Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-11249411-C-T c.-226C>T 5_prime_UTR_premature_start_codon_gain ANGPTL7 3 35328 8.49185E-5 17664 0 3.18532E-5
1-11249422-G-T c.-215G>T 5_prime_UTR_premature_start_codon_gain ANGPTL7 1 40418 2.47415E-5 20209 0 6.36983E-5
1-11249515-G-C c.-122G>C 5_prime_UTR_premature_start_codon_gain ANGPTL7 2 75854 2.63664E-5 37927 0 9.55414E-5
1-11249567-T-C c.-70T>C 5_prime_UTR_premature_start_codon_gain ANGPTL7 7 80252 8.72252E-5 40126 0 0.00184831
1-11249578-A-T c.-59A>T 5_prime_UTR_premature_start_codon_gain ANGPTL7 66 80608 8.18777E-4 40304 0 0.00184725
1-11249640-C-G p.Leu2Val missense ANGPTL7 2 81518 2.45345E-5 40759 0 9.5584E-5
1-11249650-C-T p.Pro5Leu missense ANGPTL7 1 81802 1.22246E-5 40901 0 NA
1-11249651-T-C p.Pro5Pro synonymous ANGPTL7 4 81838 4.8877E-5 40919 0 9.55901E-5
1-11249685-G-A p.Val17Met missense ANGPTL7 2 82720 2.41779E-5 41360 0 6.37146E-5
1-11249703-C-G p.Pro23Ala missense ANGPTL7 2 82932 2.41161E-5 41466 0 1.59283E-5
1-11249705-A-T p.Pro23Pro synonymous ANGPTL7 1 82970 1.20525E-5 41485 0 NA
1-11249706-G-A p.Ala24Thr missense ANGPTL7 3 82976 3.6155E-5 41488 0 6.37186E-5
1-11249708-G-A p.Ala24Ala synonymous ANGPTL7 1 83004 1.20476E-5 41502 0 1.65322E-5
1-11249724-T-A p.Ser30Thr missense ANGPTL7 7 83084 8.42521E-5 41542 0 1.59307E-4
1-11249729-G-C p.Lys31Asn missense ANGPTL7 3 83086 3.61072E-5 41543 0 4.12228E-5
1-11249745-C-T p.Gln37* stop_gained ANGPTL7 2 83116 2.40628E-5 41558 0 8.2447E-6
1-11249751-C-T p.Gln39* stop_gained ANGPTL7 3 83114 3.6095E-5 41557 0 NA
1-11249761-C-T p.Ala42Val missense ANGPTL7 1 83102 1.20334E-5 41551 0 6.25E-4
1-11249762-G-A p.Ala42Ala synonymous ANGPTL7 1 83114 1.20317E-5 41557 0 6.37024E-5
1-11249767-A-G p.Asn44Ser missense ANGPTL7 1 83140 1.20279E-5 41570 0 NA
1-11249781-G-A p.Val49Met missense ANGPTL7 1 83150 1.20265E-5 41575 0 NA
1-11249789-G-C p.Glu51Asp missense ANGPTL7 1569 83118 0.0188768 41559 45 0.0260257
1-11249789-G-A p.Glu51Glu synonymous ANGPTL7 1 83130 1.20294E-5 41565 0 3.98318E-6
1-11249792-C-T p.Leu52Leu synonymous ANGPTL7 1 83140 1.20279E-5 41570 0 3.98267E-6
1-11249803-T-C p.Val56Ala missense ANGPTL7 15 83148 1.80401E-4 41574 0 1.35417E-4
1-11249819-C-T p.Ser61Ser synonymous ANGPTL7 3 83144 3.6082E-5 41572 0 8.26583E-6
1-11249835-A-G p.Asn67Asp missense ANGPTL7 1 83124 1.20302E-5 41562 0 1.65221E-5
1-11249840-G-C p.Lys68Asn missense ANGPTL7 1 83118 1.20311E-5 41559 0 NA
1-11249858-G-C p.Trp74Cys missense ANGPTL7 2 83108 2.40651E-5 41554 0 3.58594E-5
1-11249862-A-G p.Ser76Gly missense ANGPTL7 1 83090 1.20351E-5 41545 0 NA
1-11249864-C-A p.Ser76Arg missense ANGPTL7 1 83082 1.20363E-5 41541 0 NA
1-11249865-G-A p.Val77Met missense ANGPTL7 1 83088 1.20354E-5 41544 0 1.65098E-5
1-11249893-G-C p.Ser86Thr missense ANGPTL7 3 82996 3.61463E-5 41498 0 NA
1-11249897-C-G p.Asn87Lys missense ANGPTL7 1 82996 1.20488E-5 41498 0 6.25E-4
1-11249902-A-T p.Lys89Met missense ANGPTL7 17 82962 2.04913E-4 41481 0 5.70703E-4
1-11249904-C-T p.Arg90Cys missense ANGPTL7 4 82932 4.82323E-5 41466 0 3.18573E-5
1-11249905-G-A p.Arg90His missense ANGPTL7 5 82920 6.02991E-5 41460 0 3.18532E-5
1-11249911-A-C p.Glu92Ala missense ANGPTL7 1 82882 1.20653E-5 41441 0 NA
1-11249914-C-T p.Ser93Leu missense ANGPTL7 2 82856 2.41383E-5 41428 0 7.99386E-6
1-11249916-C-T p.Arg94Trp missense ANGPTL7 7 82832 8.45084E-5 41416 0 6.37105E-5
1-11249917-G-A p.Arg94Gln missense ANGPTL7 1 82802 1.2077E-5 41401 0 3.99878E-6
1-11249919-C-T p.Leu95Phe missense ANGPTL7 1 82804 1.20767E-5 41402 0 NA
1-11249935-G-T p.Ser100Ile missense ANGPTL7 7 82692 8.46515E-5 41346 0 1.27372E-4
1-11249940-T-A p.Tyr102Asn missense ANGPTL7 5 82612 6.05239E-5 41306 0 6.25E-4
1-11249942-C-G p.Tyr102* stop_gained ANGPTL7 1 82564 1.21118E-5 41282 0 4.01323E-6
1-11249945-C-T p.Ser103Ser synonymous ANGPTL7 4 82506 4.84813E-5 41253 0 1.9018E-4
1-11249947-A-G p.Glu104Gly missense ANGPTL7 2 82468 2.42518E-5 41234 0 NA
1-11249957-C-T p.Asn107Asn synonymous ANGPTL7 1 82280 1.21536E-5 41140 0 3.18492E-5
1-11249977-T-G p.Leu114Arg missense ANGPTL7 1 81740 1.22339E-5 40870 0 NA
1-11249979-C-T p.Gln115* stop_gained ANGPTL7 6 81626 7.3506E-5 40813 0 3.37479E-5
1-11249980-A-G p.Gln115Arg missense ANGPTL7 15 81644 1.83724E-4 40822 0 0.0020202
1-11249984-A-T p.Ala116Ala synonymous ANGPTL7 4 81528 4.90629E-5 40764 0 NA
1-11249992-C-T p.Thr119Met missense ANGPTL7 10 81248 1.2308E-4 40624 0 5.09652E-4
1-11249994-GTCAC-G p.Thr121fs frameshift ANGPTL7 1 81082 1.23332E-5 40541 0 NA
1-11249997-A-T p.Thr121Ser missense ANGPTL7 3 80898 3.70837E-5 40449 0 4.08888E-6
1-11250005-C-T p.Thr123Thr synonymous ANGPTL7 4 80590 4.96339E-5 40295 0 4.14291E-6
1-11250009-G-A p.Ala125Thr missense ANGPTL7 1 80298 1.24536E-5 40149 0 2.61885E-5
1-11252324-T-C c.377-3T>C splice_region ANGPTL7 396 82832 0.00478076 41416 1 0.005625
1-11252337-C-T p.Tyr129Tyr synonymous ANGPTL7 2 82960 2.4108E-5 41480 0 6.59924E-5
1-11252338-G-A p.Asp130Asn missense ANGPTL7 1 82968 1.20528E-5 41484 0 3.18695E-5
1-11252339-A-ACTG p.Cys131dup disruptive_inframe_insertion ANGPTL7 4 82986 4.82009E-5 41493 0 3.97959E-6
1-11252350-C-G p.Leu134Val missense ANGPTL7 1 83048 1.20412E-5 41524 0 9.55414E-5
1-11252355-C-T p.Tyr135Tyr synonymous ANGPTL7 1 83068 1.20383E-5 41534 0 9.54889E-5
1-11252356-C-A p.Gln136Lys missense ANGPTL7 1 83068 1.20383E-5 41534 0 NA
1-11252357-A-G p.Gln136Arg missense ANGPTL7 29 83080 3.49061E-4 41540 0 2.86697E-4
1-11252361-GA-CT p.LysAsn137AsnTyr missense ANGPTL7 1 83078 1.20369E-5 41539 0 NA
1-11252365-T-C p.Tyr139His missense ANGPTL7 1 83060 1.20395E-5 41530 0 1.64794E-5
1-11252368-C-T p.Arg140Cys missense ANGPTL7 17 83056 2.04681E-4 41528 0 0.0025
1-11252369-G-A p.Arg140His missense ANGPTL7 115 83028 0.00138507 41514 0 0.003125
1-11252375-CTG-C p.Gly143fs frameshift ANGPTL7 1 83068 1.20383E-5 41534 0 2.47166E-5
1-11252398-G-C p.Asp150His missense ANGPTL7 11 82980 1.32562E-4 41490 0 3.97931E-6
1-11252402-A-C p.Asp151Ala missense ANGPTL7 1 82968 1.20528E-5 41484 0 4.11963E-5
1-11252404-T-G p.Phe152Val missense ANGPTL7 2 82956 2.41092E-5 41478 0 4.1197E-5
1-11252404-T-C p.Phe152Leu missense ANGPTL7 2 82956 2.41092E-5 41478 0 3.18471E-5
1-11252409-G-A p.Leu153Leu synonymous ANGPTL7 1 82896 1.20633E-5 41448 0 NA
1-11252413-A-G p.Ser155Gly missense ANGPTL7 1 82874 1.20665E-5 41437 0 NA
1-11253634-CA-C c.478-2delA splice_acceptor ANGPTL7 1 82992 1.20494E-5 41496 0 NA
1-11253636-G-T c.478-1G>T splice_acceptor ANGPTL7 1 83026 1.20444E-5 41513 0 NA
1-11253637-G-A p.Val160Met missense+splice_region ANGPTL7 3 83020 3.61359E-5 41510 0 8.92881E-6
1-11253645-T-C p.Cys162Cys synonymous ANGPTL7 450 83050 0.00541842 41525 6 0.0103563
1-11253648-C-T p.Asp163Asp synonymous ANGPTL7 1 83098 1.2034E-5 41549 0 4.27851E-6
1-11253652-G-A p.Glu165Lys missense ANGPTL7 1 83104 1.20331E-5 41552 0 NA
1-11253657-T-A p.Thr166Thr synonymous ANGPTL7 1 83126 1.20299E-5 41563 0 1.25471E-5
1-11253657-T-C p.Thr166Thr synonymous ANGPTL7 5 83126 6.01497E-5 41563 0 8.3647E-6
1-11253663-C-T p.Gly168Gly synonymous ANGPTL7 2 83124 2.40604E-5 41562 0 1.2738E-4
1-11253663-C-A p.Gly168Gly synonymous ANGPTL7 3 83124 3.60907E-5 41562 0 2.89302E-5
1-11253664-G-A p.Gly169Arg missense ANGPTL7 1 83130 1.20294E-5 41565 0 4.40366E-5
1-11253672-G-A p.Trp171* stop_gained ANGPTL7 2 83156 2.40512E-5 41578 0 NA
1-11253680-T-C p.Ile174Thr missense ANGPTL7 1 83174 1.2023E-5 41587 0 NA
1-11253684-G-T p.Gln175His missense ANGPTL7 252 83180 0.00302957 41590 1 0.00373682
1-11253686-G-A p.Arg176Lys missense ANGPTL7 1 83188 1.2021E-5 41594 0 8.50803E-6
1-11253687-A-T p.Arg176Ser missense ANGPTL7 1 83182 1.20218E-5 41591 0 3.18451E-5
1-11253688-C-T p.Arg177* stop_gained ANGPTL7 11 83172 1.32256E-4 41586 0 5.03525E-4
1-11253716-G-A p.Arg186Gln missense ANGPTL7 5 83232 6.0073E-5 41616 0 6.25E-4
1-11253721-T-G p.Trp188Gly missense ANGPTL7 3 83224 3.60473E-5 41612 0 3.18492E-5
1-11253722-G-A p.Trp188* stop_gained ANGPTL7 39 83228 4.68592E-4 41614 0 8.91833E-4
1-11253733-A-C p.Lys192Gln missense ANGPTL7 5 83226 6.00774E-5 41613 0 5.03525E-4
1-11253734-A-G p.Lys192Arg missense ANGPTL7 1 83222 1.20161E-5 41611 0 NA
1-11253739-G-C p.Gly194Arg missense ANGPTL7 1 83216 1.20169E-5 41608 0 NA
1-11253740-G-T p.Gly194Val missense ANGPTL7 1 83220 1.20163E-5 41610 0 NA
1-11253754-C-A p.Arg199Ser missense ANGPTL7 3 83198 3.60586E-5 41599 0 NA
1-11253754-C-G p.Arg199Gly missense ANGPTL7 1 83198 1.20195E-5 41599 0 3.97931E-6
1-11253754-C-T p.Arg199Cys missense ANGPTL7 1 83198 1.20195E-5 41599 0 6.37389E-5
1-11253755-G-A p.Arg199His missense ANGPTL7 1 83200 1.20192E-5 41600 0 1.19377E-5
1-11253773-G-A p.Gly205Glu missense ANGPTL7 4 83056 4.81603E-5 41528 0 3.30017E-5
1-11253777-C-T p.Asn206Asn synonymous ANGPTL7 6 82984 7.23031E-5 41492 0 3.18715E-5
1-11253778-G-A p.Glu207Lys missense ANGPTL7 7 82946 8.43923E-5 41473 0 0.0015121
1-11253781-C-G p.His208Asp missense ANGPTL7 4 82918 4.82404E-5 41459 0 2.47635E-5
1-11253788-A-G p.His210Arg missense ANGPTL7 1 82782 1.20799E-5 41391 0 2.47897E-5
1-11253791-G-A p.Arg211Gln missense ANGPTL7 5 82664 6.04858E-5 41332 0 1.59429E-4
1-11253791-G-C p.Arg211Pro missense ANGPTL7 3 82664 3.62915E-5 41332 0 NA
1-11253802-C-G p.Gln215Glu missense ANGPTL7 2 82460 2.42542E-5 41230 0 2.39469E-5
1-11253808-A-G p.Thr217Ala missense ANGPTL7 1 82402 1.21356E-5 41201 0 NA
1-11253812-G-A p.Arg218Gln missense ANGPTL7 7 82324 8.50299E-5 41162 0 3.59236E-5
1-11253817-C-T p.Arg220Cys missense ANGPTL7 5 82248 6.07918E-5 41124 0 0.00758493
1-11253818-G-A p.Arg220His missense ANGPTL7 4 82228 4.86452E-5 41114 0 4.79429E-5
1-11253819-T-A p.Arg220Arg synonymous ANGPTL7 2 82222 2.43244E-5 41111 0 1.66622E-5
1-11253831-G-A p.Glu224Glu splice_region+synonymous ANGPTL7 4 81966 4.88007E-5 40983 0 4.40469E-5
1-11254532-C-A p.Asn229Lys missense ANGPTL7 1 83194 1.20201E-5 41597 0 3.97852E-6
1-11254536-C-T p.Arg231Cys missense ANGPTL7 4 83206 4.80735E-5 41603 0 5.17145E-5
1-11254538-C-T p.Arg231Arg synonymous ANGPTL7 2 83236 2.40281E-5 41618 0 1.19328E-5
1-11254541-C-T p.Tyr232Tyr synonymous ANGPTL7 1 83248 1.20123E-5 41624 0 6.25E-4
1-11254545-G-T p.Glu234* stop_gained ANGPTL7 1 83276 1.20083E-5 41638 0 NA
1-11254553-C-T p.Ser236Ser synonymous ANGPTL7 1 83316 1.20025E-5 41658 0 NA
1-11254565-G-A p.Leu240Leu synonymous ANGPTL7 6 83318 7.20133E-5 41659 0 4.11841E-4
1-11254569-A-G p.Asn242Asp missense ANGPTL7 1 83316 1.20025E-5 41658 0 3.97684E-6
1-11254572-G-C p.Glu243Gln missense ANGPTL7 1 83322 1.20016E-5 41661 0 NA
1-11254583-C-T n.149C>T splice_region ANGPTL7 2 83332 2.40004E-5 41666 0 8.23669E-6
1-11254587-C-T p.Arg248Cys missense ANGPTL7 2 83342 2.39975E-5 41671 0 9.55657E-5
1-11254588-G-A p.Arg248His missense ANGPTL7 3 83338 3.5998E-5 41669 0 3.97678E-6
1-11254597-TG-T p.Asn253fs frameshift ANGPTL7 2 83346 2.39964E-5 41673 0 NA
1-11254597-T-C p.Leu251Pro missense ANGPTL7 3 83346 3.59945E-5 41673 0 1.193E-5
1-11254608-A-G p.Thr255Ala missense ANGPTL7 1 83340 1.1999E-5 41670 0 NA
1-11254610-T-C p.Thr255Thr synonymous ANGPTL7 1 83338 1.19993E-5 41669 0 4.11828E-5
1-11254616-T-C p.Asn257Asn synonymous ANGPTL7 2 83326 2.40021E-5 41663 0 6.37146E-5
1-11254619-G-A p.Val258Val synonymous ANGPTL7 2 83334 2.39998E-5 41667 0 NA
1-11254625-C-T p.Asn260Asn synonymous ANGPTL7 3 83314 3.60084E-5 41657 0 3.18471E-5
1-11254626-G-A p.Asp261Asn missense ANGPTL7 2 83302 2.4009E-5 41651 0 1.19324E-5
1-11254628-C-T p.Asp261Asp synonymous ANGPTL7 1 83306 1.20039E-5 41653 0 5.56837E-5
1-11254628-C-A p.Asp261Glu missense ANGPTL7 1 83306 1.20039E-5 41653 0 NA
1-11254629-G-A p.Ala262Thr missense ANGPTL7 2 83294 2.40113E-5 41647 0 2.47113E-5
1-11254629-G-C p.Ala262Pro missense ANGPTL7 1 83294 1.20057E-5 41647 0 NA
1-11254631-C-A p.Ala262Ala synonymous ANGPTL7 1 83306 1.20039E-5 41653 0 NA
1-11254635-C-T p.Gln264* stop_gained ANGPTL7 1 83310 1.20034E-5 41655 0 7.95494E-6
1-11254643-T-A p.His266Gln missense ANGPTL7 1 83286 1.20068E-5 41643 0 2.47109E-5
1-11254643-TAAC-T p.Asn268del disruptive_inframe_deletion ANGPTL7 3 83286 3.60205E-5 41643 0 7.95539E-6
1-11254648-A-C p.Asn268Thr missense ANGPTL7 1 83262 1.20103E-5 41631 0 NA
1-11254653-G-GAGGGGTACATCCACA p.Ala270delinsGluGlyTyrIleHisThr disruptive_inframe_insertion ANGPTL7 1 83218 1.20166E-5 41609 0 NA
1-11254654-C-T p.Ala270Val missense ANGPTL7 1 83208 1.20181E-5 41604 0 NA
1-11254660-G-C p.Ser272Thr missense ANGPTL7 2 83174 2.4046E-5 41587 0 NA
1-11254673-G-T p.Lys276Asn missense ANGPTL7 1 83152 1.20262E-5 41576 0 NA
1-11254674-G-A p.Asp277Asn missense ANGPTL7 1 83136 1.20285E-5 41568 0 NA
1-11254704-C-T p.Gln287* stop_gained ANGPTL7 2 83086 2.40714E-5 41543 0 NA
1-11254714-A-G p.Lys290Arg missense+splice_region ANGPTL7 2 83064 2.40778E-5 41532 0 NA
1-11254717-G-A c.871+1G>A splice_donor ANGPTL7 2 83042 2.40842E-5 41521 0 8.24362E-6
1-11254722-A-G c.871+6A>G splice_region ANGPTL7 53 83004 6.38523E-4 41502 1 7.32671E-4
1-11254910-G-C c.872-1G>C splice_acceptor ANGPTL7 2 83216 2.40338E-5 41608 0 8.28473E-6
1-11254911-G-GT p.Gly292fs frameshift ANGPTL7 1 83216 1.20169E-5 41608 0 NA
1-11254924-C-A p.Tyr295* stop_gained ANGPTL7 1 83230 1.20149E-5 41615 0 3.98854E-6
1-11254933-C-T p.Cys298Cys synonymous ANGPTL7 3 83250 3.6036E-5 41625 0 3.18471E-5
1-11254935-C-A p.Thr299Lys missense ANGPTL7 1 83260 1.20106E-5 41630 0 2.47455E-5
1-11254945-C-A p.Asn302Lys missense ANGPTL7 5 83264 6.005E-5 41632 0 4.12228E-5
1-11254945-C-T p.Asn302Asn synonymous ANGPTL7 3 83264 3.603E-5 41632 0 2.47337E-5
1-11254950-A-G p.Asn304Ser missense ANGPTL7 2 83288 2.40131E-5 41644 0 3.18674E-5
1-11254957-G-A p.Val306Val synonymous ANGPTL7 1 83302 1.20045E-5 41651 0 7.95855E-6
1-11254964-C-T p.Arg309Cys missense ANGPTL7 6 83312 7.20184E-5 41656 0 3.18532E-5
1-11254965-G-A p.Arg309His missense ANGPTL7 2 83310 2.40067E-5 41655 0 6.37227E-5
1-11254969-G-A p.Leu310Leu synonymous ANGPTL7 1 83316 1.20025E-5 41658 0 5.96806E-5
1-11254973-G-A p.Glu312Lys missense ANGPTL7 2 83316 2.4005E-5 41658 0 NA
1-11254981-T-C p.Asn314Asn synonymous ANGPTL7 1 83314 1.20028E-5 41657 0 8.24185E-6
1-11254991-G-A p.Asp318Asn missense ANGPTL7 1 83324 1.20013E-5 41662 0 NA
1-11254998-T-A p.Ile320Asn missense ANGPTL7 1 83314 1.20028E-5 41657 0 NA
1-11255004-G-A p.Trp322* stop_gained ANGPTL7 1 83318 1.20022E-5 41659 0 NA
1-11255008-T-C p.Tyr323Tyr synonymous ANGPTL7 4063 83260 0.0487989 41630 138 0.0655242
1-11255017-T-C p.His326His synonymous ANGPTL7 1 83298 1.20051E-5 41649 0 NA
1-11255026-C-T p.Thr329Thr synonymous ANGPTL7 23 83288 2.7615E-4 41644 0 0.0015121
1-11255027-T-C p.Tyr330His missense ANGPTL7 2 83278 2.40159E-5 41639 0 NA
1-11255039-C-T p.Arg334Trp missense ANGPTL7 12 83248 1.44148E-4 41624 0 0.00100705
1-11255040-G-A p.Arg334Gln missense ANGPTL7 8 83238 9.611E-5 41619 0 5.81E-5
1-11255044-G-C p.Val335Val synonymous ANGPTL7 11 83218 1.32183E-4 41609 0 0.0020141
1-11255051-A-G p.Lys338Glu missense ANGPTL7 1 83192 1.20204E-5 41596 0 NA
1-11255057-C-T p.Arg340Cys missense ANGPTL7 1 83142 1.20276E-5 41571 0 1.19537E-5
1-11255058-G-A p.Arg340His missense ANGPTL7 5 83128 6.01482E-5 41564 0 6.25E-4
1-11255073-A-G p.Lys345Arg missense ANGPTL7 12 83034 1.44519E-4 41517 0 1.27348E-4