Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-63063208-C-T c.-30C>T 5_prime_UTR_premature_start_codon_gain ANGPTL3 2 82564 2.42236E-5 41282 0 8.60304E-5
1-63063254-T-C p.Leu6Pro missense ANGPTL3 1 82818 1.20747E-5 41409 0 8.44324E-6
1-63063272-C-T p.Pro12Leu missense ANGPTL3 2 82770 2.41633E-5 41385 0 4.00307E-6
1-63063278-T-C p.Val14Ala missense ANGPTL3 3 82750 3.62538E-5 41375 0 NA
1-63063285-C-T p.Ser16Ser synonymous ANGPTL3 2 82706 2.4182E-5 41353 0 NA
1-63063287-CC-GA p.Ser17* stop_gained ANGPTL3 8 82680 9.67586E-5 41340 0 NA
1-63063313-T-C p.Phe26Leu missense ANGPTL3 2 82512 2.42389E-5 41256 0 1.59266E-4
1-63063322-C-T p.Leu29Leu synonymous ANGPTL3 2 82454 2.42559E-5 41227 0 3.18532E-5
1-63063328-C-T p.Pro31Ser missense ANGPTL3 2 82452 2.42565E-5 41226 0 3.99616E-6
1-63063360-C-T p.Asp41Asp synonymous ANGPTL3 1 82444 1.21294E-5 41222 0 1.24467E-4
1-63063361-G-A p.Asp42Asn missense ANGPTL3 3 82448 3.63866E-5 41224 0 0.00100806
1-63063388-C-G p.Leu51Val missense ANGPTL3 1 82426 1.21321E-5 41213 0 NA
1-63063398-G-A p.Gly54Glu missense ANGPTL3 1 82402 1.21356E-5 41201 0 NA
1-63063401-A-G p.His55Arg missense ANGPTL3 1 82380 1.21389E-5 41190 0 NA
1-63063420-C-T p.Val61Val synonymous ANGPTL3 1 82282 1.21533E-5 41141 0 3.18674E-5
1-63063422-A-G p.His62Arg missense ANGPTL3 1 82286 1.21527E-5 41143 0 3.99291E-6
1-63063425-A-C p.Lys63Thr missense ANGPTL3 10 82252 1.21578E-4 41126 0 9.55657E-5
1-63063429-G-A p.Thr64Thr synonymous ANGPTL3 1 82212 1.21637E-5 41106 0 7.19057E-5
1-63063444-T-C p.Asn69Asn synonymous ANGPTL3 11 82220 1.33787E-4 41110 0 1.27429E-4
1-63063445-G-A p.Asp70Asn missense ANGPTL3 1 82198 1.21657E-5 41099 0 8.28404E-6
1-63063454-C-A p.Gln73Lys missense ANGPTL3 2 82178 2.43374E-5 41089 0 3.18939E-5
1-63063460-C-T p.Leu75Phe missense ANGPTL3 1 82176 1.2169E-5 41088 0 3.18695E-5
1-63063465-C-G p.Asn76Lys missense ANGPTL3 185 82190 0.00225088 41095 2 0.00177349
1-63063466-A-G p.Ile77Val missense ANGPTL3 1 82210 1.2164E-5 41105 0 NA
1-63063475-C-G p.Gln80Glu missense ANGPTL3 1 82258 1.21569E-5 41129 0 3.99741E-6
1-63063480-T-C p.Ser81Ser synonymous ANGPTL3 8 82318 9.71841E-5 41159 0 8.28995E-5
1-63063494-C-T p.Ser86Leu missense ANGPTL3 2 82452 2.42565E-5 41226 0 3.18817E-5
1-63063495-G-A p.Ser86Ser synonymous ANGPTL3 1 82458 1.21274E-5 41229 0 2.49178E-5
1-63063509-A-G p.Glu91Gly missense ANGPTL3 13 82618 1.57351E-4 41309 0 2.86642E-4
1-63063514-AAAG-A p.Glu96del conservative_inframe_deletion ANGPTL3 16 82690 1.93494E-4 41345 0 3.82263E-4
1-63063529-G-A p.Glu98Lys missense ANGPTL3 1 82850 1.207E-5 41425 0 3.74451E-5
1-63063553-C-T p.Leu106Leu synonymous ANGPTL3 3 82930 3.61751E-5 41465 0 3.18939E-5
1-63063556-C-T p.Gln107* stop_gained ANGPTL3 1 82926 1.20589E-5 41463 0 3.19203E-5
1-63063565-A-G p.Asn110Asp missense ANGPTL3 2 82910 2.41225E-5 41455 0 8.63692E-6
1-63063573-G-A p.Glu112Glu synonymous ANGPTL3 3 82914 3.61821E-5 41457 0 NA
1-63063580-AAT-A p.Met116fs frameshift ANGPTL3 1 82934 1.20578E-5 41467 0 9.59886E-6
1-63063584-T-C p.Met116Thr missense ANGPTL3 1 82856 1.20691E-5 41428 0 4.83246E-6
1-63063586-T-C p.Ser117Pro missense ANGPTL3 1 82846 1.20706E-5 41423 0 8.73958E-6
1-63063589-C-T p.Leu118Phe missense ANGPTL3 2 82800 2.41546E-5 41400 0 2.46254E-5
1-63063592-GAACTC-G p.Asn121fs frameshift ANGPTL3 32 82794 3.86501E-4 41397 0 3.82702E-4
1-63063598-A-C p.Asn121His missense ANGPTL3 1 82612 1.21048E-5 41306 0 2.00164E-5
1-63063616-C-T p.Leu127Phe missense ANGPTL3 464 82680 0.005612 41340 1 0.00760269
1-63063641-A-G p.Gln135Arg missense ANGPTL3 3 82566 3.63346E-5 41283 0 3.18674E-5
1-63063667-CAACT-C p.Asn147fs frameshift ANGPTL3 20 82252 2.43155E-4 41126 0 1.73683E-4
1-63063676-AACTT-A p.Asn147fs frameshift ANGPTL3 1 82142 1.2174E-5 41071 0 NA
1-63063688-A-G p.Asn151Asp missense ANGPTL3 18 81994 2.19528E-4 40997 0 4.72817E-4
1-63063693-A-G p.Gln152Gln synonymous ANGPTL3 1 81862 1.22157E-5 40931 0 NA
1-63063694-C-T p.Pro153Ser missense ANGPTL3 1 81838 1.22193E-5 40919 0 NA
1-63063714-A-G p.Pro159Pro synonymous ANGPTL3 2 81422 2.45634E-5 40711 0 8.60348E-6
1-63063730-AAAGT-A p.Lys165fs frameshift ANGPTL3 1 80656 1.23983E-5 40328 0 NA
1-63063733-G-A c.495+1G>A splice_donor ANGPTL3 1 80510 1.24208E-5 40255 0 NA
1-63063738-T-C c.495+6T>C splice_region ANGPTL3 27 80052 3.37281E-4 40026 0 2.55102E-4
1-63064382-C-G p.Gln171Glu missense ANGPTL3 1 81488 1.22717E-5 40744 0 NA
1-63064390-T-C p.Asn173Asn synonymous ANGPTL3 1 81706 1.2239E-5 40853 0 2.49754E-5
1-63064393-C-T p.Ser174Ser synonymous ANGPTL3 2 81844 2.44367E-5 40922 0 3.18857E-5
1-63064411-G-C p.Gln180His missense ANGPTL3 1 82136 1.21749E-5 41068 0 NA
1-63064414-C-T p.Thr181Thr synonymous ANGPTL3 3 82108 3.65372E-5 41054 0 1.59388E-5
1-63064415-G-A p.Val182Met missense ANGPTL3 1 82112 1.21785E-5 41056 0 6.25E-4
1-63064423-C-T p.Asp184Asp synonymous ANGPTL3 1 82160 1.21714E-5 41080 0 2.49256E-5
1-63064436-T-C p.Leu189Leu synonymous ANGPTL3 76 82104 9.25655E-4 41052 0 0.0040282
1-63064442-C-T p.Gln191* stop_gained ANGPTL3 4 82046 4.87531E-5 41023 0 7.98282E-6
1-63064443-A-AATAATGGATTTG p.Gln191_Gln192insTerTrpIleTer stop_gained ANGPTL3 2 82050 2.43754E-5 41025 0 NA
1-63064445-CA-C p.Gln192fs frameshift ANGPTL3 16 82028 1.95055E-4 41014 0 5.73614E-4
1-63064445-C-T p.Gln192* stop_gained ANGPTL3 2 82016 2.43855E-5 41008 0 1.59674E-5
1-63064446-A-AATGGATTTGAAAAAT p.Gln192_His193insTrpIleTerLysMet stop_gained ANGPTL3 1 82018 1.21924E-5 41009 0 3.98835E-6
1-63064450-T-C p.His193His synonymous ANGPTL3 2 81898 2.44206E-5 40949 0 4.79111E-5
1-63064467-T-C p.Ile199Thr missense ANGPTL3 8 81476 9.81884E-5 40738 0 7.74753E-5
1-63066746-T-G c.607-7T>G splice_region ANGPTL3 1 81032 1.23408E-5 40516 0 3.19326E-5
1-63066765-AG-A p.Ser207fs frameshift ANGPTL3 1 81944 1.22035E-5 40972 0 NA
1-63066782-A-C p.Thr212Thr synonymous ANGPTL3 2 82100 2.43605E-5 41050 0 6.38162E-5
1-63066783-G-C p.Glu213Gln missense ANGPTL3 4 82136 4.86997E-5 41068 0 NA
1-63066794-A-G p.Leu216Leu synonymous ANGPTL3 2 82138 2.43493E-5 41069 0 NA
1-63066799-C-G p.Ser218Cys missense ANGPTL3 2 82178 2.43374E-5 41089 0 3.59018E-5
1-63066833-T-G p.Leu229Leu synonymous ANGPTL3 1 82068 1.2185E-5 41034 0 1.59679E-5
1-63066837-T-C p.Leu231Leu synonymous ANGPTL3 11 82004 1.3414E-4 41002 0 1.59602E-4
1-63066837-T-A p.Leu231Met missense ANGPTL3 2 82004 2.43891E-5 41002 0 NA
1-63066839-GA-G p.Asn232fs frameshift ANGPTL3 1 81990 1.21966E-5 40995 0 NA
1-63066846-A-G p.Ile234Val missense ANGPTL3 1 81906 1.22091E-5 40953 0 3.99387E-6
1-63066854-T-C p.Asn236Asn synonymous ANGPTL3 1 81718 1.22372E-5 40859 0 1.19884E-5
1-63066865-A-T p.Asp240Val missense+splice_region ANGPTL3 1 81456 1.22766E-5 40728 0 NA
1-63066875-A-G c.721+8A>G splice_region ANGPTL3 4 80968 4.94022E-5 40484 0 8.0143E-6
1-63067475-G-T p.Gly253Cys missense ANGPTL3 16 81824 1.95542E-4 40912 0 1.47866E-4
1-63067484-A-G p.Thr256Ala missense ANGPTL3 60 81870 7.32869E-4 40935 0 0.00352467
1-63067494-T-C p.Met259Thr missense ANGPTL3 617 81850 0.00753818 40925 14 0.0154053
1-63067496-T-C p.Tyr260His missense ANGPTL3 2 81904 2.44188E-5 40952 0 1.19823E-5
1-63067506-G-C p.Arg263Thr missense ANGPTL3 2 81894 2.44218E-5 40947 0 NA
1-63067519-T-C p.Ser267Ser synonymous ANGPTL3 2 81832 2.44403E-5 40916 0 7.43175E-5
1-63067527-T-C p.Phe270Ser missense ANGPTL3 1 81832 1.22202E-5 40916 0 NA
1-63067547-A-G p.Ile277Val missense ANGPTL3 1 81670 1.22444E-5 40835 0 NA
1-63067554-G-C c.835+1G>C splice_donor ANGPTL3 4 81496 4.90822E-5 40748 0 8.27541E-6
1-63067554-G-A c.835+1G>A splice_donor ANGPTL3 1 81496 1.22705E-5 40748 0 NA
1-63067951-T-C c.836-5T>C splice_region ANGPTL3 1 81852 1.22172E-5 40926 0 NA
1-63067964-T-C p.Trp282Arg missense ANGPTL3 2 82130 2.43516E-5 41065 0 1.99781E-5
1-63067971-T-C p.Leu284Ser missense ANGPTL3 2 82244 2.43179E-5 41122 0 3.19448E-5
1-63067983-G-A p.Arg288Gln missense ANGPTL3 1 82374 1.21398E-5 41187 0 3.30633E-5
1-63067988-G-C p.Asp290His missense ANGPTL3 4 82464 4.8506E-5 41232 0 2.39578E-4
1-63067994-T-C p.Ser292Pro missense ANGPTL3 3 82516 3.63566E-5 41258 0 4.9563E-5
1-63068003-T-C p.Phe295Leu missense ANGPTL3 1 82610 1.21051E-5 41305 0 3.19509E-5
1-63068007-A-G p.Asn296Ser missense ANGPTL3 1 82568 1.21112E-5 41284 0 2.47721E-5
1-63068008-T-A p.Asn296Lys missense ANGPTL3 4 82592 4.84308E-5 41296 0 1.59683E-4
1-63068015-T-C p.Trp299Arg missense ANGPTL3 1 82606 1.21057E-5 41303 0 NA
1-63068019-A-G p.Glu300Gly missense ANGPTL3 1 82640 1.21007E-5 41320 0 NA
1-63068020-G-A p.Glu300Glu synonymous ANGPTL3 3 82646 3.62994E-5 41323 0 NA
1-63068026-C-A p.Tyr302* stop_gained ANGPTL3 4 82618 4.84156E-5 41309 0 1.19564E-5
1-63068052-G-GT c.931+1_931+2insT splice_donor ANGPTL3 6 82536 7.26955E-5 41268 0 6.38896E-5
1-63068057-G-A c.931+6G>A splice_region ANGPTL3 1 82446 1.21292E-5 41223 0 8.26037E-6
1-63069653-G-T p.Leu315Phe missense ANGPTL3 1 82766 1.20823E-5 41383 0 NA
1-63069664-A-G p.Lys319Arg missense ANGPTL3 41 82800 4.95169E-4 41400 2 2.86971E-4
1-63069667-T-C p.Ile320Thr missense ANGPTL3 2 82798 2.41552E-5 41399 0 3.18979E-5
1-63069676-T-C p.Ile323Thr missense ANGPTL3 1 82804 1.20767E-5 41402 0 NA
1-63069684-C-A p.Gln326Lys missense ANGPTL3 1 82792 1.20785E-5 41396 0 NA
1-63069693-T-C p.Tyr329His missense ANGPTL3 1 82838 1.20718E-5 41419 0 NA
1-63069695-T-C p.Tyr329Tyr synonymous ANGPTL3 1 82844 1.20709E-5 41422 0 8.28981E-6
1-63069703-G-A p.Arg332Gln missense ANGPTL3 20 82858 2.41377E-4 41429 0 0.00187735
1-63069706-T-G p.Ile333Ser missense ANGPTL3 10 82880 1.20656E-4 41440 0 1.91363E-4
1-63069710-G-T p.Glu334Asp missense ANGPTL3 1 82890 1.20642E-5 41445 0 NA
1-63069711-T-C p.Leu335Leu synonymous ANGPTL3 1642 82870 0.0198142 41435 62 0.0355047
1-63069713-G-A p.Leu335Leu synonymous ANGPTL3 1 82904 1.20621E-5 41452 0 NA
1-63069719-C-T p.Asp337Asp synonymous ANGPTL3 1 82910 1.20613E-5 41455 0 3.98759E-6
1-63069736-A-G p.His343Arg missense ANGPTL3 21 83006 2.52994E-4 41503 0 0.00151057
1-63069742-T-C p.Ile345Thr missense ANGPTL3 2 83026 2.40888E-5 41513 0 5.03525E-4
1-63069784-C-G p.Thr359Arg missense ANGPTL3 1 83134 1.20288E-5 41567 0 NA
1-63069787-T-A p.Leu360Gln missense ANGPTL3 1 83134 1.20288E-5 41567 0 8.24701E-6
1-63069797-T-G p.Val363Val synonymous ANGPTL3 1 83160 1.2025E-5 41580 0 3.58189E-5
1-63069799-C-T p.Ala364Val missense ANGPTL3 2 83164 2.40489E-5 41582 0 1.64924E-5
1-63069800-G-C p.Ala364Ala synonymous ANGPTL3 2 83178 2.40448E-5 41589 0 3.29826E-5
1-63069806-T-C p.Thr366Thr synonymous ANGPTL3 3 83172 3.60698E-5 41586 0 1.64902E-5
1-63069812-T-C p.Asn368Asn synonymous ANGPTL3 1 83180 1.20221E-5 41590 0 8.24525E-6
1-63069813-G-T p.Val369Phe missense ANGPTL3 2 83180 2.40442E-5 41590 0 NA
1-63069820-A-G p.Asn371Ser missense ANGPTL3 17 83196 2.04337E-4 41598 0 0.00100705
1-63069821-T-C p.Asn371Asn synonymous ANGPTL3 2 83192 2.40408E-5 41596 0 0.00100705
1-63069824-A-T p.Ala372Ala synonymous ANGPTL3 1 83198 1.20195E-5 41599 0 2.47361E-5
1-63069828-C-T p.Pro374Ser missense ANGPTL3 5 83182 6.01092E-5 41591 0 3.19061E-5
1-63069829-C-T p.Pro374Leu missense ANGPTL3 2 83184 2.40431E-5 41592 0 9.57182E-5
1-63069830-G-A p.Pro374Pro synonymous ANGPTL3 30 83186 3.60638E-4 41593 0 7.66186E-4
1-63069831-GA-G p.Asn376fs frameshift ANGPTL3 1 83190 1.20207E-5 41595 0 NA
1-63069845-G-C p.Leu379Phe missense ANGPTL3 1 83176 1.20227E-5 41588 0 NA
1-63069846-G-A p.Val380Met missense ANGPTL3 3 83172 3.60698E-5 41586 0 8.24729E-6
1-63069855-A-T p.Thr383Ser missense ANGPTL3 14 83160 1.6835E-4 41580 0 0.00100705
1-63069856-C-T p.Thr383Ile missense ANGPTL3 5 83156 6.0128E-5 41578 0 4.37888E-5
1-63069856-C-G p.Thr383Ser missense ANGPTL3 1 83156 1.20256E-5 41578 0 NA
1-63069858-T-C p.Trp384Arg missense ANGPTL3 1 83152 1.20262E-5 41576 0 1.19405E-5
1-63069868-A-G p.Lys387Arg missense ANGPTL3 1 83150 1.20265E-5 41575 0 NA
1-63069876-G-C p.Gly390Arg missense ANGPTL3 1 83134 1.20288E-5 41567 0 NA
1-63069886-A-G p.Asn393Ser missense ANGPTL3 2 83128 2.40593E-5 41564 0 NA
1-63069895-AG-A p.Gly397fs frameshift ANGPTL3 1 83086 1.20357E-5 41543 0 NA
1-63069905-A-G p.Ser399Ser splice_region+synonymous ANGPTL3 2 83032 2.40871E-5 41516 0 NA
1-63069909-A-T c.1198+3A>T splice_region ANGPTL3 1 83008 1.2047E-5 41504 0 NA
1-63069911-C-T c.1198+5C>T splice_region ANGPTL3 1 83006 1.20473E-5 41503 0 3.98746E-6
1-63069912-T-C c.1198+6T>C splice_region ANGPTL3 3 82992 3.61481E-5 41496 0 7.97537E-6
1-63069914-T-C c.1198+8T>C splice_region ANGPTL3 1 82982 1.20508E-5 41491 0 3.98756E-6
1-63070296-T-G c.1199-8T>G splice_region ANGPTL3 1 82570 1.21109E-5 41285 0 3.9901E-6
1-63070300-T-C c.1199-4T>C splice_region ANGPTL3 1 82606 1.21057E-5 41303 0 8.27691E-6
1-63070316-G-A p.Trp404* stop_gained ANGPTL3 2 82682 2.41891E-5 41341 0 3.18918E-5
1-63070320-T-G p.His405Gln missense ANGPTL3 1 82704 1.20913E-5 41352 0 NA
1-63070323-T-G p.Asp406Glu missense ANGPTL3 2 82718 2.41785E-5 41359 0 1.65153E-5
1-63070347-T-C p.Asn414Asn synonymous ANGPTL3 1 82700 1.20919E-5 41350 0 NA
1-63070350-TA-T p.Lys416fs frameshift ANGPTL3 1 82646 1.20998E-5 41323 0 NA
1-63070355-A-G p.Tyr417Cys missense ANGPTL3 3 82616 3.63126E-5 41308 0 1.19636E-5
1-63070380-G-C p.Lys425Asn missense ANGPTL3 1 82304 1.21501E-5 41152 0 NA
1-63070385-AGAG-A p.Arg429del disruptive_inframe_deletion ANGPTL3 1 82246 1.21586E-5 41123 0 3.18918E-5
1-63070389-G-A p.Arg428Arg synonymous ANGPTL3 1 82206 1.21646E-5 41103 0 1.19836E-5
1-63070403-C-T p.Ser433Phe missense ANGPTL3 3 81982 3.65934E-5 40991 0 8.28981E-6
1-63070403-C-A p.Ser433Tyr missense ANGPTL3 2 81982 2.43956E-5 40991 0 2.48694E-5
1-63070416-A-G p.Gln437Gln synonymous ANGPTL3 1 81838 1.22193E-5 40919 0 NA
1-63070419-T-C p.Asn438Asn synonymous ANGPTL3 1 81740 1.22339E-5 40870 0 1.27608E-4
1-63070431-C-T p.Tyr442Tyr synonymous ANGPTL3 1 81534 1.22648E-5 40767 0 8.00974E-6
1-63070451-T-C p.Met449Thr missense ANGPTL3 1 81162 1.2321E-5 40581 0 4.01378E-6
1-63070452-G-A p.Met449Ile missense ANGPTL3 1 81120 1.23274E-5 40560 0 NA
1-63070460-A-G p.His452Arg missense ANGPTL3 1 80974 1.23496E-5 40487 0 NA
1-63070470-T-G p.Asp455Glu missense ANGPTL3 8 80816 9.89903E-5 40408 0 0.00251762
1-63070484-A-C p.Glu460Ala missense ANGPTL3 3 80458 3.72865E-5 40229 0 1.674E-5