Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-24667281-C-T c.-569C>T 5_prime_UTR_premature_start_codon_gain ACOT13 16 65996 2.42439E-4 32998 0 3.82336E-4
6-24667291-G-T c.-559G>T 5_prime_UTR_premature_start_codon_gain ACOT13 1 67822 1.47445E-5 33911 0 NA
6-24667326-C-T c.-166C>T 5_prime_UTR_premature_start_codon_gain ACOT13 1 71364 1.40127E-5 35682 0 NA
6-24667340-C-T c.-152C>T 5_prime_UTR_premature_start_codon_gain ACOT13 15 72880 2.05818E-4 36440 0 3.18431E-5
6-24667394-C-T c.-98C>T 5_prime_UTR_premature_start_codon_gain ACOT13 1 79604 1.25622E-5 39802 0 NA
6-24667413-C-G c.-79C>G 5_prime_UTR_premature_start_codon_gain ACOT13 6 81616 7.3515E-5 40808 0 6.27353E-4
6-24667421-A-G c.-71A>G 5_prime_UTR_premature_start_codon_gain ACOT13 1 82014 1.2193E-5 41007 0 NA
6-24667443-T-G c.-49T>G 5_prime_UTR_premature_start_codon_gain ACOT13 1 82796 1.20779E-5 41398 0 NA
6-24667444-C-G c.-48C>G 5_prime_UTR_premature_start_codon_gain ACOT13 1 82814 1.20753E-5 41407 0 4.15641E-6
6-24667492-AT-A p.Met1fs frameshift ACOT13 26 83236 3.12365E-4 41618 0 0.00112446
6-24667501-A-G p.Met4Val missense ACOT13 108 83260 0.00129714 41630 1 0.00305674
6-24667505-C-T p.Thr5Ile missense ACOT13 1 83258 1.20109E-5 41629 0 1.68478E-5
6-24667507-C-G p.Gln6Glu missense ACOT13 1 83268 1.20094E-5 41634 0 NA
6-24667517-G-A p.Arg9Gln missense ACOT13 11 83256 1.32123E-4 41628 0 5.57037E-5
6-24667521-G-A p.Glu10Glu synonymous ACOT13 1 83268 1.20094E-5 41634 0 6.36902E-5
6-24667522-G-A p.Val11Met missense ACOT13 1 83252 1.20117E-5 41626 0 NA
6-24667532-C-T p.Ala14Val missense ACOT13 1 83292 1.2006E-5 41646 0 3.97836E-6
6-24667536-G-A p.Met15Ile missense ACOT13 3 83290 3.60187E-5 41645 0 3.1837E-5
6-24667536-G-T p.Met15Ile missense ACOT13 8 83288 9.60523E-5 41644 0 5.85529E-5
6-24667544-C-T p.Ala18Val missense ACOT13 6 83272 7.2053E-5 41636 0 3.18552E-5
6-24667554-TGA-T p.Arg23fs frameshift ACOT13 1 83236 1.2014E-5 41618 0 NA
6-24667572-G-GATTACTCTT c.81_81+1insATTACTCTT splice_donor ACOT13 2 83192 2.40408E-5 41596 0 8.48623E-6
6-24667574-T-A c.81+2T>A splice_donor ACOT13 1 83132 1.20291E-5 41566 0 9.58222E-5
6-24687638-C-T c.-272C>T 5_prime_UTR_premature_start_codon_gain ACOT13 2 58140 3.43997E-5 29070 0 3.1839E-5
6-24687652-C-T c.-258C>T 5_prime_UTR_premature_start_codon_gain ACOT13 5 60088 8.32113E-5 30044 0 NA
6-24687673-C-T c.-237C>T 5_prime_UTR_premature_start_codon_gain ACOT13 1 64140 1.55909E-5 32070 0 3.1841E-5
6-24687684-A-G c.-226A>G 5_prime_UTR_premature_start_codon_gain ACOT13 1 68322 1.46366E-5 34161 0 NA
6-24687691-A-G c.-219A>G 5_prime_UTR_premature_start_codon_gain ACOT13 1 70112 1.42629E-5 35056 0 NA
6-24687771-A-T c.-139A>T 5_prime_UTR_premature_start_codon_gain ACOT13 23 78738 2.92108E-4 39369 0 4.4603E-4
6-24687863-A-G c.-47A>G 5_prime_UTR_premature_start_codon_gain ACOT13 3 81100 3.69914E-5 40550 0 NA
6-24698102-T-TA c.82-9_82-8insA splice_region ACOT13 2 82564 2.42236E-5 41282 0 2.57581E-5
6-24698111-A-G p.Ile28Val missense+splice_region ACOT13 1 82800 1.20773E-5 41400 0 8.50651E-6
6-24698131-TC-T p.Pro35fs frameshift ACOT13 5 83182 6.01092E-5 41591 0 3.80612E-4
6-24698137-G-A p.Gly36Gly synonymous ACOT13 1 83182 1.20218E-5 41591 0 1.65259E-5
6-24698140-A-G p.Lys37Lys synonymous ACOT13 1 83220 1.20163E-5 41610 0 2.81912E-5
6-24698141-G-A p.Val38Met missense ACOT13 1 83208 1.20181E-5 41604 0 NA
6-24698152-A-C p.Glu41Asp missense ACOT13 1 83292 1.2006E-5 41646 0 4.00484E-6
6-24698160-TAGA-T p.Glu47del disruptive_inframe_deletion ACOT13 8 83320 9.60154E-5 41660 0 6.51407E-4
6-24698169-A-AGCATACCAAT p.Ile52fs frameshift ACOT13 1 83348 1.19979E-5 41674 0 NA
6-24698178-A-G p.Asn50Ser missense ACOT13 86 83350 0.00103179 41675 0 0.0020141
6-24698184-T-C p.Ile52Thr missense ACOT13 1 83352 1.19973E-5 41676 0 2.47255E-5
6-24698187-G-T p.Gly53Val missense ACOT13 91 83358 0.00109168 41679 0 7.96857E-4
6-24698190-C-T p.Thr54Ile missense ACOT13 1 83362 1.19959E-5 41681 0 3.18492E-5
6-24698196-A-G p.His56Arg missense ACOT13 1 83366 1.19953E-5 41683 0 NA
6-24698198-G-A p.Gly57Ser missense ACOT13 3 83360 3.59885E-5 41680 0 1.64853E-5
6-24698200-C-T p.Gly57Gly synonymous ACOT13 1 83346 1.19982E-5 41673 0 1.991E-5
6-24698201-G-A p.Gly58Ser missense ACOT13 6 83340 7.19942E-5 41670 0 1.27421E-4
6-24698201-G-T p.Gly58Cys missense ACOT13 1 83340 1.1999E-5 41670 0 0.00100705
6-24698214-C-T p.Thr62Met missense ACOT13 12 83354 1.43964E-4 41677 0 5.03525E-4
6-24698215-G-A p.Thr62Thr synonymous ACOT13 18890 83106 0.2273 41553 2252 0.252266
6-24698219-G-A p.Val64Ile missense ACOT13 27 83358 3.23904E-4 41679 0 0.004375
6-24698220-T-C p.Val64Ala missense ACOT13 3 83358 3.59893E-5 41679 0 3.98086E-6
6-24698223-A-G p.Asp65Gly missense ACOT13 1 83358 1.19964E-5 41679 0 NA
6-24698228-A-G p.Ile67Val missense ACOT13 3 83348 3.59937E-5 41674 0 3.98896E-6
6-24698253-C-T p.Thr75Met missense ACOT13 2 83316 2.4005E-5 41658 0 6.36902E-5
6-24698256-A-G p.Glu76Gly missense ACOT13 1 83258 1.20109E-5 41629 0 NA
6-24698262-G-A p.Gly78Glu missense ACOT13 4 83224 4.80631E-5 41612 0 1.66642E-4
6-24698263-A-C p.Gly78Gly synonymous ACOT13 1 83210 1.20178E-5 41605 0 NA
6-24698266-A-T p.Ala79Ala synonymous ACOT13 1 83190 1.20207E-5 41595 0 NA
6-24698269-C-T p.Pro80Pro synonymous ACOT13 1 83174 1.2023E-5 41587 0 3.18532E-5
6-24698270-G-A p.Gly81Arg missense ACOT13 5 83170 6.01178E-5 41585 0 6.3674E-5
6-24698279-G-A p.Val84Ile missense ACOT13 1 83092 1.20349E-5 41546 0 NA
6-24698282-G-A p.Asp85Asn missense ACOT13 1 83046 1.20415E-5 41523 0 NA
6-24698291-A-G p.Ile88Val missense ACOT13 1 82962 1.20537E-5 41481 0 8.34119E-6
6-24698296-G-GT c.266+1_266+2insT splice_donor ACOT13 4 82792 4.83138E-5 41396 0 2.58333E-4
6-24698296-G-A c.266+1G>A splice_donor ACOT13 1 82792 1.20785E-5 41396 0 1.28079E-5
6-24698297-T-TAC c.266+2_266+3insAC splice_region ACOT13 1 82700 1.20919E-5 41350 0 2.68149E-5
6-24698298-A-ACATGTCACCTGCAAAATTAGGAGAAGATATAG c.266+3_266+4insCATGTCACCTGCAAAATTAGGAGAAGATATAG splice_region ACOT13 2 82704 2.41826E-5 41352 1 4.27033E-6
6-24698299-T-A c.266+4T>A splice_region ACOT13 1 82672 1.2096E-5 41336 0 NA
6-24701689-A-G p.Tyr90Cys missense+splice_region ACOT13 1 83172 1.20233E-5 41586 0 NA
6-24701694-T-C p.Ser92Pro missense ACOT13 1 83178 1.20224E-5 41589 0 NA
6-24701698-C-T p.Pro93Leu missense ACOT13 1 83178 1.20224E-5 41589 0 NA
6-24701707-TAGG-T p.Gly97del disruptive_inframe_deletion ACOT13 3 83174 3.6069E-5 41587 0 2.83419E-5
6-24701708-A-G p.Leu96Leu synonymous ACOT13 2 83178 2.40448E-5 41589 0 0.00125
6-24701718-A-G p.Ile100Val missense ACOT13 1 83230 1.20149E-5 41615 0 3.98991E-6
6-24701719-T-C p.Ile100Thr missense ACOT13 3 83234 3.6043E-5 41617 0 3.18471E-5
6-24701720-A-G p.Ile100Met missense ACOT13 1 83234 1.20143E-5 41617 0 8.24321E-6
6-24701725-T-TTACAGCACATGTTC p.Lys108fs frameshift ACOT13 1 83252 1.20117E-5 41626 0 3.98251E-6
6-24701726-TACAGCAC-T p.Thr103fs frameshift ACOT13 40 83254 4.80457E-4 41627 1 2.22859E-4
6-24701726-T-A p.Ile102Ile synonymous ACOT13 1 83254 1.20114E-5 41627 0 3.1837E-5
6-24701736-G-C p.Val106Leu missense ACOT13 40 83256 4.80446E-4 41628 1 0.001875
6-24701752-A-G p.Lys111Arg missense ACOT13 1 83266 1.20097E-5 41633 0 3.1841E-5
6-24701767-C-CAAT p.Thr116_Ser117insIle disruptive_inframe_insertion ACOT13 2 83268 2.40188E-5 41634 0 6.36862E-5
6-24701785-A-G p.Asn122Ser missense ACOT13 1 83264 1.201E-5 41632 0 8.24389E-6
6-24701792-C-T p.Ala124Ala synonymous ACOT13 4 83266 4.80388E-5 41633 0 3.29853E-5
6-24701805-A-G p.Ile129Val missense ACOT13 1 83254 1.20114E-5 41627 0 3.3012E-5
6-24701806-T-C p.Ile129Thr missense ACOT13 1 83256 1.20111E-5 41628 0 8.25437E-6
6-24701817-A-AGAC p.Arg133dup disruptive_inframe_insertion ACOT13 1 83214 1.20172E-5 41607 0 NA
6-24701842-G-A p.Ter141Ter stop_retained ACOT13 2 83104 2.40662E-5 41552 0 2.48773E-5
6-24701941-A-G n.732A>G splice_region ACOT13 1952 74632 0.026155 37316 8 0.0263041
6-24705272-T-G c.*3429T>G splice_region ACOT13 2 44516 4.49277E-5 22258 0 NA
6-24705286-CTTCA-C c.*3446_*3449delCATT splice_region ACOT13 1 44442 2.25012E-5 22221 0 NA