Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-81331597-G-T c.-251G>T 5_prime_UTR_premature_start_codon_gain ACSS3 14 66026 2.12038E-4 33013 0 5.74163E-4
12-81331702-C-A c.-151+5C>A splice_region ACSS3 1 37966 2.63394E-5 18983 0 NA
12-81471800-T-G c.-100T>G 5_prime_UTR_premature_start_codon_gain ACSS3 1 38612 2.58987E-5 19306 0 NA
12-81471825-C-G c.-75C>G 5_prime_UTR_premature_start_codon_gain ACSS3 1 42740 2.33973E-5 21370 0 NA
12-81471924-C-T p.Arg9Cys missense ACSS3 2 60360 3.31345E-5 30180 0 NA
12-81471941-C-A p.Ala14Ala synonymous ACSS3 6 62130 9.65717E-5 31065 0 1.59581E-4
12-81471942-G-A p.Gly15Arg missense ACSS3 3 62346 4.81186E-5 31173 0 8.01912E-6
12-81471943-G-T p.Gly15Val missense ACSS3 1 62594 1.5976E-5 31297 0 7.91527E-6
12-81471947-G-T p.Gly16Gly synonymous ACSS3 1 62244 1.60658E-5 31122 0 NA
12-81471948-C-T p.Leu17Phe missense ACSS3 28 62160 4.5045E-4 31080 0 7.86163E-4
12-81471952-G-C p.Gly18Ala missense ACSS3 1 62820 1.59185E-5 31410 0 NA
12-81471954-G-C p.Gly19Arg missense ACSS3 4 63018 6.34739E-5 31509 0 0.00101266
12-81471957-C-T p.Pro20Ser missense ACSS3 1 62860 1.59084E-5 31430 0 NA
12-81471964-C-A p.Pro22His missense ACSS3 3 64058 4.68326E-5 32029 0 NA
12-81471966-G-A p.Gly23Arg missense ACSS3 1 64270 1.55594E-5 32135 0 6.46078E-6
12-81471978-G-T p.Ala27Ser missense ACSS3 1 64636 1.54713E-5 32318 0 NA
12-81471982-G-T p.Arg28Leu missense ACSS3 1 65618 1.52397E-5 32809 0 1.36575E-4
12-81471984-G-T p.Gly29* stop_gained ACSS3 1 66080 1.51332E-5 33040 0 4.24088E-5
12-81472002-A-G p.Arg35Gly missense ACSS3 1 68192 1.46645E-5 34096 0 NA
12-81472014-G-A p.Val39Ile missense ACSS3 1 69128 1.44659E-5 34564 0 4.51463E-6
12-81472015-T-C p.Val39Ala missense ACSS3 1 69196 1.44517E-5 34598 0 NA
12-81472019-G-A p.Pro40Pro synonymous ACSS3 3 69608 4.30985E-5 34804 0 3.46368E-5
12-81472031-C-T p.Gly44Gly synonymous ACSS3 1 70940 1.40964E-5 35470 0 0.00100806
12-81472044-C-T p.Arg49Trp missense ACSS3 2 73160 2.73373E-5 36580 0 1.67994E-5
12-81472045-G-A p.Arg49Gln missense ACSS3 1 73388 1.36262E-5 36694 0 5.04541E-4
12-81472056-G-T p.Ala53Ser missense ACSS3 1 74842 1.33615E-5 37421 0 NA
12-81472056-G-A p.Ala53Thr missense ACSS3 1 74842 1.33615E-5 37421 0 4.14552E-6
12-81472057-C-A p.Ala53Glu missense ACSS3 2 74682 2.67802E-5 37341 0 8.33009E-5
12-81472065-T-C p.Ser56Pro missense ACSS3 1 75996 1.31586E-5 37998 0 NA
12-81472067-C-T p.Ser56Ser synonymous ACSS3 2 76156 2.62619E-5 38078 0 4.12334E-6
12-81472068-G-C p.Gly57Arg missense ACSS3 1 76062 1.31472E-5 38031 0 6.25E-4
12-81472071-A-G p.Ser58Gly missense ACSS3 3 76508 3.92116E-5 38254 0 1.27918E-4
12-81472075-G-A p.Gly59Asp missense ACSS3 4 76864 5.204E-5 38432 0 6.25827E-5
12-81472079-C-A p.Ser60Arg missense ACSS3 2 76934 2.59963E-5 38467 0 3.56303E-5
12-81472082-G-C p.Glu61Asp missense ACSS3 1 77432 1.29146E-5 38716 0 NA
12-81472086-A-G p.Lys63Glu missense ACSS3 1 77848 1.28455E-5 38924 0 8.83564E-6
12-81472088-G-C p.Lys63Asn missense ACSS3 2 78080 2.56148E-5 39040 0 NA
12-81472089-AC-A p.His65fs frameshift ACSS3 1 78038 1.28143E-5 39019 0 NA
12-81472090-C-A p.Thr64Asn missense ACSS3 1 78138 1.27979E-5 39069 0 1.76389E-5
12-81472094-C-T p.His65His synonymous ACSS3 1 78504 1.27382E-5 39252 0 NA
12-81472106-G-A p.Ser69Ser synonymous ACSS3 1 79164 1.2632E-5 39582 0 NA
12-81472107-G-T p.Val70Leu missense ACSS3 1 79290 1.26119E-5 39645 0 4.0845E-6
12-81472107-G-A p.Val70Met missense ACSS3 1 79290 1.26119E-5 39645 0 6.5352E-5
12-81472112-C-G p.Thr71Thr synonymous ACSS3 56 79528 7.04154E-4 39764 0 0.00282887
12-81472113-G-A p.Asp72Asn missense ACSS3 1 79594 1.25638E-5 39797 0 3.19795E-5
12-81472118-C-T p.Pro73Pro synonymous ACSS3 1 79914 1.25135E-5 39957 0 NA
12-81472125-T-A p.Phe76Ile missense ACSS3 1 80244 1.2462E-5 40122 0 NA
12-81472129-G-A p.Trp77* stop_gained ACSS3 1 80388 1.24397E-5 40194 0 8.14346E-6
12-81472133-C-A p.Gly78Gly synonymous ACSS3 1 80454 1.24295E-5 40227 0 3.19285E-5
12-81472161-A-G p.Lys88Glu missense ACSS3 1 80866 1.23661E-5 40433 0 3.19407E-5
12-81472168-G-A p.Trp90* stop_gained ACSS3 1 80926 1.2357E-5 40463 0 8.6884E-6
12-81472172-CA-C p.Thr93fs frameshift ACSS3 1 80946 1.23539E-5 40473 0 NA
12-81472178-G-A p.Thr93Thr synonymous ACSS3 1 80922 1.23576E-5 40461 0 NA
12-81472178-G-T p.Thr93Thr synonymous ACSS3 1 80922 1.23576E-5 40461 0 NA
12-81472180-TG-T p.Glu95fs frameshift ACSS3 2 80928 2.47133E-5 40464 0 NA
12-81472182-G-C p.Glu95Gln missense ACSS3 2 80926 2.47139E-5 40463 0 NA
12-81472188-A-G p.Lys97Glu missense ACSS3 1 80866 1.23661E-5 40433 0 NA
12-81472195-C-G p.Ser99Trp missense ACSS3 1 80820 1.23732E-5 40410 0 6.38447E-5
12-81472196-G-T p.Ser99Ser synonymous ACSS3 2 80782 2.4758E-5 40391 0 4.0794E-6
12-81472197-C-A p.Pro100Thr missense ACSS3 5 80796 6.18843E-5 40398 0 1.74128E-5
12-81472198-C-T p.Pro100Leu missense ACSS3 1 80770 1.23808E-5 40385 0 8.70762E-6
12-81472199-C-A p.Pro100Pro synonymous ACSS3 3 80788 3.71342E-5 40394 0 8.16173E-6
12-81472199-C-T p.Pro100Pro synonymous ACSS3 2 80788 2.47562E-5 40394 0 3.19142E-5
12-81472201-C-T p.Ser101Phe missense ACSS3 2 80776 2.47598E-5 40388 0 4.35661E-5
12-81472210-G-A p.Trp104* stop_gained ACSS3 1 80618 1.24042E-5 40309 0 NA
12-81472216-T-C c.311+6T>C splice_region ACSS3 1 80492 1.24236E-5 40246 0 8.74141E-6
12-81503360-C-T p.Asn110Asn synonymous ACSS3 1 82798 1.20776E-5 41399 0 8.29229E-6
12-81503375-C-T p.Ala115Ala synonymous ACSS3 1 82798 1.20776E-5 41399 0 4.80873E-5
12-81503376-G-A p.Val116Ile missense ACSS3 7 82788 8.45533E-5 41394 0 5.03525E-4
12-81503379-G-GT p.Asp117fs frameshift ACSS3 1 82802 1.2077E-5 41401 0 NA
12-81503382-C-T p.Arg118Cys missense ACSS3 1 82796 1.20779E-5 41398 0 8.27294E-6
12-81503383-G-A p.Arg118His missense ACSS3 5 82806 6.03821E-5 41403 0 9.55779E-5
12-81503383-G-GAACATTGGTAAATTTCAATT p.His119fs frameshift ACSS3 1 82806 1.20764E-5 41403 0 NA
12-81503389-T-C p.Ile120Thr missense ACSS3 1 82820 1.20744E-5 41410 0 NA
12-81503401-A-C p.Lys124Thr missense ACSS3 2 82866 2.41354E-5 41433 0 NA
12-81503410-A-C p.Lys127Thr missense ACSS3 203 82856 0.00245003 41428 1 0.00245971
12-81503414-T-G p.Ile128Met missense ACSS3 1 82848 1.20703E-5 41424 0 8.26638E-6
12-81503420-C-A p.Ile130Ile synonymous ACSS3 1 82836 1.2072E-5 41418 0 3.9969E-6
12-81503421-A-G p.Ile131Val missense ACSS3 1 82840 1.20715E-5 41420 0 5.19501E-5
12-81503433-C-T p.Pro135Ser missense ACSS3 1 82782 1.20799E-5 41391 0 4.01168E-6
12-81503433-C-G p.Pro135Ala missense ACSS3 12 82782 1.44959E-4 41391 0 1.59256E-4
12-81503439-A-G p.Thr137Ala missense ACSS3 2 82746 2.41704E-5 41373 0 8.26583E-6
12-81503461-C-T p.Thr144Ile missense ACSS3 1 82530 1.21168E-5 41265 0 NA
12-81503464-A-G p.Tyr145Cys missense ACSS3 1 82454 1.2128E-5 41227 0 NA
12-81503466-A-G p.Lys146Glu missense ACSS3 1 82378 1.21392E-5 41189 0 6.64264E-5
12-81503470-A-G p.Glu147Gly missense ACSS3 3 82332 3.64378E-5 41166 0 3.3389E-5
12-81503487-A-C c.453+4A>C splice_region ACSS3 1 82022 1.21919E-5 41011 0 4.32829E-6
12-81503491-C-A c.453+8C>A splice_region ACSS3 1 81862 1.22157E-5 40931 0 NA
12-81528602-A-G p.Lys154Arg missense ACSS3 7 82064 8.52993E-5 41032 0 5.03525E-4
12-81528612-T-G p.Gly157Gly synonymous ACSS3 6 82438 7.2782E-5 41219 0 1.91083E-4
12-81528625-C-T p.His162Tyr missense ACSS3 2282 82652 0.0276097 41326 103 0.0472426
12-81528626-A-G p.His162Arg missense ACSS3 2 82716 2.41791E-5 41358 0 NA
12-81528629-G-A p.Gly163Asp missense ACSS3 1 82688 1.20937E-5 41344 0 8.31573E-6
12-81528641-G-A p.Gly167Asp missense ACSS3 1 83010 1.20467E-5 41505 0 NA
12-81528645-C-T p.Asp168Asp synonymous ACSS3 1 83038 1.20427E-5 41519 0 NA
12-81528647-C-T p.Thr169Ile missense ACSS3 1 83078 1.20369E-5 41539 0 2.48488E-5
12-81528649-G-T p.Val170Leu missense ACSS3 2 83092 2.40697E-5 41546 0 2.8642E-5
12-81528680-C-T p.Ala180Val missense ACSS3 2 83214 2.40344E-5 41607 0 2.83371E-5
12-81528681-G-A p.Ala180Ala synonymous ACSS3 4 83210 4.80711E-5 41605 0 6.37349E-5
12-81528682-A-G p.Met181Val missense ACSS3 2 83230 2.40298E-5 41615 0 NA
12-81528683-T-C p.Met181Thr missense ACSS3 1 83248 1.20123E-5 41624 0 NA
12-81528715-G-A p.Ala192Thr missense ACSS3 6 83228 7.20911E-5 41614 0 1.21527E-5
12-81528716-C-T p.Ala192Val missense ACSS3 1 83228 1.20152E-5 41614 0 1.65128E-5
12-81528718-A-G p.Ile193Val missense ACSS3 1 83214 1.20172E-5 41607 0 NA
12-81528721-C-A p.His194Asn missense ACSS3 1 83204 1.20187E-5 41602 0 4.052E-6
12-81528724-A-G p.Ser195Gly missense ACSS3 1 83238 1.20137E-5 41619 0 9.55718E-5
12-81528747-T-C p.Ala202Ala synonymous ACSS3 1 83180 1.20221E-5 41590 0 4.04122E-6
12-81528763-A-G p.Ser208Gly missense ACSS3 1 83068 1.20383E-5 41534 0 NA
12-81528766-C-T p.Arg209Cys missense ACSS3 7 83016 8.43211E-5 41508 0 3.18878E-5
12-81532911-C-G p.Pro215Arg missense+splice_region ACSS3 2 83098 2.4068E-5 41549 0 3.99007E-6
12-81532916-G-C p.Val217Leu missense ACSS3 1 83120 1.20308E-5 41560 0 NA
12-81532918-G-T p.Val217Val synonymous ACSS3 1 83126 1.20299E-5 41563 0 4.12528E-5
12-81532919-G-T p.Val218Phe missense ACSS3 1 83118 1.20311E-5 41559 0 3.98254E-6
12-81532941-T-C p.Ile225Thr missense ACSS3 2 83162 2.40494E-5 41581 0 3.2993E-5
12-81532945-A-G p.Glu226Glu synonymous ACSS3 25 83164 3.00611E-4 41582 0 6.0498E-4
12-81532952-A-G p.Arg229Gly missense ACSS3 1 83178 1.20224E-5 41589 0 8.24851E-6
12-81532963-G-A p.Glu232Glu synonymous ACSS3 150 83168 0.00180358 41584 0 0.00423567
12-81532965-A-G p.Tyr233Cys missense ACSS3 1 83172 1.20233E-5 41586 0 7.95545E-6
12-81532966-C-T p.Tyr233Tyr synonymous ACSS3 2 83170 2.40471E-5 41585 0 1.5675E-4
12-81532967-G-C p.Val234Leu missense ACSS3 5 83166 6.01207E-5 41583 0 2.47521E-5
12-81532967-G-A p.Val234Ile missense ACSS3 2 83166 2.40483E-5 41583 0 6.36492E-5
12-81532981-A-G p.Glu238Glu synonymous ACSS3 4 83192 4.80815E-5 41596 0 NA
12-81532987-G-A p.Ala240Ala synonymous ACSS3 87 83166 0.0010461 41583 0 0.00213498
12-81532997-G-A p.Gly244Arg missense ACSS3 1 83174 1.2023E-5 41587 0 3.97839E-6
12-81533013-A-G p.Asp249Gly missense ACSS3 1 83138 1.20282E-5 41569 0 NA
12-81533017-A-C p.Lys250Asn missense ACSS3 4 83138 4.81128E-5 41569 0 3.97928E-6
12-81533024-A-G p.Ile253Val missense ACSS3 1 83094 1.20346E-5 41547 0 NA
12-81533031-A-G p.Asn255Ser missense ACSS3 2 83052 2.40813E-5 41526 0 3.98178E-6
12-81533034-G-A p.Arg256His missense ACSS3 2 82994 2.40981E-5 41497 0 3.98394E-5
12-81533049-T-C c.777+5T>C splice_region ACSS3 3 82862 3.62048E-5 41431 0 NA
12-81533049-T-A c.777+5T>A splice_region ACSS3 1 82862 1.20683E-5 41431 0 NA
12-81536878-C-T c.778-8C>T splice_region ACSS3 1 82962 1.20537E-5 41481 0 3.18776E-5
12-81536879-T-C c.778-7T>C splice_region ACSS3 1 83008 1.2047E-5 41504 0 NA
12-81536890-C-A p.Ala261Glu missense ACSS3 3 83180 3.60664E-5 41590 0 7.18701E-5
12-81536890-C-T p.Ala261Val missense ACSS3 4 83180 4.80885E-5 41590 0 1.91653E-4
12-81536892-G-T p.Val262Phe missense ACSS3 38 83204 4.56709E-4 41602 0 3.74926E-4
12-81536901-G-T p.Ala265Ser missense ACSS3 1 83230 1.20149E-5 41615 0 NA
12-81536906-C-G p.Pro266Pro synonymous ACSS3 113 83222 0.00135781 41611 0 0.0038562
12-81536906-C-A p.Pro266Pro synonymous ACSS3 1 83228 1.20152E-5 41614 0 NA
12-81536906-C-T p.Pro266Pro synonymous ACSS3 1 83230 1.20149E-5 41615 0 3.18695E-5
12-81536907-G-A p.Gly267Ser missense ACSS3 6 83230 7.20894E-5 41615 0 5.03525E-4
12-81536910-C-T p.Arg268Cys missense ACSS3 3 83266 3.60291E-5 41633 0 3.18451E-5
12-81536911-G-A p.Arg268His missense ACSS3 1 83270 1.20091E-5 41635 0 3.18512E-5
12-81536930-A-G p.Glu274Glu synonymous ACSS3 1 83302 1.20045E-5 41651 0 1.64924E-5
12-81536941-A-G p.Lys278Arg missense ACSS3 1 83298 1.20051E-5 41649 0 NA
12-81536949-T-C p.Ser281Pro missense ACSS3 1 83312 1.20031E-5 41656 0 NA
12-81536950-C-A p.Ser281* stop_gained ACSS3 1 83310 1.20034E-5 41655 0 NA
12-81536964-C-G p.Pro286Ala missense ACSS3 1 83284 1.20071E-5 41642 0 NA
12-81536971-T-C p.Leu288Pro missense ACSS3 1 83276 1.20083E-5 41638 0 1.64853E-5
12-81536981-C-G p.His291Gln missense ACSS3 2 83252 2.40234E-5 41626 0 1.64902E-5
12-81536982-C-T p.Pro292Ser missense ACSS3 1 83248 1.20123E-5 41624 0 3.98E-6
12-81536987-G-A p.Leu293Leu synonymous ACSS3 2 83246 2.40252E-5 41623 0 1.5922E-5
12-81536993-T-A p.Ile295Ile synonymous ACSS3 1 83242 1.20132E-5 41621 0 8.2545E-6
12-81537013-C-T p.Thr302Met missense ACSS3 1 82532 1.21165E-5 41266 0 1.66063E-5
12-81537017-G-A p.Gly303Gly synonymous ACSS3 1 82490 1.21227E-5 41245 0 1.21625E-5
12-81537024-A-G p.Lys306Glu missense+splice_region ACSS3 1 82416 1.21336E-5 41208 0 4.07711E-6
12-81545444-T-C c.-212T>C 5_prime_UTR_premature_start_codon_gain ACSS3 1 48188 2.07521E-5 24094 0 NA
12-81545550-G-A c.-106G>A 5_prime_UTR_premature_start_codon_gain ACSS3 3 79796 3.75959E-5 39898 0 NA
12-81545572-G-A c.-84G>A 5_prime_UTR_premature_start_codon_gain ACSS3 1 81564 1.22603E-5 40782 0 NA
12-81545615-C-G c.-41C>G 5_prime_UTR_premature_start_codon_gain ACSS3 1 82852 1.20697E-5 41426 0 NA
12-81545617-C-G c.-39C>G 5_prime_UTR_premature_start_codon_gain ACSS3 1 82960 1.2054E-5 41480 0 3.99281E-6
12-81545649-C-T c.-7C>T 5_prime_UTR_premature_start_codon_gain ACSS3 4 83146 4.81081E-5 41573 0 3.29875E-5
12-81545650-G-A p.Ala316Thr missense ACSS3 1 83154 1.20259E-5 41577 0 2.4739E-5
12-81545653-G-A p.Val317Ile missense ACSS3 2 83178 2.40448E-5 41589 0 3.9794E-6
12-81545672-T-G p.Met323Arg missense ACSS3 1 83206 1.20184E-5 41603 0 NA
12-81545678-C-A p.Ser325Tyr missense ACSS3 1 83210 1.20178E-5 41605 0 NA
12-81545681-T-C p.Ile326Thr missense ACSS3 3 83206 3.60551E-5 41603 0 1.19351E-5
12-81545685-C-T p.Tyr327Tyr synonymous ACSS3 1 83200 1.20192E-5 41600 0 7.95729E-6
12-81545689-C-T p.Leu329Phe missense ACSS3 1 83196 1.20198E-5 41598 0 3.9789E-5
12-81545697-C-T p.Pro331Pro synonymous ACSS3 8 83202 9.61515E-5 41601 0 6.37349E-5
12-81545698-G-A p.Gly332Arg missense ACSS3 2 83202 2.40379E-5 41601 0 1.19384E-5
12-81545698-G-C p.Gly332Arg missense ACSS3 1 83202 1.20189E-5 41601 0 3.97947E-6
12-81545707-A-C c.999+4A>C splice_region ACSS3 1 83198 1.20195E-5 41599 0 NA
12-81545709-C-T c.999+6C>T splice_region ACSS3 4 83198 4.80781E-5 41599 0 1.27445E-4
12-81545710-G-A c.999+7G>A splice_region ACSS3 1 83200 1.20192E-5 41600 0 3.18552E-5
12-81545772-T-A c.1000-8T>A splice_region ACSS3 1 83230 1.20149E-5 41615 0 1.99395E-5
12-81545778-A-C c.1000-2A>C splice_acceptor ACSS3 1 83252 1.20117E-5 41626 0 NA
12-81545800-C-G p.Asp340Glu missense ACSS3 1 83270 1.20091E-5 41635 0 3.9794E-6
12-81545810-G-A p.Val344Ile missense ACSS3 2 83274 2.40171E-5 41637 0 3.18735E-5
12-81545826-A-G p.Tyr349Cys missense ACSS3 2 83276 2.40165E-5 41638 0 1.65096E-5
12-81545852-G-A p.Gly358Arg missense ACSS3 1 83176 1.20227E-5 41588 0 7.96546E-6
12-81545854-G-A p.Gly358Gly synonymous ACSS3 1 83178 1.20224E-5 41589 0 NA
12-81545868-T-C p.Leu363Ser missense ACSS3 4 83038 4.81707E-5 41519 0 8.29105E-6
12-81545870-T-C p.Tyr364His missense ACSS3 1 83004 1.20476E-5 41502 0 NA
12-81545879-A-G c.1095+4A>G splice_region ACSS3 3 82762 3.62485E-5 41381 0 1.20279E-5
12-81568559-C-A c.1096-8C>A splice_region ACSS3 2 82614 2.4209E-5 41307 0 8.33959E-6
12-81568569-G-A p.Gly366Gly splice_region+synonymous ACSS3 2 82794 2.41563E-5 41397 0 NA
12-81568576-G-A p.Val369Met missense ACSS3 1 82872 1.20668E-5 41436 0 3.98676E-6
12-81568591-G-T p.Ala374Ser missense ACSS3 115 82910 0.00138705 41455 1 0.00222944
12-81568597-G-A p.Ala376Thr missense ACSS3 5 82916 6.0302E-5 41458 0 3.18492E-5
12-81568599-T-G p.Ala376Ala synonymous ACSS3 26 82930 3.13517E-4 41465 0 4.05421E-4
12-81568602-T-C p.Tyr377Tyr synonymous ACSS3 1 82936 1.20575E-5 41468 0 3.98235E-6
12-81568606-C-T p.Arg379Cys missense ACSS3 5 82952 6.02758E-5 41476 0 4.38177E-5
12-81568620-G-A p.Glu383Glu synonymous ACSS3 3 82988 3.61498E-5 41494 0 8.26255E-6
12-81568624-G-C p.Gly385Arg missense ACSS3 9 83024 1.08402E-4 41512 0 7.96407E-5
12-81568629-A-G p.Val386Val synonymous ACSS3 5 83004 6.02381E-5 41502 0 1.23871E-4
12-81568652-C-T p.Thr394Ile missense ACSS3 1 82994 1.20491E-5 41497 0 NA
12-81568653-T-C p.Thr394Thr synonymous ACSS3 6 82978 7.23083E-5 41489 0 5.7771E-5
12-81568669-C-T p.Arg400Cys missense ACSS3 3 82980 3.61533E-5 41490 0 1.27389E-4
12-81568670-G-A p.Arg400His missense ACSS3 1 82968 1.20528E-5 41484 0 5.97295E-5
12-81568670-G-C p.Arg400Pro missense ACSS3 2 82968 2.41057E-5 41484 0 NA
12-81568686-G-A p.Gly405Gly synonymous ACSS3 12 83014 1.44554E-4 41507 0 7.64423E-4
12-81568687-G-A p.Ala406Thr missense ACSS3 1 83012 1.20465E-5 41506 0 NA
12-81568691-C-G p.Ala407Gly missense ACSS3 1 83034 1.20433E-5 41517 0 3.18532E-5
12-81568694-TG-T p.Lys410fs frameshift ACSS3 1 83040 1.20424E-5 41520 0 NA
12-81568696-G-A p.Gly409Arg missense ACSS3 2 83036 2.40859E-5 41518 0 9.55171E-5
12-81568706-A-G p.Tyr412Cys missense ACSS3 1 83058 1.20398E-5 41529 0 NA
12-81568721-G-A c.1247+3G>A splice_region ACSS3 1 82994 1.20491E-5 41497 0 NA
12-81568723-C-T c.1247+5C>T splice_region ACSS3 4 82958 4.82172E-5 41479 0 3.19349E-5
12-81568724-G-A c.1247+6G>A splice_region ACSS3 8 82940 9.64553E-5 41470 0 1.23854E-4
12-81593114-A-T c.1248-6A>T splice_region ACSS3 2 82648 2.4199E-5 41324 0 4.10361E-6
12-81593148-C-T p.Arg426* stop_gained ACSS3 1 82882 1.20653E-5 41441 0 1.66614E-5
12-81593150-A-G p.Arg426Arg synonymous ACSS3 1 82892 1.20639E-5 41446 0 NA
12-81593188-T-C p.Phe439Ser missense ACSS3 1 82934 1.20578E-5 41467 0 NA
12-81593195-A-G p.Val441Val synonymous ACSS3 1 82908 1.20616E-5 41454 0 NA
12-81593199-G-T p.Val443Phe missense ACSS3 1 82894 1.20636E-5 41447 0 3.99084E-6
12-81593204-A-G p.Leu444Leu synonymous ACSS3 48 82864 5.79262E-4 41432 0 5.73248E-4
12-81593205-G-T p.Asp445Tyr missense ACSS3 2 82858 2.41377E-5 41429 0 NA
12-81593207-C-T p.Asp445Asp synonymous ACSS3 60 82838 7.24305E-4 41419 0 7.75504E-4
12-81593207-C-A p.Asp445Glu missense ACSS3 1 82840 1.20715E-5 41420 0 NA
12-81593219-A-G p.Gln449Gln synonymous ACSS3 59 82704 7.13388E-4 41352 0 0.00187934
12-81593229-C-A c.1351+6C>A splice_region ACSS3 2 82562 2.42242E-5 41281 0 6.44636E-5
12-81593231-T-G c.1351+8T>G splice_region ACSS3 1 82544 1.21148E-5 41272 0 NA
12-81593441-A-G p.Ile72Val missense+splice_region ACSS3 1 53808 1.85846E-5 26904 0 7.66754E-6
12-81593444-A-G p.Lys73Glu missense ACSS3 32 52852 6.05464E-4 26426 1 0.0022416
12-81593449-C-A p.His74Gln missense ACSS3 2 50612 3.95163E-5 25306 0 1.53886E-5
12-81593491-G-A c.*38+1G>A splice_donor ACSS3 1 37296 2.68125E-5 18648 0 7.78452E-6
12-81593495-G-A c.*38+5G>A splice_region ACSS3 4 36446 1.09751E-4 18223 0 9.01876E-5
12-81610687-A-T p.Gly453Gly synonymous ACSS3 1 82640 1.21007E-5 41320 0 0.00125
12-81610688-T-A p.Ser454Thr missense ACSS3 5 82650 6.04961E-5 41325 0 4.12276E-5
12-81610701-C-T p.Ala458Val missense ACSS3 1 82704 1.20913E-5 41352 0 6.37267E-5
12-81610702-G-A p.Ala458Ala synonymous ACSS3 2846 82610 0.034451 41305 70 0.0272956
12-81610702-GT-AA p.AlaSer458AlaThr missense ACSS3 4 82712 4.83606E-5 41356 0 NA
12-81610706-T-C p.Cys460Arg missense ACSS3 1 82712 1.20901E-5 41356 0 3.18674E-5
12-81610717-A-G p.Leu463Leu synonymous ACSS3 2 82748 2.41698E-5 41374 0 2.47284E-5
12-81610743-G-C p.Gly472Ala missense ACSS3 1 82738 1.20863E-5 41369 0 NA
12-81610759-C-T p.Ser477Ser synonymous ACSS3 8 82656 9.67867E-5 41328 0 5.5713E-5
12-81610760-G-A p.Val478Ile missense ACSS3 5 82638 6.05049E-5 41319 0 6.37511E-5
12-81610768-A-G p.Gly480Gly synonymous ACSS3 2 82606 2.42113E-5 41303 0 1.19395E-5
12-81610774-T-C p.Asn482Asn splice_region+synonymous ACSS3 1 82528 1.21171E-5 41264 0 1.9904E-5
12-81610774-T-A p.Asn482Lys missense+splice_region ACSS3 1 82528 1.21171E-5 41264 0 NA
12-81613784-CT-C c.1448-7delT splice_region ACSS3 1 77752 1.28614E-5 38876 0 NA
12-81613789-T-C c.1448-3T>C splice_region ACSS3 3 78446 3.82429E-5 39223 0 3.1902E-5
12-81613797-A-G p.Ile485Val missense ACSS3 1 79044 1.26512E-5 39522 0 NA
12-81613799-T-C p.Ile485Ile synonymous ACSS3 2 79076 2.52921E-5 39538 0 NA
12-81613805-T-A p.Asp487Glu missense ACSS3 1 79180 1.26295E-5 39590 0 NA
12-81613806-G-A p.Asp488Asn missense ACSS3 2 79206 2.52506E-5 39603 0 NA
12-81613810-A-G p.Asn489Ser missense ACSS3 4 79304 5.04388E-5 39652 0 5.04032E-4
12-81613814-G-A p.Met490Ile missense ACSS3 1 79314 1.26081E-5 39657 0 NA
12-81613817-A-G p.Gln491Gln synonymous ACSS3 1 79318 1.26075E-5 39659 0 NA
12-81613820-A-G p.Lys492Lys synonymous ACSS3 1 79266 1.26157E-5 39633 0 NA
12-81613828-C-T p.Ala495Val missense ACSS3 1 79226 1.26221E-5 39613 0 1.66293E-5
12-81613830-C-T p.Arg496Trp missense ACSS3 7 79028 8.85762E-5 39514 0 2.23714E-4
12-81613831-G-A p.Arg496Gln missense ACSS3 1 79016 1.26557E-5 39508 0 6.39345E-5
12-81613832-G-A p.Arg496Arg synonymous ACSS3 1 79224 1.26224E-5 39612 0 NA
12-81624837-T-C p.Leu505Leu splice_region+synonymous ACSS3 3 82116 3.65337E-5 41058 0 3.18898E-5
12-81624839-A-C p.Leu505Phe missense ACSS3 1 82158 1.21717E-5 41079 0 NA
12-81624840-C-T p.Pro506Ser missense ACSS3 2 82148 2.43463E-5 41074 0 NA
12-81624842-A-G p.Pro506Pro synonymous ACSS3 1 82196 1.2166E-5 41098 0 NA
12-81624849-C-A p.Pro509Thr missense ACSS3 1 82262 1.21563E-5 41131 0 3.18837E-5
12-81624870-T-C p.Trp516Arg missense ACSS3 1 82318 1.2148E-5 41159 0 8.01077E-6
12-81624881-G-A p.Gln519Gln synonymous ACSS3 1 82324 1.21471E-5 41162 0 NA
12-81624895-A-G p.His524Arg missense ACSS3 5 82242 6.07962E-5 41121 0 4.02236E-6
12-81624922-G-C c.1593+5G>C splice_region ACSS3 2 81738 2.44684E-5 40869 0 2.90467E-5
12-81624922-G-A c.1593+5G>A splice_region ACSS3 1 81738 1.22342E-5 40869 0 4.10684E-6
12-81627134-T-C p.Tyr534His missense ACSS3 1 82820 1.20744E-5 41410 0 NA
12-81627138-A-G p.Asp535Gly missense ACSS3 1 82834 1.20723E-5 41417 0 2.47905E-5
12-81627166-A-G p.Glu544Glu synonymous ACSS3 11 82982 1.32559E-4 41491 2 8.25573E-6
12-81627167-G-T p.Glu545* stop_gained ACSS3 1 82992 1.20494E-5 41496 0 NA
12-81627171-G-A p.Gly546Asp missense ACSS3 2 83006 2.40946E-5 41503 0 1.59541E-5
12-81627175-T-C p.Tyr547Tyr synonymous ACSS3 1 83030 1.20438E-5 41515 0 3.30186E-5
12-81627178-G-T p.Leu548Phe missense ACSS3 2 83044 2.40836E-5 41522 0 1.65115E-5
12-81627180-A-AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG p.Tyr549delinsTerCysValCysValCysValCysValCysValCysValCysValCys stop_gained ACSS3 1 83040 1.20424E-5 41520 0 NA
12-81627189-C-T p.Ser552Phe missense ACSS3 1 83046 1.20415E-5 41523 0 NA
12-81627195-T-G p.Val554Gly missense ACSS3 3 83042 3.61263E-5 41521 0 3.98797E-6
12-81627198-A-T p.Asp555Val missense ACSS3 1 83038 1.20427E-5 41519 0 6.37918E-5
12-81627204-T-C p.Val557Ala missense ACSS3 1 83032 1.20435E-5 41516 0 3.988E-6
12-81627212-G-A p.Val560Ile missense ACSS3 2 83026 2.40888E-5 41513 0 NA
12-81627215-G-T p.Ala561Ser missense ACSS3 17 82998 2.04824E-4 41499 0 1.5952E-4
12-81627220-T-C p.Gly562Gly synonymous ACSS3 5 83006 6.02366E-5 41503 0 3.19E-5
12-81627238-C-T p.Gly568Gly synonymous ACSS3 15442 82502 0.187171 41251 1518 0.199375
12-81627241-C-T p.Ala569Ala synonymous ACSS3 19 82896 2.29203E-4 41448 2 1.81878E-4
12-81627244-T-C p.Ile570Ile synonymous ACSS3 152 82884 0.00183389 41442 0 0.0161128
12-81627251-G-T c.1716+1G>T splice_donor ACSS3 2 82816 2.41499E-5 41408 0 NA
12-81627253-A-G c.1716+3A>G splice_region ACSS3 1 82814 1.20753E-5 41407 0 8.27568E-6
12-81627258-T-C c.1716+8T>C splice_region ACSS3 1 82710 1.20904E-5 41355 0 6.38325E-5
12-81647080-T-C c.1717-6T>C splice_region ACSS3 2 83178 2.40448E-5 41589 0 NA
12-81647081-T-G c.1717-5T>G splice_region ACSS3 1 83178 1.20224E-5 41589 0 NA
12-81647089-A-G p.Ile574Val missense ACSS3 1 83214 1.20172E-5 41607 0 3.97928E-6
12-81647100-T-C p.His577His synonymous ACSS3 1 83244 1.20129E-5 41622 0 3.18492E-5
12-81647106-C-T p.Thr579Thr synonymous ACSS3 2 83250 2.4024E-5 41625 0 8.24198E-5
12-81647107-G-A p.Val580Met missense ACSS3 3 83264 3.603E-5 41632 0 6.05173E-4
12-81647109-G-A p.Val580Val synonymous ACSS3 4 83262 4.80411E-5 41631 0 3.18573E-5
12-81647115-CTG-C p.Ala584fs frameshift ACSS3 2 83266 2.40194E-5 41633 0 6.3678E-5
12-81647116-T-A p.Cys583Ser missense ACSS3 1 83270 1.20091E-5 41635 0 1.64821E-5
12-81647125-G-A p.Val586Ile missense ACSS3 1 83282 1.20074E-5 41641 0 NA
12-81647133-G-C p.Lys588Asn missense ACSS3 1 83288 1.20065E-5 41644 0 3.97753E-6
12-81647137-G-C p.Asp590His missense ACSS3 1 83290 1.20062E-5 41645 0 7.95488E-6
12-81647139-T-G p.Asp590Glu missense ACSS3 1 83288 1.20065E-5 41644 0 NA
12-81647154-T-C p.His595His synonymous ACSS3 97 83266 0.00116494 41633 0 0.00277017
12-81647161-T-C p.Leu598Leu synonymous ACSS3 2 83254 2.40229E-5 41627 0 3.18431E-5
12-81647167-C-A p.Leu600Ile missense ACSS3 1 83236 1.2014E-5 41618 0 NA
12-81647175-A-T p.Val602Val synonymous ACSS3 2 83214 2.40344E-5 41607 0 6.37024E-5
12-81647179-A-C p.Arg604Arg synonymous ACSS3 1 83210 1.20178E-5 41605 0 NA
12-81647270-C-T c.1817-4C>T splice_region ACSS3 1 83134 1.20288E-5 41567 0 NA
12-81647293-G-A p.Glu612Glu synonymous ACSS3 3 83156 3.60768E-5 41578 0 5.77291E-5
12-81647294-C-A p.Gln613Lys missense ACSS3 2 83150 2.40529E-5 41575 0 3.982E-6
12-81647307-A-G p.Glu617Gly missense ACSS3 3 83142 3.60828E-5 41571 0 4.94796E-5
12-81647316-A-G p.Lys620Arg missense ACSS3 1 83152 1.20262E-5 41576 0 NA
12-81647320-C-T p.His621His synonymous ACSS3 3 83128 3.60889E-5 41564 0 2.47394E-5
12-81647320-C-A p.His621Gln missense ACSS3 2 83128 2.40593E-5 41564 0 NA
12-81647321-G-A p.Val622Ile missense ACSS3 3 83132 3.60872E-5 41566 0 1.64932E-5
12-81647324-A-G p.Arg623Gly missense ACSS3 1 83132 1.20291E-5 41566 0 NA
12-81647332-C-T p.Asn625Asn synonymous ACSS3 1 83138 1.20282E-5 41569 0 NA
12-81647338-C-A p.Gly627Gly synonymous ACSS3 1 83120 1.20308E-5 41560 0 7.96191E-6
12-81647341-T-C p.Pro628Pro synonymous ACSS3 2 83124 2.40604E-5 41562 0 8.24715E-6
12-81647353-T-C p.Phe632Phe synonymous ACSS3 2 83092 2.40697E-5 41546 0 1.59223E-5
12-81647402-A-T p.Ile649Phe missense ACSS3 1 83036 1.2043E-5 41518 0 NA
12-81647407-C-T p.Pro650Pro synonymous ACSS3 1 83028 1.20441E-5 41514 0 9.55353E-5
12-81647409-G-A p.Arg651Gln missense ACSS3 1 83018 1.20456E-5 41509 0 9.55718E-5
12-81647426-A-G p.Ile657Val missense ACSS3 1 82942 1.20566E-5 41471 0 NA
12-81647432-A-C p.Asn659His missense ACSS3 2 82888 2.41289E-5 41444 0 3.18471E-5
12-81647440-G-A p.Lys661Lys synonymous ACSS3 2589 82700 0.0313059 41350 77 0.0555202
12-81647446-C-T p.Tyr663Tyr synonymous ACSS3 2 82718 2.41785E-5 41359 0 8.30179E-6
12-81647447-A-G p.Lys664Glu missense+splice_region ACSS3 2 82688 2.41873E-5 41344 0 2.56859E-4
12-81647448-A-C p.Lys664Thr missense+splice_region ACSS3 1 82664 1.20972E-5 41332 0 8.02729E-6
12-81647454-A-G c.1992+5A>G splice_region ACSS3 1 82522 1.2118E-5 41261 0 4.03509E-6
12-81648642-T-C p.Ser667Pro missense ACSS3 2 81904 2.44188E-5 40952 0 1.21454E-5
12-81648653-A-G p.Glu670Glu synonymous ACSS3 1 82088 1.2182E-5 41044 0 4.03538E-6
12-81648661-G-A p.Ser673Asn missense ACSS3 1 82138 1.21746E-5 41069 0 NA
12-81648663-A-AT p.Gly676fs frameshift ACSS3 9 82120 1.09596E-4 41060 0 3.18735E-5
12-81648674-C-A p.His677Gln missense ACSS3 11 81994 1.34156E-4 40997 0 2.18719E-4
12-81648674-C-T p.His677His synonymous ACSS3 1 81998 1.21954E-5 40999 0 4.45539E-5
12-81648692-G-A p.Lys683Lys synonymous ACSS3 1 81938 1.22043E-5 40969 0 8.25928E-6
12-81648698-A-G p.Ala685Ala synonymous ACSS3 1 81858 1.22163E-5 40929 0 8.26146E-6