Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-20422798-G-T c.-9G>T 5_prime_UTR_premature_start_codon_gain ACSM5 1 82226 1.21616E-5 41113 0 NA
16-20422823-G-T p.Arg6Ile missense ACSM5 1 82690 1.20934E-5 41345 0 NA
16-20422829-T-A p.Leu8Gln missense ACSM5 2 82746 2.41704E-5 41373 0 NA
16-20422838-A-C p.Gln11Pro missense ACSM5 1 82866 1.20677E-5 41433 0 NA
16-20422846-A-AGGTCTCATG p.Arg14_Asn15insSerHisGly conservative_inframe_insertion ACSM5 1 82924 1.20592E-5 41462 0 NA
16-20422850-AC-A p.Ser16fs frameshift ACSM5 1 82942 1.20566E-5 41471 0 NA
16-20422851-C-A p.Asn15Lys missense ACSM5 87 82956 0.00104875 41478 1 0.00625
16-20422852-T-G p.Ser16Ala missense ACSM5 1 82956 1.20546E-5 41478 0 NA
16-20422854-C-T p.Ser16Ser synonymous ACSM5 2 82982 2.41016E-5 41491 0 6.25E-4
16-20422855-AG-A p.Ala18fs frameshift ACSM5 1 82988 1.20499E-5 41494 0 NA
16-20422869-G-A p.Gly21Gly synonymous ACSM5 18 83058 2.16716E-4 41529 0 9.55231E-5
16-20422874-A-G p.His23Arg missense ACSM5 266 83004 0.00320466 41502 0 0.00321595
16-20422876-G-A p.Gly24Arg missense ACSM5 1 83088 1.20354E-5 41544 0 NA
16-20422879-A-C p.Lys25Gln missense ACSM5 193 82870 0.00232895 41435 0 0.00321656
16-20422888-C-T p.Pro28Ser missense ACSM5 1 83150 1.20265E-5 41575 0 NA
16-20422899-T-C p.Val31Val synonymous ACSM5 2 83184 2.40431E-5 41592 0 8.2481E-6
16-20422909-A-G p.Ile35Val missense ACSM5 1 83212 1.20175E-5 41606 0 3.29761E-5
16-20422912-G-A p.Val36Met missense ACSM5 8 83212 9.614E-5 41606 0 3.5799E-5
16-20422939-G-C p.Gly45Arg missense ACSM5 1 83256 1.20111E-5 41628 0 4.11991E-5
16-20422953-G-C p.Val49Val synonymous ACSM5 1 83260 1.20106E-5 41630 0 0.0025
16-20422953-G-A p.Val49Val synonymous ACSM5 1 83260 1.20106E-5 41630 0 NA
16-20422957-G-GAGTA p.Tyr52fs frameshift ACSM5 11 83264 1.3211E-4 41632 0 9.14574E-4
16-20422967-A-G p.Asn54Ser missense ACSM5 1 83254 1.20114E-5 41627 0 5.03525E-4
16-20422967-A-C p.Asn54Thr missense ACSM5 1 83254 1.20114E-5 41627 0 3.97848E-6
16-20422968-C-T p.Asn54Asn synonymous ACSM5 1 83256 1.20111E-5 41628 0 8.23927E-6
16-20422971-C-T p.Phe55Phe synonymous ACSM5 8 83218 9.61331E-5 41609 0 0.005
16-20422972-G-A p.Ala56Thr missense ACSM5 2 83224 2.40315E-5 41612 0 4.77547E-5
16-20422977-T-C p.His57His synonymous ACSM5 3 83214 3.60516E-5 41607 0 3.97947E-6
16-20422980-T-C p.Asp58Asp synonymous ACSM5 2 83196 2.40396E-5 41598 0 NA
16-20422982-T-A p.Val59Glu missense ACSM5 1 83182 1.20218E-5 41591 0 NA
16-20422993-T-A p.Trp63Arg missense ACSM5 1 83102 1.20334E-5 41551 0 1.64902E-5
16-20422999-C-T p.Arg65Trp missense ACSM5 1 83036 1.2043E-5 41518 0 8.24769E-6
16-20423000-G-A p.Arg65Gln missense ACSM5 3742 82934 0.0451202 41467 188 0.0674723
16-20429377-C-T c.205-4C>T splice_region ACSM5 1 82212 1.21637E-5 41106 0 3.18735E-5
16-20429390-C-T p.Arg72Cys missense ACSM5 1 82420 1.2133E-5 41210 0 3.18918E-5
16-20429391-G-A p.Arg72His missense ACSM5 124 82378 0.00150526 41189 0 0.00396141
16-20429391-G-GC p.Asn75fs frameshift ACSM5 2 82380 2.42777E-5 41190 0 NA
16-20429393-C-T p.Pro73Ser missense ACSM5 3 82488 3.63689E-5 41244 0 NA
16-20429397-C-G p.Pro74Arg missense ACSM5 1 82524 1.21177E-5 41262 0 5.82702E-5
16-20429405-G-A p.Ala77Thr missense ACSM5 2 82600 2.42131E-5 41300 0 8.30661E-6
16-20429413-G-A p.Trp79* stop_gained ACSM5 1 82588 1.21083E-5 41294 0 3.98032E-6
16-20429418-T-A p.Val81Asp missense ACSM5 1 82594 1.21074E-5 41297 0 8.28322E-6
16-20429419-C-T p.Val81Val synonymous ACSM5 1 82620 1.21036E-5 41310 0 NA
16-20429421-A-G p.Asn82Ser missense ACSM5 1 82644 1.21001E-5 41322 0 8.27746E-6
16-20429434-A-G p.Ala86Ala synonymous ACSM5 12 82646 1.45198E-4 41323 0 5.17203E-5
16-20429442-A-G p.Lys89Arg missense ACSM5 1 82678 1.20951E-5 41339 0 1.19353E-5
16-20429455-G-A p.Glu93Glu synonymous ACSM5 16 82680 1.93517E-4 41340 0 5.09619E-4
16-20429476-G-C p.Arg100Ser missense ACSM5 1 82408 1.21347E-5 41204 0 NA
16-20429486-A-C p.Asn104His missense ACSM5 7 82342 8.50113E-5 41171 0 0.00152905
16-20429488-TGTGCTGGGGG-T p.Leu106fs frameshift ACSM5 1 82350 1.21433E-5 41175 0 NA
16-20429491-G-A p.Val105Val synonymous ACSM5 2 82302 2.43007E-5 41151 0 8.24906E-6
16-20429493-TG-T p.Gly108fs frameshift ACSM5 1 82250 1.21581E-5 41125 0 4.12473E-5
16-20429495-G-C p.Gly107Arg missense ACSM5 1 82246 1.21586E-5 41123 0 NA
16-20429497-G-C p.Gly107Gly synonymous ACSM5 1 82228 1.21613E-5 41114 0 3.18573E-5
16-20429506-C-T p.Cys110Cys synonymous ACSM5 2 82050 2.43754E-5 41025 0 5.09684E-4
16-20429506-C-A p.Cys110* stop_gained ACSM5 1 82050 1.21877E-5 41025 0 3.18735E-5
16-20429516-C-T p.Pro114Ser missense ACSM5 5 81854 6.10844E-5 40927 0 4.95851E-5
16-20429544-C-T p.Pro123Leu missense ACSM5 2 81218 2.46251E-5 40609 0 1.66594E-5
16-20429546-C-T p.Arg124Trp missense ACSM5 999 81050 0.0123257 40525 6 0.0087269
16-20429546-C-G p.Arg124Gly missense ACSM5 2 81080 2.4667E-5 40540 0 6.37146E-5
16-20429547-G-A p.Arg124Gln missense ACSM5 1 81028 1.23414E-5 40514 0 8.35394E-6
16-20429553-C-T p.Pro126Leu missense ACSM5 92 80832 0.00113816 40416 1 0.00382653
16-20429553-C-CT p.Glu127fs frameshift ACSM5 1 80832 1.23713E-5 40416 0 NA
16-20429554-G-A p.Pro126Pro synonymous ACSM5 8 80798 9.90124E-5 40399 0 1.3454E-4
16-20429562-G-A p.Trp129* stop_gained ACSM5 2 80492 2.48472E-5 40246 0 2.40085E-5
16-20429565-T-C p.Leu130Pro missense ACSM5 2 80396 2.48769E-5 40198 0 4.00525E-6
16-20429570-A-C p.Ser132Arg missense ACSM5 1 80194 1.24698E-5 40097 0 NA
16-20429580-G-A p.Cys135Tyr missense ACSM5 18 79650 2.25989E-4 39825 0 5.09684E-4
16-20429581-C-CATGCGG p.Met136_Arg137dup disruptive_inframe_insertion ACSM5 9 79554 1.13131E-4 39777 0 0.00110159
16-20429585-C-T p.Arg137Trp missense ACSM5 8 79310 1.0087E-4 39655 0 0.00315126
16-20429586-G-C p.Arg137Pro missense ACSM5 38 79332 4.79E-4 39666 1 0.00137039
16-20429586-G-A p.Arg137Gln missense ACSM5 7 79334 8.82346E-5 39667 0 1.04802E-4
16-20429587-G-A p.Arg137Arg synonymous ACSM5 2 79322 2.52137E-5 39661 0 1.04746E-4
16-20429591-G-A p.Gly139Arg missense+splice_region ACSM5 1 79238 1.26202E-5 39619 0 NA
16-20430544-T-A c.416-6T>A splice_region ACSM5 3 83034 3.61298E-5 41517 0 8.26624E-6
16-20430546-C-T c.416-4C>T splice_region ACSM5 3 83036 3.61289E-5 41518 0 6.36943E-5
16-20430565-C-A p.Pro144Gln missense ACSM5 1 83120 1.20308E-5 41560 0 NA
16-20430566-G-A p.Pro144Pro synonymous ACSM5 3 83120 3.60924E-5 41560 0 4.77642E-5
16-20430571-T-C p.Val146Ala missense ACSM5 1 83148 1.20267E-5 41574 0 NA
16-20430572-G-C p.Val146Val synonymous ACSM5 2 83158 2.40506E-5 41579 0 3.18573E-5
16-20430575-T-C p.Thr147Thr synonymous ACSM5 1 83166 1.20241E-5 41583 0 NA
16-20430583-CAG-C p.Lys152fs frameshift ACSM5 1 83178 1.20224E-5 41589 0 8.24008E-6
16-20430584-A-G p.Thr150Thr synonymous ACSM5 1 83164 1.20244E-5 41582 0 8.24008E-6
16-20430585-G-C p.Glu151Gln missense ACSM5 1 83166 1.20241E-5 41583 0 8.24022E-6
16-20430590-G-A p.Lys152Lys synonymous ACSM5 1 83170 1.20236E-5 41585 0 3.18634E-5
16-20430596-C-G p.Leu154Leu synonymous ACSM5 1 83170 1.20236E-5 41585 0 NA
16-20430597-A-C p.Lys155Gln missense ACSM5 5 83170 6.01178E-5 41585 0 4.37665E-5
16-20430597-A-G p.Lys155Glu missense ACSM5 9 83170 1.08212E-4 41585 0 3.18593E-5
16-20430600-T-C p.Tyr156His missense ACSM5 1 83146 1.2027E-5 41573 0 3.18776E-5
16-20430603-C-T p.Arg157Trp missense ACSM5 30 83136 3.60854E-4 41568 2 0.00704935
16-20430604-G-A p.Arg157Gln missense ACSM5 1 83134 1.20288E-5 41567 0 8.23873E-6
16-20430613-C-A p.Ala160Glu missense ACSM5 2 83128 2.40593E-5 41564 0 3.18715E-5
16-20430614-G-A p.Ala160Ala synonymous ACSM5 3 83126 3.60898E-5 41563 0 2.47162E-5
16-20430616-C-T p.Ser161Phe missense ACSM5 6 83114 7.219E-5 41557 0 1.48295E-4
16-20430632-T-C p.Ile166Ile synonymous ACSM5 1 83092 1.20349E-5 41546 0 4.11963E-5
16-20430635-C-A p.Ile167Ile synonymous ACSM5 2 83066 2.40772E-5 41533 0 8.23981E-6
16-20430643-A-T p.Asp170Val missense ACSM5 1 83054 1.20404E-5 41527 0 NA
16-20430659-G-A p.Arg175Arg synonymous ACSM5 1 82988 1.20499E-5 41494 0 3.18492E-5
16-20430660-G-T p.Val176Leu missense ACSM5 2 82996 2.40975E-5 41498 0 NA
16-20430663-G-A p.Asp177Asn missense ACSM5 41 82970 4.94155E-4 41485 0 9.23802E-4
16-20430665-T-C p.Asp177Asp synonymous ACSM5 4 82972 4.8209E-5 41486 0 3.18492E-5
16-20430674-T-C p.Ser180Ser synonymous ACSM5 2916 82664 0.0352753 41332 70 0.07375
16-20430676-C-T p.Ala181Val missense ACSM5 3 82908 3.61847E-5 41454 0 3.18512E-5
16-20430677-C-T p.Ala181Ala synonymous ACSM5 7 82892 8.44472E-5 41446 0 1.87115E-4
16-20430678-G-A p.Glu182Lys missense ACSM5 4474 82834 0.0540116 41417 322 0.0803748
16-20430680-A-T p.Glu182Asp missense ACSM5 1 82902 1.20624E-5 41451 0 NA
16-20430683-C-T p.Cys183Cys synonymous ACSM5 1 82890 1.20642E-5 41445 0 1.19447E-5
16-20430686-CT-C p.Ser185fs frameshift ACSM5 1 82878 1.20659E-5 41439 0 NA
16-20430692-C-T p.Leu186Leu synonymous ACSM5 1 82884 1.20651E-5 41442 0 2.47562E-5
16-20430703-T-C p.Leu190Pro missense ACSM5 2 82838 2.41435E-5 41419 0 1.1149E-4
16-20430705-C-T p.Leu191Leu synonymous ACSM5 6 82820 7.24463E-5 41410 0 3.18329E-5
16-20430710-G-C p.Val192Val synonymous ACSM5 1 82818 1.20747E-5 41409 0 NA
16-20430717-A-T p.Ser195Cys missense ACSM5 2 82802 2.4154E-5 41401 0 0.00100705
16-20430723-C-T p.Arg197Trp missense ACSM5 3 82798 3.62328E-5 41399 0 3.98279E-5
16-20430725-GC-G p.Pro198fs frameshift ACSM5 1 82768 1.2082E-5 41384 0 NA
16-20430740-C-T p.Asn202Asn synonymous ACSM5 1 82734 1.20869E-5 41367 0 1.19531E-5
16-20430757-G-A p.Arg208Gln missense+splice_region ACSM5 6 82526 7.27044E-5 41263 0 1.25447E-4
16-20430763-T-C c.623+6T>C splice_region ACSM5 1 82408 1.21347E-5 41204 0 2.51446E-5
16-20432577-C-A c.624-3C>A splice_region ACSM5 1 82480 1.21242E-5 41240 0 NA
16-20432581-G-A p.Glu209Lys missense+splice_region ACSM5 1 82496 1.21218E-5 41248 0 NA
16-20432586-T-A p.Ala210Ala synonymous ACSM5 1 82886 1.20648E-5 41443 0 8.37016E-6
16-20432605-A-G p.Met217Val missense ACSM5 7497 82822 0.0905194 41411 589 0.145519
16-20432612-CAA-C p.Lys220fs frameshift ACSM5 1 83108 1.20325E-5 41554 0 3.18654E-5
16-20432617-A-T p.Ser221Cys missense ACSM5 1 83114 1.20317E-5 41557 0 5.03525E-4
16-20432621-G-A p.Arg222Gln missense ACSM5 5 83078 6.01844E-5 41539 0 5.03525E-4
16-20432627-C-T p.Pro224Leu missense ACSM5 3 83104 3.60993E-5 41552 0 3.18796E-5
16-20432628-G-T p.Pro224Pro synonymous ACSM5 1 83094 1.20346E-5 41547 0 8.26405E-6
16-20432634-C-T p.Ala226Ala synonymous ACSM5 3 83118 3.60933E-5 41559 0 5.03525E-4
16-20432636-T-C p.Ile227Thr missense ACSM5 1 83114 1.20317E-5 41557 0 NA
16-20432643-T-C p.Phe229Phe synonymous ACSM5 1 83122 1.20305E-5 41561 0 1.07445E-4
16-20432651-G-GAACCACC p.Gly235fs frameshift ACSM5 1 83108 1.20325E-5 41554 0 4.03122E-6
16-20432658-C-A p.Thr234Thr synonymous ACSM5 7 83090 8.4246E-5 41545 0 2.48217E-5
16-20432658-C-T p.Thr234Thr synonymous ACSM5 3 83088 3.61063E-5 41544 0 4.96434E-5
16-20432659-G-A p.Gly235Arg missense ACSM5 7 83074 8.42622E-5 41537 0 0.00151057
16-20432660-G-A p.Gly235Glu missense ACSM5 2 83082 2.40726E-5 41541 0 NA
16-20432662-GC-G p.Lys238fs frameshift ACSM5 5 83076 6.01859E-5 41538 0 NA
16-20432662-G-A p.Ala236Thr missense ACSM5 1 83076 1.20372E-5 41538 0 8.27732E-6
16-20432665-C-G p.Pro237Ala missense ACSM5 82 83068 9.87143E-4 41534 0 0.00414472
16-20432667-CA-C p.Lys238fs frameshift ACSM5 1 83072 1.20378E-5 41536 0 NA
16-20432677-G-C p.Glu241Gln missense ACSM5 3 83020 3.61359E-5 41510 1 NA
16-20432677-G-A p.Glu241Lys missense ACSM5 1 83020 1.20453E-5 41510 0 8.31366E-6
16-20432682-C-T p.His242His synonymous ACSM5 1 82998 1.20485E-5 41499 0 NA
16-20432698-G-A p.Gly248Arg missense ACSM5 4 82740 4.83442E-5 41370 0 3.19163E-5
16-20432701-C-T p.Leu249Leu synonymous ACSM5 1 82690 1.20934E-5 41345 0 NA
16-20432714-C-A p.Ala253Asp missense ACSM5 2 82266 2.43114E-5 41133 0 1.24898E-5
16-20432718-C-T p.Ser254Ser synonymous ACSM5 7 82092 8.52702E-5 41046 0 4.73162E-5
16-20432719-G-A p.Gly255Arg missense ACSM5 1 82096 1.21809E-5 41048 0 5.04032E-4
16-20432723-G-A p.Arg256Lys missense+splice_region ACSM5 2 81952 2.44045E-5 40976 0 NA
16-20432726-A-G c.767+3A>G splice_region ACSM5 2 81836 2.44391E-5 40918 0 1.97793E-5
16-20435239-C-T p.Arg257Trp missense+splice_region ACSM5 1 83384 1.19927E-5 41692 0 3.18654E-5
16-20435240-G-A p.Arg257Gln missense+splice_region ACSM5 7 83382 8.3951E-5 41691 0 2.3913E-5
16-20435256-C-T p.Thr262Thr synonymous ACSM5 2 83392 2.39831E-5 41696 0 1.6488E-5
16-20435257-G-T p.Glu263* stop_gained ACSM5 1 83392 1.19916E-5 41696 0 NA
16-20435261-CT-TG p.Ser264Leu missense ACSM5 59 83394 7.07485E-4 41697 0 NA
16-20435261-C-T p.Ser264Phe missense ACSM5 21 83394 2.51817E-4 41697 0 0.00512567
16-20435261-C-A p.Ser264Tyr missense ACSM5 1 83394 1.19913E-5 41697 0 NA
16-20435262-T-G p.Ser264Ser synonymous ACSM5 8077 83260 0.0970094 41630 751 0.15005
16-20435265-C-A p.Asp265Glu missense ACSM5 1 83394 1.19913E-5 41697 0 NA
16-20435274-G-A p.Trp268* stop_gained ACSM5 1 83390 1.19918E-5 41695 0 NA
16-20435279-C-T p.Thr270Met missense ACSM5 3 83388 3.59764E-5 41694 0 3.97785E-5
16-20435283-T-A p.Thr271Thr synonymous ACSM5 2 83384 2.39854E-5 41692 0 3.18431E-5
16-20435287-ACT-A p.Thr273fs frameshift ACSM5 1 83376 1.19939E-5 41688 0 3.97747E-6
16-20435293-TG-T p.Val276fs frameshift ACSM5 2 83370 2.39894E-5 41685 0 1.19318E-5
16-20435297-T-C p.Val276Ala missense ACSM5 1 83372 1.19944E-5 41686 0 NA
16-20435314-C-T p.Leu282Phe missense ACSM5 3420 83250 0.0410811 41625 158 0.0566146
16-20435314-C-G p.Leu282Val missense ACSM5 36 83364 4.31841E-4 41682 0 0.00391901
16-20435327-G-T p.Trp286Leu missense ACSM5 5 83352 5.99866E-5 41676 0 1.19331E-5
16-20435350-G-C p.Val294Leu missense ACSM5 1 83340 1.1999E-5 41670 0 NA
16-20435352-G-A p.Val294Val synonymous ACSM5 2 83334 2.39998E-5 41667 0 8.23968E-6
16-20435360-T-A p.Leu297Gln missense ACSM5 1 83320 1.20019E-5 41660 0 NA
16-20435362-C-T p.Pro298Ser missense ACSM5 2 83322 2.40033E-5 41661 0 5.03525E-4
16-20435365-C-T p.Arg299* stop_gained ACSM5 1 83326 1.20011E-5 41663 0 3.18573E-5
16-20435365-C-G p.Arg299Gly missense ACSM5 1 83326 1.20011E-5 41663 0 6.37146E-5
16-20435371-G-C p.Asp301His missense ACSM5 6 83306 7.20236E-5 41653 0 3.02389E-4
16-20435380-G-T p.Val304Phe missense ACSM5 1 83280 1.20077E-5 41640 0 3.18512E-5
16-20435381-T-C p.Val304Ala missense ACSM5 1 83282 1.20074E-5 41641 0 1.65136E-5
16-20439103-T-G c.922-7T>G splice_region ACSM5 3 82524 3.63531E-5 41262 0 NA
16-20439104-G-T c.922-6G>T splice_region ACSM5 1 82538 1.21156E-5 41269 0 3.97909E-6
16-20439109-G-C c.922-1G>C splice_acceptor ACSM5 1 82684 1.20942E-5 41342 0 NA
16-20439111-C-A p.Thr308Asn missense+splice_region ACSM5 4 82678 4.83805E-5 41339 0 6.25E-4
16-20439113-C-T p.Leu309Phe missense ACSM5 5 82762 6.04142E-5 41381 0 3.18654E-5
16-20439120-A-C p.Lys311Thr missense ACSM5 9 82898 1.08567E-4 41449 0 1.91095E-4
16-20439123-T-A p.Phe312Tyr missense ACSM5 1 82922 1.20595E-5 41461 0 NA
16-20439126-C-T p.Pro313Leu missense ACSM5 3 82922 3.61786E-5 41461 0 0.0025
16-20439127-G-A p.Pro313Pro synonymous ACSM5 2 82924 2.41185E-5 41462 0 5.17273E-5
16-20439128-A-G p.Ile314Val missense ACSM5 3 82948 3.61672E-5 41474 0 3.58044E-5
16-20439135-C-T p.Thr316Ile missense ACSM5 1 82978 1.20514E-5 41489 0 NA
16-20439148-C-T p.Val320Val synonymous ACSM5 4 83018 4.81823E-5 41509 0 5.76663E-5
16-20439152-A-G p.Thr322Ala missense ACSM5 2 82992 2.40987E-5 41496 0 0.00151822
16-20439161-C-T p.Arg325Trp missense ACSM5 2 82954 2.41097E-5 41477 0 9.55536E-5
16-20439161-C-A p.Arg325Arg synonymous ACSM5 1 82954 1.20549E-5 41477 0 3.18512E-5
16-20439162-G-A p.Arg325Gln missense ACSM5 268 82918 0.00323211 41459 1 0.0065723
16-20439187-C-T p.Thr333Thr splice_region+synonymous ACSM5 2 82770 2.41633E-5 41385 0 NA
16-20439191-T-C c.1001+2T>C splice_donor ACSM5 9 82704 1.08822E-4 41352 0 3.50274E-4
16-20440996-A-G c.1002-4A>G splice_region ACSM5 1 83078 1.20369E-5 41539 0 6.58946E-5
16-20441005-A-C p.Gln336Pro missense ACSM5 26 83132 3.12756E-4 41566 0 0.00101943
16-20441013-A-G p.Ser339Gly missense ACSM5 19 83144 2.28519E-4 41572 0 7.96432E-4
16-20441014-GC-G p.Leu340fs frameshift ACSM5 2 83146 2.40541E-5 41573 0 1.59246E-4
16-20441020-G-A p.Arg341Lys missense ACSM5 5716 81076 0.0705018 40538 296 0.18125
16-20441021-G-A p.Ala102Thr missense ACSM5 1 83146 1.2027E-5 41573 0 NA
16-20441033-C-T p.Arg106Trp missense ACSM5 2 83158 2.40506E-5 41579 0 8.23805E-5
16-20441034-G-A p.Gly346Arg missense ACSM5 5 83156 6.0128E-5 41578 0 1.19337E-5
16-20441051-C-T p.Pro112Ser missense ACSM5 2 83134 2.40575E-5 41567 0 3.98318E-6
16-20441052-C-T p.Pro352Ser missense ACSM5 397 83114 0.00477657 41557 6 0.00991836
16-20441052-C-A p.Pro352Thr missense ACSM5 5 83132 6.01453E-5 41566 0 6.59326E-5
16-20441053-C-G p.Pro352Arg missense ACSM5 25659 80622 0.318263 40311 4831 0.404133
16-20441057-C-T p.Asp353Asp synonymous ACSM5 2 83120 2.40616E-5 41560 0 2.79296E-5
16-20441058-G-A p.Val354Met missense ACSM5 4 83106 4.81313E-5 41553 0 9.9759E-5
16-20441076-C-T p.His360Tyr missense ACSM5 1 83044 1.20418E-5 41522 0 8.35436E-6
16-20441077-A-G p.His360Arg missense ACSM5 4113 78378 0.0524765 39189 232 0.179375
16-20441084-T-C p.Thr362Thr synonymous ACSM5 30205 76888 0.392844 38444 7078 0.487489
16-20441085-G-A p.Gly363Ser missense ACSM5 2 82992 2.40987E-5 41496 0 6.37755E-5
16-20441093-G-A p.Glu365Glu synonymous ACSM5 7 82958 8.438E-5 41479 0 9.56999E-5
16-20441099-C-T p.Tyr367Tyr synonymous ACSM5 2 82912 2.4122E-5 41456 0 6.37755E-5
16-20441100-G-A p.Glu368Lys missense ACSM5 16 82916 1.92966E-4 41458 0 8.08925E-4
16-20441105-C-T p.Gly369Gly synonymous ACSM5 1 82904 1.20621E-5 41452 0 NA
16-20441122-C-T p.Thr375Met missense+splice_region ACSM5 8 82778 9.6644E-5 41389 0 2.23257E-4
16-20441123-G-A p.Thr375Thr splice_region+synonymous ACSM5 7 82744 8.45983E-5 41372 0 0.00250941
16-20442307-C-T c.1126-8C>T splice_region ACSM5 11 83168 1.32262E-4 41584 0 6.37105E-5
16-20442308-TC-T c.1126-6delC splice_region ACSM5 4 83168 4.80954E-5 41584 0 1.91205E-4
16-20442319-T-A p.Val377Asp missense ACSM5 1 83226 1.20155E-5 41613 0 3.18573E-5
16-20442344-GA-G p.Ile387fs frameshift ACSM5 1 83324 1.20013E-5 41662 0 NA
16-20442346-A-C p.Lys386Thr missense ACSM5 500 83300 0.0060024 41650 3 0.005
16-20442373-C-T p.Ala395Val missense ACSM5 5 83320 6.00096E-5 41660 0 8.3131E-5
16-20442374-G-A p.Ala395Ala synonymous ACSM5 1 83320 1.20019E-5 41660 0 3.32397E-5
16-20442378-C-T p.Pro397Ser missense ACSM5 1 83324 1.20013E-5 41662 0 3.18532E-5
16-20442380-A-C n.770A>C splice_region ACSM5 2 83318 2.40044E-5 41659 0 5.03525E-4
16-20442387-G-A p.Asp400Asn missense ACSM5 3 83310 3.60101E-5 41655 0 0.0327291
16-20442391-T-C p.Val401Ala missense ACSM5 1 83298 1.20051E-5 41649 0 7.99648E-6
16-20442403-C-A c.1206+8C>A splice_region ACSM5 8 83236 9.61123E-5 41618 0 2.87908E-4
16-20442539-C-A c.1207-3C>A splice_region ACSM5 1 83252 1.20117E-5 41626 0 NA
16-20442544-T-A p.Ile403Ile splice_region+synonymous ACSM5 1 83268 1.20094E-5 41634 0 NA
16-20442554-G-A p.Glu407Lys missense ACSM5 2 83294 2.40113E-5 41647 0 2.7847E-5
16-20442555-A-G p.Glu407Gly missense ACSM5 2 83288 2.40131E-5 41644 0 NA
16-20442558-G-A p.Gly408Asp missense ACSM5 2 83282 2.40148E-5 41641 0 6.25E-4
16-20442559-C-T p.Gly408Gly synonymous ACSM5 1 83288 1.20065E-5 41644 0 3.18552E-5
16-20442562-C-T p.Asn409Asn synonymous ACSM5 20 83286 2.40136E-4 41643 0 0.17422
16-20442563-G-A p.Val410Ile missense ACSM5 1 83286 1.20068E-5 41643 0 3.18634E-5
16-20442578-G-A p.Glu415Lys missense ACSM5 1 83304 1.20042E-5 41652 0 3.97757E-6
16-20442594-C-T p.Ala420Val missense ACSM5 225 83276 0.00270186 41638 1 0.00403618
16-20442595-C-T p.Ala420Ala synonymous ACSM5 77 83284 9.24547E-4 41642 0 0.00352467
16-20442595-C-G p.Ala420Ala synonymous ACSM5 2 83288 2.40131E-5 41644 0 NA
16-20442596-G-A p.Val421Ile missense ACSM5 2 83284 2.40142E-5 41642 0 5.03525E-4
16-20442599-C-T p.Arg422Cys missense ACSM5 2 83286 2.40136E-5 41643 0 9.88468E-5
16-20442600-G-A p.Arg422His missense ACSM5 12 83286 1.44082E-4 41643 0 1.27397E-4
16-20442602-A-C p.Ile423Leu missense ACSM5 1 83290 1.20062E-5 41645 0 3.57972E-5
16-20442614-C-T p.Arg427Trp missense ACSM5 2 83274 2.40171E-5 41637 0 2.47113E-5
16-20442615-G-A p.Arg427Gln missense ACSM5 2 83262 2.40206E-5 41631 0 3.18492E-5
16-20442615-G-T p.Arg427Leu missense ACSM5 1 83262 1.20103E-5 41631 0 NA
16-20442621-T-C p.Phe429Ser missense ACSM5 3 83252 3.60352E-5 41626 0 NA
16-20442623-T-C p.Cys430Arg missense ACSM5 1 83252 1.20117E-5 41626 0 8.23737E-6
16-20442624-G-C p.Cys430Ser missense ACSM5 1 83248 1.20123E-5 41624 0 NA
16-20442633-A-G p.Asn433Ser missense ACSM5 1 83226 1.20155E-5 41613 0 3.18512E-5
16-20442634-T-C p.Asn433Asn synonymous ACSM5 9 83220 1.08147E-4 41610 0 4.20127E-4
16-20442637-C-T p.Cys434Cys synonymous ACSM5 3 83206 3.60551E-5 41603 0 6.36902E-5
16-20442645-T-C c.1308+2T>C splice_donor ACSM5 2 83168 2.40477E-5 41584 0 5.57001E-5
16-20442648-G-A c.1308+5G>A splice_region ACSM5 1 83156 1.20256E-5 41578 0 8.23995E-6
16-20442650-GAC-G c.1308+8_1308+9delAC splice_region ACSM5 5 83146 6.01352E-5 41573 0 1.1937E-5
16-20442651-A-G c.1308+8A>G splice_region ACSM5 1 83122 1.20305E-5 41561 0 3.97912E-6
16-20448370-T-C c.1309-4T>C splice_region ACSM5 41 83018 4.93869E-4 41509 0 0.00305745
16-20448375-A-G p.Asp437Gly missense+splice_region ACSM5 2 83104 2.40662E-5 41552 0 3.97839E-6
16-20448378-A-G p.Asn438Ser missense ACSM5 2 83136 2.4057E-5 41568 0 3.97807E-6
16-20448381-C-T p.Pro439Leu missense ACSM5 3 83174 3.6069E-5 41587 0 8.23954E-6
16-20448390-C-G p.Thr442Arg missense ACSM5 1 83230 1.20149E-5 41615 0 8.23832E-6
16-20448393-C-T p.Ala443Val missense ACSM5 1 83256 1.20111E-5 41628 0 8.23805E-6
16-20448397-A-AT p.Ser445fs frameshift ACSM5 1 83268 1.20094E-5 41634 0 1.15344E-4
16-20448399-C-T p.Ser445Leu missense ACSM5 1 83284 1.20071E-5 41642 0 1.15342E-4
16-20448401-G-A p.Glu446Lys missense ACSM5 5 83290 6.00312E-5 41645 0 1.40035E-4
16-20448406-A-G p.Gln447Gln synonymous ACSM5 16 83306 1.92063E-4 41653 0 2.22902E-4
16-20448406-A-C p.Gln447His missense ACSM5 2 83306 2.40079E-5 41653 0 NA
16-20448409-G-C p.Gly448Gly synonymous ACSM5 1 83302 1.20045E-5 41651 0 NA
16-20448411-A-G p.Asp449Gly missense ACSM5 59 83258 7.08641E-4 41629 0 0.00379711
16-20448418-C-T p.Tyr451Tyr synonymous ACSM5 10 83308 1.20036E-4 41654 0 6.25E-4
16-20448430-C-G p.Asp455Glu missense ACSM5 137 83210 0.00164644 41605 0 0.00325483
16-20448431-C-T p.Arg456* stop_gained ACSM5 1 83348 1.19979E-5 41674 0 7.41278E-5
16-20448434-G-A p.Ala457Thr missense ACSM5 1 83352 1.19973E-5 41676 0 NA
16-20448437-C-T p.Arg458Cys missense ACSM5 1 83346 1.19982E-5 41673 0 3.18552E-5
16-20448438-G-A p.Arg458His missense ACSM5 6 83350 7.19856E-5 41675 0 7.41278E-5
16-20448438-G-C p.Arg458Pro missense ACSM5 2 83350 2.39952E-5 41675 0 NA
16-20448448-G-C p.Lys461Asn missense ACSM5 1 83360 1.19962E-5 41680 0 NA
16-20448448-G-A p.Lys461Lys synonymous ACSM5 2 83360 2.39923E-5 41680 0 6.37024E-5
16-20448449-G-A p.Asp462Asn missense ACSM5 1 83364 1.19956E-5 41682 0 NA
16-20448450-A-T p.Asp462Val missense ACSM5 1 83370 1.19947E-5 41685 0 3.97681E-6
16-20448451-T-A p.Asp462Glu missense ACSM5 6 83360 7.1977E-5 41680 0 5.03525E-4
16-20448468-T-C p.Met468Thr missense ACSM5 1 83358 1.19964E-5 41679 0 3.18674E-5
16-20448478-C-T p.Asn471Asn synonymous ACSM5 3 83350 3.59928E-5 41675 0 3.18573E-5
16-20448479-G-A p.Asp472Asn missense ACSM5 22 83344 2.63966E-4 41672 0 4.14118E-4
16-20448484-T-C p.Asp473Asp synonymous ACSM5 1 83340 1.1999E-5 41670 0 1.59066E-5
16-20448486-T-A p.Val474Glu missense ACSM5 1 83344 1.19985E-5 41672 0 1.59075E-5
16-20448490-C-G p.Ile475Met missense ACSM5 1 83336 1.19996E-5 41668 0 8.23642E-6
16-20448492-A-G p.Asn476Ser missense ACSM5 3 83336 3.59988E-5 41668 0 6.37024E-5
16-20448493-T-C p.Asn476Asn synonymous ACSM5 2 83338 2.39987E-5 41669 0 3.97674E-6
16-20448499-A-C p.Ser478Ser splice_region+synonymous ACSM5 6 83334 7.19994E-5 41667 0 9.8837E-5
16-20448503-T-G c.1436+2T>G splice_donor ACSM5 3 83328 3.60023E-5 41664 1 3.977E-6
16-20448582-C-T c.1437-8C>T splice_region ACSM5 4 83364 4.79823E-5 41682 0 6.37267E-5
16-20448594-C-T p.Arg481Trp missense ACSM5 1 83364 1.19956E-5 41682 0 3.295E-5
16-20448595-G-A p.Arg481Gln missense ACSM5 47 83328 5.64036E-4 41664 0 7.00052E-4
16-20448599-C-T p.Ile482Ile synonymous ACSM5 50 83356 5.99837E-4 41678 0 0.00101937
16-20448600-G-A p.Gly483Arg missense ACSM5 1 83352 1.19973E-5 41676 0 6.25E-4
16-20448606-G-A p.Val485Ile missense ACSM5 1 83350 1.19976E-5 41675 0 NA
16-20448614-G-A p.Val487Val synonymous ACSM5 2 83320 2.40038E-5 41660 0 5.03525E-4
16-20448633-C-T p.His494Tyr missense ACSM5 2 83258 2.40217E-5 41629 0 NA
16-20448644-C-T p.Val497Val synonymous ACSM5 22 83180 2.64487E-4 41590 0 4.14409E-4
16-20448650-G-A p.Glu499Glu synonymous ACSM5 925 83058 0.0111368 41529 4 0.0135483
16-20448652-C-T p.Ser500Leu missense ACSM5 6 83094 7.22074E-5 41547 0 4.12868E-4
16-20448653-G-A p.Ser500Ser synonymous ACSM5 4 83078 4.81475E-5 41539 0 3.58155E-5
16-20448653-G-C p.Ser500Ser synonymous ACSM5 4 83078 4.81475E-5 41539 0 5.03525E-4
16-20448674-C-A p.Asp507Glu missense ACSM5 1 82762 1.20828E-5 41381 0 NA
16-20448679-T-A p.Ile509Asn missense ACSM5 1 82678 1.20951E-5 41339 0 NA
16-20448680-CA-C p.Arg510fs frameshift ACSM5 1 82660 1.20978E-5 41330 0 NA
16-20448689-G-C p.Glu512Asp missense+splice_region ACSM5 1 82348 1.21436E-5 41174 0 NA
16-20451120-A-AACAAAATACCTGGTTCGACTTCTCCCTCTGTCT c.1537-2_1537-1insACAAAATACCTGGTTCGACTTCTCCCTCTGTCT splice_acceptor ACSM5 1 81130 1.23259E-5 40565 0 1.28427E-4
16-20451120-A-AACAAAATACCTGGTTCGACTTCTCCCTCTGTCTGGGGGCAGGCTCAGCATCTGCCCACT c.1537-2_1537-1insACAAAATACCTGGTTCGACTTCTCCCTCTGTCTGGGGGCAGGCTCAGCATCTGCCCACT splice_acceptor ACSM5 1 81124 1.23268E-5 40562 0 NA
16-20451130-G-A p.Lys515Lys synonymous ACSM5 1 81220 1.23122E-5 40610 0 NA
16-20451143-C-G p.Leu520Val missense ACSM5 6 81378 7.373E-5 40689 0 3.24233E-5
16-20451145-T-C p.Leu520Leu synonymous ACSM5 1 81384 1.22874E-5 40692 0 NA
16-20451168-A-G p.Asp528Gly missense ACSM5 1 81554 1.22618E-5 40777 0 NA
16-20451183-C-T p.Thr533Met missense ACSM5 7 81580 8.58053E-5 40790 0 5.97372E-4
16-20451184-G-A p.Thr533Thr synonymous ACSM5 4 81610 4.90136E-5 40805 0 2.14292E-4
16-20451185-C-T p.Arg534Trp missense ACSM5 1 81600 1.22549E-5 40800 0 1.91963E-4
16-20451185-C-G p.Arg534Gly missense ACSM5 2 81600 2.45098E-5 40800 0 7.96921E-6
16-20451185-CG-C p.Glu535fs frameshift ACSM5 1 81600 1.22549E-5 40800 0 NA
16-20451186-G-A p.Arg534Gln missense ACSM5 1 81606 1.2254E-5 40803 0 1.97808E-4
16-20451202-T-C p.His539His synonymous ACSM5 47 81574 5.76164E-4 40787 0 4.10421E-4
16-20451223-A-G p.Pro546Pro synonymous ACSM5 1 81554 1.22618E-5 40777 0 5.9952E-4
16-20451232-C-T p.Tyr549Tyr synonymous ACSM5 1 81540 1.22639E-5 40770 0 8.24552E-6
16-20451233-C-G p.Pro550Ala missense ACSM5 9 81526 1.10394E-4 40763 0 8.24606E-5
16-20451233-C-A p.Pro550Thr missense ACSM5 2 81528 2.45314E-5 40764 0 NA
16-20451234-C-G p.Pro550Arg missense ACSM5 1 81536 1.22645E-5 40768 0 7.97219E-6
16-20451235-C-A p.Pro550Pro synonymous ACSM5 2 81532 2.45302E-5 40766 0 4.78351E-5
16-20451236-A-C p.Arg551Arg synonymous ACSM5 19 81536 2.33026E-4 40768 0 7.17583E-5
16-20451244-A-G c.1656+3A>G splice_region ACSM5 3 81498 3.68107E-5 40749 0 NA
16-20451247-T-C c.1656+6T>C splice_region ACSM5 5 81286 6.15112E-5 40643 0 0.091875
16-20451668-GGCCTTTGTTTCAGAACT-G p.Phe555fs frameshift ACSM5 2 82986 2.41005E-5 41493 0 9.62773E-5
16-20451694-C-T p.Thr562Met missense ACSM5 1 83184 1.20215E-5 41592 0 0.00125156
16-20451695-G-A p.Thr562Thr synonymous ACSM5 98 83196 0.00117794 41598 0 0.00205141
16-20451705-A-G p.Lys566Glu missense ACSM5 1 83222 1.20161E-5 41611 0 1.19562E-5
16-20451720-A-G p.Lys571Glu missense ACSM5 1 83244 1.20129E-5 41622 0 8.31891E-6
16-20451725-G-A p.Leu572Leu synonymous ACSM5 2 83250 2.4024E-5 41625 0 NA
16-20451726-C-T p.Arg573* stop_gained ACSM5 4 83238 4.8055E-5 41619 0 2.91055E-4
16-20451738-TG-T p.Lys579fs frameshift ACSM5 1 83232 1.20146E-5 41616 0 3.98356E-6
16-20451743-G-A p.Gly578Gly synonymous ACSM5 2 83248 2.40246E-5 41624 0 3.20349E-5