Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-77811990-T-C c.*20A>G splice_region ALG8 49094 60598 0.810159 30299 19821 0.860745
11-77811994-T-G c.*268A>C splice_region ALG8 3 82482 3.63716E-5 41241 0 8.23954E-6
11-77812035-G-A p.Ala519Val missense ALG8 2 82944 2.41127E-5 41472 0 7.96001E-6
11-77812037-A-G p.Ser518Ser synonymous ALG8 1 82954 1.20549E-5 41477 0 NA
11-77812050-A-C p.Val514Gly missense ALG8 1 83020 1.20453E-5 41510 0 1.19375E-5
11-77812075-C-T p.Ala506Thr missense ALG8 12 83082 1.44436E-4 41541 0 0.004375
11-77812084-T-C p.Ile503Val missense ALG8 65 83082 7.8236E-4 41541 0 6.25391E-4
11-77812085-G-A p.Gly502Gly synonymous ALG8 54 83078 6.49992E-4 41539 0 4.01817E-4
11-77812102-C-T p.Val497Met missense ALG8 2 83104 2.40662E-5 41552 0 NA
11-77812106-G-C p.Thr495Thr synonymous ALG8 1 83108 1.20325E-5 41554 0 6.36943E-5
11-77812106-G-GGT p.Ser496fs frameshift ALG8 1 83108 1.20325E-5 41554 0 3.97842E-6
11-77812112-T-A p.Leu493Phe missense ALG8 2 83100 2.40674E-5 41550 0 8.24144E-6
11-77812127-G-A p.Pro488Pro synonymous ALG8 1 83116 1.20314E-5 41558 0 NA
11-77812131-T-C p.Tyr487Cys missense ALG8 7 83106 8.42298E-5 41553 0 0.00100705
11-77812147-A-G p.Ser482Pro missense ALG8 3 83096 3.61028E-5 41548 0 3.97829E-6
11-77812155-G-A p.Pro479Leu missense ALG8 1 83098 1.2034E-5 41549 0 8.24878E-6
11-77812158-A-G p.Phe478Ser missense ALG8 1 83096 1.20343E-5 41548 0 3.97864E-6
11-77812190-C-A p.Leu467Leu synonymous ALG8 2 83092 2.40697E-5 41546 0 6.25E-4
11-77812198-G-C p.Leu465Val missense ALG8 1 83086 1.20357E-5 41543 0 NA
11-77812202-G-A p.Tyr463Tyr synonymous ALG8 1 83064 1.20389E-5 41532 0 8.27719E-6
11-77812210-T-C p.Thr461Ala missense ALG8 1 83052 1.20406E-5 41526 0 3.98254E-6
11-77812235-T-C p.Lys83Glu missense ALG8 6 82750 7.25076E-5 41375 0 3.8219E-4
11-77812237-C-T p.Glu452Lys missense ALG8 2 82702 2.41832E-5 41351 0 3.19428E-5
11-77812246-A-ATAAAGTCTTCAGTGACGAAATACTATATGT c.1350-6_1350-5insACATATAGTATTTCGTCACTGAAGACTTTA splice_region ALG8 1 82368 1.21406E-5 41184 0 NA
11-77813941-T-C p.Ter468Ter stop_retained ALG8 86 752 0.114362 376 3 0.3
11-77813997-CA-C c.1350-4delT splice_region ALG8 145 1126 0.128774 563 16 0.617262
11-77813997-CAA-C c.1350-5_1350-4delTT splice_region ALG8 35 1414 0.0247525 707 2 0.0793651
11-77813997-C-CA c.1350-4_1350-3insT splice_region ALG8 4 1412 0.00283286 706 0 0.0555556
11-77813997-CAAA-C c.1350-6_1350-4delTTT splice_region ALG8 1 1432 6.98324E-4 716 0 0.0238095
11-77813997-CAAAA-C c.1350-7_1350-4delTTTT splice_region ALG8 1 1432 6.98324E-4 716 0 0.00793651
11-77815021-A-G c.1349+5T>C splice_region ALG8 2 80466 2.48552E-5 40233 0 3.1953E-5
11-77815026-C-A p.Arg450Ile missense+splice_region ALG8 2 80690 2.47862E-5 40345 0 NA
11-77815031-T-A p.Leu448Phe missense ALG8 1 80958 1.23521E-5 40479 0 NA
11-77815032-A-C p.Leu448* stop_gained ALG8 1 81004 1.23451E-5 40502 0 NA
11-77815046-C-T p.Ser443Ser synonymous ALG8 3 81202 3.69449E-5 40601 0 5.03525E-4
11-77815047-G-A p.Ser443Leu missense ALG8 9 81254 1.10764E-4 40627 0 9.60449E-5
11-77815056-T-C p.Tyr440Cys missense ALG8 1 81434 1.22799E-5 40717 0 NA
11-77815059-A-G p.Ile439Thr missense ALG8 2506 81270 0.0308355 40635 50 0.0387714
11-77815090-T-C p.Ile429Val missense ALG8 38 81492 4.66303E-4 40746 0 2.40843E-4
11-77815105-AAAG-A c.1277-10_1277-8delCTT splice_region ALG8 19 81246 2.33858E-4 40623 0 1.59246E-4
11-77815404-G-T p.Pro425Gln missense+splice_region ALG8 2 82606 2.42113E-5 41303 0 NA
11-77815407-G-A p.Ala424Val missense ALG8 2 82658 2.41961E-5 41329 0 0.0025227
11-77815412-G-A p.Phe422Phe synonymous ALG8 1 82714 1.20899E-5 41357 0 NA
11-77815422-G-C p.Pro419Arg missense ALG8 1 82788 1.2079E-5 41394 0 NA
11-77815429-G-C p.Leu417Val missense ALG8 1 82812 1.20755E-5 41406 0 NA
11-77815433-A-ATT p.Tyr415fs frameshift ALG8 7 82844 8.44962E-5 41422 0 4.32664E-6
11-77815445-TGTG-T p.Thr411del disruptive_inframe_deletion ALG8 1 82830 1.20729E-5 41415 0 NA
11-77815466-C-T p.Ser404Ser synonymous ALG8 2 82710 2.41809E-5 41355 0 3.18837E-5
11-77815467-G-A p.Ser404Leu missense ALG8 80 82694 9.67422E-4 41347 0 0.0013414
11-77815467-G-T p.Ser404* stop_gained ALG8 1 82694 1.20928E-5 41347 0 NA
11-77815472-G-A p.Asp402Asp synonymous ALG8 4 82666 4.83875E-5 41333 0 6.25E-4
11-77815480-C-T p.Ala400Thr missense ALG8 1 82622 1.21033E-5 41311 0 NA
11-77815501-T-TCATTGGGAGAATTGCTAGAAGTATGGCTTTTTCATG c.1179-3_1179-2insCATGAAAAAGCCATACTTCTAGCAATTCTCCCAATG splice_region ALG8 2 82104 2.43593E-5 41052 1 NA
11-77815504-A-T c.1179-5T>A splice_region ALG8 1 81992 1.21963E-5 40996 0 NA
11-77817846-T-C c.1178+7A>G splice_region ALG8 9 83126 1.08269E-4 41563 0 7.5608E-5
11-77817850-T-C c.1178+3A>G splice_region ALG8 3 83154 3.60776E-5 41577 0 1.64802E-5
11-77817853-C-T p.Ser393Asn missense+splice_region ALG8 3 83170 3.60707E-5 41585 0 1.98972E-5
11-77817863-G-T p.Leu390Ile missense ALG8 5 83200 6.00962E-5 41600 0 1.91071E-4
11-77817866-T-C p.Ile389Val missense ALG8 4 83192 4.80815E-5 41596 0 3.18451E-5
11-77817869-C-G p.Ala388Pro missense ALG8 5 83212 6.00875E-5 41606 0 4.14013E-4
11-77817878-T-C p.Ile385Val missense ALG8 2 83232 2.40292E-5 41616 0 NA
11-77817914-A-G p.Ser373Pro missense ALG8 2 83292 2.40119E-5 41646 0 0.00151057
11-77817914-A-C p.Ser373Ala missense ALG8 1 83292 1.2006E-5 41646 0 3.97731E-6
11-77817914-A-ACCT p.Ser372_Ser373insArg conservative_inframe_insertion ALG8 3 83292 3.60179E-5 41646 0 3.97731E-6
11-77817918-C-T p.Leu371Leu synonymous ALG8 1 83290 1.20062E-5 41645 0 NA
11-77817921-G-T p.Ala370Ala synonymous ALG8 1 83294 1.20057E-5 41647 0 NA
11-77817939-T-A p.Arg364Arg synonymous ALG8 1 83288 1.20065E-5 41644 0 NA
11-77817940-C-T p.Arg364Gln missense ALG8 2 83280 2.40154E-5 41640 0 3.30175E-5
11-77817941-G-A p.Arg364* stop_gained ALG8 25 83290 3.00156E-4 41645 0 1.27429E-4
11-77817946-A-C p.Phe362Cys missense ALG8 1 83298 1.20051E-5 41649 0 NA
11-77817954-G-A p.Pro359Pro synonymous ALG8 2 83270 2.40183E-5 41635 0 3.30748E-5
11-77817963-G-A c.86-5C>T splice_region ALG8 3 83242 3.60395E-5 41621 0 6.37349E-5
11-77817973-CA-C p.Trp353fs frameshift ALG8 1 83204 1.20187E-5 41602 0 NA
11-77817981-G-A p.Phe350Phe synonymous ALG8 1 83174 1.2023E-5 41587 0 NA
11-77817993-C-CAA c.1039-2_1039-1insTT splice_acceptor ALG8 1 83068 1.20383E-5 41534 0 NA
11-77817997-A-G c.1039-5T>C splice_region ALG8 724 83010 0.00872184 41505 15 0.0178856
11-77818765-G-C p.Gln180Glu missense+splice_region ALG8 48 1138 0.0421793 569 2 0.276111
11-77818777-A-G p.Tyr176His missense ALG8 14 1006 0.0139165 503 1 0.0707031
11-77818803-G-A p.Ala167Val missense ALG8 38 752 0.0505319 376 2 0.264368
11-77818809-A-T p.Val165Asp missense+splice_region ALG8 5 780 0.00641026 390 0 0.0103897
11-77820481-T-A c.1038+7A>T splice_region ALG8 2 83308 2.40073E-5 41654 0 1.98875E-5
11-77820504-G-T p.Thr341Lys missense ALG8 1 83372 1.19944E-5 41686 0 NA
11-77820506-G-T p.Cys340* stop_gained ALG8 1 83378 1.19936E-5 41689 0 NA
11-77820526-G-C p.Pro334Ala missense ALG8 1 83396 1.1991E-5 41698 0 1.98834E-5
11-77820526-G-A p.Pro334Ser missense ALG8 3 83396 3.59729E-5 41698 0 NA
11-77820532-C-A p.Val332Leu missense ALG8 1 83402 1.19901E-5 41701 0 NA
11-77820546-G-C p.Thr327Arg missense ALG8 32 83404 3.83675E-4 41702 0 0.00151057
11-77820557-CT-C p.Gln323fs frameshift ALG8 1 83404 1.19898E-5 41702 0 NA
11-77820558-T-C p.Gln323Arg missense ALG8 2 83402 2.39802E-5 41701 0 NA
11-77820566-C-G p.Leu320Phe missense ALG8 1 83410 1.1989E-5 41705 0 8.23683E-6
11-77820573-C-T p.Ser318Asn missense ALG8 3 83400 3.59712E-5 41700 0 1.19298E-5
11-77820592-G-A p.Pro312Ser missense ALG8 2 83388 2.39843E-5 41694 1 3.97659E-6
11-77820604-G-C p.Pro308Ala missense ALG8 1 83372 1.19944E-5 41686 0 NA
11-77820628-C-CGA c.899-2_899-1insTC splice_acceptor ALG8 5 83294 6.00283E-5 41647 2 NA
11-77823656-C-A p.Ter157Leuext*? stop_lost ALG8 3 83268 3.60282E-5 41634 0 3.18451E-5
11-77823659-T-C p.Tyr156Cys missense ALG8 5 83276 6.00413E-5 41638 0 NA
11-77823660-A-G p.Tyr156His missense ALG8 643 83270 0.00772187 41635 15 0.0159574
11-77823660-A-T p.Tyr156Asn missense ALG8 1 83282 1.20074E-5 41641 0 NA
11-77823669-C-T p.Asp153Asn missense ALG8 2 83294 2.40113E-5 41647 0 1.64943E-5
11-77823671-G-T p.Ser152* stop_gained ALG8 1 83294 1.20057E-5 41647 0 NA
11-77823686-G-A p.Ala147Val missense ALG8 12 83286 1.44082E-4 41643 0 2.86569E-4
11-77823688-T-C c.898+8A>G splice_region ALG8 12 83286 1.44082E-4 41643 0 5.56837E-5
11-77823689-A-T p.Val146Glu missense ALG8 1 83288 1.20065E-5 41644 0 8.24307E-6
11-77823690-C-G p.Val146Leu missense ALG8 1 83282 1.20074E-5 41641 0 3.97776E-6
11-77823696-C-T p.Gly300Ser missense+splice_region ALG8 1 83278 1.2008E-5 41639 0 3.18532E-5
11-77823697-G-A p.Ile299Ile splice_region+synonymous ALG8 2 83276 2.40165E-5 41638 0 3.97776E-6
11-77823698-A-G p.Ile299Thr missense+splice_region ALG8 204 83280 0.00244957 41640 3 0.00509457
11-77823717-C-T p.Asp293Asn missense ALG8 2 83218 2.40333E-5 41609 0 5.77301E-5
11-77823720-A-G p.Leu292Leu synonymous ALG8 1 83198 1.20195E-5 41599 0 8.24824E-6
11-77823725-T-C p.Asn290Ser missense ALG8 24 83190 2.88496E-4 41595 0 4.77616E-4
11-77823732-A-G p.Leu288Leu synonymous ALG8 1649 83142 0.0198335 41571 91 0.0414013
11-77823737-C-T p.Trp286* stop_gained ALG8 2 83138 2.40564E-5 41569 0 3.97943E-6
11-77823742-G-C p.Asn284Lys missense ALG8 1 83092 1.20349E-5 41546 0 8.26091E-6
11-77823743-T-C p.Asn284Ser missense ALG8 2 83082 2.40726E-5 41541 0 NA
11-77823754-A-G p.Tyr280Tyr synonymous ALG8 1 83010 1.20467E-5 41505 0 6.61529E-5
11-77823791-C-T p.Arg268Gln missense ALG8 1294 82758 0.015636 41379 13 0.0140571
11-77823798-A-C p.Phe266Val missense ALG8 1 82810 1.20758E-5 41405 0 NA
11-77823807-GC-CT p.LeuPro262LeuAla missense ALG8 1 82772 1.20814E-5 41386 0 NA
11-77823814-A-T p.Asn260Lys missense+splice_region ALG8 4 82746 4.83407E-5 41373 0 3.1839E-5
11-77823821-T-C c.778-5A>G splice_region ALG8 1 82698 1.20922E-5 41349 0 NA
11-77824925-G-A c.777+7C>T splice_region ALG8 1 81992 1.21963E-5 40996 0 3.72856E-4
11-77824925-G-C c.777+7C>G splice_region ALG8 2 82004 2.43891E-5 41002 0 NA
11-77824926-G-A c.777+6C>T splice_region ALG8 1 82052 1.21874E-5 41026 0 NA
11-77824927-C-G c.777+5G>C splice_region ALG8 1 82028 1.2191E-5 41014 0 NA
11-77824928-T-A c.777+4A>T splice_region ALG8 1 82170 1.21699E-5 41085 0 NA
11-77824931-C-A c.777+1G>T splice_donor ALG8 2 82370 2.42807E-5 41185 0 1.18817E-5
11-77824952-A-G p.Leu253Leu synonymous ALG8 2 83014 2.40923E-5 41507 0 3.2175E-5
11-77824953-T-C p.Ser252Ser synonymous ALG8 1 82948 1.20557E-5 41474 0 5.37519E-5
11-77824968-T-C p.Leu247Leu synonymous ALG8 6 83082 7.22178E-5 41541 0 1.37642E-5
11-77824971-G-GA p.Val248fs frameshift ALG8 1 83112 1.2032E-5 41556 0 NA
11-77824982-GT-G p.Leu243fs frameshift ALG8 1 83178 1.20224E-5 41589 0 NA
11-77824999-C-T p.Arg237His missense ALG8 3 83170 3.60707E-5 41585 0 0.00100705
11-77825008-C-T p.Ser234Asn missense ALG8 2 83186 2.40425E-5 41593 0 6.5028E-5
11-77825009-T-C p.Ser234Gly missense ALG8 3 83184 3.60646E-5 41592 0 1.39692E-5
11-77825023-C-T p.Arg229Gln missense ALG8 1 83180 1.20221E-5 41590 0 4.3884E-5
11-77825024-G-A p.Arg229* stop_gained ALG8 1 83156 1.20256E-5 41578 0 3.19775E-5
11-77825027-T-C p.Ile228Val missense ALG8 22 83162 2.64544E-4 41581 0 6.07572E-4
11-77825031-C-A p.Gly226Gly synonymous ALG8 2 83174 2.4046E-5 41587 0 1.49997E-5
11-77825034-A-G p.Asp225Asp splice_region+synonymous ALG8 128 83168 0.00153905 41584 0 0.00159541
11-77825036-C-CTGGTT c.674-2_674-1insAACCA splice_acceptor ALG8 1 83156 1.20256E-5 41578 0 NA
11-77825037-T-TGGTTTATTTGCAGTGAAACAGTAGGATCGCAGCAGATATAC c.674-3_674-2insGTATATCTGCTGCGATCCTACTGTTTCACTGCAAATAAACC splice_region ALG8 2 83160 2.405E-5 41580 1 NA
11-77825037-T-C c.674-2A>G splice_acceptor ALG8 1 83160 1.2025E-5 41580 0 4.46046E-6
11-77825039-C-T c.674-4G>A splice_region ALG8 1 83128 1.20296E-5 41564 0 4.4924E-6
11-77825308-T-C c.673+4A>G splice_region ALG8 2 82654 2.41973E-5 41327 0 3.18451E-5
11-77825320-T-C p.Asn222Ser missense ALG8 17294 82116 0.210605 41058 1857 0.249496
11-77825341-C-G p.Arg215Pro missense ALG8 1 82932 1.20581E-5 41466 0 1.98033E-4
11-77825341-C-T p.Arg215Gln missense ALG8 1 82932 1.20581E-5 41466 0 6.25E-4
11-77825342-G-A p.Arg215* stop_gained ALG8 1 82938 1.20572E-5 41469 0 1.65025E-5
11-77825355-A-G p.Gly210Gly synonymous ALG8 1 83012 1.20465E-5 41506 0 NA
11-77825366-G-A p.Pro207Ser missense ALG8 2 83040 2.40848E-5 41520 0 3.98038E-6
11-77825368-G-A p.Ala206Val missense ALG8 1 83044 1.20418E-5 41522 0 NA
11-77825369-C-T p.Ala206Thr missense ALG8 2 83058 2.40796E-5 41529 0 1.19424E-5
11-77825379-G-A p.Thr234Ile missense ALG8 1 83090 1.20351E-5 41545 0 5.03525E-4
11-77825386-T-C p.His200Arg missense ALG8 6 83102 7.22004E-5 41551 0 8.26569E-6
11-77825388-C-G p.Lys199Asn missense ALG8 1 83098 1.2034E-5 41549 0 1.19421E-5
11-77825390-T-C p.Lys199Glu missense ALG8 1 83100 1.20337E-5 41550 0 NA
11-77825397-T-G p.Tyr228Ser missense ALG8 3 83108 3.60976E-5 41554 0 2.89625E-4
11-77825397-T-C p.Tyr228Cys missense ALG8 2 83108 2.40651E-5 41554 0 8.27499E-6
11-77825421-T-C p.Glu220Gly missense ALG8 1 83126 1.20299E-5 41563 0 NA
11-77825427-C-T p.Trp218* stop_gained ALG8 1 83128 1.20296E-5 41564 0 2.50288E-5
11-77825433-C-A p.Arg184Ser missense ALG8 1 83110 1.20322E-5 41555 0 NA
11-77825745-C-T c.641+5G>A splice_region ALG8 1 16736 5.97514E-5 8368 0 1.2738E-4
11-77825757-A-C p.Leu212Val missense ALG8 39 15344 0.00254171 7672 0 0.00687723
11-77825757-A-G p.Leu212Leu synonymous ALG8 3 15344 1.95516E-4 7672 0 5.73102E-4
11-77825760-C-T p.Gly211Arg missense ALG8 66 15076 0.00437782 7538 0 0.00952411
11-77825764-C-T p.Val209Val synonymous ALG8 1 14668 6.81756E-5 7334 0 NA
11-77825766-C-G p.Val209Leu missense ALG8 2 14484 1.38083E-4 7242 0 1.82732E-5
11-77825807-T-C p.Asn195Ser missense ALG8 2 10484 1.90767E-4 5242 0 7.69428E-4
11-77825827-A-T p.Ile188Ile synonymous ALG8 1 9178 1.08956E-4 4589 0 NA
11-77825851-A-G c.547-7T>C splice_region ALG8 1 6932 1.44259E-4 3466 0 NA
11-77830221-T-C c.546+7A>G splice_region ALG8 3 82082 3.65488E-5 41041 0 1.99515E-5
11-77830221-T-A c.546+7A>T splice_region ALG8 2 82080 2.43665E-5 41040 0 3.18593E-5
11-77830238-C-T p.Arg179Gln missense ALG8 7 82322 8.50319E-5 41161 0 0.00100806
11-77830239-G-A p.Arg179* stop_gained ALG8 1 82306 1.21498E-5 41153 0 3.18939E-5
11-77830246-G-A p.Ser176Ser synonymous ALG8 1 82460 1.21271E-5 41230 0 3.98343E-6
11-77830274-C-G p.Gly167Ala missense ALG8 2 82436 2.42612E-5 41218 0 3.98343E-6
11-77830283-T-C p.Gln164Arg missense ALG8 2 82362 2.4283E-5 41181 0 8.44338E-6
11-77830292-A-G p.Ile161Thr missense ALG8 3 82322 3.64423E-5 41161 0 9.96437E-5
11-77830295-T-TGGTCCACAATTAATAACCCGAAGTTCCACAGAAGTAATACCGA c.479-1_479insTCGGTATTACTTCTGTGGAACTTCGGGTTATTAATTGTGGACC splice_acceptor ALG8 1 82268 1.21554E-5 41134 0 NA
11-77832108-T-C c.478+3A>G splice_region ALG8 3 82980 3.61533E-5 41490 0 2.4726E-5
11-77832110-C-T c.478+1G>A splice_donor ALG8 18 82974 2.16935E-4 41487 0 2.23001E-4
11-77832129-C-T p.Gly154Arg missense ALG8 2 83132 2.40581E-5 41566 0 1.64818E-5
11-77832130-G-A p.Phe153Phe synonymous ALG8 4 83158 4.81012E-5 41579 0 1.55245E-4
11-77832143-A-C p.Leu149Arg missense ALG8 1 83212 1.20175E-5 41606 0 8.23968E-6
11-77832148-T-A p.Val147Val synonymous ALG8 42 83212 5.04735E-4 41606 0 4.03724E-4
11-77832148-T-C p.Val147Val synonymous ALG8 2 83212 2.4035E-5 41606 0 9.55779E-5
11-77832152-G-A p.Ser146Leu missense ALG8 3 83216 3.60508E-5 41608 0 1.64783E-5
11-77832154-C-T p.Leu145Leu synonymous ALG8 3 83218 3.60499E-5 41609 0 NA
11-77832159-T-A p.Ile144Phe missense ALG8 1 83220 1.20163E-5 41610 0 7.95906E-6
11-77832165-T-C p.Lys142Glu missense ALG8 2 83212 2.4035E-5 41606 0 NA
11-77832198-T-C p.Lys131Glu missense ALG8 1 83120 1.20308E-5 41560 0 NA
11-77832206-A-G p.Ile128Thr missense ALG8 1 83084 1.2036E-5 41542 0 8.24212E-6
11-77832207-T-C p.Ile128Val missense ALG8 15 83078 1.80553E-4 41539 0 0.0020141
11-77832226-T-C p.Met133Val missense ALG8 26 82902 3.13623E-4 41451 0 8.60366E-4
11-77832235-T-C p.Asn130Asp missense ALG8 3 82792 3.62354E-5 41396 0 6.38366E-5
11-77832240-A-G p.Phe128Ser missense ALG8 5 82726 6.04405E-5 41363 0 8.33667E-6
11-77832247-A-G p.Cys126Arg missense ALG8 1 82544 1.21148E-5 41272 0 8.37409E-6
11-77832257-T-A c.369-3A>T splice_region ALG8 2 82202 2.43303E-5 41101 0 4.02596E-6
11-77835070-C-T p.Arg122His missense ALG8 11 83248 1.32135E-4 41624 0 2.14792E-4
11-77835081-C-T p.Val118Val synonymous ALG8 1 83270 1.20091E-5 41635 0 6.3678E-5
11-77835093-A-C p.Asp114Glu missense ALG8 1 83290 1.20062E-5 41645 0 3.1839E-5
11-77835098-T-C p.Met113Val missense ALG8 5 83294 6.00283E-5 41647 0 3.18471E-5
11-77835107-C-T p.Val110Ile missense ALG8 2 83296 2.40108E-5 41648 0 1.59307E-4
11-77835108-G-A p.Ser109Ser synonymous ALG8 3 83292 3.60179E-5 41646 0 8.23683E-6
11-77835125-G-GT p.Leu104fs frameshift ALG8 1 83306 1.20039E-5 41653 0 NA
11-77835162-AT-A p.Asn91fs frameshift ALG8 1 83334 1.19999E-5 41667 0 NA
11-77835183-A-G p.Tyr84Tyr synonymous ALG8 1 83346 1.19982E-5 41673 0 3.18492E-5
11-77835184-T-C p.Tyr84Cys missense ALG8 53 83346 6.35903E-4 41673 1 0.00151057
11-77835185-AT-A p.Lys83fs frameshift ALG8 1 83346 1.19982E-5 41673 0 NA
11-77835193-A-G p.Val81Ala missense ALG8 1 83336 1.19996E-5 41668 0 NA
11-77835207-A-G p.Tyr76Tyr synonymous ALG8 1 83342 1.19988E-5 41671 0 3.1839E-5
11-77835220-G-A p.Ala72Val missense ALG8 7 83336 8.39973E-5 41668 0 3.18492E-5
11-77835229-G-A p.Pro69Leu missense ALG8 5 83338 5.99966E-5 41669 0 0.00100705
11-77835234-G-A p.Tyr67Tyr synonymous ALG8 1 83340 1.1999E-5 41670 0 1.19313E-5
11-77835244-G-A p.Thr64Met missense ALG8 9 83322 1.08015E-4 41661 0 0.00151057
11-77835247-C-T p.Trp63* stop_gained ALG8 1 83316 1.20025E-5 41658 0 NA
11-77838424-T-C p.Ile52Val missense ALG8 22 83262 2.64226E-4 41631 0 4.85476E-4
11-77838434-G-T p.His48Gln missense ALG8 1 83282 1.20074E-5 41641 0 3.97826E-6
11-77838435-T-G p.His48Pro missense ALG8 1 83288 1.20065E-5 41644 0 NA
11-77838439-T-A p.Thr47Ser missense ALG8 3 83290 3.60187E-5 41645 0 9.6432E-5
11-77838439-T-G p.Thr47Pro missense ALG8 2 83288 2.40131E-5 41644 0 1.19341E-5
11-77838455-T-A p.Arg41Arg synonymous ALG8 2 83296 2.40108E-5 41648 0 3.97804E-6
11-77838457-G-A p.Arg41* stop_gained ALG8 2 83292 2.40119E-5 41646 0 1.19355E-5
11-77838461-T-C p.Val39Val synonymous ALG8 1 83296 1.20054E-5 41648 0 3.97826E-6
11-77838474-G-T p.Thr35Lys missense ALG8 2 83254 2.40229E-5 41627 0 NA
11-77838487-T-C c.96-2A>G splice_acceptor ALG8 1 83098 1.2034E-5 41549 0 NA
11-77838488-C-G c.96-6G>C splice_region ALG8 241 83078 0.00290089 41539 1 0.00500626
11-77849786-C-G p.Arg13Thr missense ALG8 1 10432 9.58589E-5 5216 0 3.11434E-5
11-77849797-C-T c.-25G>A 5_prime_UTR_premature_start_codon_gain ALG8 3 10408 2.8824E-4 5204 0 0.0025
11-77849809-T-A p.Pro5Pro synonymous ALG8 1 10372 9.64134E-5 5186 0 NA
11-77850151-C-G c.-328G>C 5_prime_UTR_premature_start_codon_gain ALG8 1 7510 1.33156E-4 3755 0 3.1837E-5
11-77850533-C-T c.95+7G>A splice_region ALG8 5 81264 6.15279E-5 40632 0 6.18292E-6
11-77850537-T-TA c.95+2_95+3insT splice_donor ALG8 3 81322 3.68904E-5 40661 0 NA
11-77850542-T-C p.Ile7Val missense+splice_region ALG8 1 81396 1.22856E-5 40698 0 NA
11-77850545-G-A p.His6Tyr missense ALG8 1 81432 1.22802E-5 40716 0 NA
11-77850546-G-C p.Pro30Arg missense ALG8 2 81438 2.45586E-5 40719 0 NA
11-77850551-G-A p.His4Tyr missense ALG8 1 81464 1.22754E-5 40732 0 1.18217E-5
11-77850569-A-G c.-170+6T>C splice_region ALG8 2 81506 2.45381E-5 40753 0 5.77801E-6
11-77850575-C-T c.-170G>A splice_region ALG8 1 81534 1.22648E-5 40767 0 NA
11-77850581-C-T p.Ala18Ala synonymous ALG8 1 81558 1.22612E-5 40779 0 1.71548E-5
11-77850581-C-A p.Ala18Ala synonymous ALG8 5 81558 6.13061E-5 40779 0 3.98019E-4
11-77850583-C-A p.Ala18Ser missense ALG8 1 81564 1.22603E-5 40782 0 NA
11-77850590-C-A c.-30G>T 5_prime_UTR_premature_start_codon_gain ALG8 6 81546 7.35781E-5 40773 0 0.00255102
11-77850600-T-C p.Asn12Ser missense ALG8 2 81534 2.45296E-5 40767 0 NA
11-77850601-T-A p.Asn12Tyr missense ALG8 3 81524 3.6799E-5 40762 0 4.50816E-5
11-77850603-C-G p.Gly11Ala missense ALG8 7 81520 8.58685E-5 40760 0 0.00108656
11-77850605-A-C p.Thr10Thr synonymous ALG8 2 81510 2.45369E-5 40755 0 NA
11-77850615-G-A p.Ala7Val missense ALG8 3 81436 3.68387E-5 40718 0 6.14175E-6
11-77850619-T-C p.Ile6Val missense ALG8 2 81418 2.45646E-5 40709 0 6.15756E-6
11-77850621-G-C p.Thr5Arg missense ALG8 1 81388 1.22868E-5 40694 0 1.42221E-4
11-77850623-G-C c.-63C>G 5_prime_UTR_premature_start_codon_gain ALG8 1 81382 1.22877E-5 40691 0 NA
11-77850624-A-G p.Leu4Pro missense ALG8 2 81362 2.45815E-5 40681 0 NA
11-77850630-G-A p.Ala2Val missense ALG8 1 81332 1.22953E-5 40666 0 NA
11-77850634-T-C p.Met1? start_lost ALG8 2 81286 2.46045E-5 40643 0 2.42766E-4
11-77850641-G-A c.-7C>T 5_prime_UTR_premature_start_codon_gain ALG8 1 81092 1.23317E-5 40546 0 9.92654E-5
11-77850645-C-T c.-11G>A 5_prime_UTR_premature_start_codon_gain ALG8 1 80960 1.23518E-5 40480 0 6.40221E-6
11-77850659-C-T c.-25G>A 5_prime_UTR_premature_start_codon_gain ALG8 8 80586 9.92728E-5 40293 0 0.00223464