Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-40023710-A-G c.*353T>C splice_region ACLY 24 45180 5.31209E-4 22590 0 0.00105136
17-40023827-C-T c.*236G>A splice_region ACLY 1 53896 1.85543E-5 26948 0 NA
17-40024081-C-T p.Pro1096Pro synonymous ACLY 1 83188 1.2021E-5 41594 0 0.00100705
17-40024082-G-T p.Pro1096Gln missense ACLY 1 83202 1.20189E-5 41601 0 4.02531E-6
17-40024093-T-C p.Ser1092Ser synonymous ACLY 8 83224 9.61261E-5 41612 0 6.3678E-5
17-40024122-G-A p.Leu1083Leu synonymous ACLY 5 83146 6.01352E-5 41573 0 8.2481E-6
17-40024124-C-A p.Gly1082Val missense ACLY 1 83150 1.20265E-5 41575 0 NA
17-40024130-T-C p.Lys1080Arg missense ACLY 1 83114 1.20317E-5 41557 0 NA
17-40024137-T-A p.Arg1078Trp missense ACLY 1 83034 1.20433E-5 41517 0 4.03789E-6
17-40024138-C-T p.Lys1077Lys synonymous ACLY 1 83026 1.20444E-5 41513 0 NA
17-40024165-G-A c.3212-8C>T splice_region ACLY 2 82146 2.43469E-5 41073 0 NA
17-40024956-A-T c.3211+6T>A splice_region ACLY 1 82992 1.20494E-5 41496 0 7.96946E-6
17-40024963-A-G p.Ile1070Ile splice_region+synonymous ACLY 3 83070 3.61141E-5 41535 0 0.00302115
17-40025297-G-A p.Arg1045Trp missense+splice_region ACLY 6 83302 7.20271E-5 41651 0 9.55353E-5
17-40025297-G-C p.Arg1045Gly missense+splice_region ACLY 1 83302 1.20045E-5 41651 0 8.23696E-6
17-40025299-G-A p.Thr1044Ile missense ACLY 2 83314 2.40056E-5 41657 0 NA
17-40025336-C-T p.Ala1032Thr missense ACLY 3 83320 3.60058E-5 41660 0 7.41339E-5
17-40025363-G-A p.Leu1023Leu synonymous ACLY 2 83264 2.402E-5 41632 0 NA
17-40025366-T-C p.Ile1022Val missense ACLY 2 83268 2.40188E-5 41634 0 1.19972E-5
17-40025375-G-A p.Pro1019Ser missense ACLY 2 83238 2.40275E-5 41619 1 NA
17-40025376-C-T p.Lys1018Lys splice_region+synonymous ACLY 8 83232 9.61169E-5 41616 0 9.55779E-5
17-40025380-T-TTCGA c.3052-3_3052-2insTCGA splice_region ACLY 6 83192 7.21223E-5 41596 3 NA
17-40025380-TG-T c.3052-3delC splice_region ACLY 1 83200 1.20192E-5 41600 0 NA
17-40025730-C-G p.Ser1016Ser synonymous ACLY 2 83290 2.40125E-5 41645 0 NA
17-40025730-C-T p.Ser1016Ser synonymous ACLY 2 83290 2.40125E-5 41645 0 8.23981E-6
17-40025760-A-G p.Tyr1006Tyr synonymous ACLY 3 83320 3.60058E-5 41660 0 NA
17-40025790-C-T p.Gln996Gln synonymous ACLY 2 83300 2.40096E-5 41650 0 NA
17-40025797-A-G p.Val994Ala missense ACLY 1 83300 1.20048E-5 41650 0 3.97643E-6
17-40025799-G-A p.Tyr993Tyr synonymous ACLY 4 83304 4.80169E-5 41652 0 3.1839E-5
17-40025803-T-A p.Asp992Val missense ACLY 2 83306 2.40079E-5 41653 0 3.97646E-6
17-40025816-G-C p.Gln988Glu missense ACLY 2 83274 2.40171E-5 41637 0 3.1841E-5
17-40025840-T-C p.Ile980Val missense+splice_region ACLY 3 83060 3.61185E-5 41530 0 NA
17-40027942-C-T p.Ser979Ser splice_region+synonymous ACLY 2 83310 2.40067E-5 41655 0 1.19335E-5
17-40027948-C-T p.Val977Val synonymous ACLY 1 83334 1.19999E-5 41667 0 NA
17-40027991-A-G p.Met963Thr missense ACLY 3 83398 3.59721E-5 41699 0 8.23696E-6
17-40028002-A-C p.Phe959Leu missense ACLY 1 83390 1.19918E-5 41695 0 7.15751E-5
17-40028014-G-A p.Ile955Ile synonymous ACLY 1 83394 1.19913E-5 41697 0 NA
17-40028079-G-T p.Arg934Arg synonymous ACLY 2 83358 2.39929E-5 41679 0 3.18776E-5
17-40028081-T-TC p.Asp933fs frameshift ACLY 1 83356 1.19967E-5 41678 0 NA
17-40028285-G-A p.Ile931Ile splice_region+synonymous ACLY 2 83122 2.4061E-5 41561 0 5.97376E-5
17-40028291-G-A p.Leu929Leu synonymous ACLY 1 83158 1.20253E-5 41579 0 3.9814E-6
17-40028297-C-A p.Gly927Gly synonymous ACLY 2 83180 2.40442E-5 41590 0 3.98115E-6
17-40028303-G-C p.Thr925Thr synonymous ACLY 3 83196 3.60594E-5 41598 0 6.25E-4
17-40028317-C-T p.Val921Ile missense ACLY 1 83232 1.20146E-5 41616 0 NA
17-40028336-C-T p.Ala914Ala synonymous ACLY 1 83246 1.20126E-5 41623 0 4.9518E-5
17-40028350-T-C p.Thr910Ala missense ACLY 3 83234 3.6043E-5 41617 0 6.37836E-5
17-40028369-G-A p.Ala903Ala synonymous ACLY 2 83262 2.40206E-5 41631 0 6.37186E-5
17-40028378-G-A p.His900His synonymous ACLY 2 83258 2.40217E-5 41629 0 2.54891E-4
17-40028410-T-A p.Ile890Phe missense ACLY 74 83254 8.88846E-4 41627 0 0.00125
17-40028442-TG-T c.2643-8delC splice_region ACLY 1234 83052 0.0148582 41526 9 0.0144591
17-40028442-T-C c.2643-7A>G splice_region ACLY 2 83086 2.40714E-5 41543 0 NA
17-40028443-G-T c.2643-8C>A splice_region ACLY 1 82956 1.20546E-5 41478 0 4.25641E-5
17-40030059-C-G c.2642+5G>C splice_region ACLY 3 81084 3.69987E-5 40542 0 8.88636E-6
17-40030059-C-A c.2642+5G>T splice_region ACLY 1 81084 1.23329E-5 40542 0 NA
17-40030060-T-G c.2642+4A>C splice_region ACLY 2 81080 2.4667E-5 40540 0 NA
17-40030061-C-T c.2642+3G>A splice_region ACLY 42 81112 5.17803E-4 40556 0 0.00318471
17-40030066-T-C p.Lys880Lys splice_region+synonymous ACLY 3 81248 3.6924E-5 40624 0 NA
17-40030075-C-G p.Trp877Cys missense ACLY 1 81440 1.2279E-5 40720 0 NA
17-40030086-C-T p.Gly874Ser missense ACLY 2 81664 2.44906E-5 40832 0 3.18532E-5
17-40030087-G-A p.Leu873Leu synonymous ACLY 14 81746 1.71262E-4 40873 0 5.62946E-4
17-40030090-G-A p.Val872Val synonymous ACLY 1 81782 1.22276E-5 40891 0 NA
17-40030093-C-T p.Gly871Gly synonymous ACLY 2 81976 2.43974E-5 40988 0 5.95856E-5
17-40030096-G-A p.Gly870Gly synonymous ACLY 1 82036 1.21898E-5 41018 0 NA
17-40030100-A-G p.Ile869Thr missense ACLY 1 82342 1.21445E-5 41171 0 NA
17-40030101-T-C p.Ile869Val missense ACLY 1 82358 1.21421E-5 41179 0 6.26959E-4
17-40030105-C-G p.Met867Ile missense ACLY 2 82512 2.42389E-5 41256 0 NA
17-40030135-C-T p.Met857Ile missense ACLY 2 82978 2.41028E-5 41489 0 NA
17-40030150-G-A p.Leu852Leu synonymous ACLY 2 83014 2.40923E-5 41507 0 6.6189E-5
17-40030163-C-G p.Arg848Pro missense ACLY 2 82956 2.41092E-5 41478 0 5.04032E-4
17-40030171-G-A p.Cys845Cys synonymous ACLY 10 82896 1.20633E-4 41448 0 0.001875
17-40030189-C-T p.Ser839Ser synonymous ACLY 7 82762 8.45799E-5 41381 0 2.42414E-4
17-40030202-C-T p.Arg835His missense ACLY 1 82496 1.21218E-5 41248 0 NA
17-40030215-G-GCTCCCTGGCCCAGGAGTAGTCCATGGGCACGGTTGGGGGCGGCAC p.Glu830_Leu831insValProProProThrValProMetAspTyrSerTrpAlaArgGlu conservative_inframe_insertion ACLY 2 82168 2.43404E-5 41084 1 NA
17-40030221-G-A c.2488-3C>T splice_region ACLY 1 81866 1.22151E-5 40933 0 8.75013E-6
17-40034351-C-T c.2487+5G>A splice_region ACLY 2 82156 2.43439E-5 41078 0 3.18573E-5
17-40034382-C-T p.Val821Met missense ACLY 1 82792 1.20785E-5 41396 0 NA
17-40034385-T-C p.Thr820Ala missense ACLY 1 82896 1.20633E-5 41448 0 1.73145E-5
17-40034392-C-T p.Pro817Pro synonymous ACLY 3 82876 3.61987E-5 41438 0 6.3804E-5
17-40034397-C-G p.Val816Leu missense ACLY 1 82916 1.20604E-5 41458 0 8.58797E-6
17-40034417-ACT-A p.Val809fs frameshift ACLY 6 82922 7.23572E-5 41461 0 2.40405E-4
17-40034421-C-CTT p.Gly808fs frameshift ACLY 6 82956 7.23275E-5 41478 0 2.41043E-4
17-40034423-T-C p.Asn807Ser missense ACLY 2 82944 2.41127E-5 41472 0 5.17117E-5
17-40034430-C-T p.Val805Met missense ACLY 1 82846 1.20706E-5 41423 0 1.74204E-5
17-40034431-G-A p.Leu804Leu synonymous ACLY 89 82852 0.0010742 41426 0 0.00133869
17-40034457-G-A c.2394-8C>T splice_region ACLY 1 82178 1.21687E-5 41089 0 3.61985E-5
17-40035043-C-T c.2393+7G>A splice_region ACLY 1 83274 1.20085E-5 41637 0 8.24688E-6
17-40035080-C-T p.Arg788Gln missense ACLY 5 83338 5.99966E-5 41669 0 6.37552E-5
17-40035081-G-A p.Arg788Trp missense ACLY 4 83340 4.79962E-5 41670 0 3.18837E-5
17-40035106-C-T p.Leu779Leu synonymous ACLY 1 83346 1.19982E-5 41673 0 NA
17-40035126-C-T p.Val773Ile missense ACLY 1 83338 1.19993E-5 41669 0 3.57901E-5
17-40035141-C-A p.Ala768Ser missense ACLY 2 83332 2.40004E-5 41666 0 4.11991E-5
17-40035146-T-C p.Asn766Ser missense ACLY 4 83312 4.80123E-5 41656 0 2.47194E-5
17-40035164-T-C p.His760Arg missense ACLY 1 83286 1.20068E-5 41643 0 NA
17-40039369-C-A c.2265+6G>T splice_region ACLY 1 83148 1.20267E-5 41574 0 NA
17-40039372-T-C c.2265+3A>G splice_region ACLY 1 83170 1.20236E-5 41585 0 1.24189E-4
17-40039381-G-A p.Ser753Ser synonymous ACLY 2 83230 2.40298E-5 41615 0 NA
17-40039390-G-A p.Thr750Thr synonymous ACLY 1 83252 1.20117E-5 41626 0 NA
17-40039399-C-T p.Thr747Thr synonymous ACLY 4 83240 4.80538E-5 41620 0 3.1841E-5
17-40039400-G-A p.Thr747Met missense ACLY 1 83250 1.2012E-5 41625 0 4.96089E-5
17-40039435-G-A p.Arg735Arg synonymous ACLY 26 83160 3.1265E-4 41580 0 1.90514E-4
17-40039436-C-T p.Arg735His missense ACLY 1 83172 1.20233E-5 41586 0 NA
17-40039437-G-A p.Arg735Cys missense ACLY 1 83182 1.20218E-5 41591 0 NA
17-40039441-C-T p.Glu733Glu synonymous ACLY 2 83166 2.40483E-5 41583 0 NA
17-40039444-C-G p.Lys732Asn missense ACLY 1 83156 1.20256E-5 41578 0 NA
17-40039452-C-G p.Gly730Arg missense ACLY 2 83092 2.40697E-5 41546 0 8.29765E-6
17-40039454-C-T p.Arg729Gln missense ACLY 12 83096 1.44411E-4 41548 0 0.00100705
17-40039455-G-A p.Arg729Trp missense ACLY 5 83066 6.01931E-5 41533 0 4.38418E-5
17-40039461-T-C p.Ile727Val missense ACLY 5 83054 6.02018E-5 41527 0 1.11588E-4
17-40039466-T-C p.Tyr725Cys missense ACLY 1 83042 1.20421E-5 41521 0 3.9867E-6
17-40039467-A-C p.Tyr725Asp missense ACLY 185 83008 0.0022287 41504 2 0.0040282
17-40039476-T-C p.Thr722Ala missense ACLY 4 82956 4.82183E-5 41478 0 3.19219E-5
17-40039478-C-A p.Gly721Val missense ACLY 1 82930 1.20584E-5 41465 0 8.32834E-6
17-40039484-A-G p.Ile719Thr missense+splice_region ACLY 3 82898 3.61891E-5 41449 0 6.66811E-5
17-40039487-T-TC c.2155-3_2155-2insG splice_region ACLY 2 82884 2.41301E-5 41442 1 NA
17-40040456-A-G p.Val715Ala missense ACLY 3 83102 3.61002E-5 41551 0 5.03525E-4
17-40040462-A-G p.Ile713Thr missense ACLY 1 83122 1.20305E-5 41561 0 NA
17-40040472-C-T p.Val710Ile missense ACLY 2 83154 2.40518E-5 41577 0 6.25E-4
17-40040492-C-T p.Arg703His missense ACLY 1 83208 1.20181E-5 41604 0 3.97668E-6
17-40040493-G-A p.Arg703Cys missense ACLY 3 83200 3.60577E-5 41600 0 5.77091E-5
17-40040500-A-G p.His700His synonymous ACLY 1 83218 1.20166E-5 41609 0 3.57898E-5
17-40040512-T-C p.Thr696Thr synonymous ACLY 9 83184 1.08194E-4 41592 0 3.57924E-5
17-40040517-A-T p.Ser695Thr missense ACLY 1 83150 1.20265E-5 41575 0 NA
17-40040518-G-A p.Gly694Gly synonymous ACLY 1 83168 1.20239E-5 41584 0 1.65008E-5
17-40040521-C-T p.Pro693Pro synonymous ACLY 4 83158 4.81012E-5 41579 0 3.57944E-5
17-40040522-G-A p.Pro693Leu missense ACLY 1 83148 1.20267E-5 41574 0 5.03525E-4
17-40040531-T-TCCCCACCAA c.2073-5_2073-4insTTGGTGGGG splice_region ACLY 3 83086 3.61072E-5 41543 1 NA
17-40040532-T-TGGCCACGCCCTCATAGACGCCATCCGTGGTCC c.2073-6_2073-5insGGACCACGGATGGCGTCTATGAGGGCGTGGCC splice_region ACLY 2 83048 2.40825E-5 41524 1 NA
17-40042374-C-A p.Gly688Val missense ACLY 1 82598 1.21068E-5 41299 0 NA
17-40042391-A-G p.Tyr682Tyr synonymous ACLY 1 82854 1.20694E-5 41427 0 3.18451E-5
17-40042392-T-C p.Tyr682Cys missense ACLY 126 82856 0.00152071 41428 1 0.00248376
17-40042404-G-A p.Thr678Met missense ACLY 1 82938 1.20572E-5 41469 0 2.47117E-5
17-40042409-C-A p.Arg676Arg synonymous ACLY 1 82974 1.2052E-5 41487 0 8.23696E-6
17-40042411-G-C p.Arg676Gly missense ACLY 4 82994 4.81963E-5 41497 0 6.36699E-5
17-40042433-G-A p.Asn668Asn synonymous ACLY 5 83072 6.01888E-5 41536 0 3.18329E-5
17-40042436-G-A p.Ser667Ser synonymous ACLY 3 83084 3.6108E-5 41542 0 NA
17-40042441-T-C p.Met666Val missense ACLY 1 83076 1.20372E-5 41538 0 4.11821E-5
17-40042442-G-A p.Gly665Gly synonymous ACLY 1 83086 1.20357E-5 41543 0 NA
17-40042444-CTCCGGA-C p.Ser663_Gly664del conservative_inframe_deletion ACLY 2 83090 2.40703E-5 41545 0 NA
17-40042447-C-T p.Gly664Arg missense ACLY 1 83082 1.20363E-5 41541 0 7.95317E-6
17-40042448-G-A p.Ser663Ser synonymous ACLY 3 83080 3.61098E-5 41540 0 2.38591E-5
17-40042452-C-T p.Arg662His missense ACLY 1 83082 1.20363E-5 41541 0 8.23642E-6
17-40042461-T-A p.Tyr659Phe missense ACLY 1 83064 1.20389E-5 41532 0 3.18329E-5
17-40042463-G-A p.Ala658Ala synonymous ACLY 1 83064 1.20389E-5 41532 0 NA
17-40042469-G-A p.Ser656Ser synonymous ACLY 23 83018 2.77048E-4 41509 0 6.68619E-4
17-40042472-G-A p.Gly655Gly synonymous ACLY 2 83006 2.40946E-5 41503 0 NA
17-40042477-G-A p.Pro654Ser missense ACLY 1 82982 1.20508E-5 41491 0 6.25E-4
17-40042479-C-T p.Arg653His missense ACLY 3 82950 3.61664E-5 41475 0 5.04032E-4
17-40042480-G-A p.Arg653Cys missense ACLY 1 82952 1.20552E-5 41476 0 3.1841E-5
17-40042487-T-A p.Lys650Asn missense ACLY 2 82952 2.41103E-5 41476 0 3.18532E-5
17-40042489-T-G p.Lys650Gln missense ACLY 1 82936 1.20575E-5 41468 0 NA
17-40042502-G-A p.Asn645Asn synonymous ACLY 1 82872 1.20668E-5 41436 0 6.36862E-5
17-40042524-T-C p.Asn638Ser missense ACLY 1 82738 1.20863E-5 41369 0 NA
17-40042541-C-A p.Gly632Gly synonymous ACLY 2 82598 2.42137E-5 41299 0 4.01981E-6
17-40042550-G-C p.Ile629Met missense ACLY 6 82434 7.27855E-5 41217 0 3.86959E-5
17-40042552-T-A p.Ile629Phe missense ACLY 1 82390 1.21374E-5 41195 0 NA
17-40042561-C-CAGTGGCAGGTCCGATGATGGTCACTCCCTTCTGGTCCGCCTTCTTGATCAGCTTTCT c.1876-1_1876insAGAAAGCTGATCAAGAAGGCGGACCAGAAGGGAGTGACCATCATCGGACCTGCCACT splice_acceptor ACLY 2 82140 2.43487E-5 41070 1 NA
17-40042561-C-CAGTGGCAGGTCCGATGATGGTCACTCCCTTCTGGTCCGCCTTCTTGATCAGCTTT c.1876-1_1876insAAAGCTGATCAAGAAGGCGGACCAGAAGGGAGTGACCATCATCGGACCTGCCACT splice_acceptor ACLY 2 82138 2.43493E-5 41069 1 NA
17-40042565-T-C c.1876-4A>G splice_region ACLY 7 81978 8.53888E-5 40989 0 1.59307E-4
17-40042569-G-A c.1876-8C>T splice_region ACLY 117 81890 0.00142875 40945 1 0.00293124
17-40043845-A-G c.1875+7T>C splice_region ACLY 6 83300 7.20288E-5 41650 0 3.18512E-5
17-40043861-T-G p.Gly622Gly synonymous ACLY 1 82746 1.20852E-5 41373 0 0.0730111
17-40043864-G-A p.Ile621Ile synonymous ACLY 1 83194 1.20201E-5 41597 0 3.18674E-5
17-40043868-A-G p.Ile620Thr missense ACLY 1 83266 1.20097E-5 41633 0 6.37308E-5
17-40043868-A-C p.Ile620Ser missense ACLY 2 83266 2.40194E-5 41633 0 2.38681E-5
17-40043876-T-A p.Gly617Gly synonymous ACLY 2 83288 2.40131E-5 41644 0 NA
17-40043888-C-T p.Ala613Ala synonymous ACLY 1 83302 1.20045E-5 41651 0 6.75977E-5
17-40043902-GC-TT p.LysLeu608LysMet missense ACLY 1 83324 1.20013E-5 41662 0 NA
17-40043905-T-C p.Lys608Glu missense ACLY 1 83326 1.20011E-5 41663 0 NA
17-40043945-G-A p.Ile594Ile synonymous ACLY 1 83328 1.20008E-5 41664 0 7.95279E-6
17-40043952-C-T p.Arg592Gln missense ACLY 17 83296 2.04091E-4 41648 0 1.40209E-4
17-40043953-G-A p.Arg592Trp missense ACLY 2 83292 2.40119E-5 41646 0 4.95139E-5
17-40043958-T-TGGGCATAGTTCATGGTCTCCATGGTGCTGTCATAGGCAGAGCGGAG c.1771-3_1771-2insCTCCGCTCTGCCTATGACAGCACCATGGAGACCATGAACTATGCCC splice_region ACLY 4 83272 4.80354E-5 41636 2 NA
17-40043960-G-C c.1771-4C>G splice_region ACLY 1 83258 1.20109E-5 41629 0 NA
17-40048482-CGCATAGTTCATGGTCCCCACCCCCCACCCTCCAGAGCCCAGTGATCTACCTGG-C p.Gln590fs frameshift ACLY 380 78906 0.00481586 39453 0 0.00797864
17-40048527-T-C c.1770+5A>G splice_region ACLY 1 81096 1.23311E-5 40548 0 2.08309E-5
17-40048544-C-T p.Met586Ile missense ACLY 2 83038 2.40854E-5 41519 0 1.24966E-5
17-40048549-T-A p.Thr585Ser missense ACLY 1 83104 1.20331E-5 41552 0 NA
17-40048566-T-C p.Tyr579Cys missense ACLY 2 83264 2.402E-5 41632 0 1.65785E-5
17-40048577-G-A p.Leu575Leu synonymous ACLY 1 83312 1.20031E-5 41656 0 NA
17-40048601-A-G p.Asp567Asp synonymous ACLY 5 83348 5.99894E-5 41674 0 7.95425E-6
17-40048603-C-G p.Asp567His missense ACLY 4 83350 4.79904E-5 41675 0 NA
17-40048610-C-T p.Pro564Pro synonymous ACLY 3 83356 3.59902E-5 41678 0 1.64807E-5
17-40048611-G-A p.Pro564Leu missense ACLY 2 83356 2.39935E-5 41678 0 9.5645E-5
17-40048613-A-G p.His563His synonymous ACLY 75271 83186 0.904852 41593 34171 0.92278
17-40048624-T-A p.Met560Leu missense ACLY 1 83370 1.19947E-5 41685 0 3.9769E-6
17-40048624-T-C p.Met560Val missense ACLY 2 83370 2.39894E-5 41685 0 NA
17-40048630-C-G p.Asp558His missense ACLY 2 83368 2.399E-5 41684 0 3.97678E-6
17-40048632-G-A p.Ala557Val missense ACLY 3 83360 3.59885E-5 41680 0 3.18634E-5
17-40048645-A-G p.Phe553Leu missense ACLY 2 83364 2.39912E-5 41682 0 3.97703E-6
17-40048652-G-A p.Ile550Ile synonymous ACLY 41 83354 4.91878E-4 41677 0 0.00117879
17-40048654-T-C p.Ile550Val missense ACLY 5 83356 5.99837E-5 41678 0 3.18857E-5
17-40048661-C-T p.Glu547Glu synonymous ACLY 1 83352 1.19973E-5 41676 0 3.97801E-6
17-40048674-C-A p.Trp543Leu missense ACLY 1 83324 1.20013E-5 41662 0 NA
17-40048697-C-CCCAGTGAAAGGGTAGACCATGGCAG p.Asp536fs frameshift ACLY 2 83282 2.40148E-5 41641 1 NA
17-40049286-G-A p.Thr534Ile missense+splice_region ACLY 1 82994 1.20491E-5 41497 0 3.18512E-5
17-40049309-C-G p.Val526Val synonymous ACLY 2 83098 2.4068E-5 41549 0 8.27979E-6
17-40049320-C-T p.Glu523Lys missense ACLY 179 83098 0.00215408 41549 2 0.00429936
17-40049321-G-A p.Asp522Asp synonymous ACLY 3 83120 3.60924E-5 41560 0 3.1858E-5
17-40049325-C-T p.Arg521Gln missense ACLY 1 83128 1.20296E-5 41564 0 3.98153E-6
17-40049355-C-T p.Gly511Asp missense ACLY 1 83122 1.20305E-5 41561 0 NA
17-40049362-C-T p.Val509Met missense ACLY 6 83132 7.21744E-5 41566 0 6.36983E-5
17-40049363-G-C p.Ala508Ala synonymous ACLY 4 83120 4.81232E-5 41560 0 9.55536E-5
17-40049367-C-T p.Arg507Gln missense ACLY 2 83148 2.40535E-5 41574 0 3.98096E-6
17-40049368-G-A p.Arg507Trp missense ACLY 2 83144 2.40547E-5 41572 0 1.59245E-5
17-40049377-T-G p.Met504Leu missense ACLY 2 83164 2.40489E-5 41582 0 NA
17-40049385-A-G p.Val501Ala missense ACLY 1 83170 1.20236E-5 41585 0 NA
17-40049386-C-T p.Val501Met missense ACLY 6 83170 7.21414E-5 41585 0 1.27413E-4
17-40049396-G-A p.Thr497Thr synonymous ACLY 1 83182 1.20218E-5 41591 0 1.99375E-5
17-40049403-C-T p.Arg495His missense ACLY 1 83142 1.20276E-5 41571 0 1.19808E-5
17-40049404-G-A p.Arg495Cys missense ACLY 21 83128 2.52622E-4 41564 0 2.24929E-4
17-40049423-C-G p.Lys488Asn missense ACLY 1 82918 1.20601E-5 41459 0 NA
17-40049434-G-A c.1460-7C>T splice_region ACLY 1 82848 1.20703E-5 41424 0 4.20323E-5
17-40052872-C-A c.1459+1G>T splice_donor ACLY 1 81776 1.22285E-5 40888 0 NA
17-40052881-G-A p.Ser484Phe missense ACLY 4 81750 4.89297E-5 40875 0 6.37064E-5
17-40054011-T-G p.Met474Leu missense ACLY 18 82650 2.17786E-4 41325 0 0.0020202
17-40054017-G-C p.Pro472Ala missense ACLY 2 82364 2.42825E-5 41182 0 9.36575E-6
17-40054019-T-C p.Lys471Arg missense ACLY 2 82100 2.43605E-5 41050 0 NA
17-40054032-C-T p.Ala467Thr missense ACLY 1 82050 1.21877E-5 41025 0 1.84071E-5
17-40054036-C-T p.Ala465Ala synonymous ACLY 6 82080 7.30994E-5 41040 0 6.25E-4
17-40054041-C-T p.Val464Met missense ACLY 1 82218 1.21628E-5 41109 0 4.534E-5
17-40054061-G-A p.Ser457Phe missense ACLY 2 82452 2.42565E-5 41226 0 3.59241E-5
17-40054075-C-T p.Arg452Arg synonymous ACLY 14 82512 1.69672E-4 41256 0 6.25E-4
17-40054097-G-A c.1339-5C>T splice_region ACLY 1 82408 1.21347E-5 41204 0 NA
17-40054876-G-C c.1338+8C>G splice_region ACLY 1 82052 1.21874E-5 41026 0 6.37227E-5
17-40054880-C-A c.1338+4G>T splice_region ACLY 1 82126 1.21764E-5 41063 0 6.36821E-5
17-40054884-C-T p.Ser446Ser splice_region+synonymous ACLY 33 82162 4.01646E-4 41081 0 0.003125
17-40054885-G-A p.Ser446Leu missense+splice_region ACLY 6 82178 7.30122E-5 41089 0 3.18512E-5
17-40054895-C-T p.Gly443Arg missense ACLY 1 82338 1.21451E-5 41169 0 8.64364E-6
17-40054901-C-T p.Ala441Thr missense ACLY 4 82438 4.85213E-5 41219 0 3.18451E-5
17-40054902-G-A p.Asn440Asn synonymous ACLY 3 82478 3.63733E-5 41239 0 3.19456E-5
17-40054929-C-T p.Ala431Ala synonymous ACLY 3 82720 3.62669E-5 41360 0 4.2754E-5
17-40054940-G-C p.Pro428Ala missense ACLY 1 82804 1.20767E-5 41402 0 NA
17-40054951-A-G p.Ile424Thr missense ACLY 1 82904 1.20621E-5 41452 0 NA
17-40054957-C-T p.Arg422Gln missense ACLY 3 82914 3.61821E-5 41457 0 5.97851E-5
17-40054958-G-A p.Arg422Trp missense ACLY 1 82924 1.20592E-5 41462 0 NA
17-40054964-C-T p.Gly420Ser missense ACLY 1 82920 1.20598E-5 41460 0 NA
17-40054967-G-C p.Leu419Val missense ACLY 1 82952 1.20552E-5 41476 0 3.99081E-6
17-40054991-T-C p.Met411Val missense ACLY 1 83042 1.20421E-5 41521 0 NA
17-40055007-A-G p.Phe405Phe synonymous ACLY 1 83056 1.20401E-5 41528 0 NA
17-40055024-T-A p.Ile400Phe missense ACLY 1 82982 1.20508E-5 41491 0 NA
17-40055030-T-G p.Thr398Pro missense ACLY 3 82970 3.61576E-5 41485 0 1.59854E-5
17-40055037-C-CCCGACTTCTCCCATCACCCGTAAGCCCT p.Lys396fs frameshift ACLY 3 82900 3.61882E-5 41450 1 NA
17-40055041-G-T c.1184-3C>A splice_region ACLY 1 82834 1.20723E-5 41417 0 NA
17-40055045-G-A c.1184-7C>T splice_region ACLY 1 82784 1.20796E-5 41392 0 9.62575E-6
17-40057947-A-C c.1183+2T>G splice_donor ACLY 1 83140 1.20279E-5 41570 0 NA
17-40057967-G-A p.Arg389Trp missense ACLY 2 83294 2.40113E-5 41647 0 1.56756E-4
17-40057999-C-G p.Arg378Pro missense ACLY 1 83358 1.19964E-5 41679 0 3.18431E-5
17-40058001-G-A p.Val377Val synonymous ACLY 1 83360 1.19962E-5 41680 0 NA
17-40058008-A-G p.Ile375Thr missense ACLY 1 83366 1.19953E-5 41683 0 NA
17-40058009-T-C p.Ile375Val missense ACLY 5 83370 5.99736E-5 41685 0 1.41959E-4
17-40058010-T-G p.Thr374Thr synonymous ACLY 2 83364 2.39912E-5 41682 0 4.07004E-6
17-40058018-C-T p.Glu372Lys missense ACLY 1 83354 1.1997E-5 41677 0 6.25E-4
17-40058034-G-A p.Gly366Gly synonymous ACLY 2 83342 2.39975E-5 41671 0 7.59943E-5
17-40058044-T-C p.Asp363Gly missense ACLY 2 83348 2.39958E-5 41674 0 NA
17-40058047-C-T p.Arg362Gln missense ACLY 4 83336 4.79985E-5 41668 0 4.26316E-5
17-40058048-G-A p.Arg362* stop_gained ACLY 1 83338 1.19993E-5 41669 0 NA
17-40058051-T-C p.Ile361Val missense ACLY 2 83344 2.39969E-5 41672 0 1.71066E-5
17-40058061-G-A p.Ile357Ile synonymous ACLY 1 83324 1.20013E-5 41662 0 5.18188E-5
17-40060976-T-C c.1065+6A>G splice_region ACLY 1 82686 1.20939E-5 41343 0 3.18451E-5
17-40060988-C-T p.Thr353Thr synonymous ACLY 2 82856 2.41383E-5 41428 0 NA
17-40061000-G-A p.Asn349Asn synonymous ACLY 14 82948 1.6878E-4 41474 0 9.55414E-5
17-40061015-G-A p.Ile344Ile synonymous ACLY 2 82934 2.41156E-5 41467 0 5.03525E-4
17-40061028-A-G p.Ile340Thr missense ACLY 1 82938 1.20572E-5 41469 0 NA
17-40061033-G-A p.Leu338Leu synonymous ACLY 1 82908 1.20616E-5 41454 0 NA
17-40061035-G-A p.Leu338Phe missense ACLY 1 82886 1.20648E-5 41443 0 NA
17-40061049-T-A c.1004-6A>T splice_region ACLY 3 82742 3.62573E-5 41371 0 NA
17-40061778-C-T p.Asp334Asn missense ACLY 2 83212 2.4035E-5 41606 0 NA
17-40061792-C-T p.Arg329Gln missense ACLY 1 83286 1.20068E-5 41643 0 3.97763E-6
17-40061793-G-T p.Arg329Arg synonymous ACLY 3 83286 3.60205E-5 41643 0 9.55779E-5
17-40061794-G-A p.Thr328Thr synonymous ACLY 1 83306 1.20039E-5 41653 0 2.47101E-5
17-40061803-G-A p.Ser325Ser synonymous ACLY 2 83318 2.40044E-5 41659 0 1.27413E-4
17-40061808-G-C p.Leu324Val missense ACLY 1 83312 1.20031E-5 41656 0 3.18532E-5
17-40061836-C-T p.Gln314Gln synonymous ACLY 840 83294 0.0100848 41647 10 0.00806792
17-40061841-C-T p.Glu313Lys missense ACLY 1 83300 1.20048E-5 41650 0 3.97633E-6
17-40061842-G-A p.Ser312Ser synonymous ACLY 13 83296 1.5607E-4 41648 0 0.00125
17-40061851-G-A p.Gly309Gly synonymous ACLY 2 83250 2.4024E-5 41625 0 3.18715E-5
17-40061881-G-A c.-82C>T 5_prime_UTR_premature_start_codon_gain ACLY 1 83162 1.20247E-5 41581 0 3.29468E-5
17-40061905-G-A p.Thr291Thr synonymous ACLY 2 83034 2.40865E-5 41517 0 9.14877E-5
17-40061910-C-T p.Asp290Asn missense+splice_region ACLY 1 82924 1.20592E-5 41462 0 7.95659E-6
17-40062774-C-T c.866+7G>A splice_region ACLY 498 82718 0.00602046 41359 1 0.00573156
17-40062775-G-A c.866+6C>T splice_region ACLY 18 82788 2.17423E-4 41394 0 6.25E-4
17-40062782-T-G p.Ser289Arg missense+splice_region ACLY 1 82982 1.20508E-5 41491 0 3.9821E-6
17-40062789-G-A p.Val286Val synonymous ACLY 64 83044 7.70676E-4 41522 0 0.0024855
17-40062797-C-A p.Ala284Ser missense ACLY 1 83122 1.20305E-5 41561 0 8.23968E-6
17-40062798-G-A p.Gly283Gly synonymous ACLY 1 83140 1.20279E-5 41570 0 1.64783E-5
17-40062798-G-C p.Gly283Gly synonymous ACLY 1 83140 1.20279E-5 41570 0 3.29565E-5
17-40062807-G-A p.Ala280Ala synonymous ACLY 2 83248 2.40246E-5 41624 0 8.23764E-6
17-40062815-T-C p.Met278Val missense ACLY 3 83320 3.60058E-5 41660 0 0.0025
17-40062825-C-T p.Arg274Arg synonymous ACLY 3 83332 3.60006E-5 41666 0 8.23683E-6
17-40062837-G-T p.Asn270Lys missense ACLY 1 83340 1.1999E-5 41670 0 NA
17-40062864-C-T p.Gly261Gly synonymous ACLY 1 83330 1.20005E-5 41665 0 3.97649E-6
17-40062873-G-A p.Ala258Ala synonymous ACLY 1 83332 1.20002E-5 41666 0 7.95298E-6
17-40062891-G-A p.Tyr252Tyr synonymous ACLY 1 83324 1.20013E-5 41662 0 NA
17-40062894-G-A p.Ala251Ala synonymous ACLY 1 83314 1.20028E-5 41657 0 8.23737E-6
17-40062899-C-G p.Glu250Gln missense+splice_region ACLY 1 83298 1.20051E-5 41649 0 NA
17-40062903-G-A c.748-4C>T splice_region ACLY 8 83260 9.60846E-5 41630 0 1.98867E-4
17-40063697-C-G p.Glu249Gln missense+splice_region ACLY 1 83196 1.20198E-5 41598 0 8.30579E-6
17-40063709-C-T p.Glu245Lys missense ACLY 2 83214 2.40344E-5 41607 0 NA
17-40063710-C-G p.Arg244Arg synonymous ACLY 7 83222 8.41124E-5 41611 0 4.78805E-4
17-40063716-G-A p.Phe242Phe synonymous ACLY 1 83232 1.20146E-5 41616 0 3.30726E-5
17-40063718-A-C p.Phe242Val missense ACLY 1 83274 1.20085E-5 41637 0 NA
17-40063720-G-A p.Pro241Leu missense ACLY 3 83298 3.60153E-5 41649 0 4.13032E-5
17-40063720-G-T p.Pro241His missense ACLY 3 83298 3.60153E-5 41649 0 5.5693E-5
17-40063720-G-C p.Pro241Arg missense ACLY 1 83298 1.20051E-5 41649 0 6.25E-4
17-40063721-G-C p.Pro241Ala missense ACLY 1 83300 1.20048E-5 41650 0 3.97757E-6
17-40063722-G-C p.Pro240Pro synonymous ACLY 4 83296 4.80215E-5 41648 0 6.3861E-5
17-40063724-G-A p.Pro240Ser missense ACLY 1 83302 1.20045E-5 41651 0 NA
17-40063733-C-T p.Glu237Lys missense ACLY 2 83338 2.39987E-5 41669 0 1.65066E-5
17-40063734-G-A p.Ile236Ile synonymous ACLY 4 83342 4.7995E-5 41671 0 6.39754E-5
17-40063747-T-C p.Lys232Arg missense ACLY 8 83356 9.59739E-5 41678 0 2.47529E-5
17-40063749-C-T p.Val231Val synonymous ACLY 1 83354 1.1997E-5 41677 0 NA
17-40063767-G-A p.Ala225Ala synonymous ACLY 1 83352 1.19973E-5 41676 0 3.57938E-5
17-40063773-G-A p.Ala223Ala synonymous ACLY 1 83332 1.20002E-5 41666 0 NA
17-40063776-G-A p.Asp222Asp synonymous ACLY 2 83334 2.39998E-5 41667 0 1.19307E-5
17-40063788-C-T p.Ala218Ala synonymous ACLY 1 83350 1.19976E-5 41675 0 6.25E-4
17-40063805-A-G p.Tyr213His missense ACLY 14 83324 1.68019E-4 41662 0 3.57958E-5
17-40063808-C-A p.Val212Phe missense ACLY 1 83322 1.20016E-5 41661 0 NA
17-40063809-T-C p.Gly211Gly synonymous ACLY 3 83318 3.60066E-5 41659 0 NA
17-40063810-C-T p.Gly211Glu missense ACLY 1 83318 1.20022E-5 41659 0 NA
17-40063818-G-A p.Thr208Thr synonymous ACLY 2 83278 2.40159E-5 41639 0 2.78547E-5
17-40063823-C-T p.Val207Met missense+splice_region ACLY 1 83266 1.20097E-5 41633 0 3.18878E-5
17-40065236-A-T c.616+6T>A splice_region ACLY 7 83162 8.41731E-5 41581 0 3.18492E-5
17-40065257-C-T p.Glu201Lys missense ACLY 1 83230 1.20149E-5 41615 0 8.61653E-6
17-40065258-G-T p.Leu200Leu synonymous ACLY 3 83238 3.60412E-5 41619 0 3.18776E-5
17-40065258-G-A p.Leu200Leu synonymous ACLY 1 83238 1.20137E-5 41619 0 6.25E-4
17-40065264-G-C p.Thr198Thr synonymous ACLY 2 83238 2.40275E-5 41619 0 6.3743E-5
17-40065281-C-T p.Glu193Lys missense ACLY 3 83246 3.60378E-5 41623 0 5.04032E-4
17-40065282-G-A p.Tyr192Tyr synonymous ACLY 2 83246 2.40252E-5 41623 0 6.25E-4
17-40065284-A-G p.Tyr192His missense ACLY 2 83248 2.40246E-5 41624 0 NA
17-40065289-T-C p.Asn190Ser missense ACLY 7 83240 8.40942E-5 41620 0 3.98721E-5
17-40065300-G-A p.Ser186Ser synonymous ACLY 12 83204 1.44224E-4 41602 0 3.58461E-5
17-40065774-T-G p.Glu175Asp missense ACLY 7516 83210 0.0903257 41605 385 0.11368
17-40065782-C-T p.Ala173Thr missense ACLY 1 83340 1.1999E-5 41670 0 3.30071E-5
17-40065794-G-A p.Leu169Leu synonymous ACLY 2 83374 2.39883E-5 41687 0 NA
17-40065798-T-C p.Lys167Lys synonymous ACLY 2 83372 2.39889E-5 41686 0 NA
17-40065802-T-C p.Lys166Arg missense ACLY 2 83380 2.39866E-5 41690 0 3.18573E-5
17-40065819-C-T p.Leu160Leu synonymous ACLY 1 83386 1.19924E-5 41693 0 3.97652E-6
17-40065821-G-C p.Leu160Val missense ACLY 2 83384 2.39854E-5 41692 0 NA
17-40065827-C-T p.Glu158Lys missense ACLY 2 83380 2.39866E-5 41690 0 NA
17-40065833-C-G p.Val156Leu missense ACLY 1 83364 1.19956E-5 41682 0 NA
17-40065833-C-T p.Val156Met missense ACLY 6 83364 7.19735E-5 41682 0 NA
17-40065836-C-T p.Gly155Ser missense ACLY 3 83366 3.59859E-5 41683 0 NA
17-40065849-C-T p.Gln150Gln synonymous ACLY 2 83360 2.39923E-5 41680 0 1.64764E-5
17-40065855-C-A p.Lys148Asn missense ACLY 1 83352 1.19973E-5 41676 0 NA
17-40065860-C-G p.Ala147Pro missense ACLY 1 83346 1.19982E-5 41673 0 NA
17-40065860-C-T p.Ala147Thr missense ACLY 2 83346 2.39964E-5 41673 0 6.36983E-5
17-40065861-G-A p.Asp146Asp synonymous ACLY 4 83342 4.7995E-5 41671 0 9.55657E-5
17-40065868-T-A p.Asp144Val missense ACLY 1 83338 1.19993E-5 41669 0 NA
17-40065876-G-A p.Asp141Asp synonymous ACLY 1 83334 1.19999E-5 41667 0 8.24063E-6
17-40065882-A-G p.Gly139Gly synonymous ACLY 3 83326 3.60032E-5 41663 0 NA
17-40065885-C-T p.Gly138Gly synonymous ACLY 7 83328 8.40054E-5 41664 0 1.6487E-5
17-40065888-C-T p.Glu137Glu synonymous ACLY 1 83330 1.20005E-5 41665 0 3.97684E-6
17-40065890-C-T p.Glu137Lys missense ACLY 5 83324 6.00067E-5 41662 0 3.18573E-5
17-40065891-G-A p.His136His synonymous ACLY 9 83316 1.08022E-4 41658 0 0.00302115
17-40065900-C-G p.Leu133Leu synonymous ACLY 1 83316 1.20025E-5 41658 0 3.97719E-6
17-40065901-A-T p.Leu133Gln missense ACLY 1 83312 1.20031E-5 41656 0 3.97728E-6
17-40065905-C-T p.Val132Ile missense ACLY 1 83280 1.20077E-5 41640 0 8.24892E-6
17-40065906-G-A p.Tyr131Tyr synonymous ACLY 2 83286 2.40136E-5 41643 0 1.65E-5
17-40065913-C-G p.Gly129Ala missense ACLY 3 83276 3.60248E-5 41638 0 NA
17-40065914-C-T p.Gly129Arg missense ACLY 2 83274 2.40171E-5 41637 0 NA
17-40065919-C-T p.Arg127Gln missense ACLY 1 83254 1.20114E-5 41627 0 3.18613E-5
17-40065920-G-A p.Arg127* stop_gained ACLY 2 83240 2.40269E-5 41620 0 3.97924E-6
17-40065928-T-C p.Tyr124Cys missense ACLY 6 83222 7.20963E-5 41611 0 6.25E-4
17-40065940-T-C p.Tyr120Cys missense ACLY 2 83132 2.40581E-5 41566 0 NA
17-40066468-C-T c.345+7G>A splice_region ACLY 1 82932 1.20581E-5 41466 0 NA
17-40066485-G-A p.Pro112Leu missense ACLY 2 83064 2.40778E-5 41532 0 9.02951E-6
17-40066487-G-T p.Val111Val synonymous ACLY 1 83064 1.20389E-5 41532 0 NA
17-40066490-G-A p.Phe110Phe synonymous ACLY 4 83078 4.81475E-5 41539 0 3.18593E-5
17-40066490-G-T p.Phe110Leu missense ACLY 3 83078 3.61106E-5 41539 0 7.98645E-6
17-40066498-C-T p.Glu108Lys missense ACLY 1 83074 1.20375E-5 41537 0 7.98308E-6
17-40066499-G-A p.Ile107Ile synonymous ACLY 1 83074 1.20375E-5 41537 0 1.77639E-5
17-40066500-A-T p.Ile107Asn missense ACLY 1 83084 1.2036E-5 41542 0 NA
17-40066511-C-A p.Lys103Asn missense ACLY 1 83086 1.20357E-5 41543 0 6.20248E-5
17-40066512-T-C p.Lys103Arg missense ACLY 1 83082 1.20363E-5 41541 0 3.98889E-6
17-40066521-C-G p.Gly100Ala missense ACLY 1 83054 1.20404E-5 41527 0 3.99109E-6
17-40066529-C-T p.Lys97Lys synonymous ACLY 1 83052 1.20406E-5 41526 0 NA
17-40068666-C-T c.282+7G>A splice_region ACLY 2 83068 2.40767E-5 41534 0 NA
17-40068667-A-G c.282+6T>C splice_region ACLY 1 83076 1.20372E-5 41538 0 6.38366E-5
17-40068671-A-G c.282+2T>C splice_donor ACLY 1 83114 1.20317E-5 41557 0 NA
17-40068677-G-T p.Ala93Asp missense ACLY 1 83166 1.20241E-5 41583 0 2.54874E-4
17-40068690-G-A p.Leu89Leu synonymous ACLY 3 83238 3.60412E-5 41619 0 3.18532E-5
17-40068692-C-A p.Arg88Leu missense ACLY 1 83246 1.20126E-5 41623 0 NA
17-40068714-C-A p.Val81Phe missense ACLY 2 83324 2.40027E-5 41662 0 NA
17-40068724-A-G p.Thr77Thr synonymous ACLY 1 83342 1.19988E-5 41671 0 NA
17-40068730-G-A p.Asn75Asn synonymous ACLY 2 83348 2.39958E-5 41674 0 6.36821E-5
17-40068731-T-A p.Asn75Ile missense ACLY 4 83348 4.79916E-5 41674 0 8.23886E-6
17-40068731-T-C p.Asn75Ser missense ACLY 1 83348 1.19979E-5 41674 0 9.55597E-5
17-40068736-C-A p.Gly73Gly synonymous ACLY 3 83360 3.59885E-5 41680 0 7.9533E-6
17-40068742-G-A p.Leu71Leu synonymous ACLY 5 83350 5.9988E-5 41675 0 3.18492E-5
17-40068765-T-G p.Lys64Gln missense ACLY 2 83366 2.39906E-5 41683 0 NA
17-40068773-T-C p.Gln61Arg missense ACLY 1 83360 1.19962E-5 41680 0 2.78388E-5
17-40068778-T-C p.Pro59Pro synonymous ACLY 1 83358 1.19964E-5 41679 0 NA
17-40068781-C-T p.Lys58Lys synonymous ACLY 3 83350 3.59928E-5 41675 0 3.97744E-6
17-40068793-G-C p.Asn54Lys missense+splice_region ACLY 2 83342 2.39975E-5 41671 0 NA
17-40069960-G-C c.159+8C>G splice_region ACLY 1 83230 1.20149E-5 41615 0 1.65942E-5
17-40069976-G-A p.Leu51Phe missense ACLY 1 83098 1.2034E-5 41549 0 3.18451E-5
17-40070002-C-T p.Arg42His missense ACLY 7 83320 8.40134E-5 41660 0 4.0199E-4
17-40070002-C-A p.Arg42Leu missense ACLY 1 83320 1.20019E-5 41660 0 NA
17-40070021-G-A p.Pro36Ser missense ACLY 1 83376 1.19939E-5 41688 0 3.18431E-5
17-40070028-C-T p.Arg33Arg synonymous ACLY 1 83386 1.19924E-5 41693 0 NA
17-40070034-A-G p.Tyr31Tyr synonymous ACLY 4 83404 4.79593E-5 41702 0 1.64737E-5
17-40070053-A-G p.Ile25Thr missense ACLY 1 83404 1.19898E-5 41702 0 3.97633E-6
17-40070061-G-C p.Thr22Thr synonymous ACLY 4 83400 4.79616E-5 41700 0 NA
17-40070091-T-C p.Lys12Lys synonymous ACLY 2 83404 2.39797E-5 41702 0 NA
17-40070098-G-A p.Thr10Met missense ACLY 10 83404 1.19898E-4 41702 0 8.23845E-5
17-40070111-T-C p.Ile6Val missense ACLY 5 83388 5.99607E-5 41694 0 2.47239E-5
17-40070121-C-T p.Ser2Ser synonymous ACLY 1 83370 1.19947E-5 41685 0 3.18471E-5
17-40070150-C-G c.-23-1G>C splice_acceptor ACLY 1 83276 1.20083E-5 41638 0 7.47893E-5
17-40070152-G-A c.-23-3C>T splice_region ACLY 2 83276 2.40165E-5 41638 0 3.1839E-5
17-40070158-G-C c.-27-5C>G splice_region ACLY 1 83244 1.20129E-5 41622 0 NA
17-40075135-C-G c.-26G>C splice_region ACLY 1 78278 1.2775E-5 39139 0 NA
17-40075140-G-C c.-31C>G 5_prime_UTR_premature_start_codon_gain ACLY 1 78306 1.27704E-5 39153 0 8.13935E-5
17-40075173-G-A c.-64C>T 5_prime_UTR_premature_start_codon_gain ACLY 1 78438 1.27489E-5 39219 0 1.47102E-5
17-40075176-G-A c.-67C>T 5_prime_UTR_premature_start_codon_gain ACLY 11 78444 1.40227E-4 39222 0 1.32433E-4
17-40075192-G-A c.-83C>T 5_prime_UTR_premature_start_codon_gain ACLY 1 78480 1.27421E-5 39240 0 8.18599E-5
17-40075198-C-A c.-89G>T 5_prime_UTR_premature_start_codon_gain ACLY 1 78492 1.27402E-5 39246 0 NA
17-40075203-G-A c.-94C>T 5_prime_UTR_premature_start_codon_gain ACLY 1 78490 1.27405E-5 39245 0 NA
17-40075209-G-A c.-100C>T 5_prime_UTR_premature_start_codon_gain ACLY 2 78502 2.54771E-5 39251 0 NA
17-40075227-G-A c.-118C>T 5_prime_UTR_premature_start_codon_gain ACLY 16 78216 2.04562E-4 39108 0 1.03342E-4
17-40075239-G-A c.-130C>T 5_prime_UTR_premature_start_codon_gain ACLY 2 77794 2.57089E-5 38897 0 NA
17-40075248-G-A c.-139C>T 5_prime_UTR_premature_start_codon_gain ACLY 1 77422 1.29162E-5 38711 0 7.54421E-6
17-40086613-C-T c.-30G>A 5_prime_UTR_premature_start_codon_gain ACLY 1 3592 2.78396E-4 1796 0 NA
17-40086753-G-A c.-170C>T 5_prime_UTR_premature_start_codon_gain ACLY 1 50228 1.99092E-5 25114 0 NA
17-40086757-G-A c.-174C>T 5_prime_UTR_premature_start_codon_gain ACLY 1 52060 1.92086E-5 26030 0 NA
17-40086790-G-A c.-207C>T 5_prime_UTR_premature_start_codon_gain ACLY 1 59288 1.68668E-5 29644 0 NA
17-40086794-G-A c.-211C>T 5_prime_UTR_premature_start_codon_gain ACLY 2 60226 3.32082E-5 30113 0 NA