Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-6324661-G-C p.Pro370Arg missense ACOT7 1 82222 1.21622E-5 41111 0 3.18552E-5
1-6324665-G-T p.Gln369Lys missense ACOT7 6 82224 7.29714E-5 41112 0 6.45518E-5
1-6324672-C-T p.Ala366Ala synonymous ACOT7 5 82334 6.07283E-5 41167 0 6.37592E-5
1-6324673-G-A p.Ala366Val missense ACOT7 11 82312 1.33638E-4 41156 0 3.50542E-4
1-6324674-C-A p.Ala366Ser missense ACOT7 2 82350 2.42866E-5 41175 0 1.27478E-4
1-6324674-C-T p.Ala366Thr missense ACOT7 1 82350 1.21433E-5 41175 0 8.97779E-6
1-6324675-G-A p.His365His synonymous ACOT7 3 82372 3.64201E-5 41186 0 4.01745E-5
1-6324690-C-T p.Ala360Ala synonymous ACOT7 2 82672 2.4192E-5 41336 0 1.20187E-5
1-6324709-C-T p.Arg354Gln missense ACOT7 1 82788 1.2079E-5 41394 0 1.70346E-5
1-6324716-T-C p.Lys352Glu missense ACOT7 2 82830 2.41458E-5 41415 0 NA
1-6324741-G-A p.Asp343Asp synonymous ACOT7 14 82724 1.69237E-4 41362 0 2.5481E-4
1-6324746-C-T p.Glu342Lys missense ACOT7 1 82670 1.20963E-5 41335 0 3.1841E-5
1-6324747-G-A p.Thr341Thr synonymous ACOT7 1527 82564 0.0184947 41282 35 0.0493454
1-6324753-G-C p.Pro339Pro splice_region+synonymous ACOT7 2 82506 2.42407E-5 41253 0 8.70944E-6
1-6324753-G-A p.Pro339Pro splice_region+synonymous ACOT7 2 82506 2.42407E-5 41253 0 1.12334E-4
1-6324755-G-C p.Pro339Ala missense+splice_region ACOT7 1 82448 1.21289E-5 41224 0 8.73668E-6
1-6324756-C-T c.1015-1G>A splice_acceptor ACOT7 1 82454 1.2128E-5 41227 0 NA
1-6341154-G-A c.1014+8C>T splice_region ACOT7 537 82384 0.00651826 41192 5 0.0152934
1-6341183-C-T p.Ser331Ser synonymous ACOT7 7 82776 8.45656E-5 41388 0 1.03864E-4
1-6341183-C-A p.Ser331Ser synonymous ACOT7 9 82776 1.08727E-4 41388 0 6.25E-4
1-6341184-G-A p.Ser331Leu missense ACOT7 1 82826 1.20735E-5 41413 0 7.98123E-6
1-6341186-C-T p.Arg330Arg synonymous ACOT7 6 82870 7.24026E-5 41435 0 9.29918E-5
1-6341190-C-T p.Gly329Asp missense ACOT7 1 82948 1.20557E-5 41474 0 NA
1-6341204-C-T p.Ser324Ser synonymous ACOT7 2 83010 2.40935E-5 41505 0 1.59425E-5
1-6341210-G-A p.Tyr322Tyr synonymous ACOT7 1 83076 1.20372E-5 41538 0 1.19494E-5
1-6341216-G-A p.Phe320Phe synonymous ACOT7 1 83106 1.20328E-5 41553 0 0.00100908
1-6341239-A-G p.Tyr313His missense ACOT7 1 83128 1.20296E-5 41564 0 NA
1-6341241-C-T p.Arg312His missense ACOT7 1 83120 1.20308E-5 41560 0 8.27924E-6
1-6341242-G-T p.Arg312Ser missense ACOT7 1 83116 1.20314E-5 41558 0 5.04032E-4
1-6341242-G-A p.Arg312Cys missense ACOT7 3 83116 3.60941E-5 41558 0 8.27815E-5
1-6341270-G-A p.Ala302Ala synonymous ACOT7 1 83166 1.20241E-5 41583 0 3.18512E-5
1-6341272-C-T p.Ala302Thr missense ACOT7 1 83166 1.20241E-5 41583 0 1.98948E-5
1-6341276-C-T p.Val300Val synonymous ACOT7 4 83196 4.80792E-5 41598 0 6.25E-4
1-6341281-A-G p.Leu299Leu synonymous ACOT7 1 83182 1.20218E-5 41591 0 8.25587E-6
1-6341281-A-C p.Leu299Val missense ACOT7 1 83182 1.20218E-5 41591 0 NA
1-6341287-C-G p.Glu297Gln missense ACOT7 1 83158 1.20253E-5 41579 0 NA
1-6341288-G-A p.Ile296Ile synonymous ACOT7 2 83160 2.405E-5 41580 0 4.12712E-5
1-6341304-T-C p.Asn291Ser missense ACOT7 2 83122 2.4061E-5 41561 0 3.30147E-5
1-6341309-C-T p.Glu282Lys missense ACOT7 26 83058 3.13034E-4 41529 0 0.00201613
1-6341315-G-C p.Leu280Val missense ACOT7 1 83010 1.20467E-5 41505 0 3.97921E-6
1-6341327-C-T p.Gly276Arg missense ACOT7 1 82702 1.20916E-5 41351 0 1.19439E-5
1-6341328-G-A p.Ser283Leu missense ACOT7 8 82706 9.67282E-5 41353 0 5.04541E-4
1-6341341-C-T p.Val279Ile missense ACOT7 2 82264 2.4312E-5 41132 0 6.37308E-5
1-6341342-G-A p.Arg271Cys missense ACOT7 4 82116 4.87116E-5 41058 0 1.65519E-5
1-6341346-C-CCTTTT c.830-1_830insAAAAG splice_acceptor ACOT7 8 82010 9.75491E-5 41005 4 NA
1-6341352-G-A c.830-6C>T splice_region ACOT7 1 81802 1.22246E-5 40901 0 NA
1-6342777-T-C c.806+7A>G splice_region ACOT7 1 74664 1.33933E-5 37332 0 2.01337E-5
1-6342793-T-C p.Lys266Arg missense ACOT7 1 75436 1.32563E-5 37718 0 NA
1-6342795-C-T p.Thr265Thr synonymous ACOT7 682 75444 0.00903982 37722 10 0.009375
1-6342798-G-A p.Gly264Gly synonymous ACOT7 1 75598 1.32279E-5 37799 0 6.70241E-6
1-6342802-G-C p.Thr263Ser missense ACOT7 2 75640 2.6441E-5 37820 0 1.27332E-4
1-6342805-C-T p.Ser262Asn missense ACOT7 1 75664 1.32163E-5 37832 0 NA
1-6342814-G-A p.Ser259Phe missense ACOT7 1 75830 1.31874E-5 37915 0 NA
1-6342825-T-C p.Thr255Thr synonymous ACOT7 1 75944 1.31676E-5 37972 0 NA
1-6342852-G-A p.His246His synonymous ACOT7 3 76044 3.94508E-5 38022 0 6.15915E-5
1-6342856-G-A p.Ala245Val missense+splice_region ACOT7 2 76024 2.63075E-5 38012 0 6.16523E-5
1-6342860-T-C c.734-4A>G splice_region ACOT7 39 76036 5.12915E-4 38018 0 0.00120996
1-6342941-C-A p.Ter247Tyrext*? stop_lost ACOT7 2 74102 2.69898E-5 37051 0 3.18532E-5
1-6342946-G-C p.Pro246Ala missense+splice_region ACOT7 1 73738 1.35615E-5 36869 0 6.70331E-5
1-6342952-G-C c.734-4C>G splice_region ACOT7 3 73156 4.10083E-5 36578 0 3.18451E-5
1-6342953-A-C c.734-5T>G splice_region ACOT7 1 73038 1.36915E-5 36519 0 NA
1-6354923-C-T c.829+1G>A splice_donor ACOT7 2 83054 2.40807E-5 41527 0 3.1841E-5
1-6354954-C-T p.Ala267Thr missense ACOT7 1 83186 1.20213E-5 41593 0 3.97776E-6
1-6354955-G-A p.Asp266Asp synonymous ACOT7 900 83190 0.0108186 41595 44 0.0256018
1-6354973-G-A p.Ile260Ile synonymous ACOT7 11 83222 1.32177E-4 41611 0 1.15359E-4
1-6354979-G-A p.Thr258Thr synonymous ACOT7 1 83238 1.20137E-5 41619 0 NA
1-6354984-T-C p.Lys257Glu missense ACOT7 1 83230 1.20149E-5 41615 0 NA
1-6354985-G-A p.Cys256Cys synonymous ACOT7 1 83222 1.20161E-5 41611 0 NA
1-6354993-G-A p.Arg254Cys missense ACOT7 1 83192 1.20204E-5 41596 0 1.59184E-5
1-6355009-G-A p.Ala248Ala synonymous ACOT7 2 83204 2.40373E-5 41602 0 1.27405E-4
1-6355012-G-A p.Val247Val synonymous ACOT7 2 83176 2.40454E-5 41588 0 1.19388E-5
1-6355015-C-T p.Glu246Glu synonymous ACOT7 11 83170 1.32259E-4 41585 0 0.00100705
1-6355018-A-G p.Asp245Asp synonymous ACOT7 8 83152 9.62094E-5 41576 0 0.0020141
1-6355031-A-G p.Met241Thr missense ACOT7 2 83080 2.40732E-5 41540 0 8.28185E-6
1-6355042-T-TCCGTGCACAAAGCCGTGCAGGGTGCAGTCTGAAGGCCCCACCAGGTGGATCAA c.713-3_713-2insTTGATCCACCTGGTGGGGCCTTCAGACTGCACCCTGCACGGCTTTGTGCACGG splice_region ACOT7 1 82974 1.2052E-5 41487 0 NA
1-6355045-GGAGAAAGGGACA-G c.713-17_713-6delTGTCCCTTTCTC splice_region ACOT7 1 82922 1.20595E-5 41461 0 NA
1-6355045-G-A c.713-5C>T splice_region ACOT7 3 82922 3.61786E-5 41461 0 6.37064E-5
1-6366175-T-C c.*748A>G splice_region ACOT7 28 20776 0.00134771 10388 0 0.00530434
1-6366936-ACTC-A p.Gly219del disruptive_inframe_deletion ACOT7 1 32666 3.06129E-5 16333 0 NA
1-6378544-C-T c.712+8G>A splice_region ACOT7 1 82706 1.2091E-5 41353 0 2.70964E-5
1-6378547-C-G c.712+5G>C splice_region ACOT7 3 82746 3.62555E-5 41373 0 3.18471E-5
1-6378548-T-C c.712+4A>G splice_region ACOT7 4 82754 4.8336E-5 41377 0 4.45998E-5
1-6378556-G-A p.His236His synonymous ACOT7 9 82826 1.08662E-4 41413 0 6.25E-4
1-6378565-G-A p.Gly233Gly synonymous ACOT7 1 82952 1.20552E-5 41476 0 NA
1-6378607-G-A p.Ser219Ser synonymous ACOT7 136 83118 0.00163623 41559 0 0.00366149
1-6378630-T-C p.Thr212Ala missense ACOT7 1 83072 1.20378E-5 41536 0 NA
1-6378634-C-T p.Pro210Pro synonymous ACOT7 2 83010 2.40935E-5 41505 0 3.43136E-5
1-6378637-C-T p.Glu209Glu splice_region+synonymous ACOT7 1 83030 1.20438E-5 41515 0 NA
1-6387380-C-T p.Val202Ile missense ACOT7 2 83022 2.409E-5 41511 0 3.18715E-5
1-6387381-G-A p.Ile201Ile synonymous ACOT7 1 83040 1.20424E-5 41520 0 NA
1-6387386-C-T p.Asp200Asn missense ACOT7 1 83074 1.20375E-5 41537 0 3.9794E-6
1-6387388-C-T p.Gly199Glu missense ACOT7 1 83080 1.20366E-5 41540 0 7.95792E-6
1-6387390-G-A p.Asn198Asn synonymous ACOT7 5 83056 6.02003E-5 41528 0 3.18674E-5
1-6387402-G-A p.Thr194Thr synonymous ACOT7 2 83112 2.40639E-5 41556 0 NA
1-6387432-A-G p.Tyr184Tyr synonymous ACOT7 1 83160 1.2025E-5 41580 0 3.97782E-6
1-6387435-C-T p.Arg183Arg synonymous ACOT7 7 83164 8.4171E-5 41582 0 3.18593E-5
1-6387435-C-A p.Arg183Arg synonymous ACOT7 1 83164 1.20244E-5 41582 0 1.91156E-4
1-6387438-C-T p.Lys182Lys synonymous ACOT7 1 83168 1.20239E-5 41584 0 NA
1-6387443-G-A p.Arg181Trp missense ACOT7 1 83136 1.20285E-5 41568 0 NA
1-6387450-C-G p.Glu178Asp missense ACOT7 6 83164 7.21466E-5 41582 0 6.76455E-5
1-6387450-C-T p.Glu178Glu synonymous ACOT7 2 83164 2.40489E-5 41582 0 1.19374E-5
1-6387459-C-A p.Glu175Asp missense ACOT7 7 83104 8.42318E-5 41552 1 4.1625E-5
1-6387466-C-A p.Arg173Leu missense ACOT7 2 83090 2.40703E-5 41545 0 NA
1-6387467-G-A p.Arg173Trp missense ACOT7 2 83096 2.40685E-5 41548 0 1.67771E-5
1-6387474-C-CACAACAGGAGGCACCTCGAGGACCT c.511-2_511-1insAGGTCCTCGAGGTGCCTCCTGTTGT splice_acceptor ACOT7 2 83064 2.40778E-5 41532 1 NA
1-6387474-C-CACAACAGGAGGCACCTCGAGGACCTTGTCCACA c.511-2_511-1insTGTGGACAAGGTCCTCGAGGTGCCTCCTGTTGT splice_acceptor ACOT7 2 83064 2.40778E-5 41532 1 NA
1-6387478-G-C c.511-5C>G splice_region ACOT7 2 82992 2.40987E-5 41496 0 2.56634E-5
1-6387478-G-A c.511-5C>T splice_region ACOT7 1 82992 1.20494E-5 41496 0 3.98737E-6
1-6393529-C-T c.510+8G>A splice_region ACOT7 21 82978 2.53079E-4 41489 0 3.1837E-4
1-6393562-T-C p.Lys162Arg missense ACOT7 1 83268 1.20094E-5 41634 0 1.98828E-5
1-6393573-C-A p.Lys158Asn missense ACOT7 1 83286 1.20068E-5 41643 0 3.1841E-5
1-6393579-C-T p.Ser156Ser synonymous ACOT7 1 83278 1.2008E-5 41639 0 8.24294E-5
1-6393612-G-A p.Thr145Thr synonymous ACOT7 2 83200 2.40385E-5 41600 0 8.24647E-6
1-6393627-A-T p.Gly140Gly splice_region+synonymous ACOT7 1 83098 1.2034E-5 41549 0 NA
1-6393631-T-C c.419-3A>G splice_region ACOT7 1 83078 1.20369E-5 41539 0 NA
1-6393636-G-T c.419-8C>A splice_region ACOT7 2 83028 2.40883E-5 41514 0 3.1841E-5
1-6399487-A-C c.418+6T>G splice_region ACOT7 1 82474 1.2125E-5 41237 0 NA
1-6399493-C-A p.Gly140Cys missense+splice_region ACOT7 1 82598 1.21068E-5 41299 0 NA
1-6399497-G-A p.Leu138Leu synonymous ACOT7 1 82682 1.20945E-5 41341 0 8.29187E-6
1-6399509-G-A p.Ser134Ser synonymous ACOT7 3 82748 3.62547E-5 41374 0 9.94481E-5
1-6399525-T-C p.Gln129Arg missense ACOT7 1 82852 1.20697E-5 41426 0 NA
1-6399527-C-T p.Val128Val synonymous ACOT7 40 82822 4.82963E-4 41411 0 0.00259286
1-6399548-G-A p.Thr121Thr synonymous ACOT7 1 82860 1.20685E-5 41430 0 3.97988E-6
1-6399560-C-T p.Glu117Glu synonymous ACOT7 2 82810 2.41517E-5 41405 0 NA
1-6399563-C-T p.Ala116Ala synonymous ACOT7 1 82760 1.20831E-5 41380 0 4.97446E-5
1-6399565-C-A p.Ala116Ser missense ACOT7 2 82746 2.41704E-5 41373 0 1.19433E-5
1-6399566-G-A p.Ser115Ser synonymous ACOT7 7 82736 8.46065E-5 41368 0 5.03525E-4
1-6399575-C-A p.Ala112Ala synonymous ACOT7 8 82666 9.6775E-5 41333 0 7.96413E-6
1-6399586-C-T p.Gly109Ser missense ACOT7 3 82664 3.62915E-5 41332 0 3.98235E-6
1-6399586-C-G p.Gly109Arg missense ACOT7 3 82664 3.62915E-5 41332 0 3.98235E-6
1-6399604-G-T p.Leu103Met missense ACOT7 1 82524 1.21177E-5 41262 0 NA
1-6399605-G-A p.Phe102Phe synonymous ACOT7 18 82510 2.18155E-4 41255 0 0.001875
1-6399616-G-A p.Arg99Cys missense ACOT7 2 82032 2.43807E-5 41016 0 4.78675E-5
1-6399620-G-A c.-25C>T 5_prime_UTR_premature_start_codon_gain ACOT7 3 82056 3.65604E-5 41028 0 3.19183E-5
1-6399634-C-T p.Ala93Thr missense ACOT7 1 81808 1.22237E-5 40904 0 8.38209E-6
1-6399635-G-A c.-40C>T 5_prime_UTR_premature_start_codon_gain ACOT7 2 81784 2.44547E-5 40892 0 5.03086E-5
1-6399645-C-T p.Arg89His missense ACOT7 2 81444 2.45567E-5 40722 0 1.19976E-5
1-6399650-C-CCCGTTCTGGCTGTTGCAATGCCGGGTGCTGATGA c.262-2_262-1insTCATCAGCACCCGGCATTGCAACAGCCAGAACGG splice_acceptor ACOT7 2 81368 2.45797E-5 40684 1 NA
1-6409801-A-T c.261+8T>A splice_region ACOT7 1 78120 1.28008E-5 39060 0 NA
1-6409811-C-T p.Gly87Arg missense+splice_region ACOT7 1 78580 1.27259E-5 39290 0 2.42369E-5
1-6409812-G-A p.Asn86Asn synonymous ACOT7 3 78612 3.81621E-5 39306 0 3.18613E-5
1-6409812-G-T p.Asn86Lys missense ACOT7 1 78614 1.27204E-5 39307 0 1.04943E-5
1-6409830-C-T p.Arg80Arg synonymous ACOT7 1 79014 1.2656E-5 39507 0 9.03179E-6
1-6409831-C-T p.Arg80Gln missense ACOT7 1 79020 1.2655E-5 39510 0 NA
1-6409847-C-T p.Ala75Thr missense ACOT7 3 79070 3.79411E-5 39535 0 3.18654E-5
1-6409848-G-A p.Gly74Gly synonymous ACOT7 2 79092 2.5287E-5 39546 0 0.00201816
1-6409860-G-A p.Ile70Ile synonymous ACOT7 1 78830 1.26855E-5 39415 0 3.37735E-5
1-6409862-TCATCTTCAGGATGGTCCCCCCGTGGACATTGCCGGCCACGTTGG-T p.Ala55fs frameshift ACOT7 1 78870 1.26791E-5 39435 0 NA
1-6409872-G-A p.Ile66Ile synonymous ACOT7 1 78608 1.27214E-5 39304 0 NA
1-6409879-C-G p.Gly64Ala missense ACOT7 1 78326 1.27672E-5 39163 0 NA
1-6409884-G-A p.His62His synonymous ACOT7 7 78100 8.96287E-5 39050 0 4.06524E-4
1-6409890-A-G p.Asn60Asn synonymous ACOT7 1 77836 1.28475E-5 38918 0 8.33069E-6
1-6409896-G-A p.Ala58Ala synonymous ACOT7 145 77300 0.00187581 38650 0 0.00404562
1-6409901-C-T p.Val57Met missense ACOT7 3 76898 3.90127E-5 38449 0 6.36821E-5
1-6409902-G-A p.Asn56Asn synonymous ACOT7 2 76794 2.60437E-5 38397 0 4.38589E-5
1-6409903-T-C p.Asn56Ser missense ACOT7 1 76804 1.30202E-5 38402 0 NA
1-6409915-G-A p.Pro52Leu missense ACOT7 1 75812 1.31905E-5 37906 0 NA
1-6418878-G-A c.20+8C>T splice_region ACOT7 3 81940 3.66122E-5 40970 0 5.582E-5
1-6418878-G-T c.20+8C>A splice_region ACOT7 1 81940 1.22041E-5 40970 0 7.97429E-6
1-6418882-G-A c.20+4C>T splice_region ACOT7 521 81940 0.00635831 40970 13 0.0150666
1-6418883-T-TCTTTTTATCCCAGCTTCGGCTGACC c.20+2_20+3insGGTCAGCCGAAGCTGGGATAAAAAG splice_donor ACOT7 1 81948 1.22029E-5 40974 0 NA
1-6418896-G-A p.Gln4* stop_gained ACOT7 3 81954 3.66059E-5 40977 0 1.68449E-5
1-6418930-G-C c.-25C>G 5_prime_UTR_premature_start_codon_gain ACOT7 2 81816 2.44451E-5 40908 0 3.59686E-5
1-6418945-G-A c.-40C>T 5_prime_UTR_premature_start_codon_gain ACOT7 5 81408 6.1419E-5 40704 0 6.01819E-5
1-6419007-C-T c.-102G>A 5_prime_UTR_premature_start_codon_gain ACOT7 86 77894 0.00110406 38947 1 0.0022946
1-6419010-C-A c.-105G>T 5_prime_UTR_premature_start_codon_gain ACOT7 4 77310 5.17397E-5 38655 0 6.25E-4
1-6419011-G-A c.-106C>T 5_prime_UTR_premature_start_codon_gain ACOT7 2 77246 2.58913E-5 38623 0 NA
1-6419033-C-A c.-128G>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 75018 1.33301E-5 37509 0 6.37389E-5
1-6419041-G-A c.-136C>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 74450 1.34318E-5 37225 0 NA
1-6419095-G-A c.-190C>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 62664 1.59581E-5 31332 0 3.18573E-5
1-6419109-G-A c.-204C>T 5_prime_UTR_premature_start_codon_gain ACOT7 7 58234 1.20205E-4 29117 0 6.36943E-5
1-6419218-G-A c.-313C>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 13224 7.56201E-5 6612 0 6.37064E-5
1-6419232-G-A c.-327C>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 11302 8.84799E-5 5651 0 6.36943E-5
1-6420628-ACT-A p.Gln28fs frameshift ACOT7 1 83168 1.20239E-5 41584 0 NA
1-6420632-T-C p.Lys27Lys splice_region+synonymous ACOT7 1 83196 1.20198E-5 41598 0 8.24239E-6
1-6420641-C-G p.Glu24Asp missense ACOT7 1 83220 1.20163E-5 41610 0 NA
1-6420647-A-T p.Phe22Leu missense ACOT7 2 83236 2.40281E-5 41618 0 1.6484E-5
1-6420661-C-A p.Asp18Tyr missense ACOT7 75 83250 9.00901E-4 41625 0 7.00458E-4
1-6420662-G-A p.Val17Val synonymous ACOT7 2 83256 2.40223E-5 41628 0 6.36983E-5
1-6420663-ACTTCCTTTCTGAGGACGTTTAGTGACAAGCTTCTCCGAAGCAGGAGCATCGTCTCCCCACGTCTCCTGTCGG-A p.Met1_Val17del start_lost ACOT7 1 83256 1.20111E-5 41628 0 NA
1-6420664-C-T p.Val17Ile missense ACOT7 1 83260 1.20106E-5 41630 0 NA
1-6420679-C-G p.Val12Leu missense ACOT7 1 83224 1.20158E-5 41612 0 3.97671E-6
1-6420679-C-T p.Val12Ile missense ACOT7 3 83224 3.60473E-5 41612 0 0.00100705
1-6420680-G-A p.Asn11Asn synonymous ACOT7 3 83224 3.60473E-5 41612 0 7.95374E-6
1-6420691-A-G p.Leu8Leu synonymous ACOT7 1 83188 1.2021E-5 41594 0 NA
1-6420700-G-A p.Arg5Trp missense ACOT7 4 83136 4.81139E-5 41568 0 2.78388E-5
1-6420702-A-T p.Leu4His missense ACOT7 3 83132 3.60872E-5 41566 0 3.97693E-6
1-6420702-A-G p.Leu4Pro missense ACOT7 2 83132 2.40581E-5 41566 0 NA
1-6420707-G-A p.Leu2Leu synonymous ACOT7 2 83096 2.40685E-5 41548 0 2.47296E-5
1-6420723-C-A c.-11G>T 5_prime_UTR_premature_start_codon_gain ACOT7 2 82962 2.41074E-5 41481 0 8.25096E-6
1-6420723-C-T c.-11G>A 5_prime_UTR_premature_start_codon_gain ACOT7 1 82962 1.20537E-5 41481 0 2.38669E-5
1-6420724-G-A c.-12C>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 82958 1.20543E-5 41479 0 3.58007E-5
1-6420734-G-A c.-22C>T 5_prime_UTR_premature_start_codon_gain ACOT7 5 82908 6.03078E-5 41454 0 1.98935E-5
1-6445557-C-T p.Gly57Glu missense ACOT7 2 82872 2.41336E-5 41436 0 3.19448E-5
1-6445558-C-T p.Gly57Arg missense ACOT7 3 82884 3.61952E-5 41442 0 1.67045E-5
1-6445562-A-G p.Ile55Ile synonymous ACOT7 111 82848 0.0013398 41424 0 0.00125
1-6445570-C-T p.Ala53Thr missense ACOT7 1 82856 1.20691E-5 41428 0 1.20708E-5
1-6445585-G-A p.Leu48Phe missense ACOT7 2 82758 2.41668E-5 41379 0 NA
1-6445596-G-C p.Pro44Arg missense ACOT7 3 82766 3.62468E-5 41383 0 3.19939E-5
1-6445606-C-T p.Val41Met missense ACOT7 5 82732 6.04361E-5 41366 0 1.65396E-5
1-6445608-T-C p.Gln40Arg missense ACOT7 1 82718 1.20893E-5 41359 0 NA
1-6445612-C-T p.Val39Ile missense ACOT7 4 82722 4.83547E-5 41361 0 3.99872E-5
1-6445613-G-A p.Pro38Pro synonymous ACOT7 2 82722 2.41774E-5 41361 0 3.30846E-5
1-6445618-C-T p.Ala37Thr missense ACOT7 9 82658 1.08882E-4 41329 0 0.00151057
1-6445627-C-A p.Gly34Trp missense ACOT7 1 82760 1.20831E-5 41380 0 NA
1-6445628-T-C p.Arg33Arg synonymous ACOT7 9 82742 1.08772E-4 41371 0 8.28157E-6
1-6445629-C-T p.Arg33Gln missense ACOT7 1 82754 1.2084E-5 41377 0 3.31312E-5
1-6445630-G-A p.Arg33* stop_gained ACOT7 1 82718 1.20893E-5 41359 0 8.28281E-6
1-6445632-C-T p.Arg32Gln missense ACOT7 3 82762 3.62485E-5 41381 0 5.19967E-5
1-6445632-CG-C p.Arg32fs frameshift ACOT7 1 82762 1.20828E-5 41381 0 NA
1-6445633-G-A p.Arg32Trp missense ACOT7 2 82768 2.41639E-5 41384 0 1.65706E-5
1-6445639-C-T p.Gly30Arg missense ACOT7 1 82820 1.20744E-5 41410 0 2.4867E-5
1-6445646-T-A p.Gly27Gly synonymous ACOT7 1 82784 1.20796E-5 41392 0 8.29421E-6
1-6445652-G-A p.Gly25Gly synonymous ACOT7 2 82836 2.41441E-5 41418 0 3.19898E-5
1-6445678-C-T p.Ala17Thr missense ACOT7 1 82974 1.2052E-5 41487 0 8.32778E-6
1-6445688-A-T p.Phe13Leu missense ACOT7 1 82952 1.20552E-5 41476 0 NA
1-6445691-C-G p.Glu12Asp missense ACOT7 1 82948 1.20557E-5 41474 0 6.25E-4
1-6445697-G-C p.Leu10Leu synonymous ACOT7 1 82938 1.20572E-5 41469 0 3.99818E-6
1-6445697-G-A p.Leu10Leu synonymous ACOT7 1 82938 1.20572E-5 41469 0 NA
1-6445701-C-T p.Arg9Gln missense ACOT7 1 82930 1.20584E-5 41465 0 2.39931E-5
1-6445702-G-A p.Arg9Trp missense ACOT7 6 82912 7.23659E-5 41456 0 3.20123E-5
1-6445705-G-T p.Leu8Ile missense ACOT7 2 82904 2.41243E-5 41452 0 NA
1-6445712-G-A p.Ala5Ala synonymous ACOT7 1 82830 1.20729E-5 41415 0 NA
1-6445713-G-A p.Ala5Val missense ACOT7 1 82776 1.20808E-5 41388 0 NA
1-6445725-A-C p.Met1? start_lost ACOT7 1 82654 1.20986E-5 41327 0 NA
1-6445732-G-A c.-6C>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 82482 1.21239E-5 41241 0 1.21607E-5
1-6445805-G-A c.-79C>T 5_prime_UTR_premature_start_codon_gain ACOT7 17 78398 2.16842E-4 39199 1 0.00125471
1-6445821-G-A c.-95C>T 5_prime_UTR_premature_start_codon_gain ACOT7 7 76904 9.10226E-5 38452 0 6.54236E-5
1-6445839-T-C c.-113A>G 5_prime_UTR_premature_start_codon_gain ACOT7 1 75046 1.33252E-5 37523 0 NA
1-6453317-C-T p.Arg48Gln missense+splice_region ACOT7 1 32278 3.09809E-5 16139 0 1.9188E-5
1-6453344-T-C p.Glu39Gly missense ACOT7 4 32436 1.2332E-4 16218 0 3.96652E-5
1-6453368-G-T p.Pro31His missense ACOT7 1 32660 3.06185E-5 16330 0 6.99203E-5
1-6453369-G-A p.Pro31Ser missense ACOT7 1 32676 3.06035E-5 16338 0 NA
1-6453369-G-C p.Pro31Ala missense ACOT7 1 32676 3.06035E-5 16338 0 2.44248E-5
1-6453378-C-A p.Ala28Ser missense ACOT7 1 32460 3.08071E-5 16230 0 NA
1-6453383-G-A p.Ser26Phe missense ACOT7 1 32376 3.08871E-5 16188 0 5.29101E-4
1-6453387-C-T p.Ala25Thr missense ACOT7 6 32162 1.86556E-4 16081 0 1.00617E-4
1-6453388-G-T p.Ala24Ala synonymous ACOT7 2 32190 6.21311E-5 16095 0 1.00073E-4
1-6453388-G-A c.-25C>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 32190 3.10655E-5 16095 0 NA
1-6453408-C-G p.Ala18Pro missense ACOT7 1 31462 3.17844E-5 15731 0 8.66701E-5
1-6453419-G-A p.Pro14Leu missense ACOT7 1 31458 3.17884E-5 15729 0 3.31543E-5
1-6453423-G-A c.-157C>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 31438 3.18086E-5 15719 0 NA
1-6453428-G-C p.Pro11Arg missense ACOT7 1 31302 3.19468E-5 15651 0 NA
1-6453429-G-C p.Pro11Ala missense ACOT7 1 31318 3.19305E-5 15659 0 NA
1-6453431-G-C p.Ala10Gly missense ACOT7 3 31300 9.58466E-5 15650 0 NA
1-6453434-G-A p.Ser9Phe missense ACOT7 5 31348 1.595E-4 15674 0 1.64658E-4
1-6453441-T-A p.Ile7Phe missense ACOT7 1 31212 3.2039E-5 15606 0 3.2975E-5
1-6453445-C-T p.Gly5Gly synonymous ACOT7 1 31142 3.2111E-5 15571 0 3.28062E-5
1-6453461-A-C c.-2T>G 5_prime_UTR_premature_start_codon_gain ACOT7 1 31140 3.2113E-5 15570 0 NA
1-6453506-C-A c.-47G>T 5_prime_UTR_premature_start_codon_gain ACOT7 4 29702 1.34671E-4 14851 0 3.57143E-4
1-6453562-G-A c.-103C>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 27992 3.57245E-5 13996 0 NA
1-6453588-G-A c.-129C>T 5_prime_UTR_premature_start_codon_gain ACOT7 2 26212 7.63009E-5 13106 0 NA
1-6453707-C-A c.-248G>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 10074 9.92654E-5 5037 0 NA
1-6453783-G-A c.-324C>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 3558 2.81057E-4 1779 0 5.4275E-4
1-6454202-C-A c.-743G>T 5_prime_UTR_premature_start_codon_gain ACOT7 1 154 0.00649351 77 0 NA
1-6454276-G-A c.-817C>T 5_prime_UTR_premature_start_codon_gain ACOT7 3 160 0.01875 80 0 0.00465146