Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-853608-T-C p.Ile503Val missense ANGPT4 3 83244 3.60386E-5 41622 0 3.98438E-6
20-853640-C-T p.Arg492His missense ANGPT4 2 83272 2.40177E-5 41636 0 3.29533E-5
20-853644-G-A p.Leu491Leu synonymous ANGPT4 2 83274 2.40171E-5 41637 0 NA
20-853645-T-C p.Ser490Ser synonymous ANGPT4 2 83270 2.40183E-5 41635 0 NA
20-853652-C-T p.Ser488Asn missense ANGPT4 2 83274 2.40171E-5 41637 0 NA
20-853667-T-C p.Tyr483Cys missense ANGPT4 1 83264 1.201E-5 41632 0 8.23845E-6
20-853669-G-C p.His482Gln missense ANGPT4 1 83270 1.20091E-5 41635 0 NA
20-853676-C-A p.Arg480Leu missense ANGPT4 2 83238 2.40275E-5 41619 0 3.97804E-6
20-853677-G-A p.Arg480Cys missense ANGPT4 2 83236 2.40281E-5 41618 0 3.97798E-6
20-853684-G-A p.Asp477Asp synonymous ANGPT4 2 83180 2.40442E-5 41590 0 3.18756E-5
20-853688-A-C p.Met476Arg missense ANGPT4 2 83158 2.40506E-5 41579 0 NA
20-853689-T-C p.Met476Val missense ANGPT4 1 83156 1.20256E-5 41578 0 8.23927E-6
20-853696-CTTG-C p.Asn472del disruptive_inframe_deletion ANGPT4 2 83114 2.40633E-5 41557 0 8.24063E-6
20-853704-C-T p.Asp471Asn missense ANGPT4 1 83036 1.2043E-5 41518 0 2.38751E-5
20-853705-G-T p.Pro470Pro synonymous ANGPT4 1 83048 1.20412E-5 41524 0 NA
20-853705-G-A p.Pro470Pro synonymous ANGPT4 4 83048 4.81649E-5 41524 0 6.37918E-5
20-853710-C-G p.Ala469Pro missense ANGPT4 3 82960 3.6162E-5 41480 0 NA
20-853711-G-A p.His468His synonymous ANGPT4 6 82978 7.23083E-5 41489 0 9.56084E-5
20-853713-G-A p.His468Tyr missense ANGPT4 1 82954 1.20549E-5 41477 0 NA
20-853714-G-A p.Tyr467Tyr synonymous ANGPT4 37 82938 4.46116E-4 41469 0 1.91278E-4
20-853717-G-A p.Tyr466Tyr synonymous ANGPT4 1 82908 1.20616E-5 41454 0 NA
20-853722-C-T p.Val465Ile missense ANGPT4 1 82824 1.20738E-5 41412 0 8.36287E-5
20-853723-G-A p.Gly464Gly synonymous ANGPT4 1 82800 1.20773E-5 41400 0 9.56206E-5
20-853724-C-T p.Gly464Asp missense ANGPT4 1 82778 1.20805E-5 41389 0 0.00100705
20-853725-C-T p.Gly464Ser missense ANGPT4 1 82742 1.20858E-5 41371 0 1.19513E-5
20-853726-G-T p.Asn463Lys missense ANGPT4 3 82744 3.62564E-5 41372 0 8.26665E-6
20-853726-G-A p.Asn463Asn synonymous ANGPT4 2 82744 2.41709E-5 41372 0 3.18776E-5
20-853750-G-A p.Asp455Asp synonymous ANGPT4 2 82254 2.43149E-5 41127 0 0.00151057
20-853759-C-T p.Trp452* stop_gained ANGPT4 1 82050 1.21877E-5 41025 0 NA
20-853764-C-G c.1352-1G>C splice_acceptor ANGPT4 1 82004 1.21945E-5 41002 0 NA
20-854940-T-C p.Gln446Gln synonymous ANGPT4 32339 82284 0.393017 41142 6559 0.492951
20-854962-T-C p.His439Arg missense ANGPT4 18 83016 2.16826E-4 41508 0 7.00771E-4
20-854967-G-A p.Asn437Asn synonymous ANGPT4 2 83024 2.40894E-5 41512 0 2.3865E-5
20-854973-T-G p.Ser435Ser synonymous ANGPT4 1170 82986 0.0140988 41493 20 0.0347432
20-854976-G-C p.Asp434Glu missense ANGPT4 1 83022 1.2045E-5 41511 0 NA
20-854983-G-T p.Thr432Asn missense ANGPT4 1 82998 1.20485E-5 41499 0 1.64826E-5
20-855002-G-A p.Gln426* stop_gained ANGPT4 2 82960 2.4108E-5 41480 1 5.03525E-4
20-855015-GC-AA p.Ser421Ile missense ANGPT4 4 82892 4.82556E-5 41446 0 NA
20-855016-C-T p.Ser421Asn missense ANGPT4 1 82884 1.20651E-5 41442 0 3.18532E-5
20-855022-C-T p.Arg419His missense ANGPT4 4 82824 4.82952E-5 41412 1 5.03525E-4
20-855023-G-T p.Arg419Ser missense ANGPT4 1 82806 1.20764E-5 41403 0 3.97966E-6
20-855023-G-A p.Arg419Cys missense ANGPT4 5 82806 6.03821E-5 41403 0 3.18613E-5
20-855029-C-A p.Ala417Ser missense ANGPT4 1 82778 1.20805E-5 41389 0 NA
20-855036-G-T p.Ser414Arg missense ANGPT4 19 82694 2.29763E-4 41347 0 6.37186E-4
20-855041-A-G p.Tyr413His missense ANGPT4 1 82612 1.21048E-5 41306 0 NA
20-855045-G-A p.Val411Val synonymous ANGPT4 5 82560 6.0562E-5 41280 0 6.25E-4
20-855050-C-T p.Val410Met missense ANGPT4 1 82496 1.21218E-5 41248 0 3.98305E-6
20-855056-G-T p.Leu408Ile missense+splice_region ANGPT4 1 82396 1.21365E-5 41198 0 NA
20-858799-C-T c.1220+5G>A splice_region ANGPT4 3 81820 3.66659E-5 40910 0 NA
20-858800-C-T c.1220+4G>A splice_region ANGPT4 1 81898 1.22103E-5 40949 0 NA
20-858808-A-G p.Tyr406His missense ANGPT4 1 82212 1.21637E-5 41106 0 2.59175E-5
20-858809-T-C p.Leu405Leu synonymous ANGPT4 1 82236 1.21601E-5 41118 0 1.81166E-4
20-858826-C-T p.Gly400Ser missense ANGPT4 4 82546 4.84578E-5 41273 0 0.00100705
20-858841-C-T p.Glu395Lys missense ANGPT4 1079 82578 0.0130664 41289 16 0.0347432
20-858842-G-A p.Tyr394Tyr synonymous ANGPT4 2 82630 2.42043E-5 41315 0 3.18471E-5
20-858847-G-A p.Gln393* stop_gained ANGPT4 15 82698 1.81383E-4 41349 0 5.83013E-5
20-858851-A-T p.Tyr391* stop_gained ANGPT4 1 82682 1.20945E-5 41341 0 3.98045E-6
20-858859-C-T p.Glu389Lys missense ANGPT4 2 82680 2.41896E-5 41340 0 3.18492E-5
20-858864-C-T p.Gly387Asp missense ANGPT4 1 82694 1.20928E-5 41347 0 NA
20-858878-C-T p.Leu382Leu synonymous ANGPT4 1 82624 1.2103E-5 41312 0 0.00100908
20-858888-C-T p.Arg379His missense ANGPT4 18 82564 2.18013E-4 41282 0 0.00100806
20-858890-C-T p.Leu378Leu synonymous ANGPT4 20 82526 2.42348E-4 41263 0 7.64283E-4
20-858901-CTGCCCTTCTGGTGAGCTGGTGCACCACTTCAT-C p.Asn364fs frameshift ANGPT4 2 82372 2.42801E-5 41186 0 0.00143303
20-858903-G-A p.Ala374Val missense ANGPT4 1 82310 1.21492E-5 41155 0 7.96457E-6
20-858915-A-T p.Leu370His missense ANGPT4 1 81966 1.22002E-5 40983 0 7.96749E-5
20-858920-G-A p.His368His synonymous ANGPT4 1 81810 1.22234E-5 40905 0 NA
20-858925-C-T p.Val367Met missense ANGPT4 1 81566 1.226E-5 40783 0 8.31656E-6
20-858926-C-T p.Val366Val synonymous ANGPT4 5 81518 6.13361E-5 40759 0 2.23058E-4
20-858928-C-A p.Val366Leu missense ANGPT4 1 81404 1.22844E-5 40702 0 NA
20-858941-C-A p.Trp361Cys missense ANGPT4 2 81032 2.46816E-5 40516 0 3.18492E-5
20-858950-C-T p.Gly358Gly synonymous ANGPT4 1 80574 1.2411E-5 40287 0 8.38153E-6
20-858952-C-G p.Gly358Arg missense ANGPT4 1 80470 1.2427E-5 40235 0 3.99033E-6
20-858963-C-G p.Gly354Ala missense ANGPT4 2 79592 2.51282E-5 39796 0 3.59712E-5
20-858964-C-T p.Gly354Arg missense ANGPT4 5 79392 6.29786E-5 39696 0 5.95198E-5
20-858965-G-A p.Phe353Phe synonymous ANGPT4 8 79288 1.00898E-4 39644 0 7.66401E-5
20-858970-C-G p.Gly352Arg missense+splice_region ANGPT4 2 78718 2.54071E-5 39359 0 1.7133E-5
20-858976-G-A c.1054-6C>T splice_region ANGPT4 2 78076 2.56161E-5 39038 0 6.42596E-5
20-860384-G-A c.1053+6C>T splice_region ANGPT4 6 81960 7.32064E-5 40980 0 4.80204E-5
20-860386-C-T c.1053+4G>A splice_region ANGPT4 2 82054 2.43742E-5 41027 0 3.18431E-5
20-860408-G-A p.Asn345Asn synonymous ANGPT4 31 82500 3.75758E-4 41250 0 8.27762E-4
20-860410-T-C p.Asn345Asp missense ANGPT4 3 82456 3.6383E-5 41228 0 1.65645E-5
20-860412-C-T p.Arg344Gln missense ANGPT4 1 82450 1.21286E-5 41225 0 4.14017E-5
20-860413-G-A p.Arg344Trp missense ANGPT4 1 82408 1.21347E-5 41204 0 1.65557E-5
20-860414-C-T p.Gln343Gln synonymous ANGPT4 2 82458 2.42548E-5 41229 0 8.27732E-6
20-860417-A-C p.Phe342Leu missense ANGPT4 2 82482 2.42477E-5 41241 0 NA
20-860424-ACG-GCA p.ThrVal339ThrAla missense ANGPT4 1 82428 1.21318E-5 41214 0 NA
20-860425-C-T p.Val340Met missense ANGPT4 1 82382 1.21386E-5 41191 0 2.79339E-5
20-860426-G-A p.Thr339Thr synonymous ANGPT4 7705 81914 0.0940621 40957 466 0.113568
20-860433-T-G p.Asn337Thr missense ANGPT4 1 82292 1.21518E-5 41146 0 NA
20-860439-C-T p.Arg335His missense ANGPT4 1 82162 1.21711E-5 41081 0 8.27157E-6
20-860439-C-G p.Arg335Pro missense ANGPT4 1 82162 1.21711E-5 41081 0 3.18431E-5
20-860441-G-A p.Arg334Arg synonymous ANGPT4 2 82062 2.43718E-5 41031 0 7.97194E-6
20-860442-C-T p.Arg334His missense ANGPT4 24 81992 2.92711E-4 40996 0 6.25E-4
20-860453-G-A p.Thr330Thr synonymous ANGPT4 723 81624 0.00885769 40812 18 0.0176411
20-860453-G-T p.Thr330Thr synonymous ANGPT4 1 81676 1.22435E-5 40838 0 3.18532E-5
20-860454-G-C p.Thr330Ser missense ANGPT4 1 81634 1.22498E-5 40817 0 1.99462E-5
20-860462-G-A p.Gly327Gly synonymous ANGPT4 1 81066 1.23356E-5 40533 0 3.99291E-6
20-860474-C-T p.Gln323Gln synonymous ANGPT4 1 80280 1.24564E-5 40140 0 NA
20-860499-G-A c.952-8C>T splice_region ANGPT4 1 76430 1.30839E-5 38215 0 NA
20-861809-C-T c.951+5G>A splice_region ANGPT4 1 83160 1.2025E-5 41580 0 NA
20-861813-C-A c.951+1G>T splice_donor ANGPT4 1 83194 1.20201E-5 41597 0 9.49523E-6
20-861816-TC-T p.Lys317fs frameshift ANGPT4 1 83210 1.20178E-5 41605 0 3.18613E-5
20-861821-G-A p.Pro315Leu missense ANGPT4 61 83244 7.32786E-4 41622 0 0.00133766
20-861823-C-T p.Lys314Lys synonymous ANGPT4 1 83252 1.20117E-5 41626 0 NA
20-861826-C-T p.Thr313Thr synonymous ANGPT4 2 83262 2.40206E-5 41631 0 4.31958E-6
20-861827-G-A p.Thr313Met missense ANGPT4 5 83262 6.00514E-5 41631 0 0.00125
20-861840-C-T p.Val309Met missense ANGPT4 4 83298 4.80204E-5 41649 0 8.81057E-6
20-861841-C-T p.Gln308Gln synonymous ANGPT4 1 83302 1.20045E-5 41651 0 9.55231E-5
20-861853-G-A p.Val304Val synonymous ANGPT4 2641 83210 0.031739 41605 230 0.0641687
20-861869-G-A p.Ala299Val missense ANGPT4 1 83314 1.20028E-5 41657 0 8.44438E-6
20-861874-A-G p.Ser297Ser synonymous ANGPT4 1 83318 1.20022E-5 41659 0 NA
20-861876-A-C p.Ser297Ala missense ANGPT4 5 83320 6.00096E-5 41660 0 8.37423E-6
20-861879-G-A p.Arg296Cys missense ANGPT4 1 83310 1.20034E-5 41655 0 NA
20-861886-C-G p.Glu293Asp missense ANGPT4 1 83304 1.20042E-5 41652 0 3.18471E-5
20-861893-C-T p.Cys291Tyr missense ANGPT4 1 83294 1.20057E-5 41647 0 3.31257E-5
20-861910-C-T p.Glu285Glu synonymous ANGPT4 1 83242 1.20132E-5 41621 0 8.27979E-6
20-861924-T-C p.Ile281Val missense ANGPT4 1 83236 1.2014E-5 41618 0 8.29889E-6
20-861933-C-T c.836-4G>A splice_region ANGPT4 1 83124 1.20302E-5 41562 0 3.9813E-6
20-861936-A-C c.836-7T>G splice_region ANGPT4 2 83102 2.40668E-5 41551 0 3.18431E-5
20-865716-C-G c.835+5G>C splice_region ANGPT4 2 80084 2.49738E-5 40042 0 3.18634E-5
20-865719-A-T c.835+2T>A splice_donor ANGPT4 1 80044 1.24931E-5 40022 0 4.06253E-6
20-865720-C-T c.835+1G>A splice_donor ANGPT4 1 80116 1.24819E-5 40058 0 NA
20-865721-C-G p.Ala279Pro missense+splice_region ANGPT4 4 80098 4.99388E-5 40049 0 3.18674E-5
20-865726-G-A p.Ala277Val missense ANGPT4 2 80064 2.498E-5 40032 0 8.10938E-6
20-865751-C-T p.Val269Met missense ANGPT4 2 80286 2.49109E-5 40143 0 7.29754E-5
20-865753-A-G p.Leu268Pro missense ANGPT4 1 80318 1.24505E-5 40159 0 3.18532E-5
20-865760-G-A p.Arg266Trp missense ANGPT4 1 80232 1.24639E-5 40116 0 NA
20-865764-C-A p.Leu264Phe missense ANGPT4 6 80376 7.46491E-5 40188 0 3.83612E-5
20-865766-A-C p.Leu264Val missense ANGPT4 1 80394 1.24387E-5 40197 0 7.70847E-5
20-865786-C-T p.Ser257Asn missense ANGPT4 2 80704 2.47819E-5 40352 0 NA
20-865805-G-A p.Leu251Leu synonymous ANGPT4 1 81112 1.23286E-5 40556 0 NA
20-865808-G-A p.Leu250Phe missense ANGPT4 1 81104 1.23298E-5 40552 0 NA
20-865818-G-A p.His246His synonymous ANGPT4 1 81114 1.23283E-5 40557 0 NA
20-865819-T-A p.His246Leu missense ANGPT4 1 81096 1.23311E-5 40548 0 5.06586E-4
20-865821-C-G p.Arg245Ser missense ANGPT4 1 81064 1.23359E-5 40532 0 5.36567E-5
20-865821-C-T p.Arg245Arg synonymous ANGPT4 1 81064 1.23359E-5 40532 0 6.36983E-5
20-865824-G-C p.Val244Val synonymous ANGPT4 1 81140 1.23244E-5 40570 0 NA
20-865830-G-T p.Arg242Arg synonymous ANGPT4 4 81110 4.93157E-5 40555 0 NA
20-865831-C-T p.Arg242His missense ANGPT4 1 81108 1.23292E-5 40554 0 1.45433E-5
20-865835-G-A p.Leu241Leu synonymous ANGPT4 2 81150 2.46457E-5 40575 0 8.87107E-6
20-865839-G-T p.Arg239Arg synonymous ANGPT4 1 81088 1.23323E-5 40544 0 NA
20-865850-T-A p.Asn236Tyr missense ANGPT4 1 81116 1.2328E-5 40558 0 NA
20-865852-G-A p.Thr235Ile missense ANGPT4 3 81104 3.69895E-5 40552 0 0.003125
20-865874-T-C p.Ser228Gly missense ANGPT4 1 80250 1.24611E-5 40125 0 1.01207E-5
20-865875-C-T p.Leu227Leu synonymous ANGPT4 1 80244 1.2462E-5 40122 0 2.14298E-5
20-865896-C-T p.Lys220Lys synonymous ANGPT4 688 78534 0.00876054 39267 8 0.0193483
20-865900-T-C p.Lys219Arg missense ANGPT4 1 78208 1.27864E-5 39104 0 NA
20-865901-T-TG p.Lys219fs frameshift ANGPT4 1 78048 1.28126E-5 39024 0 5.12468E-6
20-865908-G-C p.Ile216Met missense ANGPT4 1 77052 1.29782E-5 38526 0 9.74754E-5
20-865925-C-T p.Glu211Lys missense ANGPT4 1 73416 1.3621E-5 36708 0 9.55901E-5
20-865929-C-T p.Gln209Gln synonymous ANGPT4 4 72322 5.53082E-5 36161 0 5.10204E-4
20-865930-T-A p.Gln209Leu missense ANGPT4 2 72170 2.77123E-5 36085 0 NA
20-865944-GGC-TGT p.Ala204Thr missense ANGPT4 1 68566 1.45845E-5 34283 0 NA
20-865944-G-A p.Ala204Ala synonymous ANGPT4 1 68566 1.45845E-5 34283 0 NA
20-865962-G-A p.Leu198Leu synonymous ANGPT4 1 62244 1.60658E-5 31122 0 5.05285E-6
20-865963-A-C p.Leu198Arg missense ANGPT4 1 61858 1.61661E-5 30929 0 NA
20-865973-G-C c.588-5C>G splice_region ANGPT4 2 58278 3.43183E-5 29139 0 NA
20-865974-G-C c.588-6C>G splice_region ANGPT4 1 57922 1.72646E-5 28961 0 3.18552E-5
20-868961-C-A p.Ser196Ile missense+splice_region ANGPT4 1 82738 1.20863E-5 41369 0 4.01117E-6
20-868962-T-A p.Ser196Cys missense+splice_region ANGPT4 1 82758 1.20834E-5 41379 0 3.18573E-5
20-869024-T-C p.Asn175Ser missense ANGPT4 1 83212 1.20175E-5 41606 0 8.24457E-6
20-869025-T-C p.Asn175Asp missense ANGPT4 3 83212 3.60525E-5 41606 0 3.98118E-6
20-869026-G-C p.Thr174Thr synonymous ANGPT4 1 83208 1.20181E-5 41604 0 NA
20-869032-C-T p.Leu172Leu synonymous ANGPT4 1 83206 1.20184E-5 41603 0 NA
20-869033-A-C p.Leu172Arg missense ANGPT4 123 83208 0.00147822 41604 0 0.00248455
20-869038-G-A p.Thr170Thr synonymous ANGPT4 1 83210 1.20178E-5 41605 0 NA
20-869039-G-T p.Thr170Asn missense ANGPT4 1 83202 1.20189E-5 41601 0 NA
20-869046-G-A p.Pro168Ser missense ANGPT4 1 83186 1.20213E-5 41593 0 NA
20-869048-A-C p.Met167Arg missense ANGPT4 2 83190 2.40414E-5 41595 0 3.18872E-5
20-869059-C-T p.Met163Ile missense ANGPT4 3 83140 3.60837E-5 41570 0 8.26173E-6
20-869059-C-A p.Met163Ile missense ANGPT4 1 83140 1.20279E-5 41570 0 NA
20-870849-C-T c.465+7G>A splice_region ANGPT4 1 82096 1.21809E-5 41048 0 NA
20-870855-C-T c.465+1G>A splice_donor ANGPT4 2 82238 2.43197E-5 41119 0 NA
20-870867-T-C p.Met152Val missense ANGPT4 616 82396 0.00747609 41198 18 0.0153273
20-870871-G-A p.Thr150Thr synonymous ANGPT4 4 82450 4.85143E-5 41225 0 3.18613E-5
20-870871-G-T p.Thr150Thr synonymous ANGPT4 1 82450 1.21286E-5 41225 0 NA
20-870881-C-T p.Arg147His missense ANGPT4 219 82552 0.00265287 41276 1 0.00404536
20-870900-G-C p.Gln141Glu missense ANGPT4 2 82654 2.41973E-5 41327 0 1.64916E-5
20-870900-G-T p.Gln141Lys missense ANGPT4 2 82654 2.41973E-5 41327 0 9.15612E-5
20-870909-G-A p.Leu138Phe missense ANGPT4 2 82644 2.42002E-5 41322 0 NA
20-870915-T-C p.Thr136Ala missense ANGPT4 3 82630 3.63064E-5 41315 0 1.64924E-5
20-870921-G-A p.Leu134Leu synonymous ANGPT4 1 82634 1.21016E-5 41317 0 NA
20-870922-C-T p.Glu133Glu synonymous ANGPT4 1 82654 1.20986E-5 41327 0 NA
20-870926-A-G p.Leu132Pro missense ANGPT4 1 82630 1.21021E-5 41315 0 2.86935E-4
20-870927-G-A p.Leu132Leu synonymous ANGPT4 2 82644 2.42002E-5 41322 0 6.25E-4
20-870935-G-A p.Ala129Val missense ANGPT4 4 82646 4.83992E-5 41323 0 8.25164E-6
20-870937-C-T p.Thr128Thr synonymous ANGPT4 6 82602 7.26375E-5 41301 0 3.18796E-5
20-870938-G-A p.Thr128Met missense ANGPT4 2 82626 2.42055E-5 41313 0 1.991E-5
20-870962-T-C p.Gln120Arg missense ANGPT4 2 82534 2.42324E-5 41267 0 NA
20-870965-A-C p.Val119Gly missense ANGPT4 1 82502 1.21209E-5 41251 0 3.30841E-5
20-870970-C-T p.Glu117Glu synonymous ANGPT4 209 82452 0.00253481 41226 2 0.00602717
20-870972-C-T p.Glu117Lys missense ANGPT4 1 82462 1.21268E-5 41231 0 NA
20-870979-C-T p.Ser114Ser synonymous ANGPT4 2 82362 2.4283E-5 41181 0 1.19732E-5
20-870980-G-A p.Ser114Leu missense ANGPT4 3 82366 3.64228E-5 41183 0 3.99167E-6
20-870980-G-C p.Ser114Trp missense ANGPT4 1 82366 1.21409E-5 41183 0 9.57365E-5
20-870981-A-G p.Ser114Pro missense ANGPT4 2 82342 2.42889E-5 41171 0 NA
20-870987-A-G p.Leu112Leu synonymous ANGPT4 1 82288 1.21524E-5 41144 0 3.99549E-6
20-870988-G-T p.Ile111Ile synonymous ANGPT4 4 82302 4.86015E-5 41151 0 8.32861E-5
20-870989-A-G p.Ile111Thr missense ANGPT4 2 82274 2.4309E-5 41137 0 7.6746E-4
20-870991-C-T p.Thr110Thr synonymous ANGPT4 3 82194 3.6499E-5 41097 0 6.3857E-5
20-870992-G-A p.Thr110Met missense ANGPT4 3 82184 3.65035E-5 41092 0 4.7856E-4
20-871017-G-A c.310-6C>T splice_region ANGPT4 1 81614 1.22528E-5 40807 0 NA
20-896544-C-T c.309+5G>A splice_region ANGPT4 4 82430 4.8526E-5 41215 0 6.36902E-5
20-896545-G-A c.309+4C>T splice_region ANGPT4 336 82498 0.00407283 41249 6 0.0093973
20-896545-G-GT c.309+3_309+4insA splice_region ANGPT4 1 82518 1.21186E-5 41259 0 9.307E-6
20-896546-T-C c.309+3A>G splice_region ANGPT4 1 82580 1.21095E-5 41290 0 NA
20-896555-C-T p.Leu101Leu synonymous ANGPT4 2 82860 2.41371E-5 41430 0 NA
20-896558-C-A p.Trp100Cys missense ANGPT4 1 82920 1.20598E-5 41460 0 9.00658E-6
20-896560-A-C p.Trp100Gly missense ANGPT4 2 82952 2.41103E-5 41476 0 8.98586E-6
20-896561-C-G p.Gln99His missense ANGPT4 4 82954 4.82195E-5 41477 0 NA
20-896564-C-T p.Thr98Thr synonymous ANGPT4 5 82984 6.02526E-5 41492 0 6.3678E-5
20-896565-G-A p.Thr98Met missense ANGPT4 1 83012 1.20465E-5 41506 0 3.58147E-5
20-896567-G-A p.Asn97Asn synonymous ANGPT4 1 83028 1.20441E-5 41514 0 NA
20-896574-T-C p.Gln95Arg missense ANGPT4 626 83032 0.00753926 41516 12 0.0156668
20-896579-T-C p.Ala93Ala synonymous ANGPT4 3 83076 3.61115E-5 41538 0 2.05946E-5
20-896587-C-T p.Glu91Lys missense ANGPT4 1 83078 1.20369E-5 41539 0 8.74095E-6
20-896590-G-T p.Leu90Met missense ANGPT4 1 83100 1.20337E-5 41550 0 1.27364E-4
20-896593-G-A p.Gln89* stop_gained ANGPT4 1 83102 1.20334E-5 41551 0 NA
20-896608-T-C p.Thr84Ala missense ANGPT4 2 83084 2.4072E-5 41542 0 1.60452E-5
20-896612-C-T p.Leu82Leu synonymous ANGPT4 1 83072 1.20378E-5 41536 0 NA
20-896617-TC-T p.Lys81fs frameshift ANGPT4 1 83090 1.20351E-5 41545 0 NA
20-896630-TG-T p.Pro76fs frameshift ANGPT4 1 83070 1.2038E-5 41535 0 NA
20-896632-G-A p.Pro76Ser missense ANGPT4 1 83056 1.20401E-5 41528 0 NA
20-896658-G-A p.Thr67Ile missense ANGPT4 98 82936 0.00118163 41468 1 0.006875
20-896658-G-T p.Thr67Asn missense ANGPT4 2 82938 2.41144E-5 41469 0 3.9834E-6
20-896665-A-G p.Ser65Pro missense ANGPT4 1 82872 1.20668E-5 41436 0 NA
20-896672-G-A p.Ser62Ser synonymous ANGPT4 1 82800 1.20773E-5 41400 0 0.00125
20-896680-C-T p.Glu60Lys missense ANGPT4 2 82680 2.41896E-5 41340 0 7.96223E-6
20-896687-C-T p.Pro57Pro synonymous ANGPT4 3 82520 3.63548E-5 41260 0 6.25E-4
20-896688-G-A p.Pro57Leu missense ANGPT4 33 82536 3.99826E-4 41268 0 0.00100705
20-896693-G-A p.Cys55Cys synonymous ANGPT4 1 82422 1.21327E-5 41211 0 1.64775E-5
20-896696-G-A p.Pro54Pro synonymous ANGPT4 1 82390 1.21374E-5 41195 0 NA
20-896715-A-G p.Leu48Ser missense ANGPT4 53 82008 6.46278E-4 41004 0 0.00125
20-896722-T-C p.Thr46Ala missense ANGPT4 1 81822 1.22217E-5 40911 0 NA
20-896723-G-A p.Tyr45Tyr synonymous ANGPT4 1 81846 1.22181E-5 40923 0 1.59305E-5
20-896737-C-T p.Gly41Ser missense ANGPT4 1 81464 1.22754E-5 40732 0 3.29696E-5
20-896742-T-C p.Gln39Arg missense ANGPT4 1 81376 1.22886E-5 40688 0 1.99224E-5
20-896750-A-G p.Leu36Leu synonymous ANGPT4 1 81322 1.22968E-5 40661 0 NA
20-896753-T-G p.Thr35Thr synonymous ANGPT4 2405 81158 0.0296336 40579 51 0.0463243
20-896758-C-A p.Glu34* stop_gained ANGPT4 2 81088 2.46646E-5 40544 0 3.18695E-5
20-896759-G-A p.Cys33Cys synonymous ANGPT4 2 81002 2.46907E-5 40501 0 3.18634E-5
20-896771-C-T p.Ala29Ala synonymous ANGPT4 2 80932 2.47121E-5 40466 0 4.12609E-5
20-896772-G-A p.Ala29Val missense ANGPT4 1 80840 1.23701E-5 40420 0 7.17812E-5
20-896773-C-T p.Ala29Thr missense ANGPT4 1 80908 1.23597E-5 40454 0 1.15517E-4
20-896790-T-A p.Gln23Leu missense ANGPT4 20 81112 2.46573E-4 40556 0 7.21696E-4
20-896803-T-G p.Met19Leu missense ANGPT4 1 81176 1.23189E-5 40588 0 3.98804E-6
20-896813-C-T p.Val15Val synonymous ANGPT4 2 81128 2.46524E-5 40564 0 NA
20-896850-G-C p.Ser3Cys missense ANGPT4 1 80578 1.24103E-5 40289 0 NA
20-896852-G-A p.Leu2Leu synonymous ANGPT4 2 80516 2.48398E-5 40258 0 NA
20-896872-A-G c.-15T>C 5_prime_UTR_premature_start_codon_gain ANGPT4 3 79506 3.7733E-5 39753 0 1.9118E-4
20-896877-G-A c.-20C>T 5_prime_UTR_premature_start_codon_gain ANGPT4 1 78830 1.26855E-5 39415 0 3.18593E-5
20-896941-C-A c.-84G>T 5_prime_UTR_premature_start_codon_gain ANGPT4 1 67508 1.48131E-5 33754 0 NA