Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-6565931-G-C c.-259G>C 5_prime_UTR_premature_start_codon_gain AGPAT5 1 3162 3.16256E-4 1581 0 NA
8-6566008-C-T c.-182C>T 5_prime_UTR_premature_start_codon_gain AGPAT5 1 6982 1.43225E-4 3491 0 NA
8-6566014-C-T c.-176C>T 5_prime_UTR_premature_start_codon_gain AGPAT5 13 8626 0.00150707 4313 0 4.10256E-4
8-6566028-C-T c.-162C>T 5_prime_UTR_premature_start_codon_gain AGPAT5 1 15604 6.40861E-5 7802 0 NA
8-6566046-A-T c.-144A>T 5_prime_UTR_premature_start_codon_gain AGPAT5 4 28148 1.42106E-4 14074 0 7.00574E-5
8-6566111-G-T c.-79G>T 5_prime_UTR_premature_start_codon_gain AGPAT5 3 65000 4.61538E-5 32500 0 1.04457E-4
8-6566125-C-T c.-65C>T 5_prime_UTR_premature_start_codon_gain AGPAT5 1 69962 1.42935E-5 34981 0 NA
8-6566130-C-A c.-60C>A 5_prime_UTR_premature_start_codon_gain AGPAT5 91 71586 0.0012712 35793 0 0.00128892
8-6566182-C-T c.-8C>T 5_prime_UTR_premature_start_codon_gain AGPAT5 17 77960 2.18061E-4 38980 0 2.11218E-5
8-6566194-T-C p.Leu2Pro missense AGPAT5 2 79406 2.5187E-5 39703 0 2.82646E-5
8-6566196-C-T p.Leu3Leu synonymous AGPAT5 1 79500 1.25786E-5 39750 0 9.03881E-6
8-6566201-C-T p.Ser4Ser synonymous AGPAT5 1 79932 1.25106E-5 39966 0 3.2204E-5
8-6566201-C-A p.Ser4Ser synonymous AGPAT5 1 79932 1.25106E-5 39966 0 6.44081E-5
8-6566216-G-C p.Val1Leu missense AGPAT5 2 80502 2.48441E-5 40251 0 NA
8-6566217-T-TA p.Tyr10fs frameshift AGPAT5 1 80550 1.24146E-5 40275 0 NA
8-6566219-C-T p.Leu2Phe missense AGPAT5 1 80666 1.23968E-5 40333 0 1.03533E-5
8-6566223-A-G p.Met12Val missense AGPAT5 1 80818 1.23735E-5 40409 0 2.02045E-5
8-6566232-C-T p.Pro6Leu missense AGPAT5 3 81016 3.70297E-5 40508 0 4.13039E-6
8-6566234-G-C p.Ala7Pro missense AGPAT5 1 80984 1.23481E-5 40492 0 1.94265E-5
8-6566242-G-C p.Ser18Thr missense AGPAT5 1 81016 1.23432E-5 40508 0 NA
8-6566246-C-T p.Arg11Cys missense AGPAT5 11 81082 1.35665E-4 40541 1 5.04541E-4
8-6566252-C-G p.Pro13Ala missense AGPAT5 2 81118 2.46554E-5 40559 0 4.1174E-6
8-6566255-G-A p.Gly14Arg missense AGPAT5 1 81094 1.23314E-5 40547 0 4.12228E-6
8-6566263-C-T p.Ala25Val missense AGPAT5 1 80902 1.23606E-5 40451 0 9.40787E-6
8-6566274-G-A p.Val29Met missense AGPAT5 2 80878 2.47286E-5 40439 0 NA
8-6566280-G-A p.Ala31Thr missense AGPAT5 1 80838 1.23704E-5 40419 0 3.19775E-5
8-6566280-G-C p.Ala31Pro missense AGPAT5 2 80838 2.47408E-5 40419 0 NA
8-6566287-G-C p.Gly33Ala missense AGPAT5 1636 80672 0.0202797 40336 22 0.04125
8-6566288-G-C p.Gly25Arg missense AGPAT5 10 80676 1.23953E-4 40338 0 6.39795E-5
8-6566289-G-T p.Val34Phe missense AGPAT5 2 80576 2.48213E-5 40288 0 9.28229E-6
8-6566291-C-G p.Leu26Val missense AGPAT5 3 80448 3.72912E-5 40224 0 NA
8-6566303-C-T p.Leu30Phe missense AGPAT5 49 80220 6.1082E-4 40110 0 3.34716E-4
8-6566303-C-G p.Leu30Val missense AGPAT5 1 80222 1.24654E-5 40111 0 NA
8-6566305-C-T p.Ser39Phe missense AGPAT5 1 80252 1.24607E-5 40126 0 3.70663E-5
8-6566306-C-T p.Arg31Cys missense AGPAT5 1 80254 1.24604E-5 40127 0 4.11828E-6
8-6566309-C-G p.Leu32Val missense AGPAT5 1 80350 1.24456E-5 40175 0 4.10307E-6
8-6566314-T-G p.Leu42Arg missense AGPAT5 2 80288 2.49103E-5 40144 0 9.18982E-6
8-6566315-G-A p.Ala34Thr missense AGPAT5 1 80280 1.24564E-5 40140 0 9.18611E-6
8-6566334-G-C p.Ala49Pro missense AGPAT5 3 80384 3.73209E-5 40192 0 NA
8-6566334-G-T p.Ala49Ser missense AGPAT5 1 80384 1.24403E-5 40192 0 NA
8-6566337-C-G p.Leu50Val missense AGPAT5 1 80420 1.24347E-5 40210 0 NA
8-6566345-C-T p.Pro44Ser missense AGPAT5 1 80448 1.24304E-5 40224 0 3.19407E-5
8-6566348-G-C p.Ala45Pro missense AGPAT5 1 80470 1.2427E-5 40235 0 8.96009E-6
8-6566349-C-G p.Leu54Val missense AGPAT5 2 80520 2.48385E-5 40260 0 NA
8-6566351-C-G p.Leu46Val missense AGPAT5 5855 80420 0.0728053 40210 294 0.118125
8-6566356-G-A p.Cys56Tyr missense AGPAT5 2 80588 2.48176E-5 40294 0 4.04993E-6
8-6566357-C-T p.Arg48Cys missense AGPAT5 1 80564 1.24125E-5 40282 0 3.19305E-5
8-6566360-C-A p.Leu49Ile missense AGPAT5 3 80654 3.71959E-5 40327 0 3.19203E-5
8-6566360-C-T p.Val57Val synonymous AGPAT5 2 80654 2.47973E-5 40327 0 4.49956E-5
8-6566368-G-T p.Ser60Ile missense AGPAT5 1 80634 1.24017E-5 40317 0 3.19264E-5
8-6566369-C-A p.Ser60Arg missense AGPAT5 3 80638 3.72033E-5 40319 0 6.38127E-5
8-6566373-G-A p.Val62Met missense AGPAT5 3 80720 3.71655E-5 40360 0 8.15315E-6
8-6566376-CTCT-C p.Leu57del disruptive_inframe_deletion AGPAT5 1 80692 1.23928E-5 40346 0 6.3861E-5
8-6566398-C-T p.Thr70Ile missense AGPAT5 1 80520 1.24193E-5 40260 0 NA
8-6566414-C-T c.219+6C>T splice_region AGPAT5 2 80060 2.49813E-5 40030 0 2.4793E-5
8-6566415-C-T p.Arg12Cys missense AGPAT5 1 79990 1.25016E-5 39995 0 NA
8-6566422-C-G p.Pro14Arg missense AGPAT5 3 79782 3.76025E-5 39891 0 6.38855E-5
8-6566424-C-A p.Leu15Ile missense AGPAT5 2 79628 2.51168E-5 39814 0 6.38366E-5
8-6566425-T-C p.Leu15Pro missense AGPAT5 1 79478 1.25821E-5 39739 0 NA
8-6566426-C-T p.Leu15Leu synonymous AGPAT5 1 79570 1.25676E-5 39785 0 9.57732E-5
8-6566429-G-A p.Pro16Pro synonymous AGPAT5 1 79418 1.25916E-5 39709 0 NA
8-6566430-G-C p.Gly17Arg missense AGPAT5 3 79320 3.78215E-5 39660 0 7.71796E-5
8-6566431-G-C p.Gly17Ala missense AGPAT5 2 79224 2.52449E-5 39612 0 3.1747E-5
8-6566433-C-T p.Leu18Phe missense AGPAT5 1 79154 1.26336E-5 39577 0 NA
8-6566436-G-A p.Gly19Ser missense AGPAT5 13 78874 1.6482E-4 39437 0 6.25782E-4
8-6566441-C-A p.Val20Val synonymous AGPAT5 117 78432 0.00149174 39216 1 0.00159051
8-6566442-C-T p.His21Tyr missense AGPAT5 1 78340 1.27649E-5 39170 0 6.27353E-4
8-6566443-AC-A p.Pro22fs frameshift AGPAT5 1 78112 1.28021E-5 39056 0 NA
8-6566444-C-T p.His21His synonymous AGPAT5 1 78192 1.2789E-5 39096 0 NA
8-6566449-G-A p.Ser23Asn missense AGPAT5 339 77540 0.00437194 38770 1 0.00734683
8-6566452-C-G p.Ser24Cys missense AGPAT5 1 77342 1.29296E-5 38671 0 NA
8-6566457-G-T p.Gly26Trp missense AGPAT5 2 76762 2.60546E-5 38381 0 2.62161E-4
8-6566457-G-C p.Gly26Arg missense AGPAT5 1 76762 1.30273E-5 38381 0 3.47504E-5
8-6566459-G-C p.Gly26Gly synonymous AGPAT5 1 76360 1.30959E-5 38180 0 5.87641E-6
8-6566464-G-A p.Gly28Glu missense AGPAT5 1 75808 1.31912E-5 37904 0 NA
8-6566466-C-T p.Pro29Ser missense AGPAT5 10 75660 1.3217E-4 37830 0 4.4717E-4
8-6566471-C-G p.Leu30Leu synonymous AGPAT5 1 75020 1.33298E-5 37510 0 NA
8-6566474-C-T p.Arg31Arg synonymous AGPAT5 1 74022 1.35095E-5 37011 0 NA
8-6566475-T-G p.Ser32Ala missense AGPAT5 19 73714 2.57753E-4 36857 0 2.01898E-4
8-6566478-C-G p.Pro33Ala missense AGPAT5 1 73806 1.3549E-5 36903 0 3.1902E-5
8-6566478-C-T p.Pro33Ser missense AGPAT5 4 73806 5.41961E-5 36903 0 5.02361E-5
8-6566480-C-A p.Pro33Pro synonymous AGPAT5 1 73540 1.3598E-5 36770 0 5.34588E-5
8-6566480-CA-C p.Thr34fs frameshift AGPAT5 1 73542 1.35977E-5 36771 0 NA
8-6566480-C-G p.Pro33Pro synonymous AGPAT5 2 73542 2.71953E-5 36771 0 5.34588E-5
8-6566488-G-C p.Gly36Ala missense AGPAT5 1 71664 1.3954E-5 35832 0 NA
8-6566488-G-A p.Gly36Asp missense AGPAT5 1 71664 1.3954E-5 35832 0 NA
8-6566497-A-G p.His39Arg missense AGPAT5 2 68740 2.90951E-5 34370 0 NA
8-6566499-C-T p.Pro40Ser missense AGPAT5 1 68540 1.459E-5 34270 0 7.64316E-6
8-6566500-C-G p.Pro40Arg missense AGPAT5 3 68006 4.41138E-5 34003 0 9.57977E-5
8-6566501-G-C p.Pro40Pro synonymous AGPAT5 75 67706 0.00110773 33853 0 0.00429106
8-6566501-G-T p.Pro40Pro synonymous AGPAT5 1 67712 1.47684E-5 33856 0 7.63534E-6
8-6566502-GC-G p.Gly42fs frameshift AGPAT5 2 67082 2.98143E-5 33541 0 NA
8-6566503-C-T p.Ala41Val missense AGPAT5 1 67150 1.4892E-5 33575 0 9.42329E-5
8-6566507-C-T p.Gly42Gly synonymous AGPAT5 6 65796 9.1191E-5 32898 0 3.19122E-5
8-6566510-G-A p.Pro43Pro synonymous AGPAT5 1 64594 1.54813E-5 32297 0 3.1955E-5
8-6566517-C-G p.Pro46Ala missense AGPAT5 1 62526 1.59933E-5 31263 0 NA
8-6566519-A-C p.Pro46Pro synonymous AGPAT5 2 62006 3.22549E-5 31003 0 7.84191E-6
8-6566521-C-T p.Ala47Val missense AGPAT5 2 61182 3.26894E-5 30591 0 NA
8-6566524-G-A p.Arg48Gln missense AGPAT5 6 59754 1.00412E-4 29877 0 1.5661E-5
8-6566533-G-A p.Arg51His missense AGPAT5 4 55172 7.25005E-5 27586 0 1.89334E-4
8-6566535-GC-TT p.Ala52Phe missense AGPAT5 3 53988 5.55679E-5 26994 0 NA
8-6566536-C-T p.Ala52Val missense AGPAT5 1 53784 1.85929E-5 26892 0 NA
8-6566543-C-CCCGCCTTCCTCT p.Pro56_Pro59dup disruptive_inframe_insertion AGPAT5 1 50812 1.96804E-5 25406 0 NA
8-6566545-C-G p.Pro55Arg missense AGPAT5 1 49586 2.0167E-5 24793 0 NA
8-6566547-C-T p.Pro56Ser missense AGPAT5 5 48116 1.03916E-4 24058 0 2.38235E-5
8-6566557-C-G p.Pro59Arg missense AGPAT5 1 43052 2.32277E-5 21526 0 1.60267E-5
8-6566558-G-A p.Pro59Pro synonymous AGPAT5 1 42304 2.36384E-5 21152 0 NA
8-6566566-C-T p.Ser62Phe missense AGPAT5 1 39022 2.56266E-5 19511 0 9.71628E-5
8-6566571-C-G p.Arg64Gly missense AGPAT5 1 36564 2.73493E-5 18282 0 4.13066E-5
8-6566572-G-T p.Arg64Leu missense AGPAT5 6 36314 1.65226E-4 18157 0 6.37064E-5
8-6566572-G-C p.Arg64Pro missense AGPAT5 1 36316 2.75361E-5 18158 0 8.36792E-6
8-6566579-C-G p.Ala66Ala synonymous AGPAT5 2 33738 5.92803E-5 16869 0 1.98334E-4
8-6566587-C-T p.Ala69Val missense AGPAT5 2 30166 6.62998E-5 15083 0 NA
8-6566587-C-G p.Ala69Gly missense AGPAT5 1 30166 3.31499E-5 15083 0 NA
8-6566589-C-A p.Leu70Ile missense AGPAT5 1 29894 3.34515E-5 14947 0 NA
8-6566591-C-T p.Leu70Leu synonymous AGPAT5 10 29258 3.41787E-4 14629 0 8.88099E-4
8-6566688-G-C c.*89+5G>C splice_region AGPAT5 4 13758 2.9074E-4 6879 0 0.00146441
8-6582388-T-C c.220-3T>C splice_region AGPAT5 1 68276 1.46464E-5 34138 0 4.96352E-5
8-6582399-A-G p.Leu76Leu synonymous AGPAT5 1 69390 1.44113E-5 34695 0 7.81779E-5
8-6582399-A-C p.Leu76Leu synonymous AGPAT5 1 69390 1.44113E-5 34695 0 9.58075E-6
8-6582399-A-T p.Leu76Leu synonymous AGPAT5 2 69390 2.88226E-5 34695 0 2.87422E-5
8-6582408-T-C p.Asp79Asp synonymous AGPAT5 2 69698 2.86952E-5 34849 0 NA
8-6582436-T-C p.Tyr89His missense AGPAT5 1 70190 1.4247E-5 35095 0 NA
8-6582442-G-A p.Ala91Thr missense AGPAT5 1 70274 1.423E-5 35137 0 NA
8-6588224-C-G c.290-8C>G splice_region AGPAT5 12 82858 1.44826E-4 41429 0 3.86747E-4
8-6588226-C-G c.290-6C>G splice_region AGPAT5 2 82914 2.41214E-5 41457 0 1.19516E-5
8-6588228-G-T c.290-4G>T splice_region AGPAT5 2 82940 2.41138E-5 41470 0 NA
8-6588243-G-A p.Val101Ile missense AGPAT5 1 83166 1.20241E-5 41583 0 NA
8-6588247-C-A p.Ala102Asp missense AGPAT5 1 83182 1.20218E-5 41591 0 NA
8-6588252-A-G p.Ile104Val missense AGPAT5 1 83180 1.20221E-5 41590 0 8.25205E-6
8-6588254-C-G p.Ile104Met missense AGPAT5 2 83206 2.40367E-5 41603 0 1.65022E-5
8-6588255-T-C p.Leu105Leu synonymous AGPAT5 15 83208 1.80271E-4 41604 0 5.10465E-4
8-6588258-G-T p.Ala106Ser missense AGPAT5 73 83198 8.77425E-4 41599 0 0.0175
8-6588260-C-A p.Pro83Gln missense AGPAT5 1 83208 1.20181E-5 41604 0 NA
8-6588261-A-T p.Ile107Phe missense AGPAT5 2 83206 2.40367E-5 41603 0 NA
8-6588261-A-G p.Ile107Val missense AGPAT5 2 83206 2.40367E-5 41603 0 6.37633E-5
8-6588274-C-T p.Ala111Val missense AGPAT5 8 83244 9.6103E-5 41622 0 0.00100705
8-6588275-G-A p.Arg88His missense AGPAT5 4 83256 4.80446E-5 41628 0 2.473E-5
8-6588277-T-C p.Ter89Glnext*? stop_lost AGPAT5 2 83260 2.40211E-5 41630 0 1.64853E-5
8-6588278-A-G p.Ter89Trpext*? stop_lost AGPAT5 16 83250 1.92192E-4 41625 0 2.55021E-4
8-6588282-C-A p.His114Asn missense AGPAT5 13 83278 1.56104E-4 41639 1 3.70895E-4
8-6588282-C-T p.His114Tyr missense AGPAT5 1 83278 1.2008E-5 41639 0 NA
8-6588283-A-G p.His114Arg missense AGPAT5 1 83258 1.20109E-5 41629 0 NA
8-6588284-T-A p.His114Gln missense AGPAT5 8 83272 9.60707E-5 41636 0 3.29679E-5
8-6588284-T-C p.His114His synonymous AGPAT5 1 83276 1.20083E-5 41638 0 NA
8-6588294-G-A p.Val118Met missense AGPAT5 1 83260 1.20106E-5 41630 0 8.24144E-6
8-6588304-AAGGG-A p.Glu121fs frameshift AGPAT5 1 83254 1.20114E-5 41627 0 NA
8-6588309-TTA-T p.Leu123fs frameshift AGPAT5 1 83238 1.20137E-5 41619 0 NA
8-6588311-A-T p.Leu123Phe missense AGPAT5 1 83232 1.20146E-5 41616 0 3.97738E-6
8-6588311-A-G p.Leu123Leu synonymous AGPAT5 1 83232 1.20146E-5 41616 0 3.1902E-5
8-6588323-A-G p.Pro127Pro synonymous AGPAT5 511 83156 0.00614508 41578 6 0.0107458
8-6588341-T-C p.Phe133Phe synonymous AGPAT5 1 83066 1.20386E-5 41533 0 8.24783E-6
8-6588344-T-C p.Ala134Ala synonymous AGPAT5 1 83034 1.20433E-5 41517 0 NA
8-6588347-G-GCAT c.405_405+1insCAT splice_donor AGPAT5 1 83020 1.20453E-5 41510 0 NA
8-6588351-A-G c.405+4A>G splice_region AGPAT5 1 82972 1.20523E-5 41486 0 8.25887E-6
8-6590074-T-C c.406-8T>C splice_region AGPAT5 8 82694 9.67422E-5 41347 0 1.81292E-4
8-6590078-G-A c.406-4G>A splice_region AGPAT5 2 82764 2.41651E-5 41382 0 6.01736E-5
8-6590095-A-T p.Tyr140Phe missense AGPAT5 1 82980 1.20511E-5 41490 0 NA
8-6590095-A-G p.Tyr140Cys missense AGPAT5 1 82980 1.20511E-5 41490 0 NA
8-6590103-C-T p.Arg143Cys missense AGPAT5 2 83046 2.4083E-5 41523 0 2.52317E-5
8-6590104-G-A p.Arg143His missense AGPAT5 2 83054 2.40807E-5 41527 0 1.68127E-5
8-6590106-A-G p.Ser144Gly missense AGPAT5 1 83074 1.20375E-5 41537 0 4.032E-6
8-6590110-C-G p.Ala145Gly missense AGPAT5 2 83082 2.40726E-5 41541 0 5.03525E-4
8-6590113-A-G p.Lys146Arg missense AGPAT5 5 83086 6.01786E-5 41543 0 8.38842E-6
8-6590120-C-T p.Asn148Asn synonymous AGPAT5 1 83090 1.20351E-5 41545 0 4.02223E-6
8-6590126-A-G p.Lys150Lys synonymous AGPAT5 2115 83096 0.0254525 41548 80 0.045249
8-6590127-G-C p.Glu151Gln missense AGPAT5 2 83134 2.40575E-5 41567 0 1.68418E-5
8-6590131-T-C p.Met152Thr missense AGPAT5 1 83136 1.20285E-5 41568 0 4.02156E-6
8-6590134-G-A p.Arg153Gln missense AGPAT5 3 83134 3.60863E-5 41567 0 3.1841E-5
8-6590141-G-C p.Lys155Asn missense AGPAT5 1 83118 1.20311E-5 41559 0 NA
8-6590142-T-C p.Leu156Leu synonymous AGPAT5 98 83122 0.00117899 41561 1 0.0018785
8-6590150-C-A p.Ser158Arg missense AGPAT5 2 83118 2.40622E-5 41559 0 2.9175E-4
8-6590153-C-G p.Tyr159* stop_gained AGPAT5 1 83112 1.2032E-5 41556 0 1.72301E-5
8-6590153-C-T p.Tyr159Tyr synonymous AGPAT5 1 83112 1.2032E-5 41556 0 3.44602E-5
8-6590154-G-A p.Val160Met missense AGPAT5 4 83118 4.81244E-5 41559 0 9.5511E-5
8-6590156-G-A p.Val160Val synonymous AGPAT5 1 83104 1.20331E-5 41552 0 8.65696E-6
8-6590160-G-A p.Ala162Thr missense AGPAT5 85 83076 0.00102316 41538 0 0.00352467
8-6590161-C-CA p.Gly163fs frameshift AGPAT5 1 83070 1.2038E-5 41535 0 NA
8-6590162-A-G p.Ala162Ala synonymous AGPAT5 1 83070 1.2038E-5 41535 0 NA
8-6590169-C-T p.Pro165Ser missense+splice_region AGPAT5 1 83040 1.20424E-5 41520 0 NA
8-6590174-A-T c.495+3A>T splice_region AGPAT5 1 83002 1.20479E-5 41501 0 NA
8-6590177-A-G c.495+6A>G splice_region AGPAT5 2 82964 2.41068E-5 41482 0 NA
8-6599176-C-A c.496-6C>A splice_region AGPAT5 1 82020 1.21921E-5 41010 0 NA
8-6599182-A-G p.Met166Val missense+splice_region AGPAT5 2 82374 2.42795E-5 41187 0 4.125E-5
8-6599186-A-G p.Tyr167Cys missense AGPAT5 1 82446 1.21292E-5 41223 0 NA
8-6599188-C-A p.Leu168Ile missense AGPAT5 1 82506 1.21203E-5 41253 0 NA
8-6599202-A-G p.Pro172Pro synonymous AGPAT5 10 82558 1.21127E-4 41279 0 1.02455E-4
8-6599208-T-A p.Gly174Gly synonymous AGPAT5 1 82734 1.20869E-5 41367 0 4.02761E-6
8-6599208-T-C p.Gly174Gly synonymous AGPAT5 1 82734 1.20869E-5 41367 0 NA
8-6599211-A-G p.Thr175Thr synonymous AGPAT5 1 82746 1.20852E-5 41373 0 NA
8-6599212-A-C p.Arg176Arg synonymous AGPAT5 4 82762 4.83314E-5 41381 0 0.00151057
8-6599226-G-A p.Glu180Glu synonymous AGPAT5 6 82854 7.24165E-5 41427 0 3.18613E-5
8-6599231-C-T p.Thr182Ile missense AGPAT5 9 82850 1.0863E-4 41425 0 2.23072E-4
8-6599235-A-T p.Lys183Asn missense AGPAT5 1 82840 1.20715E-5 41420 0 7.99035E-6
8-6599246-C-T p.Ala187Val missense AGPAT5 1 82816 1.2075E-5 41408 0 NA
8-6599253-G-A p.Gln189Gln synonymous AGPAT5 2 82752 2.41686E-5 41376 0 1.20186E-5
8-6599265-C-A p.Ala193Ala synonymous AGPAT5 1 82650 1.20992E-5 41325 0 NA
8-6599269-C-T p.Arg195Cys missense AGPAT5 3 82578 3.63293E-5 41289 0 4.12746E-5
8-6599270-G-A p.Arg195His missense+splice_region AGPAT5 143 82558 0.00173212 41279 0 0.00340873
8-6599273-G-GCCTTGCAGTATTAAAACATGTGCTAACACCACGAA c.586+1_586+2insCCTTGCAGTATTAAAACATGTGCTAACACCACGAA splice_donor AGPAT5 2 82500 2.42424E-5 41250 1 NA
8-6599273-G-GCC c.586+1_586+2insCC splice_donor AGPAT5 2 82500 2.42424E-5 41250 1 NA
8-6599275-A-G c.586+3A>G splice_region AGPAT5 1 82478 1.21244E-5 41239 0 8.26064E-6
8-6605193-C-T p.Leu197Phe missense+splice_region AGPAT5 2 83324 2.40027E-5 41662 0 1.19657E-5
8-6605195-T-C p.Leu197Leu synonymous AGPAT5 1 83326 1.20011E-5 41663 0 8.36526E-6
8-6605198-A-G p.Ala198Ala synonymous AGPAT5 3 83330 3.60014E-5 41665 0 4.17279E-5
8-6605199-G-C p.Val199Leu missense AGPAT5 5 83338 5.99966E-5 41669 0 1.19469E-5
8-6605201-A-G p.Val199Val synonymous AGPAT5 5 83348 5.99894E-5 41674 0 8.32792E-6
8-6605208-CAT-C p.His202fs frameshift AGPAT5 4 83356 4.79869E-5 41678 0 2.78662E-5
8-6605210-T-C p.His202His synonymous AGPAT5 1 83358 1.19964E-5 41679 0 NA
8-6605222-A-G p.Pro206Pro synonymous AGPAT5 1 83356 1.19967E-5 41678 0 NA
8-6605223-C-T p.Arg207* stop_gained AGPAT5 2 83352 2.39946E-5 41676 0 2.38707E-5
8-6605224-G-A p.Arg207Gln missense AGPAT5 1 83352 1.19973E-5 41676 0 3.18451E-5
8-6605225-A-T p.Arg207Arg synonymous AGPAT5 2 83354 2.3994E-5 41677 0 NA
8-6605227-T-C p.Ile208Thr missense AGPAT5 2 83356 2.39935E-5 41678 0 NA
8-6605238-C-T p.His212Tyr missense AGPAT5 1 83348 1.19979E-5 41674 0 2.47451E-5
8-6605240-C-T p.His212His synonymous AGPAT5 3 83344 3.59954E-5 41672 0 3.1839E-5
8-6605241-G-T p.Val213Phe missense AGPAT5 1 83346 1.19982E-5 41673 0 NA
8-6605241-G-A p.Val213Ile missense AGPAT5 2 83344 2.39969E-5 41672 0 3.18492E-5
8-6605250-G-T p.Asp216Tyr missense AGPAT5 2 83332 2.40004E-5 41666 0 3.97738E-6
8-6605254-G-A p.Cys217Tyr missense AGPAT5 2 83334 2.39998E-5 41667 0 NA
8-6605272-A-G p.Asp223Gly missense AGPAT5 1 83356 1.19967E-5 41678 0 5.03525E-4
8-6605282-T-C p.Tyr226Tyr synonymous AGPAT5 2 83352 2.39946E-5 41676 0 NA
8-6605286-G-A p.Val228Ile missense AGPAT5 1 83350 1.19976E-5 41675 0 NA
8-6605291-G-A p.Thr229Thr synonymous AGPAT5 6 83334 7.19994E-5 41667 0 1.23611E-4
8-6605309-A-G p.Lys235Lys synonymous AGPAT5 72 83316 8.6418E-4 41658 0 0.00264331
8-6605309-AGA-GGC p.LysAsp235LysAla missense AGPAT5 2 83316 2.4005E-5 41658 0 NA
8-6605312-C-T p.Asp236Asp synonymous AGPAT5 1 83304 1.20042E-5 41652 0 2.3869E-5
8-6605315-T-C p.Asp237Asp synonymous AGPAT5 3 83298 3.60153E-5 41649 0 6.36943E-5
8-6605321-G-C p.Gly239Gly synonymous AGPAT5 86 83292 0.00103251 41646 1 0.00242023
8-6605325-C-T p.Arg241* stop_gained AGPAT5 1 83282 1.20074E-5 41641 0 3.97981E-6
8-6605333-G-C p.Glu243Asp missense AGPAT5 1 83272 1.20088E-5 41636 0 3.97937E-6
8-6605337-C-G p.Pro245Ala missense AGPAT5 1 83248 1.20123E-5 41624 0 3.18431E-5
8-6605338-C-T p.Pro245Leu missense AGPAT5 3 83236 3.60421E-5 41618 0 1.65306E-5
8-6605339-G-A p.Pro245Pro synonymous AGPAT5 1 83236 1.2014E-5 41618 0 2.78747E-5
8-6605342-C-T p.Thr246Thr synonymous AGPAT5 3 83230 3.60447E-5 41615 0 8.26774E-6
8-6605342-C-G p.Thr246Thr synonymous AGPAT5 2 83230 2.40298E-5 41615 0 8.26774E-6
8-6605346-A-G p.Thr248Ala missense AGPAT5 4 83208 4.80723E-5 41604 0 3.1839E-5
8-6605347-C-T p.Thr248Met missense+splice_region AGPAT5 2 83214 2.40344E-5 41607 0 3.18431E-5
8-6605348-G-A p.Thr248Thr splice_region+synonymous AGPAT5 8 83208 9.61446E-5 41604 0 1.27389E-4
8-6605349-GGTAA-G c.745+1_745+4delGTAA splice_donor AGPAT5 4 83192 4.80815E-5 41596 0 NA
8-6605349-G-GAATTTCTCTGCAAAGAAT c.745_745+1insAATTTCTCTGCAAAGAAT splice_donor AGPAT5 1 83192 1.20204E-5 41596 0 NA
8-6605350-G-GT c.745+1_745+2insT splice_donor AGPAT5 2 83184 2.40431E-5 41592 0 3.1835E-5
8-6612584-A-G p.Lys253Arg missense AGPAT5 1 83076 1.20372E-5 41538 0 3.1839E-5
8-6612598-A-C p.Ile258Leu missense AGPAT5 1 83128 1.20296E-5 41564 0 8.63662E-6
8-6612607-C-A p.His261Asn missense AGPAT5 1 83156 1.20256E-5 41578 0 NA
8-6612609-C-T p.His261His synonymous AGPAT5 5 83160 6.01251E-5 41580 0 1.19238E-4
8-6612617-G-A p.Arg264His missense AGPAT5 5 83172 6.01164E-5 41586 0 0.00100705
8-6612622-G-A p.Asp266Asn missense AGPAT5 1 83190 1.20207E-5 41595 0 8.19095E-6
8-6612627-A-G p.Lys267Lys synonymous AGPAT5 6 83220 7.20981E-5 41610 0 1.9588E-4
8-6612631-G-C p.Asp269His missense AGPAT5 1 83224 1.20158E-5 41612 0 NA
8-6612634-G-T p.Val270Phe missense AGPAT5 1 83228 1.20152E-5 41614 0 8.39053E-6
8-6612641-A-T p.Glu272Val missense AGPAT5 1 83220 1.20163E-5 41610 0 8.37297E-6
8-6612646-C-T p.Gln274* stop_gained AGPAT5 3 83228 3.60456E-5 41614 0 NA
8-6612653-A-G p.His276Arg missense AGPAT5 2 83246 2.40252E-5 41623 0 3.33884E-5
8-6612654-T-C p.His276His synonymous AGPAT5 3 83242 3.60395E-5 41621 0 1.66945E-5
8-6612655-A-T p.Met277Leu missense AGPAT5 3 83250 3.6036E-5 41625 0 NA
8-6612662-G-C p.Arg279Thr missense AGPAT5 1 83256 1.20111E-5 41628 0 8.33417E-6
8-6612667-C-T p.Leu281Leu synonymous AGPAT5 3 83232 3.60438E-5 41616 0 4.12038E-6
8-6612669-G-T p.Leu281Leu synonymous AGPAT5 3 83226 3.60464E-5 41613 0 1.25094E-5
8-6612670-C-T p.His282Tyr missense AGPAT5 1 83232 1.20146E-5 41616 0 8.34188E-6
8-6612675-A-G p.Glu283Glu synonymous AGPAT5 1 83224 1.20158E-5 41612 0 NA
8-6612682-G-A p.Glu286Lys missense AGPAT5 2 83216 2.40338E-5 41608 0 6.25E-4
8-6612696-G-GATGCTTATAGAATTTTA c.869+1_869+2insATGCTTATAGAATTTTA splice_donor AGPAT5 1 83190 1.20207E-5 41595 0 NA
8-6612698-G-C c.869+3G>C splice_region AGPAT5 4 83180 4.80885E-5 41590 0 8.64581E-6
8-6612700-G-T c.869+5G>T splice_region AGPAT5 1 83172 1.20233E-5 41586 0 NA
8-6614680-A-G c.870-4A>G splice_region AGPAT5 147 82560 0.00178052 41280 1 0.00761421
8-6614685-A-G p.Met291Val missense+splice_region AGPAT5 32 82678 3.87044E-4 41339 0 0.00445746
8-6614694-G-C p.Glu294Gln missense AGPAT5 1 82852 1.20697E-5 41426 0 3.99128E-6
8-6614705-G-C p.Glu297Asp missense AGPAT5 1 82960 1.2054E-5 41480 0 1.19553E-5
8-6614709-C-G p.Pro299Ala missense AGPAT5 1 82964 1.20534E-5 41482 0 NA
8-6614717-A-C p.Pro301Pro synonymous AGPAT5 1 83044 1.20418E-5 41522 0 NA
8-6614724-A-G p.Arg304Gly missense AGPAT5 1 83132 1.20291E-5 41566 0 2.50284E-5
8-6614732-A-G p.Arg306Arg synonymous AGPAT5 1 83194 1.20201E-5 41597 0 1.66055E-5
8-6614733-T-G p.Phe307Val missense AGPAT5 1 83190 1.20207E-5 41595 0 8.29958E-6
8-6614735-T-C p.Phe307Phe synonymous AGPAT5 1 83200 1.20192E-5 41600 0 NA
8-6614737-C-G p.Pro308Arg missense AGPAT5 2 83214 2.40344E-5 41607 0 NA
8-6614740-G-A p.Gly309Glu missense AGPAT5 5 83226 6.00774E-5 41613 0 3.1837E-5
8-6614743-A-G p.Lys310Arg missense AGPAT5 1 83234 1.20143E-5 41617 0 NA
8-6614745-A-C p.Ser311Arg missense AGPAT5 2 83242 2.40263E-5 41621 0 5.03525E-4
8-6614750-T-C p.Val312Val synonymous AGPAT5 4 83272 4.80354E-5 41636 0 NA
8-6614751-A-C p.Asn313His missense AGPAT5 1 83270 1.20091E-5 41635 0 7.95551E-6
8-6614755-C-A p.Ser314Tyr missense AGPAT5 1 83290 1.20062E-5 41645 0 NA
8-6614764-G-C p.Ser317Thr missense AGPAT5 1 83290 1.20062E-5 41645 0 8.24647E-6
8-6614766-A-G p.Ile318Val missense AGPAT5 3 83296 3.60161E-5 41648 0 6.3674E-5
8-6614772-A-G p.Lys320Glu missense AGPAT5 1 83300 1.20048E-5 41650 0 1.19315E-5
8-6614787-A-G p.Met325Val missense AGPAT5 2 83324 2.40027E-5 41662 0 7.41485E-5
8-6614789-G-A p.Met325Ile missense AGPAT5 1 83332 1.20002E-5 41666 0 3.97697E-6
8-6614795-C-T p.Ile327Ile synonymous AGPAT5 1 83340 1.1999E-5 41670 0 NA
8-6614800-G-C p.Ser329Thr missense AGPAT5 3 83344 3.59954E-5 41672 0 6.3678E-5
8-6614807-G-C p.Leu331Phe missense AGPAT5 1 83346 1.19982E-5 41673 0 NA
8-6614827-C-A p.Thr338Asn missense AGPAT5 1 83362 1.19959E-5 41681 0 NA
8-6614828-C-T p.Thr338Thr synonymous AGPAT5 2 83362 2.39917E-5 41681 0 6.36862E-5
8-6614829-G-A p.Asp339Asn missense AGPAT5 4 83360 4.79846E-5 41680 0 0.00125
8-6614846-G-C p.Leu344Leu synonymous AGPAT5 19 83350 2.27954E-4 41675 0 7.64039E-4
8-6614853-A-T p.Asn347Tyr missense AGPAT5 1 83344 1.19985E-5 41672 0 NA
8-6614866-A-G p.Tyr351Cys missense AGPAT5 1 83332 1.20002E-5 41666 0 8.23723E-6
8-6614877-C-T p.Leu355Phe missense AGPAT5 1 83316 1.20025E-5 41658 0 1.64769E-5
8-6614878-T-C p.Leu355Pro missense AGPAT5 1 83308 1.20036E-5 41654 0 NA
8-6614888-G-A p.Leu358Leu synonymous AGPAT5 2 83280 2.40154E-5 41640 0 NA
8-6614894-T-A p.Val360Val synonymous AGPAT5 1 83264 1.201E-5 41632 0 NA
8-6614895-A-G p.Thr361Ala missense AGPAT5 1 83262 1.20103E-5 41631 0 2.7845E-5
8-6614904-G-A p.Ala364Thr missense AGPAT5 2 83228 2.40304E-5 41614 0 2.47447E-5
8-6615024-T-C n.486T>C splice_region AGPAT5 1 76456 1.30794E-5 38228 0 NA
8-6615214-G-C c.*305G>C splice_region AGPAT5 1 45242 2.21034E-5 22621 0 NA
8-6616405-C-G c.*2254C>G splice_region AGPAT5 1 44698 2.23724E-5 22349 0 NA
8-6616406-A-C c.*2255A>C splice_region AGPAT5 1 44698 2.23724E-5 22349 0 NA
8-6617183-C-T c.*2274C>T splice_region AGPAT5 1 2988 3.34672E-4 1494 0 9.5645E-5