20273E-5 41572 0 3.18532E-5
12-34179038-A-C p.Lys204Gln missense ALG10 1 83144 1.20273E-5 41572 0 8.25627E-6
12-34179045-C-T p.Thr206Met missense ALG10 1 83174 1.2023E-5 41587 0 9.56084E-5
12-34179045-CG-C p.Glu207fs frameshift ALG10 2 83174 2.4046E-5 41587 0 NA
12-34179046-G-A p.Thr206Thr synonymous ALG10 57 83144 6.85558E-4 41572 0 5.61341E-4
12-34179068-C-T p.Gln214* stop_gained ALG10 1 83148 1.20267E-5 41574 0 3.18654E-5
12-34179071-A-T p.Lys215* stop_gained ALG10 1 83122 1.20305E-5 41561 0 3.18471E-5
12-34179093-C-G p.Pro222Arg missense ALG10 1 83020 1.20453E-5 41510 0 8.27472E-6
12-34179095-A-G p.Ile223Val missense ALG10 2 83020 2.40906E-5 41510 0 2.79767E-5
12-34179102-G-A p.Gly225Glu missense ALG10 1 82998 1.20485E-5 41499 0 2.79841E-5
12-34179105-C-T p.Pro226Leu missense ALG10 1 82988 1.20499E-5 41494 0 NA
12-34179110-G-C p.Ala228Pro missense ALG10 1 82978 1.20514E-5 41489 0 NA
12-34179111-C-G p.Ala228Gly missense ALG10 2 82986 2.41005E-5 41493 0 NA
12-34179113-G-C p.Glu229Gln missense ALG10 1 82990 1.20496E-5 41495 0 8.27636E-6
12-34179133-G-A p.Gln235Gln synonymous ALG10 1 83108 1.20325E-5 41554 0 NA
12-34179136-T-C p.Phe236Phe synonymous ALG10 1 83128 1.20296E-5 41564 0 NA
12-34179142-G-A p.Leu238Leu synonymous ALG10 4 83168 4.80954E-5 41584 0 NA
12-34179152-A-G p.Met242Val missense ALG10 2 83230 2.40298E-5 41615 0 NA
12-34179157-C-T p.Ser243Ser synonymous ALG10 1347 83252 0.0161798 41626 49 0.0292044
12-34179167-T-A p.Leu247Met missense ALG10 1 83294 1.20057E-5 41647 0 NA
12-34179189-C-T p.Thr254Ile missense ALG10 1 83330 1.20005E-5 41665 0 NA
12-34179208-G-A p.Leu260Leu synonymous ALG10 1 83314 1.20028E-5 41657 0 NA
12-34179215-C-G p.Leu263Val missense ALG10 1 83310 1.20034E-5 41655 0 NA
12-34179222-G-A p.Cys265Tyr missense ALG10 2 83298 2.40102E-5 41649 0 3.97776E-6
12-34179231-T-C p.Val268Ala missense ALG10 1 83298 1.20051E-5 41649 0 NA
12-34179233-G-A p.Val269Ile missense ALG10 152 83288 0.00182499 41644 0 0.00391994
12-34179259-C-T p.Gly277Gly synonymous ALG10 2 83202 2.40379E-5 41601 0 8.2409E-6
12-34179260-G-T p.Asp278Tyr missense ALG10 2 83198 2.4039E-5 41599 0 8.24144E-6
12-34179263-C-T p.Arg279Trp missense ALG10 3 83182 3.60655E-5 41591 0 5.03525E-4
12-34179264-G-A p.Arg279Gln missense ALG10 1 83172 1.20233E-5 41586 0 5.03525E-4
12-34179268-T-C p.Ser280Ser synonymous ALG10 2 83166 2.40483E-5 41583 0 NA
12-34179279-C-CAAAAGCATA p.Ala284_Cys285insLysAlaTyr disruptive_inframe_insertion ALG10 1 83146 1.2027E-5 41573 0 NA
12-34179279-C-G p.Ala284Gly missense ALG10 1 83148 1.20267E-5 41574 0 4.12249E-5
12-34179293-C-T p.Pro289Ser missense ALG10 5 83128 6.01482E-5 41564 0 9.16773E-5
12-34179294-C-G p.Pro289Arg missense ALG10 54 83122 6.49647E-4 41561 0 7.75514E-4
12-34179294-C-T p.Pro289Leu missense ALG10 1 83126 1.20299E-5 41563 0 NA
12-34179301-A-C p.Leu291Leu synonymous ALG10 1 83134 1.20288E-5 41567 0 NA
12-34179315-C-T p.Ser296Leu missense ALG10 3 83178 3.60672E-5 41589 0 5.03525E-4
12-34179316-A-T p.Ser296Ser synonymous ALG10 4 83176 4.80908E-5 41588 0 6.60262E-4
12-34179323-C-T p.Leu299Phe missense ALG10 1 83192 1.20204E-5 41596 0 3.18903E-5
12-34179325-C-CT p.Ser302fs frameshift ALG10 2 83198 2.4039E-5 41599 0 1.59453E-5
12-34179341-C-A p.His305Asn missense ALG10 1 83226 1.20155E-5 41613 0 NA
12-34179356-A-G p.Ser310Gly missense ALG10 1 83248 1.20123E-5 41624 0 4.13066E-5
12-34179358-C-G p.Ser310Arg missense ALG10 3 83252 3.60352E-5 41626 0 6.3743E-5
12-34179368-ACTTTT-A p.Val319fs frameshift ALG10 10 83262 1.20103E-4 41631 0 6.60982E-5
12-34179385-T-C p.Val319Val synonymous ALG10 1 83262 1.20103E-5 41631 0 NA
12-34179392-C-T p.Arg322Cys missense ALG10 2 83262 2.40206E-5 41631 0 3.18715E-5
12-34179398-A-G p.Ile324Val missense ALG10 2 83250 2.4024E-5 41625 0 NA
12-34179413-G-A p.Val329Ile missense ALG10 2 83232 2.40292E-5 41616 0 8.26556E-6
12-34179452-T-C p.Tyr342His missense ALG10 1 83142 1.20276E-5 41571 0 NA
12-34179470-C-A p.Leu348Ile missense ALG10 17 83106 2.04558E-4 41553 0 1.83881E-4
12-34179495-T-C p.Phe356Ser missense ALG10 1 83066 1.20386E-5 41533 0 8.29779E-6
12-34179529-A-T p.Glu367Asp missense ALG10 11 83134 1.32317E-4 41567 0 3.18492E-4
12-34179535-A-G p.Val369Val synonymous ALG10 6 83138 7.21692E-5 41569 0 6.37146E-5
12-34179548-G-T p.Val374Phe missense ALG10 3 83142 3.60828E-5 41571 0 3.59856E-5
12-34179582-C-G p.Ala385Gly missense ALG10 1 83126 1.20299E-5 41563 0 NA
12-34179605-A-G p.Ile393Val missense ALG10 2 83122 2.4061E-5 41561 0 6.62E-5
12-34179606-T-C p.Ile393Thr missense ALG10 1 83118 1.20311E-5 41559 0 3.99406E-6
12-34179632-T-C p.Cys402Arg missense ALG10 1 83118 1.20311E-5 41559 0 NA
12-34179634-C-T p.Cys402Cys synonymous ALG10 2 83118 2.40622E-5 41559 0 1.65218E-5
12-34179648-T-C p.Ile407Thr missense ALG10 9 83122 1.08275E-4 41561 0 2.86661E-4
12-34179674-C-T p.Arg416Cys missense ALG10 2 83102 2.40668E-5 41551 0 1.64967E-5
12-34179675-G-A p.Arg416His missense ALG10 1 83100 1.20337E-5 41550 0 3.18654E-5
12-34179683-A-G p.Ile419Val missense ALG10 1 83082 1.20363E-5 41541 0 8.24824E-6
12-34179713-A-G p.Ile429Val missense ALG10 1 82582 1.21092E-5 41291 0 NA
12-34179716-C-A p.Pro430Thr missense ALG10 1 82560 1.21124E-5 41280 0 2.78776E-5
12-34179723-C-G p.Pro432Arg missense ALG10 1 82432 1.21312E-5 41216 0 NA
12-34179735-G-GACTC p.Ile438fs frameshift ALG10 1 82636 1.21013E-5 41318 0 NA
12-34179753-G-A p.Ser442Asn missense ALG10 1 82832 1.20726E-5 41416 0 NA
12-34179764-G-A p.Val446Ile missense ALG10 2 82814 2.41505E-5 41407 0 2.7924E-5
12-34179786-T-A p.Phe453Tyr missense ALG10 1 82716 1.20896E-5 41358 0 8.26241E-6
12-34179794-C-T p.Leu456Leu synonymous ALG10 1 82704 1.20913E-5 41352 0 1.19814E-5
12-34179799-C-T p.Asn457Asn synonymous ALG10 6 82696 7.25549E-5 41348 0 2.48077E-5
12-34179804-C-A p.Thr459Asn missense ALG10 1 82702 1.20916E-5 41351 0 7.9885E-6
12-34179820-TAGTC-T p.Ser465fs frameshift ALG10 13 82718 1.5716E-4 41359 0 1.59286E-4
12-34179831-T-C p.Ile468Thr missense ALG10 1 82726 1.20881E-5 41363 0 NA
12-34179836-A-G p.Arg470Gly missense ALG10 2 82700 2.41838E-5 41350 0 8.30372E-6
12-34182559-G-A c.370-1G>A splice_acceptor ALG10 6 9544 6.28667E-4 4772 0 8.00564E-4
12-34182563-T-C p.Tyr125His missense ALG10 25 9532 0.00262274 4766 1 0.00809445
12-34182570-G-A p.Ter127Ter stop_retained ALG10 65 9652 0.00673436 4826 3 0.0153195