Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-78463197-T-C c.*589A>G splice_region ACSBG1 1 44826 2.23085E-5 22413 0 3.1839E-5
15-78463789-C-T p.Met724Ile missense ACSBG1 6 83178 7.21345E-5 41589 0 3.30879E-5
15-78463817-A-G p.Ile715Thr missense ACSBG1 1 83258 1.20109E-5 41629 0 1.64883E-5
15-78463825-T-C p.Lys712Lys synonymous ACSBG1 2 83250 2.4024E-5 41625 0 NA
15-78463839-A-G p.Leu708Leu synonymous ACSBG1 7 83254 8.408E-5 41627 0 9.55049E-5
15-78463844-G-A p.Thr706Ile missense ACSBG1 3 83262 3.60308E-5 41631 0 NA
15-78463864-C-T p.Thr699Thr synonymous ACSBG1 3 83196 3.60594E-5 41598 0 3.97703E-5
15-78463874-A-T c.2090-3T>A splice_region ACSBG1 1 83150 1.20265E-5 41575 0 1.65164E-5
15-78465929-A-C c.2089+6T>G splice_region ACSBG1 1 83258 1.20109E-5 41629 0 NA
15-78465948-C-T p.Ser692Ser synonymous ACSBG1 549 83296 0.00659095 41648 11 0.0124251
15-78465949-G-A p.Ser692Leu missense ACSBG1 1 83308 1.20036E-5 41654 0 6.37146E-5
15-78465962-C-T p.Asp688Asn missense ACSBG1 1 83354 1.1997E-5 41677 0 NA
15-78465963-T-G p.Arg687Ser missense ACSBG1 2 83356 2.39935E-5 41678 0 8.24198E-6
15-78465965-T-C p.Arg687Gly missense ACSBG1 2 83356 2.39935E-5 41678 0 NA
15-78465968-C-T p.Glu686Lys missense ACSBG1 1 83358 1.19964E-5 41679 0 2.4719E-5
15-78465974-T-C p.Ile684Val missense ACSBG1 1 83358 1.19964E-5 41679 0 3.97728E-6
15-78465993-G-A p.Tyr677Tyr synonymous ACSBG1 294 83360 0.00352687 41680 1 0.01375
15-78465995-A-C p.Tyr677Asp missense ACSBG1 2 83360 2.39923E-5 41680 0 NA
15-78466000-C-T p.Arg675Gln missense ACSBG1 2 83348 2.39958E-5 41674 0 3.18471E-5
15-78466001-G-A p.Arg675Trp missense ACSBG1 1 83346 1.19982E-5 41673 0 1.19299E-5
15-78466005-C-T p.Ala673Ala synonymous ACSBG1 5 83352 5.99866E-5 41676 0 2.74367E-4
15-78466006-G-A p.Ala673Val missense ACSBG1 2815 83320 0.0337854 41660 91 0.0490665
15-78466010-C-T p.Ala672Thr missense ACSBG1 1 83350 1.19976E-5 41675 0 3.57873E-5
15-78466011-G-A p.Asn671Asn synonymous ACSBG1 282 83344 0.00338357 41672 2 0.00707141
15-78466015-A-G p.Met670Thr missense ACSBG1 12 83352 1.43968E-4 41676 0 6.36862E-5
15-78466015-A-T p.Met670Lys missense ACSBG1 1 83352 1.19973E-5 41676 0 2.47121E-5
15-78466028-G-A p.Arg666Trp missense ACSBG1 38 83348 4.5592E-4 41674 0 6.67238E-4
15-78466035-C-A p.Glu663Asp missense ACSBG1 1 83346 1.19982E-5 41673 0 NA
15-78466035-C-T p.Glu663Glu synonymous ACSBG1 1 83346 1.19982E-5 41673 0 3.9764E-6
15-78466037-C-G p.Glu663Gln missense ACSBG1 362 83352 0.00434303 41676 1 0.00340772
15-78466039-T-A p.Glu662Val missense ACSBG1 4 83346 4.79927E-5 41673 0 8.23737E-6
15-78466040-C-T p.Glu662Lys missense ACSBG1 4 83348 4.79916E-5 41674 0 3.97633E-5
15-78466041-G-A p.Ile661Ile synonymous ACSBG1 1 83344 1.19985E-5 41672 0 1.6475E-5
15-78466043-T-C p.Ile661Val missense ACSBG1 2 83342 2.39975E-5 41671 0 NA
15-78466051-T-C p.Tyr658Cys missense ACSBG1 1 83336 1.19996E-5 41668 0 6.36902E-5
15-78466056-G-A p.Ala656Ala synonymous ACSBG1 6 83336 7.19977E-5 41668 0 6.36862E-5
15-78466057-G-C p.Ala656Gly missense ACSBG1 1 83344 1.19985E-5 41672 0 NA
15-78466062-A-T p.Asp654Glu missense ACSBG1 1 83344 1.19985E-5 41672 0 NA
15-78466065-C-T p.Lys653Lys synonymous ACSBG1 34 83340 4.07967E-4 41670 1 0.001875
15-78466073-C-G p.Glu651Gln missense ACSBG1 1 83306 1.20039E-5 41653 0 NA
15-78466083-G-A p.Ser647Ser synonymous ACSBG1 2 83272 2.40177E-5 41636 0 1.19313E-5
15-78466109-C-T p.Val639Met missense ACSBG1 4 83044 4.81672E-5 41522 0 6.36862E-5
15-78466126-A-G p.Met633Thr missense ACSBG1 1 82792 1.20785E-5 41396 0 1.64842E-5
15-78466127-T-C p.Met633Val missense ACSBG1 38064 77374 0.491948 38687 9155 0.562941
15-78466134-T-C p.Glu630Glu synonymous ACSBG1 6 82602 7.26375E-5 41301 0 9.15926E-5
15-78466161-G-C p.Thr621Thr synonymous ACSBG1 3 81512 3.68044E-5 40756 0 NA
15-78466170-G-A p.Asp618Asp synonymous ACSBG1 2 80934 2.47115E-5 40467 0 8.3925E-6
15-78466172-C-A p.Asp618Tyr missense ACSBG1 1 80806 1.23753E-5 40403 0 NA
15-78466754-C-T p.Lys605Lys synonymous ACSBG1 2 83284 2.40142E-5 41642 0 2.4717E-5
15-78466758-C-T p.Arg604Lys missense ACSBG1 1 83286 1.20068E-5 41643 0 3.97659E-6
15-78466762-G-C p.Gln603Glu missense ACSBG1 1 83280 1.20077E-5 41640 0 8.23913E-6
15-78466770-A-G p.Ile600Thr missense ACSBG1 4 83280 4.80307E-5 41640 0 1.1535E-4
15-78466776-A-G p.Met598Thr missense ACSBG1 1 83278 1.2008E-5 41639 0 NA
15-78466780-C-T p.Ala597Thr missense ACSBG1 1 83284 1.20071E-5 41642 0 2.38626E-5
15-78466781-G-A p.Asn596Asn synonymous ACSBG1 5010 83150 0.0602526 41575 196 0.084375
15-78466792-T-C p.Ile593Val missense ACSBG1 2 83274 2.40171E-5 41637 0 3.18715E-5
15-78466794-G-C p.Pro592Arg missense ACSBG1 1 83274 1.20085E-5 41637 0 NA
15-78466795-G-A p.Pro592Ser missense ACSBG1 2 83268 2.40188E-5 41634 0 NA
15-78466796-C-T p.Leu591Leu synonymous ACSBG1 3 83274 3.60256E-5 41637 0 4.9469E-5
15-78466800-T-A p.Glu590Val missense ACSBG1 1 83256 1.20111E-5 41628 0 NA
15-78466801-C-T p.Glu590Lys missense ACSBG1 1 83260 1.20106E-5 41630 0 3.18593E-5
15-78466810-C-T p.Val587Met missense ACSBG1 6 83254 7.20686E-5 41627 0 1.19333E-5
15-78466811-G-A p.Ala586Ala synonymous ACSBG1 2 83250 2.4024E-5 41625 0 3.18593E-5
15-78466814-C-T p.Glu585Glu synonymous ACSBG1 1 83252 1.20117E-5 41626 0 1.65297E-5
15-78466817-C-A p.Glu584Asp missense ACSBG1 1 83236 1.2014E-5 41618 0 NA
15-78466820-G-A p.Ile583Ile synonymous ACSBG1 1 83228 1.20152E-5 41614 0 3.18695E-5
15-78466830-G-A p.Pro580Leu missense ACSBG1 1 83190 1.20207E-5 41595 0 NA
15-78466834-G-A p.Pro579Ser missense ACSBG1 1 83150 1.20265E-5 41575 0 NA
15-78466838-A-G p.Asn577Asn synonymous ACSBG1 1 83144 1.20273E-5 41572 0 3.98051E-6
15-78466851-G-C p.Ala573Gly missense ACSBG1 1 83046 1.20415E-5 41523 0 3.18431E-5
15-78466858-T-C p.Ile571Val missense ACSBG1 2 82996 2.40975E-5 41498 0 1.46542E-4
15-78466866-T-TCCAAGTTTCCCTCTC c.1703-1_1703insGAGAGGGAAACTTGG splice_acceptor ACSBG1 1 82904 1.20621E-5 41452 0 NA
15-78466867-C-CCAAGTTTCCCTCTCCTCGGCT c.1703-2_1703-1insAGCCGAGGAGAGGGAAACTTG splice_acceptor ACSBG1 1 82886 1.20648E-5 41443 0 NA
15-78470964-C-T p.Arg565His missense ACSBG1 2 78802 2.53801E-5 39401 0 4.07226E-6
15-78470965-G-A p.Arg565Cys missense ACSBG1 2 78932 2.53383E-5 39466 0 4.06312E-6
15-78470990-G-A p.Ala556Ala synonymous ACSBG1 2 81212 2.46269E-5 40606 0 3.18552E-5
15-78470991-G-A p.Ala556Val missense ACSBG1 1 81302 1.22998E-5 40651 0 3.18431E-5
15-78470993-G-A p.Asp555Asp synonymous ACSBG1 8 81426 9.82487E-5 40713 0 5.04032E-4
15-78470998-G-A p.Leu554Leu synonymous ACSBG1 1 81654 1.22468E-5 40827 0 NA
15-78471001-G-A p.Arg553Cys missense ACSBG1 2 81734 2.44696E-5 40867 0 2.56016E-5
15-78471014-C-T p.Thr548Thr synonymous ACSBG1 4 82132 4.87021E-5 41066 0 3.39605E-5
15-78471019-G-A p.His547Tyr missense ACSBG1 1 82228 1.21613E-5 41114 0 NA
15-78471022-G-A p.Leu546Leu synonymous ACSBG1 1 82284 1.2153E-5 41142 0 NA
15-78471030-T-C p.Glu543Gly missense ACSBG1 1 82486 1.21233E-5 41243 0 3.19402E-5
15-78471034-C-T p.Glu542Lys missense ACSBG1 279 82502 0.00338174 41251 0 0.00589134
15-78471037-C-T p.Asp541Asn missense ACSBG1 1 82534 1.21162E-5 41267 0 1.99644E-5
15-78471048-C-G p.Cys537Ser missense ACSBG1 1 82706 1.2091E-5 41353 0 1.68025E-5
15-78471060-T-C p.Glu533Gly missense ACSBG1 1 82852 1.20697E-5 41426 0 NA
15-78471061-C-T p.Glu533Lys missense ACSBG1 34 82852 4.1037E-4 41426 0 0.0012418
15-78471073-A-C p.Tyr529Asp missense ACSBG1 1 82910 1.20613E-5 41455 0 1.19443E-5
15-78471087-G-A p.Thr524Ile missense ACSBG1 2 82924 2.41185E-5 41462 0 NA
15-78471090-C-T p.Arg523His missense ACSBG1 2 82892 2.41278E-5 41446 0 1.66594E-5
15-78471091-G-A p.Arg523Cys missense ACSBG1 2 82904 2.41243E-5 41452 0 3.98146E-6
15-78471106-T-C p.Ile518Val missense ACSBG1 1 82894 1.20636E-5 41447 0 NA
15-78471110-G-A p.Gly516Gly synonymous ACSBG1 5945 82704 0.0718829 41352 243 0.103125
15-78471117-C-A p.Gly514Val missense ACSBG1 2 82850 2.414E-5 41425 0 NA
15-78471124-C-T p.Ala512Thr missense ACSBG1 5 82770 6.04084E-5 41385 0 0.00125
15-78471134-C-T p.Val508Val synonymous ACSBG1 9 82682 1.08851E-4 41341 0 9.55292E-5
15-78471146-C-T p.Arg504Arg synonymous ACSBG1 1 82406 1.2135E-5 41203 0 NA
15-78471147-C-T p.Arg504Gln missense ACSBG1 1 82384 1.21383E-5 41192 0 1.20115E-5
15-78471148-G-A p.Arg504Trp missense ACSBG1 12 82300 1.45808E-4 41150 0 1.16158E-4
15-78471154-C-T p.Gly502Ser missense ACSBG1 6 82078 7.31012E-5 41039 0 1.91046E-4
15-78471155-G-A p.Pro501Pro synonymous ACSBG1 1 81998 1.21954E-5 40999 0 3.18532E-5
15-78471165-T-C p.Lys498Arg missense ACSBG1 2 81616 2.4505E-5 40808 0 4.85901E-5
15-78471179-G-A c.1485-6C>T splice_region ACSBG1 1 80572 1.24113E-5 40286 0 0.00187735
15-78471320-C-G c.*1143G>C splice_region ACSBG1 3373 3378 0.99852 1689 1684 1.0
15-78471897-C-T p.Leu493Leu synonymous ACSBG1 2 82702 2.41832E-5 41351 0 NA
15-78471904-T-C p.Tyr491Cys missense ACSBG1 1 82862 1.20683E-5 41431 0 8.29009E-6
15-78471909-G-A p.Tyr489Tyr synonymous ACSBG1 1 82946 1.2056E-5 41473 0 3.97969E-6
15-78471916-C-T p.Ser487Asn missense ACSBG1 1 83036 1.2043E-5 41518 0 8.27157E-6
15-78471918-G-A p.Ser486Ser synonymous ACSBG1 1 83064 1.20389E-5 41532 0 3.97883E-6
15-78471932-G-A p.Pro482Ser missense ACSBG1 1 83136 1.20285E-5 41568 0 NA
15-78471954-G-A p.Tyr474Tyr synonymous ACSBG1 5982 83012 0.0720619 41506 242 0.104375
15-78471960-C-T p.Ala472Ala synonymous ACSBG1 4 83192 4.80815E-5 41596 0 1.59076E-5
15-78471961-G-A p.Ala472Val missense ACSBG1 1 83184 1.20215E-5 41592 0 2.47284E-5
15-78471969-G-A p.Arg469Arg synonymous ACSBG1 1 83210 1.20178E-5 41605 0 NA
15-78471971-G-A p.Arg469Cys missense ACSBG1 1 83200 1.20192E-5 41600 0 8.24158E-6
15-78471991-A-G p.Phe462Ser missense ACSBG1 1 83228 1.20152E-5 41614 0 NA
15-78471998-G-A p.Gln460* stop_gained ACSBG1 2 83236 2.40281E-5 41618 0 NA
15-78472005-T-A p.Ala457Ala synonymous ACSBG1 1 83244 1.20129E-5 41622 0 1.19294E-5
15-78472012-A-C p.Met455Arg missense ACSBG1 1 83250 1.2012E-5 41625 0 8.23778E-6
15-78472012-A-G p.Met455Thr missense ACSBG1 2 83250 2.4024E-5 41625 0 NA
15-78472020-C-A p.Ala452Ala synonymous ACSBG1 1 83232 1.20146E-5 41616 0 NA
15-78472020-C-T p.Ala452Ala synonymous ACSBG1 2 83232 2.40292E-5 41616 0 1.64758E-5
15-78472021-G-A p.Ala452Val missense ACSBG1 1 83232 1.20146E-5 41616 0 2.38588E-5
15-78472036-T-G p.Lys447Thr missense ACSBG1 1 83264 1.201E-5 41632 0 NA
15-78472045-T-C p.Lys444Arg missense ACSBG1 1 83244 1.20129E-5 41622 0 1.59055E-5
15-78472052-A-G p.Phe442Leu missense ACSBG1 5 83256 6.00557E-5 41628 0 4.374E-5
15-78472053-T-C p.Gly441Gly synonymous ACSBG1 1 83254 1.20114E-5 41627 0 3.18756E-5
15-78472067-G-A p.Arg437Cys missense ACSBG1 2 83252 2.40234E-5 41626 0 NA
15-78472075-G-A p.Ala434Val missense ACSBG1 2 83222 2.40321E-5 41611 0 NA
15-78472078-A-T p.Leu433Gln missense ACSBG1 1 83214 1.20172E-5 41607 0 NA
15-78472095-C-T p.Leu427Leu synonymous ACSBG1 1 83130 1.20294E-5 41565 0 8.26597E-6
15-78472105-G-A p.Thr424Ile missense ACSBG1 2 83020 2.40906E-5 41510 0 7.95963E-6
15-78472118-G-A p.Leu420Leu synonymous ACSBG1 10 82724 1.20884E-4 41362 0 1.63465E-4
15-78472122-G-A p.Ser418Ser splice_region+synonymous ACSBG1 2 82564 2.42236E-5 41282 0 3.51348E-4
15-78473101-C-T p.Gly417Ser missense ACSBG1 3 80848 3.71067E-5 40424 0 6.37389E-5
15-78473121-T-A p.Glu410Val missense ACSBG1 1 81838 1.22193E-5 40919 0 8.29009E-6
15-78473132-C-T p.Ser406Ser synonymous ACSBG1 6 82146 7.30407E-5 41073 0 8.27171E-5
15-78473151-A-G p.Met400Thr missense ACSBG1 1 82526 1.21174E-5 41263 0 1.19351E-5
15-78473157-C-T p.Arg398Gln missense ACSBG1 3 82528 3.63513E-5 41264 0 1.65101E-5
15-78473158-G-A p.Arg398* stop_gained ACSBG1 1 82494 1.21221E-5 41247 0 NA
15-78473160-C-T p.Arg397Gln missense ACSBG1 57 82506 6.90859E-4 41253 1 0.00503525
15-78473165-G-A p.Phe395Phe synonymous ACSBG1 2 82578 2.42195E-5 41289 0 NA
15-78473174-C-A p.Gln392His missense ACSBG1 1 82624 1.2103E-5 41312 0 3.9781E-6
15-78473180-C-T p.Ala390Ala synonymous ACSBG1 1 82614 1.21045E-5 41307 0 4.12439E-5
15-78473181-G-A p.Ala390Val missense ACSBG1 1 82576 1.21101E-5 41288 0 NA
15-78473185-C-T p.Val389Met missense ACSBG1 1 82616 1.21042E-5 41308 0 3.18492E-5
15-78473196-C-T p.Arg385His missense ACSBG1 1 82576 1.21101E-5 41288 0 2.47398E-5
15-78473233-T-C p.Met373Val missense ACSBG1 2 82364 2.42825E-5 41182 0 NA
15-78473245-GCTCCAC-G p.Val367_Glu368del conservative_inframe_deletion ACSBG1 1 82126 1.21764E-5 41063 0 3.18654E-5
15-78473253-TC-T p.Glu366fs frameshift ACSBG1 2 81924 2.44129E-5 40962 0 3.99033E-6
15-78473256-C-T p.Arg365Gln missense ACSBG1 1 81902 1.22097E-5 40951 0 6.25E-4
15-78473261-C-A p.Thr363Thr synonymous ACSBG1 5 81698 6.1201E-5 40849 0 5.03525E-4
15-78473262-G-A p.Thr363Met missense ACSBG1 3 81610 3.67602E-5 40805 0 3.18613E-5
15-78473270-C-T p.Leu360Leu synonymous ACSBG1 1 81328 1.22959E-5 40664 0 1.20073E-5
15-78474306-C-A c.1071+5G>T splice_region ACSBG1 1 83094 1.20346E-5 41547 0 NA
15-78474312-T-A p.Lys357Met missense+splice_region ACSBG1 3 83126 3.60898E-5 41563 0 NA
15-78474313-T-C p.Lys357Glu missense+splice_region ACSBG1 4 83124 4.81209E-5 41562 0 1.99636E-5
15-78474313-T-G p.Lys357Gln missense+splice_region ACSBG1 1 83126 1.20299E-5 41563 0 3.19417E-5
15-78474319-C-T p.Ala355Thr missense ACSBG1 1 83134 1.20288E-5 41567 0 8.36708E-6
15-78474320-G-A p.Asp354Asp synonymous ACSBG1 3 83156 3.60768E-5 41578 0 3.34057E-5
15-78474322-C-T p.Asp354Asn missense ACSBG1 6 83156 7.21535E-5 41578 0 5.83761E-5
15-78474328-C-T p.Glu352Lys missense ACSBG1 5 83174 6.01149E-5 41587 0 6.25E-4
15-78474337-A-G p.Cys349Arg missense ACSBG1 1 83204 1.20187E-5 41602 0 NA
15-78474345-GC-G p.Ala346fs frameshift ACSBG1 1 83186 1.20213E-5 41593 0 NA
15-78474346-C-T p.Ala346Thr missense ACSBG1 4 83194 4.80804E-5 41597 0 3.18695E-5
15-78474347-C-T p.Gly345Gly synonymous ACSBG1 1 83200 1.20192E-5 41600 0 NA
15-78474351-C-T p.Trp344* stop_gained ACSBG1 5 83200 6.00962E-5 41600 0 1.19472E-5
15-78474374-G-A p.Tyr336Tyr synonymous ACSBG1 6 83174 7.21379E-5 41587 0 1.19406E-5
15-78474377-G-A p.Ile335Ile synonymous ACSBG1 2 83174 2.4046E-5 41587 0 8.2631E-6
15-78474378-A-G p.Ile335Thr missense ACSBG1 1 83166 1.20241E-5 41583 0 NA
15-78474383-G-C p.Ala333Ala synonymous ACSBG1 1 83160 1.2025E-5 41580 0 NA
15-78474385-C-T p.Ala333Thr missense ACSBG1 3 83152 3.60785E-5 41576 0 9.09452E-5
15-78474385-C-A p.Ala333Ser missense ACSBG1 2 83152 2.40523E-5 41576 0 3.18593E-5
15-78474386-G-A p.Ala332Ala synonymous ACSBG1 1 83150 1.20265E-5 41575 0 3.18573E-5
15-78474401-G-A p.Pro327Pro synonymous ACSBG1 3 83072 3.61133E-5 41536 0 NA
15-78474440-C-T p.Pro314Pro synonymous ACSBG1 7 82648 8.46965E-5 41324 0 5.06586E-4
15-78474444-C-T p.Arg313Gln missense ACSBG1 4 82596 4.84285E-5 41298 0 5.07614E-4
15-78474445-G-A p.Arg313Trp missense ACSBG1 2 82612 2.42096E-5 41306 0 1.20845E-5
15-78474449-G-A p.Asp311Asp synonymous ACSBG1 8 82510 9.69579E-5 41255 0 2.18837E-4
15-78474454-C-T p.Gly310Ser missense ACSBG1 3 82428 3.63954E-5 41214 0 NA
15-78474455-G-A p.Ala309Ala synonymous ACSBG1 3 82436 3.63919E-5 41218 0 0.00125
15-78474466-C-T p.Gly306Ser missense ACSBG1 2 82660 2.41955E-5 41330 0 4.46316E-5
15-78474467-G-A p.Tyr305Tyr synonymous ACSBG1 2 82612 2.42096E-5 41306 0 5.09165E-4
15-78474471-C-T p.Arg304Gln missense ACSBG1 2 82610 2.42101E-5 41305 0 6.25E-4
15-78474472-G-A p.Arg304Trp missense ACSBG1 1 82546 1.21145E-5 41273 0 8.44637E-6
15-78474476-C-T p.Thr302Thr synonymous ACSBG1 2886 82432 0.0350107 41216 93 0.0622363
15-78474477-G-T p.Thr302Lys missense ACSBG1 1 82442 1.21297E-5 41221 0 NA
15-78474480-C-CACGTG p.Trp301fs frameshift ACSBG1 4 82448 4.85154E-5 41224 0 NA
15-78474803-C-T c.894+5G>A splice_region ACSBG1 1 82494 1.21221E-5 41247 0 8.35506E-6
15-78474804-C-A c.894+4G>T splice_region ACSBG1 1 82520 1.21183E-5 41260 0 NA
15-78474832-C-T p.Lys290Lys synonymous ACSBG1 2 83074 2.40749E-5 41537 0 NA
15-78474834-T-C p.Lys290Glu missense ACSBG1 8 83080 9.62927E-5 41540 0 8.27116E-6
15-78474838-G-T p.Asn288Lys missense ACSBG1 1 83098 1.2034E-5 41549 0 NA
15-78474840-T-C p.Asn288Asp missense ACSBG1 1 83108 1.20325E-5 41554 0 4.13305E-5
15-78474846-T-C p.Thr286Ala missense ACSBG1 1 83144 1.20273E-5 41572 0 NA
15-78474852-C-T p.Gly284Ser missense ACSBG1 1 83152 1.20262E-5 41576 0 3.18593E-5
15-78474853-G-A p.Ser283Ser synonymous ACSBG1 35 83166 4.20845E-4 41583 0 0.00105176
15-78474869-A-G p.Val278Ala missense ACSBG1 2 83216 2.40338E-5 41608 0 NA
15-78474885-G-A p.Pro273Ser missense ACSBG1 1 83236 1.2014E-5 41618 0 NA
15-78474887-T-A p.Gln272Leu missense ACSBG1 1 83234 1.20143E-5 41617 0 NA
15-78474892-G-T p.Thr270Thr synonymous ACSBG1 3 83228 3.60456E-5 41614 0 9.55718E-5
15-78474898-A-G p.Ile268Ile synonymous ACSBG1 91 83242 0.0010932 41621 0 0.0012751
15-78474899-A-G p.Ile268Thr missense ACSBG1 1 83252 1.20117E-5 41626 0 NA
15-78474907-G-A p.Asp265Asp synonymous ACSBG1 24 83234 2.88344E-4 41617 0 5.03525E-4
15-78474912-G-A p.Leu264Leu synonymous ACSBG1 54 83240 6.48727E-4 41620 0 0.00125
15-78474914-G-T p.Ala263Asp missense ACSBG1 4 83232 4.80584E-5 41616 0 5.03525E-4
15-78474914-G-A p.Ala263Val missense ACSBG1 1 83232 1.20146E-5 41616 0 1.59224E-5
15-78474914-G-C p.Ala263Gly missense ACSBG1 2 83232 2.40292E-5 41616 0 NA
15-78474922-A-G p.Pro260Pro synonymous ACSBG1 1 83240 1.20135E-5 41620 0 3.18735E-5
15-78474925-C-T p.Val259Val synonymous ACSBG1 2 83230 2.40298E-5 41615 0 3.98035E-6
15-78474930-C-A p.Glu258* stop_gained ACSBG1 1 83238 1.20137E-5 41619 0 NA
15-78474946-G-A p.Phe252Phe synonymous ACSBG1 1 83232 1.20146E-5 41616 0 NA
15-78475041-C-A c.744+6G>T splice_region ACSBG1 2 83276 2.40165E-5 41638 0 NA
15-78475043-A-G c.744+4T>C splice_region ACSBG1 1 83288 1.20065E-5 41644 0 6.25E-4
15-78475047-C-T p.Thr248Thr splice_region+synonymous ACSBG1 1 83288 1.20065E-5 41644 0 3.97662E-6
15-78475048-G-A p.Thr248Met missense+splice_region ACSBG1 2 83296 2.40108E-5 41648 0 1.64731E-5
15-78475056-A-G p.Asn138Asn splice_region+synonymous ACSBG1 4 83304 4.80169E-5 41652 0 4.11828E-5
15-78475057-T-C p.Asn245Ser missense ACSBG1 6 83306 7.20236E-5 41653 0 2.47097E-5
15-78475062-C-T p.Met1? start_lost ACSBG1 3 83302 3.60135E-5 41651 0 8.23655E-6
15-78475071-T-A p.Pro240Pro synonymous ACSBG1 2 83306 2.40079E-5 41653 0 8.23642E-6
15-78475072-G-A p.Pro240Leu missense ACSBG1 113 83304 0.00135648 41652 0 0.0040282
15-78475073-G-C p.Pro240Ala missense ACSBG1 1 83316 1.20025E-5 41658 0 6.36983E-5
15-78475095-G-A c.-31C>T 5_prime_UTR_premature_start_codon_gain ACSBG1 23 83288 2.7615E-4 41644 0 0.00100705
15-78475101-C-T p.Lys230Lys synonymous ACSBG1 2 83294 2.40113E-5 41647 0 8.23655E-6
15-78475104-T-C c.-40A>G 5_prime_UTR_premature_start_codon_gain ACSBG1 1 83292 1.2006E-5 41646 0 3.1837E-5
15-78475108-T-A p.His228Leu missense ACSBG1 102 83288 0.00122467 41644 0 0.0020141
15-78475109-G-A p.His228Tyr missense ACSBG1 1 83290 1.20062E-5 41645 0 NA
15-78475110-T-C p.His50Arg missense ACSBG1 1 83288 1.20065E-5 41644 0 8.23655E-6
15-78475115-A-G c.-51T>C 5_prime_UTR_premature_start_codon_gain ACSBG1 16 83262 1.92164E-4 41631 0 5.96521E-5
15-78485857-C-A p.Lys218Asn missense ACSBG1 1 82736 1.20866E-5 41368 0 NA
15-78485874-G-T p.Gln213Lys missense ACSBG1 1 82954 1.20549E-5 41477 0 NA
15-78485875-C-T p.Thr212Thr synonymous ACSBG1 9 82964 1.08481E-4 41482 0 2.54842E-4
15-78485881-G-A p.Val210Val synonymous ACSBG1 13 83040 1.56551E-4 41520 0 6.25E-4
15-78485889-T-C p.Ile208Val missense ACSBG1 1 83090 1.20351E-5 41545 0 3.18674E-5
15-78485894-T-C p.Asn206Ser missense ACSBG1 5 83118 6.01554E-5 41559 0 9.10702E-5
15-78485898-C-T p.Ala205Thr missense ACSBG1 1 83112 1.2032E-5 41556 0 8.27527E-5
15-78485899-G-A p.Cys204Cys synonymous ACSBG1 5 83114 6.01583E-5 41557 0 4.96475E-5
15-78485902-G-A p.Cys203Cys synonymous ACSBG1 1 83126 1.20299E-5 41563 0 NA
15-78485928-C-A p.Ala195Ser missense ACSBG1 1 83146 1.2027E-5 41573 0 3.98286E-6
15-78485945-G-A p.Thr189Ile missense ACSBG1 2 83152 2.40523E-5 41576 0 NA
15-78485947-G-A p.Tyr188Tyr synonymous ACSBG1 2 83144 2.40547E-5 41572 0 NA
15-78485962-G-A p.Ile183Ile synonymous ACSBG1 5 83094 6.01728E-5 41547 0 4.20288E-5
15-78485965-G-A p.Gly182Gly synonymous ACSBG1 3 83078 3.61106E-5 41539 0 1.0118E-4
15-78485969-C-T c.543-1G>A splice_acceptor ACSBG1 1 83066 1.20386E-5 41533 0 NA
15-78486297-C-T p.Ser173Ser synonymous ACSBG1 9 82638 1.08909E-4 41319 0 2.66771E-4
15-78486298-G-A p.Ser173Leu missense ACSBG1 3 82670 3.62889E-5 41335 0 NA
15-78486312-C-T p.Pro168Pro synonymous ACSBG1 9 82694 1.08835E-4 41347 0 6.25E-4
15-78486313-G-A p.Pro168Leu missense ACSBG1 2 82724 2.41768E-5 41362 0 3.19E-5
15-78486326-C-T p.Gly164Ser missense ACSBG1 1 82708 1.20907E-5 41354 0 3.18959E-5
15-78486327-G-A p.Leu163Leu synonymous ACSBG1 2 82726 2.41762E-5 41363 0 6.37674E-5
15-78486339-A-G p.Ser159Ser synonymous ACSBG1 3 82624 3.63091E-5 41312 0 0.001875
15-78486344-G-T p.His158Asn missense ACSBG1 13 82630 1.57328E-4 41315 0 1.91253E-4
15-78486344-G-A p.His158Tyr missense ACSBG1 2 82630 2.42043E-5 41315 0 0.00125
15-78486349-T-A p.Gln152Leu missense+splice_region ACSBG1 1 82606 1.21057E-5 41303 0 NA
15-78486357-G-T c.454-7C>A splice_region ACSBG1 1 82462 1.21268E-5 41231 0 1.67381E-5
15-78486360-G-A p.Leu152Leu splice_region+synonymous ACSBG1 1 82426 1.21321E-5 41213 0 6.25E-4
15-78486861-T-C p.Lys147Arg missense ACSBG1 1 82958 1.20543E-5 41479 0 NA
15-78486866-G-A p.Ala145Ala synonymous ACSBG1 3 83022 3.6135E-5 41511 0 9.55718E-5
15-78486868-C-A p.Ala145Ser missense ACSBG1 2 83038 2.40854E-5 41519 0 NA
15-78486873-C-A p.Arg143Leu missense ACSBG1 3 83074 3.61124E-5 41537 0 1.64924E-5
15-78486874-G-A p.Arg143Cys missense ACSBG1 5 83096 6.01714E-5 41548 0 3.18573E-5
15-78486876-G-C p.Ala142Gly missense ACSBG1 3 83102 3.61002E-5 41551 0 5.03525E-4
15-78486877-C-T p.Ala142Thr missense ACSBG1 2 83098 2.4068E-5 41549 0 5.03525E-4
15-78486878-G-C p.Leu141Leu synonymous ACSBG1 5 83100 6.01685E-5 41550 0 7.15973E-5
15-78486878-G-A p.Leu141Leu synonymous ACSBG1 4 83100 4.81348E-5 41550 0 1.81312E-4
15-78486878-G-T p.Leu141Leu synonymous ACSBG1 3 83098 3.6102E-5 41549 0 NA
15-78486884-G-A p.Tyr139Tyr synonymous ACSBG1 1 83162 1.20247E-5 41581 0 1.59076E-5
15-78486897-TAGG-T p.Ser134del disruptive_inframe_deletion ACSBG1 1 83230 1.20149E-5 41615 0 3.18857E-5
15-78486905-G-A p.His132His synonymous ACSBG1 1 83254 1.20114E-5 41627 0 1.19292E-5
15-78486916-T-G p.Lys129Gln missense ACSBG1 2 83264 2.402E-5 41632 1 NA
15-78486923-G-A p.Arg126Arg synonymous ACSBG1 1 83268 1.20094E-5 41634 0 NA
15-78486924-C-T p.Arg126His missense ACSBG1 2 83262 2.40206E-5 41631 0 4.94218E-5
15-78486941-G-A p.Ile120Ile synonymous ACSBG1 65 83270 7.80593E-4 41635 0 0.00151057
15-78486946-G-C p.Leu119Val missense ACSBG1 1 83280 1.20077E-5 41640 0 NA
15-78486948-T-G p.Asp118Ala missense ACSBG1 1 83286 1.20068E-5 41643 0 NA
15-78486949-C-T p.Asp118Asn missense ACSBG1 5 83280 6.00384E-5 41640 0 2.47109E-5
15-78486954-T-A p.Tyr116Phe missense ACSBG1 1 83280 1.20077E-5 41640 0 NA
15-78486960-T-C p.Asp114Gly missense ACSBG1 1 83276 1.20083E-5 41638 0 1.19288E-5
15-78486970-C-T p.Glu111Lys missense ACSBG1 1 83242 1.20132E-5 41621 0 3.9764E-6
15-78486971-G-A p.Arg77* stop_gained ACSBG1 4 83230 4.80596E-5 41615 0 1.15327E-4
15-78486981-C-T p.Arg107Gln missense ACSBG1 2 83210 2.40356E-5 41605 0 7.95279E-6
15-78486982-G-A p.Arg107Trp missense ACSBG1 1 83192 1.20204E-5 41596 0 8.23791E-6
15-78486997-G-A p.Pro102Ser missense ACSBG1 1 83132 1.20291E-5 41566 0 NA
15-78487014-G-A p.Pro96Leu missense ACSBG1 2 82976 2.41034E-5 41488 0 NA
15-78487021-T-C p.Ile94Val missense ACSBG1 6 82890 7.23851E-5 41445 0 3.18667E-5
15-78487022-G-T p.His60Asn missense ACSBG1 2 82862 2.41365E-5 41431 0 3.18613E-5
15-78487024-G-A p.Arg93Cys missense ACSBG1 2 82810 2.41517E-5 41405 0 6.37471E-5
15-78487029-C-T p.Arg91His missense ACSBG1 37 82660 4.47617E-4 41330 0 0.00438048
15-78487030-G-A p.Arg91Cys missense ACSBG1 1 82622 1.21033E-5 41311 0 3.98861E-6
15-78487035-C-T p.Arg89Gln missense ACSBG1 1 82558 1.21127E-5 41279 0 3.18552E-5
15-78487036-G-A p.Arg89Trp missense ACSBG1 2 82532 2.4233E-5 41266 0 2.39523E-5
15-78487042-C-T p.Asp87Asn missense ACSBG1 56 82346 6.80057E-4 41173 0 0.00627353
15-78487043-G-A p.Arg53* stop_gained ACSBG1 13 82272 1.58012E-4 41136 0 4.13928E-5
15-78487044-G-A p.Ala86Val missense ACSBG1 1 82208 1.21643E-5 41104 0 NA
15-78487045-C-T p.Ala86Thr missense ACSBG1 2 82200 2.43309E-5 41100 0 3.99565E-6
15-78487047-C-T p.Arg85Gln missense ACSBG1 1 82076 1.21838E-5 41038 0 1.65725E-5
15-78487048-G-A p.Arg85Trp missense ACSBG1 4 82044 4.87543E-5 41022 0 5.03525E-4
15-78487052-C-T p.Asp50Asn missense ACSBG1 2 81882 2.44254E-5 40941 0 1.20055E-5
15-78487053-G-A p.Thr83Met missense ACSBG1 2 81790 2.44529E-5 40895 0 3.18593E-5
15-78487061-C-T p.Ala47Thr missense ACSBG1 1 81414 1.22829E-5 40707 0 3.18613E-5
15-78487062-G-A p.Ala80Val missense ACSBG1 5 81182 6.159E-5 40591 0 1.27413E-4
15-78487072-T-C c.233-4A>G splice_region ACSBG1 1 80906 1.236E-5 40453 0 NA
15-78487075-G-A c.233-7C>T splice_region ACSBG1 1 80702 1.23913E-5 40351 0 NA
15-78500071-T-TACC c.-90+2_-90+3insGGT splice_donor ACSBG1 1 7704 1.29803E-4 3852 0 NA
15-78500107-G-A c.-123C>T 5_prime_UTR_premature_start_codon_gain ACSBG1 2680 5744 0.466574 2872 193 0.797842
15-78500122-A-C c.-138T>G 5_prime_UTR_premature_start_codon_gain ACSBG1 3 21070 1.42383E-4 10535 0 6.37674E-5
15-78500354-C-T p.Trp74* stop_gained ACSBG1 1 81596 1.22555E-5 40798 0 NA
15-78500367-T-C p.Asn70Ser missense ACSBG1 5 82096 6.09043E-5 41048 0 NA
15-78500375-C-G p.Glu67Asp missense ACSBG1 1 82240 1.21595E-5 41120 0 6.37633E-5
15-78500392-C-T p.Glu62Lys missense ACSBG1 2 82398 2.42724E-5 41199 0 6.25E-4
15-78500393-G-A p.Leu61Leu synonymous ACSBG1 10 82414 1.21339E-4 41207 0 1.59327E-4
15-78500393-G-C p.Leu61Leu synonymous ACSBG1 1 82414 1.21339E-5 41207 0 NA
15-78500395-G-A p.Leu61Phe missense ACSBG1 2 82448 2.42577E-5 41224 0 NA
15-78500401-G-A p.His59Tyr missense ACSBG1 2 82446 2.42583E-5 41223 0 1.7085E-5
15-78500424-G-A p.Pro51Leu missense ACSBG1 49 82144 5.96513E-4 41072 1 0.00375
15-78500446-TG-T c.132-3delC splice_region ACSBG1 4 81300 4.92005E-5 40650 0 1.91106E-5
15-78500449-G-A c.132-5C>T splice_region ACSBG1 18 81198 2.2168E-4 40599 0 0.0025
15-78501482-A-G n.525+5T>C splice_region ACSBG1 1 8854 1.12943E-4 4427 0 1.27389E-4
15-78501565-C-A p.Gly26Val missense ACSBG1 1 8984 1.11309E-4 4492 0 7.80701E-6
15-78501579-T-C p.Arg21Arg synonymous ACSBG1 1 8964 1.11557E-4 4482 0 7.80677E-6
15-78504888-T-C c.50+3A>G splice_region ACSBG1 1 9018 1.10889E-4 4509 0 2.34533E-5
15-78504890-C-T c.50+1G>A splice_donor ACSBG1 1 9016 1.10914E-4 4508 0 9.3006E-5
15-78504891-G-A p.Ala17Val missense+splice_region ACSBG1 1 9016 1.10914E-4 4508 0 0.00223173
15-78504892-C-T p.Ala17Thr missense+splice_region ACSBG1 1 9014 1.10939E-4 4507 0 6.25E-4
15-78504979-G-A c.-39C>T 5_prime_UTR_premature_start_codon_gain ACSBG1 1 8986 1.11284E-4 4493 0 1.56961E-5
15-78505011-G-A c.-71C>T 5_prime_UTR_premature_start_codon_gain ACSBG1 3 8912 3.36625E-4 4456 0 NA
15-78505052-G-A c.-112C>T 5_prime_UTR_premature_start_codon_gain ACSBG1 21 8258 0.00254299 4129 0 0.00191436
15-78505066-G-T c.-126C>A splice_region ACSBG1 3 7992 3.75375E-4 3996 0 0.00263158
15-78518945-T-C p.Asp45Gly missense+splice_region ACSBG1 1 1016 9.84252E-4 508 0 0.00365244
15-78518951-C-CA c.132-5_132-4insT splice_region ACSBG1 25 968 0.0258264 484 0 0.22977
15-78518951-CA-C c.132-5delT splice_region ACSBG1 5 1024 0.00488281 512 0 0.216102
15-78518951-C-CAA c.132-5_132-4insTT splice_region ACSBG1 5 1036 0.00482625 518 0 0.0254237
15-78518951-C-CAAAA c.132-5_132-4insTTTT splice_region ACSBG1 1 1040 9.61538E-4 520 0 NA
15-78526713-C-A p.Ser44Ile missense+splice_region ACSBG1 1 81756 1.22315E-5 40878 0 NA
15-78526730-T-C p.Gln38Gln synonymous ACSBG1 4 82210 4.86559E-5 41105 0 2.48785E-5
15-78526731-T-C p.Gln38Arg missense ACSBG1 1 82224 1.21619E-5 41112 0 NA
15-78526744-C-G p.Val34Leu missense ACSBG1 1 82590 1.2108E-5 41295 0 7.99028E-6
15-78526746-A-G p.Ile33Thr missense ACSBG1 1 82662 1.20975E-5 41331 0 1.19795E-5
15-78526747-T-A p.Ile33Phe missense ACSBG1 1 82682 1.20945E-5 41341 0 3.18573E-5
15-78526754-C-T p.Gln30Gln synonymous ACSBG1 14 82796 1.6909E-4 41398 0 0.00125
15-78526758-C-T p.Arg29Gln missense ACSBG1 1 82858 1.20688E-5 41429 0 5.03525E-4
15-78526758-C-A p.Arg29Leu missense ACSBG1 1 82858 1.20688E-5 41429 0 NA
15-78526760-G-C p.Ser28Arg missense ACSBG1 1 82840 1.20715E-5 41420 0 NA
15-78526762-T-C p.Ser28Gly missense ACSBG1 1 82872 1.20668E-5 41436 0 NA
15-78526770-G-A p.Pro25Leu missense ACSBG1 1 82954 1.20549E-5 41477 0 7.97645E-6
15-78526772-G-C p.Thr24Thr synonymous ACSBG1 1 82942 1.20566E-5 41471 0 NA
15-78526773-G-T p.Thr24Asn missense ACSBG1 2 82958 2.41086E-5 41479 0 3.58949E-5
15-78526775-C-T p.Glu23Glu synonymous ACSBG1 1 82980 1.20511E-5 41490 0 NA
15-78526779-C-T p.Arg22Lys missense ACSBG1 1 82994 1.20491E-5 41497 0 NA
15-78526797-G-C p.Pro16Arg missense ACSBG1 2 83036 2.40859E-5 41518 0 7.65111E-4
15-78526803-C-T p.Gly14Glu missense ACSBG1 1 83012 1.20465E-5 41506 0 2.39433E-5
15-78526804-C-T p.Gly14Arg missense ACSBG1 1 82988 1.20499E-5 41494 0 3.59221E-5
15-78526805-G-A c.-156C>T 5_prime_UTR_premature_start_codon_gain ACSBG1 1 83004 1.20476E-5 41502 0 3.18735E-5
15-78526816-C-T p.Gly10Ser missense ACSBG1 2 83012 2.40929E-5 41506 0 6.37552E-5
15-78526817-G-A c.-168C>T 5_prime_UTR_premature_start_codon_gain ACSBG1 29 83002 3.49389E-4 41501 0 3.08049E-4
15-78526835-G-A p.Arg3Arg synonymous ACSBG1 9 82934 1.0852E-4 41467 0 2.86917E-4
15-78526835-G-C p.Arg3Arg synonymous ACSBG1 1 82934 1.20578E-5 41467 0 8.29022E-6
15-78526836-C-T p.Arg3His missense ACSBG1 6 82908 7.23694E-5 41454 0 0.00151057
15-78526837-G-A p.Arg3Cys missense ACSBG1 1 82902 1.20624E-5 41451 0 6.37511E-5
15-78526851-G-A c.-8C>T 5_prime_UTR_premature_start_codon_gain ACSBG1 1 82686 1.20939E-5 41343 0 2.50192E-5
15-78526922-T-G c.-79A>C 5_prime_UTR_premature_start_codon_gain ACSBG1 1 75764 1.31989E-5 37882 0 NA
15-78526937-G-A c.-94C>T 5_prime_UTR_premature_start_codon_gain ACSBG1 1 73426 1.36192E-5 36713 0 NA
15-78526945-G-C c.-102C>G 5_prime_UTR_premature_start_codon_gain ACSBG1 1 73228 1.3656E-5 36614 0 NA
15-78537873-G-A c.-326C>T 5_prime_UTR_premature_start_codon_gain ACSBG1 1 4 0.25 2 0 0.231511
15-78537990-T-C c.-443A>G 5_prime_UTR_premature_start_codon_gain ACSBG1 3 8 0.375 4 0 0.232681