Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-74003889-T-C c.-237T>C 5_prime_UTR_premature_start_codon_gain ACOT1 1 24608 4.06372E-5 12304 0 4.42126E-5
14-74004001-A-G c.-125A>G 5_prime_UTR_premature_start_codon_gain ACOT1 4 52216 7.66049E-5 26108 1 NA
14-74004030-A-G c.-96A>G 5_prime_UTR_premature_start_codon_gain ACOT1 2 54314 3.68229E-5 27157 1 NA
14-74004059-T-C c.-67T>C 5_prime_UTR_premature_start_codon_gain ACOT1 4 55730 7.17746E-5 27865 1 4.34292E-5
14-74004130-C-G p.Ala2Gly missense ACOT1 15 57938 2.58897E-4 28969 4 0.00217077
14-74004141-A-G p.Ile6Val missense ACOT1 1 57880 1.72771E-5 28940 0 3.36022E-4
14-74004152-C-T p.Pro9Pro synonymous ACOT1 14 57488 2.43529E-4 28744 4 0.00657895
14-74004170-G-C p.Trp15Cys missense ACOT1 1 56668 1.76466E-5 28334 0 7.84991E-5
14-74004174-G-T p.Glu17* stop_gained ACOT1 1 56250 1.77778E-5 28125 0 2.59965E-4
14-74004174-G-A p.Glu17Lys missense ACOT1 1 56252 1.77771E-5 28126 0 NA
14-74004194-G-A p.Val23Val synonymous ACOT1 3 54508 5.50378E-5 27254 1 8.69187E-5
14-74004199-G-C p.Gly25Ala missense ACOT1 2 54378 3.67796E-5 27189 1 NA
14-74004200-C-T p.Gly25Gly synonymous ACOT1 2 54392 3.67701E-5 27196 0 4.33163E-5
14-74004208-C-G p.Pro28Arg missense ACOT1 100 53786 0.00185922 26893 22 0.00772798
14-74004210-G-A p.Glu29Lys missense ACOT1 384 53856 0.00713012 26928 111 0.00586432
14-74004246-G-T p.Glu41* stop_gained ACOT1 1 53430 1.87161E-5 26715 0 9.4602E-6
14-74004255-G-A p.Ala44Thr missense ACOT1 2 53178 3.76095E-5 26589 1 NA
14-74004275-G-A p.Ala50Ala synonymous ACOT1 110 53314 0.00206325 26657 34 0.00520833
14-74004282-C-A p.Arg53Ser missense ACOT1 2 54004 3.70343E-5 27002 1 NA
14-74004293-C-T p.Thr56Thr synonymous ACOT1 62 54706 0.00113333 27353 12 0.00496417
14-74004300-G-T p.Glu59* stop_gained ACOT1 1 55000 1.81818E-5 27500 0 1.58398E-5
14-74004319-C-A p.Ala65Glu missense ACOT1 1 55640 1.79727E-5 27820 0 8.67152E-5
14-74004324-G-C p.Ala67Pro missense ACOT1 2 55988 3.57219E-5 27994 0 1.59612E-4
14-74004326-G-T p.Ala67Ala synonymous ACOT1 2 56184 3.55973E-5 28092 0 6.29564E-5
14-74004332-C-T p.Gly69Gly synonymous ACOT1 3 56490 5.31067E-5 28245 1 1.59373E-5
14-74004335-C-G p.Gly70Gly synonymous ACOT1 2 56614 3.53269E-5 28307 1 NA
14-74004338-C-G p.Ser71Arg missense ACOT1 1 56800 1.76056E-5 28400 0 8.64304E-5
14-74004344-G-T p.Ala73Ala synonymous ACOT1 51 57150 8.92388E-4 28575 18 0.00102564
14-74004347-G-T p.Gly74Gly synonymous ACOT1 1 57258 1.74648E-5 28629 0 NA
14-74004358-T-TG p.Leu80fs frameshift ACOT1 4 57720 6.93001E-5 28860 0 7.90764E-4
14-74004374-C-T p.Ala83Ala synonymous ACOT1 3 58376 5.1391E-5 29188 1 NA
14-74004380-G-A p.Glu85Glu synonymous ACOT1 22 58532 3.75863E-4 29266 3 0.00108338
14-74004380-G-T p.Glu85Asp missense ACOT1 3 58530 5.12558E-5 29265 1 NA
14-74004384-G-A p.Glu87Lys missense ACOT1 3 58718 5.10917E-5 29359 1 1.26208E-5
14-74004386-G-C p.Glu87Asp missense ACOT1 2 58806 3.40101E-5 29403 1 NA
14-74004390-C-T p.Pro89Ser missense ACOT1 78 58854 0.00132531 29427 26 9.86152E-4
14-74004392-C-T p.Pro89Pro synonymous ACOT1 5 58612 8.53068E-5 29306 1 0.0181564
14-74004393-T-C p.Leu90Leu synonymous ACOT1 2 58900 3.39559E-5 29450 1 1.23078E-5
14-74004400-G-C p.Arg92Pro missense ACOT1 2 58906 3.39524E-5 29453 1 NA
14-74004410-GC-G p.Arg96fs frameshift ACOT1 2 58410 3.42407E-5 29205 1 NA
14-74004421-G-A p.Arg99Gln missense ACOT1 3 58666 5.11369E-5 29333 1 3.25848E-5
14-74004427-C-T p.Pro101Leu missense ACOT1 4 58788 6.80411E-5 29394 1 1.57686E-4
14-74004428-C-T p.Pro101Pro synonymous ACOT1 5 58850 8.49618E-5 29425 1 1.77321E-4
14-74004440-G-A p.Glu105Glu synonymous ACOT1 38 58932 6.44811E-4 29466 10 0.00270636
14-74004447-G-A p.Val108Met missense ACOT1 20 58926 3.39409E-4 29463 7 1.3292E-4
14-74004452-G-A p.Leu109Leu synonymous ACOT1 1 58892 1.69802E-5 29446 0 NA
14-74004489-C-G p.Arg122Gly missense ACOT1 2 58236 3.4343E-5 29118 1 NA
14-74004490-G-A p.Arg122Gln missense ACOT1 2 58254 3.43324E-5 29127 1 4.43931E-5
14-74004506-CT-C p.Tyr128fs frameshift ACOT1 14 57772 2.42332E-4 28886 5 6.23164E-4
14-74004508-A-G p.Tyr128Cys missense ACOT1 73 57764 0.00126376 28882 23 0.00136054
14-74004517-C-T p.Pro131Leu missense ACOT1 539 57580 0.00936089 28790 136 0.019918
14-74004518-G-A p.Pro131Pro synonymous ACOT1 4 57522 6.95386E-5 28761 2 4.31034E-5
14-74004520-C-T p.Pro132Leu missense ACOT1 1 57558 1.73738E-5 28779 0 NA
14-74004531-C-A p.Arg136Ser missense ACOT1 2 57290 3.49101E-5 28645 0 2.90754E-5
14-74004532-G-A p.Arg136His missense ACOT1 1 57390 1.74246E-5 28695 0 8.95335E-5
14-74004539-G-A p.Pro138Pro synonymous ACOT1 3 58564 5.1226E-5 29282 1 NA
14-74004547-C-T p.Ala141Val missense ACOT1 85 58154 0.00146164 29077 20 0.0250843
14-74004547-C-G p.Ala141Gly missense ACOT1 2 58476 3.42021E-5 29238 1 NA
14-74004558-C-G p.Arg145Gly missense ACOT1 2 58648 3.41018E-5 29324 0 8.8739E-5
14-74004563-C-CA p.Thr147fs frameshift ACOT1 2 58774 3.40287E-5 29387 1 NA
14-74004566-G-A p.Thr147Thr synonymous ACOT1 2 58794 3.40171E-5 29397 1 4.86732E-5
14-74004568-T-G p.Leu148Arg missense ACOT1 1 58850 1.69924E-5 29425 0 9.95124E-5
14-74004575-G-T p.Leu150Leu synonymous ACOT1 1 58856 1.69906E-5 29428 0 NA
14-74004581-A-G p.Pro152Pro splice_region+synonymous ACOT1 1 58824 1.69999E-5 29412 0 NA
14-74004587-C-G c.457+5C>G splice_region ACOT1 1 58826 1.69993E-5 29413 0 NA
14-74008216-C-G p.Gly159Gly synonymous ACOT1 13 63884 2.03494E-4 31942 5 0.0152318
14-74008246-C-A p.Gly169Gly synonymous ACOT1 1 64394 1.55294E-5 32197 0 NA
14-74008259-C-G p.Arg174Gly missense ACOT1 8 64478 1.24073E-4 32239 4 NA
14-74008297-G-A p.Met186Ile missense ACOT1 5 64562 7.74449E-5 32281 1 1.55138E-4
14-74008299-C-T p.Ala187Val missense ACOT1 7 64540 1.0846E-4 32270 1 1.80457E-4
14-74008302-T-C p.Leu188Pro missense ACOT1 4 64548 6.19694E-5 32274 1 1.08212E-5
14-74008304-G-A p.Ala189Thr missense ACOT1 352 64508 0.00545669 32254 101 0.0115482
14-74008309-C-T p.Tyr190Tyr synonymous ACOT1 908 64070 0.014172 32035 239 0.0352086
14-74008333-G-C p.Lys198Asn missense ACOT1 1 64516 1.55E-5 32258 0 2.70739E-5
14-74008343-AC-A p.Thr202fs frameshift ACOT1 17 64512 2.63517E-4 32256 6 8.42199E-4
14-74008344-C-T p.Thr202Met missense ACOT1 1 64498 1.55044E-5 32249 0 1.51538E-4
14-74008345-G-A p.Thr202Thr synonymous ACOT1 5 64500 7.75194E-5 32250 2 1.08358E-5
14-74008352-C-G p.Leu205Val missense ACOT1 1 64522 1.54986E-5 32261 0 NA
14-74008367-G-A p.Glu210Lys missense ACOT1 1 64476 1.55096E-5 32238 0 NA
14-74008372-T-C p.Ala211Ala synonymous ACOT1 31 64486 4.80724E-4 32243 9 0.00258065
14-74008373-G-A p.Val212Met missense ACOT1 29 64474 4.49794E-4 32237 9 0.00258398
14-74008380-A-C p.Tyr214Ser missense ACOT1 2 64474 3.10203E-5 32237 1 1.08293E-5
14-74008396-T-C p.Pro219Pro synonymous ACOT1 2 64454 3.10299E-5 32227 0 1.08324E-5
14-74008402-G-T c.660+3G>T splice_region ACOT1 1 64434 1.55198E-5 32217 0 1.08353E-5
14-74009746-T-C c.661-8T>C splice_region ACOT1 1 63040 1.58629E-5 31520 0 1.10346E-5
14-74009748-T-C c.661-6T>C splice_region ACOT1 1 63102 1.58474E-5 31551 0 4.38577E-5
14-74009769-GT-G p.Leu228fs frameshift ACOT1 2 65464 3.05511E-5 32732 1 1.00598E-5
14-74009794-G-C p.Gly234Ala missense ACOT1 1 67640 1.47842E-5 33820 0 6.69408E-5
14-74009814-A-T p.Met241Leu missense ACOT1 1 71250 1.40351E-5 35625 0 9.53907E-6
14-74009839-C-T p.Thr249Met missense ACOT1 16 73866 2.16608E-4 36933 0 0.00260655
14-74009846-T-C p.Ala251Ala synonymous ACOT1 7 74364 9.41316E-5 37182 0 9.18764E-5
14-74009850-G-A p.Val253Ile missense ACOT1 1 74506 1.34217E-5 37253 0 3.4343E-5
14-74009889-C-T p.Arg266Cys missense ACOT1 2 76360 2.61917E-5 38180 0 9.0795E-5
14-74009890-G-A p.Arg266His missense ACOT1 30 75492 3.97393E-4 37746 0 0.00781093
14-74009890-G-C p.Arg266Pro missense ACOT1 1 76454 1.30798E-5 38227 0 3.35233E-5
14-74009905-C-A p.Thr271Asn missense ACOT1 1 75230 1.32926E-5 37615 0 NA
14-74009913-C-T p.Pro274Ser missense ACOT1 1 74682 1.33901E-5 37341 0 3.4174E-5
14-74009917-T-C p.Val275Ala missense ACOT1 16 74156 2.15761E-4 37078 0 0.00625782
14-74009920-G-C p.Gly276Ala missense ACOT1 17 73888 2.30078E-4 36944 0 0.00625782
14-74009922-G-A p.Val277Ile missense ACOT1 3 73766 4.06691E-5 36883 0 3.45614E-5
14-74009923-T-G p.Val277Gly missense ACOT1 1 73700 1.35685E-5 36850 0 NA
14-74009928-A-G p.Arg279Gly missense ACOT1 1 73298 1.36429E-5 36649 0 3.47584E-5
14-74009937-A-G p.Ile282Val missense ACOT1 1 71978 1.38931E-5 35989 0 8.34432E-6
14-74010076-A-G p.Asn328Ser missense ACOT1 1 24966 4.00545E-5 12483 0 6.04216E-4
14-74010095-T-C p.Tyr334Tyr synonymous ACOT1 2 24310 8.22707E-5 12155 1 NA
14-74010107-C-A p.Ala338Ala synonymous ACOT1 1 24386 4.10071E-5 12193 0 NA
14-74010115-G-A p.Arg341His missense ACOT1 3 24388 1.23011E-4 12194 0 6.75584E-5
14-74010126-C-CATG p.His345_Gly346insAsp disruptive_inframe_insertion ACOT1 1 25126 3.97994E-5 12563 0 NA
14-74010146-G-C p.Gln351His missense ACOT1 1 26444 3.78158E-5 13222 0 2.90192E-4
14-74010192-T-A p.Phe367Ile missense ACOT1 2 30810 6.4914E-5 15405 1 1.47667E-5
14-74010204-C-T p.Arg371Trp missense ACOT1 1 31610 3.16356E-5 15805 0 NA
14-74010205-G-A p.Arg371Gln missense ACOT1 1 31736 3.151E-5 15868 0 1.79856E-4
14-74010232-G-A p.Ser380Asn missense ACOT1 1 33558 2.97992E-5 16779 0 NA
14-74010237-A-G p.Ile382Val missense ACOT1 7 33566 2.08544E-4 16783 0 3.10688E-4
14-74010329-C-G p.Gly412Gly synonymous ACOT1 504 35064 0.0143737 17532 98 0.0397059
14-74010331-A-G p.His413Arg missense ACOT1 42 35738 0.00117522 17869 7 0.128624