Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-20634561-T-C c.*247A>G splice_region ACSM1 1 35336 2.82998E-5 17668 0 NA
16-20634817-A-G p.Gly226Gly synonymous ACSM1 1 83308 1.20036E-5 41654 0 3.18776E-5
16-20634833-C-T p.Arg221Gln missense ACSM1 9 83320 1.08017E-4 41660 0 1.59622E-4
16-20634845-C-T p.Arg217Gln missense ACSM1 2 83352 2.39946E-5 41676 0 5.56771E-5
16-20634846-G-A p.Arg217Trp missense ACSM1 4 83344 4.79939E-5 41672 0 6.25E-4
16-20634848-T-C p.Glu216Gly missense ACSM1 1 83356 1.19967E-5 41678 0 NA
16-20634851-A-G p.Ile215Thr missense ACSM1 8 83352 9.59785E-5 41676 0 1.27486E-4
16-20634854-T-C p.Lys214Arg missense ACSM1 1 83354 1.1997E-5 41677 0 3.97678E-6
16-20634855-T-C p.Lys214Glu missense ACSM1 1 83358 1.19964E-5 41679 0 1.64745E-5
16-20634855-T-G p.Lys214Gln missense ACSM1 1 83358 1.19964E-5 41679 0 NA
16-20634861-T-G p.Thr212Pro missense ACSM1 1 83350 1.19976E-5 41675 0 NA
16-20634874-C-A p.Leu207Leu synonymous ACSM1 1 83328 1.20008E-5 41664 0 8.23764E-6
16-20634883-G-C p.Val204Val synonymous ACSM1 2 83308 2.40073E-5 41654 0 0.0020141
16-20634891-C-A p.Glu202* stop_gained ACSM1 7 83278 8.40558E-5 41639 0 2.47174E-5
16-20634893-A-G p.Val201Ala missense+splice_region ACSM1 1 83270 1.20091E-5 41635 0 NA
16-20635418-C-T p.Lys200Lys splice_region+synonymous ACSM1 11088 82882 0.133781 41441 873 0.156641
16-20635420-T-C p.Lys200Glu missense+splice_region ACSM1 1 83080 1.20366E-5 41540 0 8.24076E-6
16-20635424-T-C p.Pro198Pro synonymous ACSM1 1 83114 1.20317E-5 41557 0 NA
16-20635433-G-C p.Tyr195* stop_gained ACSM1 1 83154 1.20259E-5 41577 0 NA
16-20635442-T-C p.Thr192Thr synonymous ACSM1 6 83172 7.21397E-5 41586 0 6.36902E-5
16-20635443-G-C p.Thr192Arg missense ACSM1 1 83178 1.20224E-5 41589 0 3.1841E-5
16-20635457-A-AT p.His187fs frameshift ACSM1 15 83236 1.8021E-4 41618 0 2.86624E-4
16-20635463-C-T p.Gln185Gln synonymous ACSM1 2 83234 2.40286E-5 41617 0 7.95653E-6
16-20635466-C-A p.Leu184Leu synonymous ACSM1 1 83246 1.20126E-5 41623 0 NA
16-20635470-T-A p.Glu183Val missense ACSM1 1 83256 1.20111E-5 41628 0 NA
16-20635471-C-T p.Glu183Lys missense ACSM1 1 83246 1.20126E-5 41623 0 6.25E-4
16-20635477-T-A p.Thr181Ser missense ACSM1 3 83270 3.60274E-5 41635 0 4.95376E-5
16-20635481-C-T p.Gln179Gln synonymous ACSM1 27 83266 3.24262E-4 41633 0 0.003125
16-20635484-AT-A p.Asp178fs frameshift ACSM1 1 83286 1.20068E-5 41643 0 NA
16-20635490-G-A p.Asp176Asp synonymous ACSM1 1 83312 1.20031E-5 41656 0 3.9801E-6
16-20635492-C-T p.Asp176Asn missense ACSM1 1 83330 1.20005E-5 41665 0 NA
16-20635507-G-A p.Gln171* stop_gained ACSM1 1 83358 1.19964E-5 41679 0 3.1837E-5
16-20635510-G-A p.Pro170Ser missense ACSM1 2 83364 2.39912E-5 41682 0 3.33617E-5
16-20635513-T-A p.Thr169Ser missense ACSM1 1 83356 1.19967E-5 41678 0 0.00100705
16-20635521-A-G p.Ile166Thr missense ACSM1 285 83348 0.0034194 41674 1 0.0074836
16-20635535-C-T p.Val161Val splice_region+synonymous ACSM1 1 83346 1.19982E-5 41673 0 4.04106E-6
16-20635543-G-T c.481-6C>A splice_region ACSM1 564 83320 0.00676908 41660 8 0.0075
16-20636739-C-T c.480+6G>A splice_region ACSM1 1 82454 1.2128E-5 41227 0 NA
16-20636741-T-A c.480+4A>T splice_region ACSM1 2 82456 2.42554E-5 41228 0 3.18492E-5
16-20636752-C-T p.Arg158Gln missense ACSM1 1 82694 1.20928E-5 41347 0 8.45409E-6
16-20636753-G-A p.Arg158* stop_gained ACSM1 3 82712 3.62704E-5 41356 0 1.19601E-5
16-20636757-C-T p.Pro156Pro synonymous ACSM1 1 82754 1.2084E-5 41377 0 3.18431E-5
16-20636757-C-G p.Pro156Pro synonymous ACSM1 1 82752 1.20843E-5 41376 0 NA
16-20636758-G-T p.Pro156Gln missense ACSM1 1 82762 1.20828E-5 41381 0 3.35762E-5
16-20636758-G-A p.Pro156Leu missense ACSM1 2 82764 2.41651E-5 41382 0 3.18492E-5
16-20636760-G-C p.Asp155Glu missense ACSM1 1 82802 1.2077E-5 41401 0 3.18492E-5
16-20636763-T-C p.Pro154Pro synonymous ACSM1 204 82810 0.00246347 41405 0 0.0058595
16-20636777-C-T p.Val150Met missense ACSM1 1 82884 1.20651E-5 41442 0 5.03525E-4
16-20636778-G-A p.Ala149Ala synonymous ACSM1 9 82882 1.08588E-4 41441 2 3.32901E-5
16-20636788-G-A p.Ala146Val missense ACSM1 6 82940 7.23414E-5 41470 0 6.65292E-5
16-20636794-G-C p.Ala144Gly missense ACSM1 7 82954 8.43841E-5 41477 0 1.27397E-4
16-20636794-G-A p.Ala144Val missense ACSM1 2 82954 2.41097E-5 41477 0 1.27397E-4
16-20636795-CTGGG-C p.His142fs frameshift ACSM1 1 82952 1.20552E-5 41476 0 NA
16-20636813-C-T p.Ala138Thr missense ACSM1 1 82916 1.20604E-5 41458 0 8.32598E-6
16-20636814-G-A p.Ser137Ser synonymous ACSM1 10862 82458 0.131728 41229 880 0.155465
16-20636818-T-A p.Glu136Val missense ACSM1 2 82880 2.41313E-5 41440 0 3.98184E-6
16-20636824-T-C p.Glu134Gly missense ACSM1 1 82830 1.20729E-5 41415 0 0.00100705
16-20636832-C-A p.Gly131Gly synonymous ACSM1 1 82744 1.20855E-5 41372 0 8.60171E-6
16-20636834-C-T p.Gly131Arg missense ACSM1 2 82714 2.41797E-5 41357 0 6.92809E-5
16-20636835-G-A p.Ile130Ile synonymous ACSM1 7 82704 8.46392E-5 41352 0 4.32975E-5
16-20636837-T-C p.Ile130Val missense ACSM1 456 82632 0.00551844 41316 6 0.011622
16-20636839-C-T p.Arg129His missense ACSM1 7 82610 8.47355E-5 41305 0 6.3674E-5
16-20636844-C-T p.Gly127Gly splice_region+synonymous ACSM1 1 82476 1.21247E-5 41238 0 NA
16-20636847-G-A c.381-3C>T splice_region ACSM1 1 82452 1.21283E-5 41226 0 1.2025E-5
16-20638526-A-G p.Ile122Thr missense ACSM1 1 82462 1.21268E-5 41231 0 NA
16-20638528-G-A p.Asp121Asp synonymous ACSM1 1 82510 1.21197E-5 41255 0 NA
16-20638529-T-A p.Asp121Val missense ACSM1 1 82530 1.21168E-5 41265 0 NA
16-20638535-C-T p.Ser119Asn missense ACSM1 13 82692 1.5721E-4 41346 0 3.1201E-4
16-20638538-C-T p.Arg118Lys missense ACSM1 2 82728 2.41756E-5 41364 0 9.04364E-6
16-20638559-C-T p.Gly111Asp missense ACSM1 1 83096 1.20343E-5 41548 0 NA
16-20638569-C-A p.Asp108Tyr missense ACSM1 1 83158 1.20253E-5 41579 0 NA
16-20638576-A-T n.1316+2T>A splice_donor ACSM1 34653 82780 0.418616 41390 8121 0.5225
16-20638592-T-C p.Asn100Ser missense ACSM1 56 83196 6.73109E-4 41598 0 3.78716E-4
16-20638597-G-C p.Phe98Leu missense ACSM1 2 83162 2.40494E-5 41581 0 4.32033E-6
16-20638638-C-T p.Gly85Ser missense+splice_region ACSM1 162 82700 0.00195889 41350 1 0.00428307
16-20648065-T-G p.Tyr83Ser missense ACSM1 1 82142 1.2174E-5 41071 0 NA
16-20648065-T-C p.Tyr83Cys missense ACSM1 1 82142 1.2174E-5 41071 0 8.2526E-6
16-20648076-G-T p.Leu79Leu synonymous ACSM1 264 82320 0.003207 41160 0 0.00375
16-20648087-G-A p.Pro76Ser missense ACSM1 1 82380 1.21389E-5 41190 0 8.24294E-6
16-20648089-C-T p.Arg75Lys missense ACSM1 4 82384 4.85531E-5 41192 0 1.59276E-4
16-20648090-T-G p.Arg75Arg synonymous ACSM1 1 82394 1.21368E-5 41197 0 NA
16-20648096-G-A p.Pro73Ser missense ACSM1 1 82386 1.2138E-5 41193 0 5.03525E-4
16-20648098-T-C p.Lys72Arg missense ACSM1 3 82366 3.64228E-5 41183 0 4.12052E-5
16-20648113-A-G p.Ile67Thr missense ACSM1 1 82400 1.21359E-5 41200 0 2.47202E-5
16-20648115-G-A p.Asn66Asn synonymous ACSM1 1 82394 1.21368E-5 41197 0 1.64799E-5
16-20648121-T-C p.Glu64Glu synonymous ACSM1 1 82366 1.21409E-5 41183 0 1.64813E-5
16-20648127-G-A p.Asn62Asn synonymous ACSM1 2 82330 2.42925E-5 41165 0 3.18674E-5
16-20648132-G-A p.Pro61Ser missense ACSM1 1 82276 1.21542E-5 41138 0 1.64837E-5
16-20648135-G-A p.Pro60Ser missense ACSM1 1 82230 1.2161E-5 41115 0 NA
16-20648141-T-C p.Ile58Val missense ACSM1 3 82174 3.65079E-5 41087 0 6.37146E-5
16-20648159-T-C p.Ile52Val missense ACSM1 1 81962 1.22008E-5 40981 0 8.25627E-6
16-20648162-C-T p.Val400Ile missense+splice_region ACSM1 1 81898 1.22103E-5 40949 0 2.0654E-4
16-20648171-AG-A p.Leu48fs frameshift ACSM1 2 81722 2.44732E-5 40861 0 2.89994E-4
16-20648179-G-A c.137-3C>T splice_region ACSM1 1 81482 1.22726E-5 40741 0 3.98985E-6
16-20648475-CTG-TTT p.HisSer45GlnSer splice_donor ACSM1 1 63422 1.57674E-5 31711 0 NA
16-20648488-C-T p.Gly42Ser missense ACSM1 1 64442 1.55178E-5 32221 0 8.7892E-6
16-20648493-C-T p.Ser40Asn missense ACSM1 1 64734 1.54478E-5 32367 0 NA
16-20648501-G-A p.Asp37Asp synonymous ACSM1 1 65450 1.52788E-5 32725 0 NA
16-20648514-A-G p.Met33Thr missense ACSM1 1 67572 1.4799E-5 33786 0 NA
16-20648545-C-T p.Ala23Thr missense ACSM1 1 72438 1.38049E-5 36219 0 3.20698E-5
16-20648546-C-T p.Glu22Glu synonymous ACSM1 13 72658 1.7892E-4 36329 0 3.85159E-4
16-20648548-C-T p.Glu22Lys missense ACSM1 1 73020 1.36949E-5 36510 0 4.16382E-6
16-20648553-T-C p.His20Arg missense ACSM1 1 73828 1.3545E-5 36914 0 NA
16-20648561-A-G c.55-4T>C splice_region ACSM1 11 75064 1.46542E-4 37532 0 1.0491E-4
16-20648690-G-C c.54+3C>G splice_region ACSM1 4 83180 4.80885E-5 41590 0 NA
16-20648694-T-C p.Gln18Arg missense+splice_region ACSM1 2 83182 2.40437E-5 41591 0 6.37349E-5
16-20648697-A-G p.Val17Ala missense ACSM1 1 83208 1.20181E-5 41604 0 NA
16-20648698-C-T p.Val17Ile missense ACSM1 3 83208 3.60542E-5 41604 0 1.40038E-4
16-20648699-G-A p.Asp16Asp synonymous ACSM1 8 83222 9.61284E-5 41611 0 1.35209E-4
16-20648701-C-T p.Asp16Asn missense ACSM1 22 83226 2.6434E-4 41613 0 4.77737E-4
16-20648702-G-A p.Tyr15Tyr synonymous ACSM1 21231 82802 0.256407 41401 3152 0.3925
16-20648707-G-A p.Pro14Ser missense ACSM1 2 83274 2.40171E-5 41637 0 3.29484E-5
16-20648711-A-G p.Thr12Thr synonymous ACSM1 1 83268 1.20094E-5 41634 0 8.2371E-6
16-20648723-C-T p.Met8Ile missense ACSM1 7 83270 8.40639E-5 41635 0 9.54411E-5
16-20648726-G-A p.Phe7Phe synonymous ACSM1 1 83268 1.20094E-5 41634 0 NA
16-20648732-C-T p.Pro5Pro synonymous ACSM1 1 83270 1.20091E-5 41635 0 8.23696E-5
16-20648733-G-A p.Pro5Leu missense ACSM1 4 83268 4.80377E-5 41634 0 1.64742E-5
16-20648736-T-C p.Lys4Arg missense ACSM1 2 83266 2.40194E-5 41633 0 NA
16-20648745-A-G p.Met1? start_lost ACSM1 4 83244 4.80515E-5 41622 0 8.23737E-6
16-20648763-C-A p.Cys376Phe missense ACSM1 1 83114 1.20317E-5 41557 0 1.7301E-4
16-20648769-A-G p.Leu374Pro missense ACSM1 1 83062 1.20392E-5 41531 0 NA
16-20648776-G-C c.-27-3C>G splice_region ACSM1 2 82940 2.41138E-5 41470 0 NA
16-20651783-C-T p.Thr372Thr splice_region+synonymous ACSM1 2 83186 2.40425E-5 41593 0 6.25E-4
16-20651784-G-A p.Thr372Met missense+splice_region ACSM1 2 83198 2.4039E-5 41599 0 9.55231E-5
16-20651788-C-T p.Glu371Lys missense ACSM1 4 83210 4.80711E-5 41605 0 3.29652E-5
16-20651789-C-T p.Ser370Ser synonymous ACSM1 6 83202 7.21137E-5 41601 0 6.25E-4
16-20651790-G-A p.Ser370Leu missense ACSM1 3 83208 3.60542E-5 41604 0 6.59283E-5
16-20651800-A-G p.Tyr367His missense ACSM1 5 83242 6.00658E-5 41621 0 4.11957E-5
16-20651804-C-T p.Glu365Glu synonymous ACSM1 9 83246 1.08113E-4 41623 0 9.55049E-5
16-20651811-A-G p.Leu363Pro missense ACSM1 5 83254 6.00572E-5 41627 0 1.59161E-5
16-20651813-C-A p.Leu362Leu synonymous ACSM1 1 83250 1.2012E-5 41625 0 NA
16-20651819-G-T p.Gly360Gly synonymous ACSM1 1 83240 1.20135E-5 41620 0 8.23873E-6
16-20651822-C-T p.Thr359Thr synonymous ACSM1 1 83238 1.20137E-5 41619 0 1.19365E-5
16-20651823-G-A p.Thr359Met missense ACSM1 3 83240 3.60404E-5 41620 0 3.18512E-5
16-20651826-C-T p.Arg358Gln missense ACSM1 1 83252 1.20117E-5 41626 0 3.1839E-5
16-20651827-G-A p.Arg358Trp missense ACSM1 7 83258 8.4076E-5 41629 0 0.00100705
16-20651840-C-T p.Glu353Glu synonymous ACSM1 1 83216 1.20169E-5 41608 0 8.23913E-6
16-20651841-T-C p.Glu353Gly missense ACSM1 1 83182 1.20218E-5 41591 0 8.23954E-6
16-20651842-C-T p.Glu353Lys missense ACSM1 4 83210 4.80711E-5 41605 0 1.39295E-4
16-20651848-C-T p.Asp351Asn missense ACSM1 1 83184 1.20215E-5 41592 0 1.59205E-5
16-20651854-G-A p.Pro349Ser missense ACSM1 1 83090 1.20351E-5 41545 0 7.96223E-6
16-20651856-A-G p.Leu348Ser missense ACSM1 1 83094 1.20346E-5 41547 0 3.98089E-6
16-20651857-A-T p.Leu348Met missense ACSM1 1 83074 1.20375E-5 41537 0 NA
16-20651860-C-T p.Val347Met missense ACSM1 3 83038 3.6128E-5 41519 0 3.18532E-5
16-20651869-C-T p.Gly344Arg missense ACSM1 2 83174 2.4046E-5 41587 0 3.29625E-5
16-20651870-G-A p.Gly343Gly synonymous ACSM1 18 83154 2.16466E-4 41577 0 0.004375
16-20651883-T-C p.His339Arg missense ACSM1 1 83116 1.20314E-5 41558 0 6.25E-4
16-20651887-C-T p.Glu338Lys missense ACSM1 1 83108 1.20325E-5 41554 0 3.98181E-6
16-20651892-G-A p.Ala336Val missense ACSM1 1 83088 1.20354E-5 41544 0 3.18532E-5
16-20651900-C-A p.Arg333Ser missense ACSM1 1 83040 1.20424E-5 41520 0 3.98451E-6
16-20673113-T-C c.-152+3A>G splice_region ACSM1 1 82134 1.21752E-5 41067 0 4.96894E-5
16-20673118-G-A p.Thr330Thr splice_region+synonymous ACSM1 8 82270 9.72408E-5 41135 0 6.37186E-5
16-20673120-T-A p.Thr330Ser missense ACSM1 1 82282 1.21533E-5 41141 0 NA
16-20673129-G-A p.Gln327* stop_gained ACSM1 1 82410 1.21345E-5 41205 0 NA
16-20673133-C-T p.Leu325Leu synonymous ACSM1 4 82420 4.85319E-5 41210 0 1.65412E-5
16-20673136-A-G p.Ile324Ile synonymous ACSM1 1 82430 1.21315E-5 41215 0 NA
16-20673140-A-T p.Met323Lys missense ACSM1 1 82454 1.2128E-5 41227 0 NA
16-20673143-C-T p.Arg322Gln missense ACSM1 1 82394 1.21368E-5 41197 0 8.26925E-6
16-20673144-G-A p.Arg322* stop_gained ACSM1 1 82434 1.21309E-5 41217 0 3.18532E-5
16-20673158-AC-A p.Val317fs frameshift ACSM1 1 82428 1.21318E-5 41214 0 1.1977E-5
16-20673168-A-C p.Phe314Val missense ACSM1 15 82382 1.82079E-4 41191 0 3.1955E-5
16-20673171-G-T p.His313Asn missense ACSM1 15 82276 1.82313E-4 41138 0 9.19757E-5
16-20673181-G-A p.Tyr309Tyr synonymous ACSM1 1 82164 1.21708E-5 41082 0 NA
16-20681146-T-C c.-232+3A>G splice_region ACSM1 2 83194 2.40402E-5 41597 0 8.25137E-6
16-20681147-A-T c.-232+2T>A splice_donor ACSM1 1 83194 1.20201E-5 41597 0 NA
16-20681174-T-C p.Gln296Arg missense ACSM1 1 83256 1.20111E-5 41628 0 NA
16-20681176-T-C p.Pro295Pro synonymous ACSM1 1 83256 1.20111E-5 41628 0 NA
16-20681190-T-TA p.Ile291fs frameshift ACSM1 1 83244 1.20129E-5 41622 0 7.96197E-6
16-20681198-G-A p.Thr288Ile missense ACSM1 2 83262 2.40206E-5 41631 0 0.00100705
16-20681203-A-G c.-286T>C 5_prime_UTR_premature_start_codon_gain ACSM1 1 83240 1.20135E-5 41620 0 NA
16-20681206-C-T p.Ala285Ala synonymous ACSM1 62 83236 7.4487E-4 41618 0 0.00356306
16-20681207-G-A p.Ala285Val missense ACSM1 4 83230 4.80596E-5 41615 0 3.18489E-5
16-20681225-A-C p.Leu279Arg missense ACSM1 1 83216 1.20169E-5 41608 0 2.47566E-5
16-20681228-G-A p.Thr278Ile missense ACSM1 1 83210 1.20178E-5 41605 0 NA
16-20681229-T-A p.Thr278Ser missense ACSM1 1346 83186 0.0161806 41593 73 0.0325144
16-20681235-T-C p.Ile276Val missense ACSM1 1 83208 1.20181E-5 41604 0 NA
16-20681245-A-C p.Ile272Met missense ACSM1 300 83198 0.00360586 41599 1 0.00774329
16-20681247-T-C p.Ile272Val missense ACSM1 1 83188 1.2021E-5 41594 0 1.65147E-5
16-20681257-G-T p.Asp268Glu missense ACSM1 130 83130 0.00156382 41565 0 0.00403226
16-20681260-C-A c.-343G>T 5_prime_UTR_premature_start_codon_gain ACSM1 1 83122 1.20305E-5 41561 0 NA
16-20681260-C-T p.Ser267Ser synonymous ACSM1 1 83122 1.20305E-5 41561 0 3.30671E-5
16-20681261-G-A p.Ser267Leu missense ACSM1 1 83126 1.20299E-5 41563 0 0.0015121
16-20681263-C-CA p.Ser267fs frameshift ACSM1 1 83122 1.20305E-5 41561 0 8.26843E-6
16-20681264-A-C p.Leu266Arg missense ACSM1 2 83120 2.40616E-5 41560 0 NA
16-20681267-C-T p.Cys265Tyr missense ACSM1 8 83098 9.62719E-5 41549 0 0.00121632
16-20681277-C-T p.Val262Ile missense ACSM1 1 83044 1.20418E-5 41522 0 NA
16-20681279-T-G p.Asp261Ala missense ACSM1 2 83038 2.40854E-5 41519 0 NA
16-20681280-C-T p.Asp261Asn missense ACSM1 2 83034 2.40865E-5 41517 0 4.78099E-5
16-20681287-C-T p.Lys258Lys synonymous ACSM1 2 82996 2.40975E-5 41498 0 3.18674E-5
16-20681288-T-C p.Lys258Arg missense ACSM1 805 82980 0.00970113 41490 30 0.0198929
16-20681293-G-C p.Ser256Arg missense ACSM1 3 82936 3.61725E-5 41468 0 2.50962E-5
16-20681296-C-A p.Arg255Arg synonymous ACSM1 2 82912 2.4122E-5 41456 0 3.98819E-6
16-20681297-C-T p.Arg255Gln missense ACSM1 8 82902 9.64995E-5 41451 0 6.25E-4
16-20681298-G-A p.Arg255Trp missense ACSM1 1 82858 1.20688E-5 41429 0 8.40576E-6
16-20681308-A-G p.Ser251Ser splice_region+synonymous ACSM1 1 82772 1.20814E-5 41386 0 NA
16-20682853-C-T p.Ser251Asn missense+splice_region ACSM1 1 83256 1.20111E-5 41628 0 NA
16-20682869-G-A p.Pro246Ser missense ACSM1 1 83314 1.20028E-5 41657 0 NA
16-20682883-C-A p.Gly241Val missense ACSM1 1 83328 1.20008E-5 41664 0 1.19657E-5
16-20682889-G-A p.Ser239Phe missense ACSM1 1 83332 1.20002E-5 41666 0 3.18634E-5
16-20682892-T-C p.His238Arg missense ACSM1 2 83324 2.40027E-5 41662 0 1.66279E-5
16-20682893-G-A p.His238Tyr missense ACSM1 247 83318 0.00296455 41659 0 0.00318674
16-20682903-C-G p.Lys234Asn missense ACSM1 2 83338 2.39987E-5 41669 0 NA
16-20682905-T-TG p.Lys234fs frameshift ACSM1 1 83336 1.19996E-5 41668 0 NA
16-20682909-G-A p.Phe232Phe synonymous ACSM1 1 83334 1.19999E-5 41667 0 NA
16-20682912-GCCT-G p.Gly231del disruptive_inframe_deletion ACSM1 1 83330 1.20005E-5 41665 0 NA
16-20682916-G-GAAC p.Thr230delinsSerSer conservative_inframe_insertion ACSM1 1 83322 1.20016E-5 41661 0 NA
16-20682922-C-T p.Gly228Glu missense ACSM1 1 83316 1.20025E-5 41658 0 3.18674E-5
16-20682943-A-G p.Met221Thr missense ACSM1 1 83288 1.20065E-5 41644 0 NA
16-20682944-T-C p.Met221Val missense ACSM1 1 83276 1.20083E-5 41638 0 3.18593E-5
16-20682944-T-G p.Met221Leu missense ACSM1 18 83276 2.16149E-4 41638 0 6.05327E-4
16-20682951-C-G p.Leu218Phe missense ACSM1 3 83262 3.60308E-5 41631 0 8.33764E-6
16-20682955-G-C p.Thr217Ser missense ACSM1 1 83260 1.20106E-5 41630 0 NA
16-20682992-A-G p.Ser205Pro missense+splice_region ACSM1 1 82598 1.21068E-5 41299 0 9.10639E-6
16-20682997-C-A c.-532-4G>T splice_region ACSM1 2 82532 2.4233E-5 41266 0 1.72735E-5
16-20682999-A-G c.-532-6T>C splice_region ACSM1 1 82566 1.21115E-5 41283 0 NA
16-20693586-C-T p.Ser201Ser synonymous ACSM1 3 81618 3.67566E-5 40809 0 6.30517E-4
16-20693587-G-A p.Ser201Leu missense ACSM1 2 81736 2.4469E-5 40868 0 3.3065E-5
16-20693590-C-T p.Arg200Gln missense ACSM1 17 81836 2.07733E-4 40918 0 5.4147E-4
16-20693591-G-A p.Arg200* stop_gained ACSM1 7 81906 8.54638E-5 40953 0 5.58218E-5
16-20693603-A-G p.Trp196Arg missense ACSM1 1 82274 1.21545E-5 41137 0 NA
16-20693604-C-T c.-559G>A 5_prime_UTR_premature_start_codon_gain ACSM1 2 82300 2.43013E-5 41150 0 NA
16-20693611-C-G p.Arg193Pro missense ACSM1 2 82444 2.42589E-5 41222 0 1.91144E-4
16-20693611-C-T p.Arg193His missense ACSM1 2 82444 2.42589E-5 41222 0 8.24579E-6
16-20693612-G-A p.Arg193Cys missense ACSM1 5 82484 6.06178E-5 41242 0 3.18679E-5
16-20693614-C-T p.Ser192Asn missense ACSM1 3 82540 3.6346E-5 41270 0 1.19497E-5
16-20693625-C-A p.Val188Val synonymous ACSM1 1 82706 1.2091E-5 41353 0 NA
16-20693628-C-T p.Leu187Leu synonymous ACSM1 1 82748 1.20849E-5 41374 0 NA
16-20693634-C-T p.Lys185Lys synonymous ACSM1 1 82784 1.20796E-5 41392 0 NA
16-20693646-A-AT p.Leu182fs frameshift ACSM1 1 82862 1.20683E-5 41431 0 NA
16-20693647-G-C p.Ser181Cys missense ACSM1 1 82882 1.20653E-5 41441 0 NA
16-20693648-AGG-A p.Pro180fs frameshift ACSM1 1 82884 1.20651E-5 41442 0 NA
16-20693652-G-A p.Cys179Cys synonymous ACSM1 28 82876 3.37854E-4 41438 0 1.81327E-4
16-20693658-A-G p.Ser177Ser synonymous ACSM1 2 82966 2.41063E-5 41483 0 NA
16-20693663-C-G p.Ala176Pro missense ACSM1 1333 82962 0.0160676 41481 15 0.0219885
16-20693664-T-A c.-619A>T 5_prime_UTR_premature_start_codon_gain ACSM1 1 83002 1.20479E-5 41501 0 NA
16-20693676-C-T p.Glu171Glu synonymous ACSM1 2 83046 2.4083E-5 41523 0 8.24389E-6
16-20693677-T-C p.Glu171Gly missense ACSM1 1 83046 1.20415E-5 41523 0 7.95938E-6
16-20693682-G-A p.Ala169Ala synonymous ACSM1 1 83056 1.20401E-5 41528 0 7.95925E-6
16-20693689-G-T p.Ala167Asp missense ACSM1 1 83074 1.20375E-5 41537 0 7.16327E-5
16-20693695-A-G p.Ile165Thr missense ACSM1 2 83116 2.40628E-5 41558 0 6.59739E-5
16-20693719-G-A p.Ser157Phe missense ACSM1 2 83178 2.40448E-5 41589 1 6.25E-4
16-20693731-C-T p.Arg153Gln missense ACSM1 3 83194 3.60603E-5 41597 0 3.18796E-5
16-20693734-T-C p.Tyr152Cys missense ACSM1 1 83184 1.20215E-5 41592 0 3.18674E-5
16-20693738-G-A p.Leu151Phe missense ACSM1 15 83198 1.80293E-4 41599 0 9.0834E-5
16-20693738-G-C p.Leu151Val missense ACSM1 1 83202 1.20189E-5 41601 0 1.65153E-5
16-20693742-G-A p.Asp149Asp synonymous ACSM1 1 83178 1.20224E-5 41589 0 NA
16-20693743-T-A p.Asp149Val missense ACSM1 7 83176 8.41589E-5 41588 0 0.003125
16-20693766-C-T p.Ala141Ala synonymous ACSM1 2 83100 2.40674E-5 41550 0 1.66085E-5
16-20696510-C-T c.-741+5G>A splice_region ACSM1 1 83014 1.20462E-5 41507 0 3.98143E-6
16-20696511-T-G c.-741+4A>C splice_region ACSM1 4 83032 4.81742E-5 41516 0 9.55597E-5
16-20696514-C-A c.-741+1G>T splice_donor ACSM1 1 83064 1.20389E-5 41532 0 NA
16-20696520-C-T p.Arg133Gln missense ACSM1 3 83096 3.61028E-5 41548 1 1.64872E-4
16-20696521-G-A p.Arg133* stop_gained ACSM1 3 83106 3.60985E-5 41553 0 6.37227E-5
16-20696526-C-T p.Cys131Tyr missense ACSM1 1 83128 1.20296E-5 41564 0 8.24171E-6
16-20696532-A-ACAGCCAC p.Val129fs frameshift ACSM1 1 83164 1.20244E-5 41582 0 NA
16-20696559-C-T p.Arg120Gln missense ACSM1 2 83270 2.40183E-5 41635 0 1.19332E-5
16-20696559-C-G p.Arg120Pro missense ACSM1 2 83270 2.40183E-5 41635 0 2.78441E-5
16-20696560-G-A p.Arg120* stop_gained ACSM1 5 83276 6.00413E-5 41638 0 1.15325E-4
16-20696590-G-C p.Gln110Glu missense ACSM1 1 83346 1.19982E-5 41673 0 3.977E-6
16-20696591-T-C p.Gln109Gln synonymous ACSM1 1 83346 1.19982E-5 41673 0 3.18512E-5
16-20696593-G-C p.Gln109Glu missense ACSM1 1 83348 1.19979E-5 41674 0 NA
16-20696596-G-C p.Leu108Val missense ACSM1 1 83348 1.19979E-5 41674 0 NA
16-20696596-G-A p.Leu108Leu synonymous ACSM1 1 83348 1.19979E-5 41674 0 NA
16-20696600-A-G p.Cys106Cys synonymous ACSM1 2 83354 2.3994E-5 41677 0 NA
16-20696608-G-T p.Gln104Lys missense ACSM1 2 83356 2.39935E-5 41678 0 3.18512E-5
16-20696617-C-T p.Val101Ile missense ACSM1 20 83362 2.39917E-4 41681 0 7.00771E-4
16-20696618-G-A c.-844C>T 5_prime_UTR_premature_start_codon_gain ACSM1 11 83362 1.31955E-4 41681 0 6.37186E-5
16-20696628-C-T p.Arg97His missense ACSM1 8 83370 9.59578E-5 41685 0 4.77798E-4
16-20696629-G-A p.Arg97Cys missense ACSM1 1 83366 1.19953E-5 41683 0 1.64737E-5
16-20696631-C-T p.Arg96His missense ACSM1 2 83366 2.39906E-5 41683 0 9.55779E-5
16-20696660-C-T p.Trp86* stop_gained ACSM1 3 83392 3.59747E-5 41696 0 3.18552E-5
16-20696673-T-G p.Asp82Ala missense ACSM1 22 83394 2.63808E-4 41697 0 1.91217E-4
16-20696676-C-A p.Gly81Val missense ACSM1 1 83390 1.19918E-5 41695 0 NA
16-20696680-G-C p.Gln80Glu missense ACSM1 1 83390 1.19918E-5 41695 0 NA
16-20696686-TCA-T p.Val77fs frameshift ACSM1 16 83394 1.9186E-4 41697 0 4.25566E-4
16-20696691-C-T p.Trp76* stop_gained ACSM1 4 83388 4.79685E-5 41694 0 NA
16-20696718-T-C p.Lys67Arg missense ACSM1 1 83324 1.20013E-5 41662 0 NA
16-20702313-T-C c.-952+6A>G splice_region ACSM1 1 83256 1.20111E-5 41628 0 NA
16-20702322-C-T p.Glu63Glu synonymous ACSM1 1 83304 1.20042E-5 41652 0 NA
16-20702325-C-T p.Lys62Lys synonymous ACSM1 4 83324 4.80054E-5 41662 0 4.12065E-5
16-20702346-T-C p.Val55Val synonymous ACSM1 21 83348 2.51956E-4 41674 0 2.96609E-4
16-20702349-A-G p.Tyr54Tyr synonymous ACSM1 1 83354 1.1997E-5 41677 0 3.98867E-6
16-20702352-A-C p.Ser53Arg missense ACSM1 2 83350 2.39952E-5 41675 0 3.98889E-6
16-20702354-T-A p.Ser53Cys missense ACSM1 1 83352 1.19973E-5 41676 0 NA
16-20702356-G-A p.Ala52Val missense ACSM1 2 83354 2.3994E-5 41677 0 1.6478E-5
16-20702373-C-T p.Pro46Pro synonymous ACSM1 6 83354 7.19821E-5 41677 0 9.55171E-5
16-20702374-G-A p.Pro46Leu missense ACSM1 2 83350 2.39952E-5 41675 0 9.55292E-5
16-20702381-C-T p.Glu44Lys missense ACSM1 3 83358 3.59893E-5 41679 0 NA
16-20702394-T-C p.Arg39Arg synonymous ACSM1 1 83370 1.19947E-5 41685 0 NA
16-20702422-C-T p.Arg30Gln missense ACSM1 7 83388 8.39449E-5 41694 0 5.76654E-5
16-20702423-G-A p.Arg30Trp missense ACSM1 13 83388 1.55898E-4 41694 0 6.85488E-4
16-20702428-C-T p.Arg28His missense ACSM1 1 83388 1.19921E-5 41694 0 1.64761E-5
16-20702429-G-A p.Arg28Cys missense ACSM1 3 83388 3.59764E-5 41694 0 1.35516E-4
16-20702430-C-T p.Leu27Leu synonymous ACSM1 1 83392 1.19916E-5 41696 0 1.64764E-5
16-20702447-G-A p.Pro22Ser missense ACSM1 1 83388 1.19921E-5 41694 0 NA
16-20702457-G-A p.His18His synonymous ACSM1 2 83388 2.39843E-5 41694 0 NA
16-20702485-G-T p.Thr9Asn missense ACSM1 1 83328 1.20008E-5 41664 0 NA
16-20702488-C-T p.Arg8Gln missense ACSM1 2 83298 2.40102E-5 41649 0 2.09419E-5
16-20702489-G-A p.Arg8Trp missense ACSM1 1 83276 1.20083E-5 41638 0 2.51404E-5
16-20702491-A-C p.Phe7Cys missense ACSM1 8 83262 9.60822E-5 41631 0 9.63811E-5
16-20702492-A-G p.Phe7Leu missense ACSM1 1 83256 1.20111E-5 41628 0 3.18431E-5
16-20702493-C-T p.Arg6Arg synonymous ACSM1 1 83230 1.20149E-5 41615 0 NA
16-20702494-C-A p.Arg6Met missense ACSM1 3 83214 3.60516E-5 41607 0 5.03525E-4
16-20702502-C-A p.Trp3Cys missense ACSM1 1 83068 1.20383E-5 41534 0 2.20396E-5
16-20702502-C-T p.Trp3* stop_gained ACSM1 1 83068 1.20383E-5 41534 0 3.1835E-5
16-20702509-A-G p.Met1? start_lost ACSM1 4 82962 4.82148E-5 41481 0 6.36699E-5
16-20702540-G-A c.-1173C>T 5_prime_UTR_premature_start_codon_gain ACSM1 1 82340 1.21448E-5 41170 0 NA
16-20702557-C-T c.-1190G>A 5_prime_UTR_premature_start_codon_gain ACSM1 1 81814 1.22228E-5 40907 0 3.1835E-5
16-20702563-T-C c.-51-2A>G splice_acceptor ACSM1 1 81782 1.22276E-5 40891 0 NA
16-20702564-T-G c.-51-3A>C splice_region ACSM1 1 81760 1.22309E-5 40880 0 NA
16-20702569-A-G c.-51-8T>C splice_region ACSM1 2 81464 2.45507E-5 40732 0 NA