Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-101762013-T-C p.Lys388Lys synonymous ANGPTL5 1716 82830 0.0207171 41415 20 0.0276939
11-101762019-A-C p.Tyr386* stop_gained ANGPTL5 49 83044 5.90049E-4 41522 0 0.0020141
11-101762022-T-C p.Pro385Pro synonymous ANGPTL5 1 83072 1.20378E-5 41536 0 8.35534E-6
11-101762028-G-A p.Tyr383Tyr synonymous ANGPTL5 1 83126 1.20299E-5 41563 0 6.36821E-5
11-101762045-T-C p.Lys378Glu missense ANGPTL5 1 83220 1.20163E-5 41610 0 NA
11-101762048-T-C p.Met377Val missense ANGPTL5 2 83232 2.40292E-5 41616 0 NA
11-101762079-G-GT p.Asn366fs frameshift ANGPTL5 62 83330 7.4403E-4 41665 0 0.00205385
11-101762091-C-T p.Thr362Thr synonymous ANGPTL5 3 83346 3.59945E-5 41673 0 8.24171E-5
11-101762092-G-A p.Thr362Met missense ANGPTL5 13 83348 1.55973E-4 41674 0 1.27486E-4
11-101762100-T-C p.Gln359Gln synonymous ANGPTL5 1 83366 1.19953E-5 41683 0 1.1934E-5
11-101762118-C-T p.Leu353Leu synonymous ANGPTL5 12 83366 1.43944E-4 41683 0 2.23029E-4
11-101762132-A-G p.Phe349Leu missense ANGPTL5 2 83380 2.39866E-5 41690 0 4.94372E-5
11-101762137-T-C p.His347Arg missense ANGPTL5 2 83370 2.39894E-5 41685 0 NA
11-101762148-T-C p.Leu343Leu synonymous ANGPTL5 2 83382 2.3986E-5 41691 0 3.18451E-5
11-101762164-C-G p.Cys338Ser missense ANGPTL5 3 83374 3.59824E-5 41687 0 6.25E-4
11-101762165-A-T p.Cys338Ser missense ANGPTL5 2 83370 2.39894E-5 41685 0 5.96531E-5
11-101762168-C-T p.Glu337Lys missense ANGPTL5 4 83370 4.79789E-5 41685 0 0.00125
11-101762169-G-A p.Asn336Asn synonymous ANGPTL5 35 83374 4.19795E-4 41687 0 0.00101956
11-101762174-A-C p.Phe335Val missense ANGPTL5 1 83366 1.19953E-5 41683 0 0.00503525
11-101762183-C-A p.Gly332Cys missense ANGPTL5 3 83368 3.5985E-5 41684 0 3.18613E-5
11-101762184-G-A p.Thr331Thr synonymous ANGPTL5 64 83366 7.67699E-4 41683 0 0.00125
11-101762191-T-C p.Asn329Ser missense ANGPTL5 4 83366 4.79812E-5 41683 0 2.22958E-4
11-101762193-A-G p.His328His synonymous ANGPTL5 1 83366 1.19953E-5 41683 0 8.23913E-6
11-101762194-T-C p.His328Arg missense ANGPTL5 1 83366 1.19953E-5 41683 0 NA
11-101762195-G-A p.His328Tyr missense ANGPTL5 16 83366 1.91925E-4 41683 0 1.43175E-4
11-101762206-C-T p.Cys324Tyr missense ANGPTL5 2 83366 2.39906E-5 41683 0 4.41489E-4
11-101762211-C-G p.Lys322Asn missense ANGPTL5 3 83368 3.5985E-5 41684 0 3.18471E-5
11-101762232-C-A p.Leu315Leu synonymous ANGPTL5 1 83356 1.19967E-5 41678 0 NA
11-101762235-G-A p.Cys314Cys synonymous ANGPTL5 1 83354 1.1997E-5 41677 0 8.24266E-6
11-101762237-A-G p.Cys314Arg missense ANGPTL5 1 83354 1.1997E-5 41677 0 NA
11-101762239-G-A p.Ala313Val missense ANGPTL5 1 83348 1.19979E-5 41674 0 NA
11-101762245-C-T p.Arg311His missense ANGPTL5 2 83326 2.40021E-5 41663 0 6.25E-4
11-101762246-G-A p.Arg311Cys missense ANGPTL5 6 83328 7.20046E-5 41664 0 1.19372E-5
11-101762250-C-T p.Gly309Gly synonymous ANGPTL5 1 83326 1.20011E-5 41663 0 NA
11-101762251-C-A p.Gly309Val missense ANGPTL5 1 83328 1.20008E-5 41664 0 3.9794E-6
11-101762252-C-T p.Gly309Arg missense ANGPTL5 86 83326 0.00103209 41663 1 0.00331147
11-101762253-A-G p.Asp308Asp synonymous ANGPTL5 2 83328 2.40015E-5 41664 0 NA
11-101762254-T-C p.Asp308Gly missense ANGPTL5 1 83328 1.20008E-5 41664 0 3.97931E-5
11-101762269-G-A p.Ser303Leu missense ANGPTL5 1 83314 1.20028E-5 41657 0 5.03525E-4
11-101762270-A-G p.Ser303Pro missense ANGPTL5 43 83310 5.16145E-4 41655 0 0.00111458
11-101762281-G-A p.Pro299Leu missense ANGPTL5 2 83304 2.40085E-5 41652 0 3.97981E-6
11-101762285-T-C p.Met298Val missense ANGPTL5 4 83288 4.80261E-5 41644 0 1.91095E-4
11-101762298-ATCT-A p.Glu292del disruptive_inframe_deletion ANGPTL5 1 83276 1.20083E-5 41638 0 NA
11-101762298-A-G p.Asp293Asp synonymous ANGPTL5 2 83276 2.40165E-5 41638 0 3.98013E-6
11-101762300-C-G p.Asp293His missense ANGPTL5 3 83270 3.60274E-5 41635 0 0.0020141
11-101762302-T-A p.Glu292Val missense ANGPTL5 5 83258 6.00543E-5 41629 0 4.46835E-4
11-101762309-T-C p.Lys290Glu missense ANGPTL5 1 83232 1.20146E-5 41616 0 3.98165E-6
11-101762310-G-T p.Leu289Leu synonymous ANGPTL5 1 83224 1.20158E-5 41612 0 NA
11-101762317-C-T p.Arg287Gln missense ANGPTL5 4 83190 4.80827E-5 41595 0 7.17114E-5
11-101762318-G-A p.Arg287Trp missense ANGPTL5 2 83194 2.40402E-5 41597 0 2.39069E-5
11-101762331-T-C c.848-2A>G splice_acceptor ANGPTL5 1 83126 1.20299E-5 41563 0 8.86352E-6
11-101762333-G-A c.848-4C>T splice_region ANGPTL5 1 83116 1.20314E-5 41558 0 2.68437E-5
11-101762334-GA-G c.848-6delT splice_region ANGPTL5 4 83106 4.81313E-5 41553 0 1.20151E-5
11-101765603-AT-A c.847+6delA splice_region ANGPTL5 1 82546 1.21145E-5 41273 0 4.0007E-6
11-101765604-T-A c.847+6A>T splice_region ANGPTL5 4300 82326 0.0522314 41163 165 0.0941923
11-101765609-C-A c.847+1G>T splice_donor ANGPTL5 14 82662 1.69364E-4 41331 0 5.98879E-5
11-101765612-G-A p.Ala282Val missense+splice_region ANGPTL5 1 82708 1.20907E-5 41354 0 8.31407E-6
11-101765628-G-A p.Arg277Trp missense ANGPTL5 39 82926 4.70299E-4 41463 2 0.00258569
11-101765631-C-T p.Gly276Arg missense ANGPTL5 1 82972 1.20523E-5 41486 0 NA
11-101765632-T-C p.Leu275Leu synonymous ANGPTL5 1 82968 1.20528E-5 41484 0 6.37471E-5
11-101765648-A-C p.Phe270Cys missense ANGPTL5 1 83036 1.2043E-5 41518 0 1.59302E-5
11-101765651-C-G p.Arg269Thr missense ANGPTL5 1 83054 1.20404E-5 41527 0 7.96489E-6
11-101765652-T-C p.Arg269Gly missense ANGPTL5 18 83054 2.16726E-4 41527 0 7.32531E-4
11-101765654-G-A p.Thr268Met missense ANGPTL5 2552 82950 0.0307655 41475 33 0.04125
11-101765681-T-C p.Tyr259Cys missense ANGPTL5 3 83100 3.61011E-5 41550 0 1.99041E-5
11-101765698-A-G p.Thr253Thr synonymous ANGPTL5 3 83086 3.61072E-5 41543 0 3.05699E-4
11-101765698-AG-GC p.Thr253Ser missense ANGPTL5 7 83086 8.42501E-5 41543 0 NA
11-101765699-G-C p.Thr253Ser missense ANGPTL5 3 83086 3.61072E-5 41543 0 3.05714E-4
11-101765701-G-A p.Asp252Asp synonymous ANGPTL5 1 83088 1.20354E-5 41544 0 4.3795E-5
11-101765732-A-G p.Met242Thr missense ANGPTL5 1 83040 1.20424E-5 41520 0 NA
11-101765734-A-G p.Phe241Phe synonymous ANGPTL5 1 83030 1.20438E-5 41515 0 NA
11-101765739-T-C p.Ser240Gly missense ANGPTL5 1 82928 1.20587E-5 41464 0 NA
11-101765747-T-G p.Lys237Thr missense ANGPTL5 2 82866 2.41354E-5 41433 0 8.398E-6
11-101765750-T-C p.Gln236Arg missense ANGPTL5 2 82834 2.41447E-5 41417 0 8.45637E-6
11-101765756-A-G p.Val234Ala missense ANGPTL5 3 82762 3.62485E-5 41381 0 3.18613E-5
11-101765760-T-C p.Ile233Val missense ANGPTL5 4 82690 4.83734E-5 41345 0 3.18674E-5
11-101765761-A-G p.Tyr232Tyr synonymous ANGPTL5 2 82662 2.41949E-5 41331 0 NA
11-101765784-G-C p.Leu225Val missense ANGPTL5 6 82048 7.31279E-5 41024 0 1.27592E-4
11-101765796-C-CAGA c.662-2_662-1insTCT splice_acceptor ANGPTL5 1 81650 1.22474E-5 40825 0 4.40921E-6
11-101765798-G-C c.662-3C>G splice_region ANGPTL5 1 81462 1.22757E-5 40731 0 4.44939E-6
11-101765799-T-TA c.662-5_662-4insT splice_region ANGPTL5 29 81398 3.56274E-4 40699 0 7.69675E-4
11-101771135-TAGAGTAGAAATACAAAAA-T c.661+8_661+25delTTTTTGTATTTCTACTCT splice_region ANGPTL5 2 82892 2.41278E-5 41446 0 8.39673E-6
11-101771155-A-T c.661+6T>A splice_region ANGPTL5 11 82996 1.32537E-4 41498 0 2.54793E-4
11-101771156-T-A c.661+5A>T splice_region ANGPTL5 2 83010 2.40935E-5 41505 0 4.46856E-4
11-101771185-G-A p.Leu213Leu synonymous ANGPTL5 1 83096 1.20343E-5 41548 0 NA
11-101771200-A-G p.Leu208Leu synonymous ANGPTL5 7 83134 8.42014E-5 41567 0 8.75427E-5
11-101771215-T-C p.Ile203Val missense ANGPTL5 2 83106 2.40657E-5 41553 0 3.18573E-5
11-101771221-C-G p.Gly201Arg missense ANGPTL5 4 83106 4.81313E-5 41553 0 3.97855E-6
11-101771232-T-C p.Lys197Arg missense ANGPTL5 1 83102 1.20334E-5 41551 0 3.97842E-6
11-101771237-T-C p.Ile195Met missense ANGPTL5 3 83078 3.61106E-5 41539 0 1.91083E-4
11-101771239-T-C p.Ile195Val missense ANGPTL5 9 83070 1.08342E-4 41535 0 1.73036E-4
11-101771243-A-C p.Thr193Thr synonymous ANGPTL5 86 83054 0.00103547 41527 2 7.33343E-4
11-101771243-A-G p.Thr193Thr synonymous ANGPTL5 3 83054 3.61211E-5 41527 0 1.91034E-4
11-101771248-G-A p.Arg192Trp missense ANGPTL5 82001 82750 0.990949 41375 40639 0.995668
11-101771248-G-T p.Arg192Arg synonymous ANGPTL5 1 83048 1.20412E-5 41524 0 NA
11-101771251-C-T p.Gly191Arg missense ANGPTL5 2 83046 2.4083E-5 41523 0 3.18294E-5
11-101771263-A-C p.Tyr187Asp missense ANGPTL5 2 83032 2.40871E-5 41516 0 NA
11-101771268-A-T p.Met185Lys missense ANGPTL5 1 83006 1.20473E-5 41503 0 NA
11-101773351-C-G c.540+1G>C splice_donor ANGPTL5 3 81794 3.66775E-5 40897 0 3.58606E-5
11-101773354-C-G p.Glu180Gln missense+splice_region ANGPTL5 1 81908 1.22088E-5 40954 0 NA
11-101773358-T-C p.Pro178Pro synonymous ANGPTL5 1 81948 1.22029E-5 40974 0 8.24158E-6
11-101773369-A-G p.Ser175Pro missense ANGPTL5 17 82086 2.071E-4 41043 0 6.69301E-4
11-101773388-G-A p.Tyr168Tyr synonymous ANGPTL5 1 82326 1.21468E-5 41163 0 NA
11-101773400-C-G p.Pro164Pro synonymous ANGPTL5 2 82334 2.42913E-5 41167 0 NA
11-101773401-G-A p.Pro164Leu missense ANGPTL5 13 82332 1.57897E-4 41166 0 0.00100705
11-101773410-G-A p.Thr161Ile missense ANGPTL5 2 82346 2.42878E-5 41173 0 8.24144E-6
11-101773422-A-G p.Ile157Thr missense ANGPTL5 5 82288 6.07622E-5 41144 0 3.18756E-5
11-101773427-A-C p.Asp155Glu missense ANGPTL5 1 82194 1.21663E-5 41097 0 NA
11-101773442-G-A p.Cys150Cys synonymous ANGPTL5 18 81952 2.19641E-4 40976 0 5.03525E-4
11-101773446-T-C p.Asp149Gly missense ANGPTL5 4 81852 4.88687E-5 40926 0 8.26282E-6
11-101775537-GT-G c.439+7delA splice_region ANGPTL5 4 82520 4.84731E-5 41260 0 9.55718E-5
11-101775545-C-T p.Gly147Ser missense+splice_region ANGPTL5 3 82656 3.6295E-5 41328 0 6.25E-4
11-101775548-G-A p.His146Tyr missense ANGPTL5 1 82690 1.20934E-5 41345 0 7.96204E-6
11-101775559-G-A p.Pro142Leu missense ANGPTL5 4 82758 4.83337E-5 41379 0 5.03525E-4
11-101775560-G-A p.Pro142Ser missense ANGPTL5 3 82764 3.62476E-5 41382 0 3.97966E-6
11-101775567-AG-A p.Pro139fs frameshift ANGPTL5 1 82816 1.2075E-5 41408 0 NA
11-101775580-A-C p.Leu135Arg missense ANGPTL5 2 82886 2.41295E-5 41443 0 NA
11-101775581-G-A p.Leu135Leu synonymous ANGPTL5 3 82886 3.61943E-5 41443 0 1.65303E-5
11-101775581-G-C p.Leu135Val missense ANGPTL5 2 82886 2.41295E-5 41443 0 4.3772E-5
11-101775585-T-C p.Lys133Lys synonymous ANGPTL5 1 82898 1.2063E-5 41449 0 3.18492E-5
11-101775601-G-A p.Thr128Ile missense ANGPTL5 1 82860 1.20685E-5 41430 0 NA
11-101775609-A-G p.Leu125Leu synonymous ANGPTL5 1 82822 1.20741E-5 41411 0 NA
11-101775618-T-C p.Arg122Arg synonymous ANGPTL5 2 82794 2.41563E-5 41397 0 8.27636E-6
11-101775633-G-A p.Asn117Asn synonymous ANGPTL5 14 82568 1.69557E-4 41284 0 5.03525E-4
11-101776499-A-G p.Ala107Ala synonymous ANGPTL5 1 81600 1.22549E-5 40800 0 NA
11-101776501-C-T p.Ala107Thr missense ANGPTL5 2 81644 2.44966E-5 40822 0 3.99061E-6
11-101776503-T-C p.Gln106Arg missense ANGPTL5 1 81668 1.22447E-5 40834 0 NA
11-101776514-C-T p.Met102Ile missense ANGPTL5 2 81766 2.446E-5 40883 0 3.9895E-6
11-101776527-A-G p.Leu98Pro missense ANGPTL5 221 81844 0.00270026 40922 2 0.0110999
11-101776528-G-C p.Leu98Val missense ANGPTL5 1 81846 1.22181E-5 40923 0 3.99042E-6
11-101776531-G-GT p.Leu97fs frameshift ANGPTL5 1 81832 1.22202E-5 40916 0 7.98499E-6
11-101776542-C-T p.Ser93Asn missense ANGPTL5 2 81766 2.446E-5 40883 0 2.75572E-4
11-101776546-T-C p.Arg92Gly missense ANGPTL5 1 81818 1.22222E-5 40909 0 NA
11-101776549-T-C p.Thr91Ala missense ANGPTL5 2 81738 2.44684E-5 40869 0 NA
11-101776581-T-C c.242-3A>G splice_region ANGPTL5 4 80800 4.95049E-5 40400 0 1.27429E-4
11-101776582-A-C c.242-4T>G splice_region ANGPTL5 5 80712 6.19487E-5 40356 0 7.05517E-5
11-101777830-T-A c.241+4A>T splice_region ANGPTL5 1 81650 1.22474E-5 40825 0 6.31772E-5
11-101777834-T-G p.Arg81Arg splice_region+synonymous ANGPTL5 1 81808 1.22237E-5 40904 0 3.18837E-5
11-101777842-A-C p.Phe78Cys missense ANGPTL5 1 82044 1.21886E-5 41022 0 8.4156E-6
11-101777844-A-G p.His77His synonymous ANGPTL5 2 82092 2.43629E-5 41046 0 2.65175E-5
11-101777858-G-A p.Arg73* stop_gained ANGPTL5 1 82120 1.21773E-5 41060 0 6.25782E-4
11-101777882-A-T p.Cys65Ser missense ANGPTL5 1 82364 1.21412E-5 41182 0 NA
11-101777890-TCA-T p.Cys61fs frameshift ANGPTL5 1 82412 1.21342E-5 41206 0 6.37633E-5
11-101777897-C-T p.Asp60Asn missense ANGPTL5 2 82404 2.42707E-5 41202 0 1.49708E-4
11-101777910-A-G p.Thr55Thr synonymous ANGPTL5 1 82310 1.21492E-5 41155 0 1.31895E-5
11-101777916-A-G p.Asn53Asn synonymous ANGPTL5 1 82260 1.21566E-5 41130 0 6.37796E-5
11-101777921-T-C p.Ser52Gly missense ANGPTL5 2 82180 2.43368E-5 41090 0 NA
11-101777940-A-G p.Asn45Asn synonymous ANGPTL5 2 81924 2.44129E-5 40962 0 3.07531E-5
11-101777944-G-T p.Ser44Tyr missense ANGPTL5 1 81886 1.22121E-5 40943 0 1.56245E-5
11-101777953-T-G p.Glu41Ala missense ANGPTL5 1 81742 1.22336E-5 40871 0 4.58855E-6
11-101777970-T-C p.Ser35Ser synonymous ANGPTL5 1 81296 1.23007E-5 40648 0 3.19163E-5
11-101777971-GAA-G p.Val36fs frameshift ANGPTL5 1 81234 1.23101E-5 40617 0 4.9772E-6
11-101777975-A-G p.Ser34Pro missense ANGPTL5 1 80960 1.23518E-5 40480 0 4.11032E-5
11-101777978-C-A p.Asp33Tyr missense+splice_region ANGPTL5 1 80698 1.23919E-5 40349 0 NA
11-101777978-C-T p.Asp33Asn missense+splice_region ANGPTL5 1 80698 1.23919E-5 40349 0 1.27853E-4
11-101777981-T-C c.97-3A>G splice_region ANGPTL5 1 80470 1.2427E-5 40235 0 NA
11-101777984-T-C c.97-6A>G splice_region ANGPTL5 1 80138 1.24785E-5 40069 0 5.25652E-5
11-101777985-A-G c.97-7T>C splice_region ANGPTL5 2 79944 2.50175E-5 39972 0 2.23442E-4
11-101778545-C-T p.Thr32Thr splice_region+synonymous ANGPTL5 3 80604 3.7219E-5 40302 0 1.99598E-5
11-101778546-G-A p.Thr32Met missense+splice_region ANGPTL5 9 80708 1.11513E-4 40354 0 9.56084E-5
11-101778549-G-A p.Ser31Phe missense ANGPTL5 1 80916 1.23585E-5 40458 0 5.05561E-4
11-101778552-T-C p.His30Arg missense ANGPTL5 1 81046 1.23387E-5 40523 0 NA
11-101778559-C-T p.Val28Ile missense ANGPTL5 4 81244 4.92344E-5 40622 0 8.49805E-6
11-101778584-A-T p.Cys19* stop_gained ANGPTL5 1 81660 1.22459E-5 40830 0 3.18512E-5
11-101778588-A-C p.Ile18Ser missense ANGPTL5 1 81656 1.22465E-5 40828 0 3.18532E-5
11-101778596-A-G p.Cys15Cys synonymous ANGPTL5 1 81736 1.22345E-5 40868 0 2.53007E-5
11-101778616-G-A p.Leu9Phe missense ANGPTL5 2 81648 2.44954E-5 40824 0 NA
11-101778617-T-C p.Ser8Ser synonymous ANGPTL5 2 81616 2.4505E-5 40808 0 3.18837E-5
11-101778626-G-T p.Ser5Ser synonymous ANGPTL5 2 81430 2.4561E-5 40715 0 3.18674E-5
11-101778637-T-C p.Met2Val missense ANGPTL5 1 81126 1.23265E-5 40563 0 NA
11-101778660-A-C c.-20T>G 5_prime_UTR_premature_start_codon_gain ANGPTL5 1 79762 1.25373E-5 39881 0 9.6933E-6
11-101778735-G-A c.-92-3C>T splice_region ANGPTL5 2 69114 2.89377E-5 34557 0 3.18715E-5
11-101778736-G-A c.-92-4C>T splice_region ANGPTL5 2 68918 2.902E-5 34459 0 6.37186E-5
11-101778738-A-T c.-92-6T>A splice_region ANGPTL5 2 68628 2.91426E-5 34314 0 NA
11-101778740-G-A c.-92-8C>T splice_region ANGPTL5 1 68260 1.46499E-5 34130 0 3.18613E-5
11-101786936-G-C c.-279C>G 5_prime_UTR_premature_start_codon_gain ANGPTL5 2 2944 6.79348E-4 1472 0 3.18532E-5
11-101787112-A-G c.-455T>C 5_prime_UTR_premature_start_codon_gain ANGPTL5 712 2278 0.312555 1139 1 0.411102