Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-74034387-T-C c.-514T>C 5_prime_UTR_premature_start_codon_gain ACOT2 2 12 0.166667 6 0 3.18837E-5
14-74034619-C-T c.-282C>T 5_prime_UTR_premature_start_codon_gain ACOT2 2 168 0.0119048 84 0 0.0336781
14-74035781-A-T c.-164A>T 5_prime_UTR_premature_start_codon_gain ACOT2 1 69970 1.42918E-5 34985 0 1.27535E-4
14-74035794-A-G c.-151A>G 5_prime_UTR_premature_start_codon_gain ACOT2 2 74080 2.69978E-5 37040 0 NA
14-74035871-C-G c.-74C>G 5_prime_UTR_premature_start_codon_gain ACOT2 1 81890 1.22115E-5 40945 0 NA
14-74035945-A-G p.Met1? start_lost ACOT2 1 83172 1.20233E-5 41586 0 3.98143E-6
14-74035949-C-CT p.Asn3fs frameshift ACOT2 1 83208 1.20181E-5 41604 0 NA
14-74035956-G-A p.Lys4Lys synonymous ACOT2 1 83232 1.20146E-5 41616 0 8.24362E-6
14-74035960-C-T p.Leu6Phe missense ACOT2 11 83234 1.32158E-4 41617 0 4.77521E-4
14-74035987-C-T p.Leu15Phe missense ACOT2 1 83272 1.20088E-5 41636 0 3.97788E-6
14-74036001-C-A p.Phe19Leu missense ACOT2 2 83274 2.40171E-5 41637 0 NA
14-74036006-TG-T p.Ala22fs frameshift ACOT2 2 83294 2.40113E-5 41647 0 1.59093E-5
14-74036006-T-C p.Met21Thr missense ACOT2 1 83294 1.20057E-5 41647 0 1.64756E-5
14-74036007-G-T p.Met21Ile missense ACOT2 19 83290 2.28119E-4 41645 0 0.00100705
14-74036009-C-T p.Ala22Val missense ACOT2 1 83296 1.20054E-5 41648 0 NA
14-74036010-C-G p.Ala22Ala synonymous ACOT2 5 83304 6.00211E-5 41652 0 0.00125
14-74036010-C-T p.Ala22Ala synonymous ACOT2 1 83304 1.20042E-5 41652 0 3.97725E-6
14-74036012-C-T p.Ser23Leu missense ACOT2 1 83304 1.20042E-5 41652 0 3.18756E-5
14-74036021-C-A p.Ala26Asp missense ACOT2 1 83318 1.20022E-5 41659 0 NA
14-74036022-T-C p.Ala26Ala synonymous ACOT2 1 83324 1.20013E-5 41662 0 NA
14-74036025-C-A p.Val27Val synonymous ACOT2 3 83334 3.59997E-5 41667 0 1.98845E-5
14-74036033-C-T p.Ala30Val missense ACOT2 1 83326 1.20011E-5 41663 0 8.23791E-6
14-74036034-G-GGGA p.Ala30_Ser31insGly conservative_inframe_insertion ACOT2 1 83330 1.20005E-5 41665 0 NA
14-74036038-C-T p.Arg32Trp missense ACOT2 1 83338 1.19993E-5 41669 0 8.23791E-6
14-74036050-T-G p.Met1? start_lost ACOT2 2 83348 2.39958E-5 41674 0 6.37511E-5
14-74036069-C-T p.Ala42Val missense ACOT2 1 83324 1.20013E-5 41662 0 8.23805E-6
14-74036101-G-C c.52+1G>C splice_donor ACOT2 1 83318 1.20022E-5 41659 0 3.18695E-5
14-74036104-G-A p.Gly54Ser missense ACOT2 1 83308 1.20036E-5 41654 0 3.97716E-6
14-74036112-C-A p.Ile56Ile synonymous ACOT2 8 83280 9.60615E-5 41640 0 9.56389E-5
14-74036143-C-T p.Leu67Leu synonymous ACOT2 1 83060 1.20395E-5 41530 0 NA
14-74036157-T-C p.Pro71Pro synonymous ACOT2 10 82934 1.20578E-4 41467 0 1.24141E-4
14-74036160-G-A p.Ala72Ala synonymous ACOT2 3 82894 3.61908E-5 41447 1 3.98264E-6
14-74036171-G-A p.Cys76Tyr missense ACOT2 1 82746 1.20852E-5 41373 0 3.98581E-6
14-74036172-C-T p.Cys76Cys synonymous ACOT2 12 82740 1.45033E-4 41370 0 9.56633E-5
14-74036172-C-A p.Cys76* stop_gained ACOT2 1 82740 1.20861E-5 41370 0 3.98676E-6
14-74036176-G-C p.Asp78His missense ACOT2 1 82650 1.20992E-5 41325 0 NA
14-74036178-C-T p.Asp78Asp synonymous ACOT2 1 82564 1.21118E-5 41282 0 3.18857E-5
14-74036185-G-C p.Val81Leu missense ACOT2 2 82350 2.42866E-5 41175 0 3.18918E-5
14-74036197-G-A p.Val85Met missense ACOT2 1 81636 1.22495E-5 40818 0 6.47019E-5
14-74036197-G-C p.Val85Leu missense ACOT2 1 81636 1.22495E-5 40818 0 1.61755E-5
14-74036203-G-A p.Gly87Ser missense ACOT2 2 81416 2.45652E-5 40708 0 4.08847E-6
14-74036206-C-G p.Leu88Val missense ACOT2 14 81298 1.72206E-4 40649 0 5.10139E-4
14-74036207-T-C p.Leu88Pro missense ACOT2 1 81216 1.23128E-5 40608 0 9.90115E-5
14-74036216-A-G p.Glu91Gly missense ACOT2 1592 80464 0.0197852 40232 38 0.0339965
14-74036222-C-A p.Pro93Gln missense ACOT2 4 80354 4.97797E-5 40177 0 4.21706E-5
14-74036227-A-G p.Thr95Ala missense ACOT2 3 80002 3.74991E-5 40001 0 5.19751E-4
14-74036249-A-C p.Asp102Ala missense ACOT2 1 78184 1.27903E-5 39092 0 NA
14-74036255-A-G p.Lys104Arg missense ACOT2 248 77874 0.00318463 38937 0 0.00660371
14-74036261-C-A p.Ala106Glu missense ACOT2 4 76896 5.20183E-5 38448 0 2.47463E-4
14-74036271-G-A p.Gln109Gln synonymous ACOT2 2 76390 2.61814E-5 38195 0 NA
14-74036273-C-A p.Ala110Asp missense ACOT2 3 76090 3.9427E-5 38045 0 0.00107066
14-74036276-A-G p.His111Arg missense ACOT2 1 75946 1.31673E-5 37973 0 6.38203E-5
14-74036290-G-A p.Ala116Thr missense ACOT2 1 75194 1.32989E-5 37597 0 NA
14-74036294-A-G p.Asp117Gly missense ACOT2 1 75730 1.32048E-5 37865 0 1.15869E-5
14-74036298-T-C p.Thr118Thr synonymous ACOT2 19 75986 2.50046E-4 37993 0 8.29823E-4
14-74036301-T-A p.Leu119Leu synonymous ACOT2 2 75962 2.6329E-5 37981 0 NA
14-74036305-G-T p.Glu121* stop_gained ACOT2 3 75836 3.9559E-5 37918 0 1.15953E-5
14-74036341-A-G p.Ser133Gly missense ACOT2 1 76644 1.30473E-5 38322 0 4.41497E-6
14-74036342-G-C p.Ser133Thr missense ACOT2 8 76716 1.04281E-4 38358 1 9.56694E-5
14-74036347-G-A p.Ala135Thr missense ACOT2 1 76784 1.30235E-5 38392 0 NA
14-74036348-CGGGGCTTGAGCCCATGGGGCTGCTCT-C p.Glu138fs frameshift ACOT2 1 76836 1.30147E-5 38418 0 3.51565E-5
14-74036354-T-A p.Leu137His missense ACOT2 4 76922 5.20007E-5 38461 0 4.34601E-6
14-74036358-G-T p.Glu138Asp missense ACOT2 9 76920 1.17005E-4 38460 2 5.55852E-5
14-74036363-T-C p.Met140Thr missense ACOT2 1 77066 1.29759E-5 38533 0 8.60741E-6
14-74036365-G-T p.Gly141Trp missense ACOT2 1 77084 1.29729E-5 38542 0 NA
14-74036366-G-A p.Gly141Glu missense ACOT2 1 77114 1.29678E-5 38557 0 NA
14-74036370-G-T p.Leu142Leu synonymous ACOT2 4322 76494 0.0565012 38247 182 0.0808898
14-74036372-T-C p.Leu143Pro missense ACOT2 4 77126 5.18632E-5 38563 0 3.17299E-5
14-74036391-G-T p.Glu149Asp missense ACOT2 7 77418 9.04183E-5 38709 0 0.00252525
14-74036397-T-C p.Pro151Pro synonymous ACOT2 28 77484 3.61365E-4 38742 1 0.00102119
14-74036398-T-G p.Leu152Val missense ACOT2 1 77536 1.28972E-5 38768 0 6.38529E-5
14-74036404-C-G p.Arg154Gly missense ACOT2 1 77474 1.29076E-5 38737 0 NA
14-74036407-C-T p.Leu155Leu synonymous ACOT2 1 77474 1.29076E-5 38737 0 3.19244E-5
14-74036411-T-A p.Val156Glu missense ACOT2 2 76754 2.60573E-5 38377 0 1.15038E-5
14-74036416-C-A p.Arg158Ser missense ACOT2 1 76724 1.30337E-5 38362 0 NA
14-74036417-G-T p.Arg158Leu missense ACOT2 1 76806 1.30198E-5 38403 0 NA
14-74036421-C-A p.Asp159Glu missense ACOT2 23 76852 2.99277E-4 38426 0 8.30193E-4
14-74036426-G-A p.Arg161Gln missense ACOT2 1 77014 1.29847E-5 38507 0 3.19326E-5
14-74036431-C-T p.Pro163Ser missense ACOT2 2 77064 2.59525E-5 38532 0 1.0185E-5
14-74036438-C-T p.Ala165Val missense ACOT2 1 77186 1.29557E-5 38593 0 NA
14-74036443-G-C p.Glu167Gln missense ACOT2 4 77308 5.17411E-5 38654 2 NA
14-74036450-A-G p.Glu169Gly missense ACOT2 1 77284 1.29393E-5 38642 0 4.22615E-6
14-74036461-G-A p.Gly173Ser missense ACOT2 1 77224 1.29493E-5 38612 0 NA
14-74036462-G-T p.Gly173Val missense ACOT2 1 77196 1.2954E-5 38598 0 3.19407E-5
14-74036465-A-ACGACCC p.Asp177_Pro178dup disruptive_inframe_insertion ACOT2 4 77110 5.18739E-5 38555 0 1.07924E-5
14-74036466-C-T p.His174His synonymous ACOT2 2 77100 2.59403E-5 38550 0 NA
14-74036472-C-T p.Pro176Pro synonymous ACOT2 1 77050 1.29786E-5 38525 0 1.10217E-5
14-74036474-AC-A p.Arg180fs frameshift ACOT2 1 76892 1.30053E-5 38446 0 NA
14-74036474-A-G p.Asp177Gly missense ACOT2 2 76892 2.60105E-5 38446 0 0.00151668
14-74036475-C-T p.Asp177Asp synonymous ACOT2 1 76996 1.29877E-5 38498 0 2.20347E-5
14-74036475-CCCCGGG-C p.Pro178_Gly179del disruptive_inframe_deletion ACOT2 2 76996 2.59754E-5 38498 0 4.36072E-6
14-74036485-C-T p.Leu181Leu synonymous ACOT2 4 76864 5.204E-5 38432 0 1.27787E-4
14-74036490-G-C p.Leu182Leu synonymous ACOT2 1 76866 1.30097E-5 38433 0 1.12181E-5
14-74036495-A-G p.Gln184Arg missense ACOT2 130 74732 0.00173955 37366 2 0.016891
14-74036495-AGAC-GGGT p.GlnThr184ArgVal missense ACOT2 3 76826 3.90493E-5 38413 0 NA
14-74036497-A-G p.Thr185Ala missense ACOT2 144 74658 0.0019288 37329 3 0.0168291
14-74036498-C-T p.Thr185Met missense ACOT2 234 74822 0.00312742 37411 2 0.0168557
14-74036498-C-G p.Thr185Arg missense ACOT2 3 76706 3.91104E-5 38353 0 6.87364E-5
14-74036500-C-T p.Arg186Trp missense ACOT2 1485 76548 0.0193996 38274 39 0.0184383
14-74036505-C-T p.His187His synonymous ACOT2 2 76598 2.61103E-5 38299 0 1.17017E-5
14-74036506-G-C p.Glu188Gln missense ACOT2 1 76570 1.30599E-5 38285 0 3.52055E-5
14-74036516-TCCTC-T p.Leu192fs frameshift ACOT2 1 76348 1.30979E-5 38174 0 1.84011E-5
14-74036525-C-T p.Pro194Leu missense ACOT2 4 76202 5.24921E-5 38101 0 1.85453E-5
14-74036525-C-G p.Pro194Arg missense ACOT2 1 76202 1.3123E-5 38101 0 9.27265E-6
14-74036527-G-A p.Gly195Arg missense ACOT2 1 76196 1.3124E-5 38098 0 3.19816E-5
14-74036530-G-C p.Val196Leu missense ACOT2 1 76148 1.31323E-5 38074 0 NA
14-74036531-T-A p.Val196Glu missense ACOT2 20 75954 2.63317E-4 37977 0 7.72566E-4
14-74036540-AGCCG-A p.Pro200fs frameshift ACOT2 2 76574 2.61185E-5 38287 0 NA
14-74036544-G-A p.Pro200Pro synonymous ACOT2 2 76672 2.60851E-5 38336 0 8.29266E-5
14-74036545-G-T p.Val201Leu missense ACOT2 2 76692 2.60783E-5 38346 0 NA
14-74036548-C-A p.Arg202Ser missense ACOT2 1 76664 1.30439E-5 38332 0 NA
14-74036550-C-T p.Arg202Arg synonymous ACOT2 2 76704 2.60743E-5 38352 0 1.17492E-5
14-74036552-T-C p.Val203Ala missense ACOT2 12 76782 1.56287E-4 38391 0 5.10204E-4
14-74036557-C-T p.Arg205Trp missense ACOT2 1 76770 1.30259E-5 38385 0 4.40234E-6
14-74036559-G-A p.Arg205Arg synonymous ACOT2 1 76836 1.30147E-5 38418 0 4.65701E-5
14-74036560-G-A p.Val206Met missense ACOT2 1 76828 1.30161E-5 38414 0 NA
14-74036562-G-C p.Val206Val synonymous ACOT2 1 76802 1.30205E-5 38401 0 NA
14-74036570-C-T p.Thr209Met missense ACOT2 2 76768 2.60525E-5 38384 0 5.79697E-5
14-74036573-T-G p.Leu210Arg missense ACOT2 3 76786 3.90696E-5 38393 0 9.5865E-5
14-74036576-T-G p.Phe211Cys missense ACOT2 1 76818 1.30178E-5 38409 0 4.38543E-6
14-74036583-G-T p.Pro213Pro synonymous ACOT2 1 76776 1.30249E-5 38388 0 6.39182E-5
14-74036585-C-A p.Pro214Gln missense+splice_region ACOT2 9 76808 1.17175E-4 38404 0 0.00208333
14-74036585-C-CAGAACCTGGGCCCTTTCCTGGGATTGTGGACATGTTCGGAACTGG p.Glu169_Val170insAsnLeuGlyProPheLeuGlyLeuTrpThrCysSerGluLeuGlu conservative_inframe_insertion ACOT2 1 76808 1.30195E-5 38404 0 NA
14-74036587-G-GAACCTGGGCCCTTTCCTGGGATTGTGGACATGTTCGGAACTGGAGGTGGCCT c.643_643+1insAACCTGGGCCCTTTCCTGGGATTGTGGACATGTTCGGAACTGGAGGTGGCCT splice_donor ACOT2 1 76764 1.30269E-5 38382 0 NA
14-74040089-A-G c.644-3A>G splice_region ACOT2 2 83166 2.40483E-5 41583 0 6.25E-4
14-74040095-C-T p.Pro216Leu missense ACOT2 7 83218 8.41164E-5 41609 0 9.56389E-5
14-74040102-C-CT p.Pro220fs frameshift ACOT2 3 83262 3.60308E-5 41631 0 5.29661E-4
14-74040110-G-T p.Gly221Val missense ACOT2 2 83286 2.40136E-5 41643 0 3.50653E-4
14-74040111-G-C p.Gly221Gly synonymous ACOT2 143 83158 0.00171962 41579 1 0.00162856
14-74040121-A-G p.Met225Val missense ACOT2 1 83310 1.20034E-5 41655 0 8.23696E-6
14-74040127-G-A p.Gly227Arg missense ACOT2 2 83340 2.39981E-5 41670 0 9.5645E-5
14-74040134-G-C p.Gly229Ala missense ACOT2 1 83354 1.1997E-5 41677 0 NA
14-74040136-G-A p.Gly230Ser missense ACOT2 2156 83206 0.0259116 41603 52 0.031875
14-74040139-G-A p.Gly231Ser missense ACOT2 6 83354 7.19821E-5 41677 0 6.25E-4
14-74040147-G-A p.Leu233Leu synonymous ACOT2 1 83366 1.19953E-5 41683 0 8.23696E-6
14-74040150-G-A p.Glu234Glu synonymous ACOT2 1 83370 1.19947E-5 41685 0 2.47109E-5
14-74040154-C-T p.Arg236Trp missense ACOT2 14 83378 1.6791E-4 41689 0 2.54512E-4
14-74040158-C-A p.Ala237Asp missense ACOT2 1 83384 1.19927E-5 41692 0 NA
14-74040163-C-T p.Leu239Leu synonymous ACOT2 1 83384 1.19927E-5 41692 0 NA
14-74040179-G-A p.Gly244Asp missense ACOT2 1 83408 1.19893E-5 41704 0 NA
14-74040187-G-C p.Val247Leu missense ACOT2 2 83408 2.39785E-5 41704 0 3.29478E-5
14-74040203-A-G p.Tyr252Cys missense ACOT2 1 83410 1.1989E-5 41705 0 NA
14-74040204-T-C p.Tyr252Tyr synonymous ACOT2 2 83408 2.39785E-5 41704 0 6.38284E-5
14-74040206-A-G p.Tyr253Cys missense ACOT2 3 83416 3.59643E-5 41708 0 4.94218E-5
14-74040207-T-C p.Tyr253Tyr synonymous ACOT2 2 83416 2.39762E-5 41708 0 1.19299E-5
14-74040221-T-A p.Leu258His missense ACOT2 1 83420 1.19875E-5 41710 0 5.76587E-5
14-74040231-C-T p.Thr261Thr synonymous ACOT2 14 83420 1.67825E-4 41710 1 1.27649E-4
14-74040232-A-G p.Met262Val missense ACOT2 1 83422 1.19872E-5 41711 0 NA
14-74040239-C-T p.Thr264Met missense ACOT2 5 83416 5.99405E-5 41708 0 5.03525E-4
14-74040240-G-A p.Thr264Thr synonymous ACOT2 6 83420 7.19252E-5 41710 0 2.78368E-5
14-74040244-C-T p.His266Tyr missense ACOT2 1 83414 1.19884E-5 41707 0 3.19081E-5
14-74040247-C-A p.Leu267Met missense ACOT2 10 83414 1.19884E-4 41707 0 1.91388E-4
14-74040247-C-G p.Leu267Val missense ACOT2 1 83416 1.19881E-5 41708 0 3.97668E-6
14-74040268-A-G p.Met274Val missense ACOT2 2 83408 2.39785E-5 41704 0 5.03525E-4
14-74040274-T-C p.Tyr276His missense ACOT2 2 83410 2.39779E-5 41705 0 1.27494E-4
14-74040276-C-G p.Tyr276* stop_gained ACOT2 1 83410 1.1989E-5 41705 0 NA
14-74040276-C-T p.Tyr276Tyr synonymous ACOT2 1 83410 1.1989E-5 41705 0 3.97671E-6
14-74040280-C-T p.Leu278Phe missense ACOT2 6 83410 7.19338E-5 41705 0 4.11862E-5
14-74040283-A-G p.Ser279Gly missense ACOT2 1 83410 1.1989E-5 41705 0 NA
14-74040284-G-A p.Ser279Asn missense ACOT2 1 83412 1.19887E-5 41706 0 3.97674E-6
14-74040294-G-C p.Glu282Asp missense+splice_region ACOT2 1 83404 1.19898E-5 41702 0 NA
14-74040296-T-TAAAAGGTCCAGGAGTTGGGCTGCTTGGAATTTCCAAAGGGGG c.846+2_846+3insAAAAGGTCCAGGAGTTGGGCTGCTTGGAATTTCCAAAGGGGG splice_region ACOT2 2 83408 2.39785E-5 41704 1 NA
14-74040299-GTTC-G c.846+6_846+8delTTC splice_region ACOT2 7 83386 8.39469E-5 41693 0 4.9434E-5
14-74040302-C-G c.846+8C>G splice_region ACOT2 2 83382 2.3986E-5 41691 0 8.23981E-6
14-74041114-A-G n.104+3A>G splice_region ACOT2 248 2508 0.0988836 1254 1 0.14283
14-74041118-G-C n.104+7G>C splice_region ACOT2 134 2988 0.0448461 1494 0 0.0737215
14-74041625-G-A p.Gly287Glu missense ACOT2 1 81642 1.22486E-5 40821 0 5.03035E-5
14-74041639-G-A p.Gly292Arg missense ACOT2 10 81534 1.22648E-4 40767 0 6.7382E-5
14-74041652-G-C p.Gly296Ala missense ACOT2 1 81472 1.22742E-5 40736 0 NA
14-74041653-G-A p.Gly296Gly synonymous ACOT2 1 81476 1.22736E-5 40738 0 NA
14-74041675-G-A p.Ala304Thr missense ACOT2 1 81224 1.23116E-5 40612 0 NA
14-74041691-GC-G p.Ile310fs frameshift ACOT2 1 80910 1.23594E-5 40455 0 NA
14-74041715-A-G p.Asn317Ser missense ACOT2 1 80060 1.24906E-5 40030 0 NA
14-74041718-GCT-G p.Ser319fs frameshift ACOT2 1 79752 1.25389E-5 39876 0 1.21062E-5
14-74041736-G-C p.Gly324Ala missense ACOT2 1 78828 1.26858E-5 39414 0 NA
14-74041747-C-T p.His328Tyr missense ACOT2 2 77820 2.57003E-5 38910 0 3.42231E-4
14-74041748-A-G p.His328Arg missense ACOT2 4339 15386 0.28201 7693 148 0.774457
14-74041758-C-T p.Gly331Gly synonymous ACOT2 1 76772 1.30256E-5 38386 0 1.02822E-4
14-74041771-C-T p.Pro336Ser missense ACOT2 1 75640 1.32205E-5 37820 0 2.24384E-5
14-74041772-C-G p.Pro336Arg missense ACOT2 2 75622 2.64473E-5 37811 0 7.08065E-5
14-74041773-T-C p.Pro336Pro synonymous ACOT2 1 75480 1.32485E-5 37740 0 NA
14-74041775-T-C p.Val337Ala missense ACOT2 27 75036 3.59827E-4 37518 0 0.005
14-74041778-G-C p.Gly338Ala missense ACOT2 26 74492 3.49031E-4 37246 0 0.00627353
14-74041792-C-T p.Arg343Cys missense ACOT2 2 72814 2.74672E-5 36407 0 1.59028E-5
14-74041793-G-A p.Arg343His missense ACOT2 1 72162 1.38577E-5 36081 0 1.47064E-4
14-74041800-G-C p.Lys345Asn missense ACOT2 3 71164 4.21561E-5 35582 0 3.74672E-5
14-74041822-G-C p.Asp353His missense ACOT2 1 66322 1.5078E-5 33161 0 NA
14-74041870-A-C p.Ser369Arg missense ACOT2 1 54502 1.83479E-5 27251 0 NA
14-74041895-A-AAGAATCAATTGAACCTGG p.Glu377_Ser378insGluSerIleGluProGly disruptive_inframe_insertion ACOT2 1 50628 1.97519E-5 25314 0 NA
14-74041908-G-A p.Leu381Leu synonymous ACOT2 1 48928 2.04382E-5 24464 0 NA
14-74041927-GACC-G p.His389del conservative_inframe_deletion ACOT2 3 47820 6.27353E-5 23910 0 NA
14-74041932-C-T p.His389His synonymous ACOT2 1 47804 2.09188E-5 23902 0 NA
14-74041936-TG-T p.Trp391fs frameshift ACOT2 1 47928 2.08646E-5 23964 0 NA
14-74041973-G-A p.Arg403His missense ACOT2 1 51148 1.95511E-5 25574 0 1.3751E-5
14-74041986-T-A p.His407Gln missense ACOT2 33 53332 6.18765E-4 26666 0 0.00178174
14-74041988-G-GA p.Arg409fs frameshift ACOT2 2 53586 3.73232E-5 26793 0 2.25327E-4
14-74041989-G-T p.Gly408Gly synonymous ACOT2 2 53736 3.7219E-5 26868 0 6.9541E-5
14-74042008-ATC-A p.Ile415fs frameshift ACOT2 1 57114 1.75088E-5 28557 0 1.34438E-5
14-74042038-G-C p.Glu425Gln missense ACOT2 1 64682 1.54603E-5 32341 0 NA
14-74042044-C-G p.Pro427Ala missense ACOT2 2 66300 3.01659E-5 33150 0 NA
14-74042053-C-T p.Pro430Ser missense ACOT2 1 68608 1.45756E-5 34304 0 NA
14-74042055-CCT-C p.Leu431fs frameshift ACOT2 4 69078 5.79056E-5 34539 0 1.49298E-4
14-74042056-CT-C p.Leu431fs frameshift ACOT2 12 69214 1.73375E-4 34607 0 4.50572E-4
14-74042057-T-C p.Leu431Pro missense ACOT2 1 69442 1.44005E-5 34721 0 2.09966E-4
14-74042058-G-A p.Leu431Leu synonymous ACOT2 1 69662 1.4355E-5 34831 0 NA
14-74042062-C-T p.Arg433Trp missense ACOT2 1 70274 1.423E-5 35137 0 8.88652E-5
14-74042074-C-T p.His437Tyr missense ACOT2 1 72356 1.38206E-5 36178 0 NA
14-74042075-A-G p.His437Arg missense ACOT2 2 72532 2.7574E-5 36266 0 1.06067E-4
14-74042090-G-T p.Ser442Ile missense ACOT2 1 73828 1.3545E-5 36914 0 4.82859E-5
14-74042095-A-G p.Ile444Val missense ACOT2 177 73956 0.00239331 36978 0 0.00641558
14-74042099-T-C p.Ile445Thr missense ACOT2 3 74640 4.01929E-5 37320 0 6.39386E-4
14-74042110-G-A p.Glu449Lys missense ACOT2 1 74928 1.33461E-5 37464 0 NA
14-74042112-G-A p.Glu449Glu synonymous ACOT2 1 74954 1.33415E-5 37477 0 3.19254E-5
14-74042114-C-T p.Pro450Leu missense ACOT2 3 75106 3.99435E-5 37553 0 6.02584E-6
14-74042120-C-T p.Ala452Val missense ACOT2 1 75454 1.32531E-5 37727 0 3.53553E-5
14-74042128-A-G p.Met455Val missense ACOT2 52 75546 6.88322E-4 37773 0 0.00225225
14-74042137-G-A p.Val458Met missense ACOT2 1 75626 1.3223E-5 37813 0 1.68386E-5
14-74042144-C-A p.Ala460Asp missense ACOT2 1 75714 1.32076E-5 37857 0 NA
14-74042152-C-T p.Gln463* stop_gained ACOT2 1 75716 1.32072E-5 37858 0 1.0843E-5
14-74042154-A-G p.Gln463Gln synonymous ACOT2 1 75804 1.31919E-5 37902 0 7.10674E-5
14-74042155-C-G p.Leu464Val missense ACOT2 1 75778 1.31964E-5 37889 0 NA
14-74042179-T-C p.Leu472Leu synonymous ACOT2 1 76368 1.30945E-5 38184 0 6.52742E-4
14-74042181-G-A p.Leu472Leu synonymous ACOT2 51 76366 6.67836E-4 38183 1 0.00111083
14-74042185-G-A p.Gly474Ser missense ACOT2 2 76264 2.62247E-5 38132 0 1.08174E-5
14-74042187-C-G p.Gly474Gly synonymous ACOT2 43 76246 5.63964E-4 38123 0 0.00117096
14-74042188-C-T p.His475Tyr missense ACOT2 1 76330 1.3101E-5 38165 0 8.00512E-5
14-74042189-A-G p.His475Arg missense ACOT2 20726 68182 0.303981 34091 1073 0.425879
14-74042190-C-T p.His475His synonymous ACOT2 2 76254 2.62281E-5 38127 0 0.00188442
14-74042207-C-G p.Ser481* stop_gained ACOT2 5 75976 6.58103E-5 37988 0 1.13977E-5
14-74042207-C-T p.Ser481Leu missense ACOT2 4 75980 5.26454E-5 37990 0 5.12896E-5
14-74042211-A-G p.Lys482Lys synonymous ACOT2 1 76860 1.30107E-5 38430 0 NA