Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-135600970-T-A n.488A>T splice_region AK8 2 64434 3.10395E-5 32217 0 NA
9-135600971-C-CCT n.486_487insAG splice_region AK8 1 64814 1.54288E-5 32407 0 NA
9-135601087-C-G p.Lys476Asn missense AK8 82 82112 9.98636E-4 41056 0 0.00200701
9-135601088-T-C p.Lys476Arg missense AK8 20 82116 2.43558E-4 41058 0 7.33797E-4
9-135601091-G-C p.Pro475Arg missense AK8 2 82126 2.43528E-5 41063 0 3.18613E-5
9-135601093-C-T p.Leu474Leu synonymous AK8 1 82166 1.21705E-5 41083 0 4.85159E-6
9-135601095-G-T p.Leu474Met missense AK8 1 82206 1.21646E-5 41103 0 NA
9-135601096-G-C p.Pro473Pro synonymous AK8 5 82220 6.08125E-5 41110 0 5.05051E-4
9-135601097-G-T p.Pro473His missense AK8 1 82242 1.21592E-5 41121 0 4.83662E-6
9-135601105-G-T p.Ile470Ile synonymous AK8 1 82358 1.21421E-5 41179 0 NA
9-135601108-C-A p.Gly469Gly synonymous AK8 1 82400 1.21359E-5 41200 0 NA
9-135601109-C-T p.Gly469Glu missense AK8 13 82394 1.57778E-4 41197 0 1.19557E-4
9-135601117-G-A p.Ile466Ile synonymous AK8 6 82462 7.27608E-5 41231 0 5.22051E-4
9-135601125-C-G p.Glu464Gln missense AK8 20 82546 2.42289E-4 41273 0 3.5043E-4
9-135601126-G-A p.Phe463Phe synonymous AK8 1092 82516 0.0132338 41258 37 0.0294474
9-135601132-T-C p.Thr461Thr synonymous AK8 6 82618 7.26234E-5 41309 0 1.52718E-4
9-135601140-G-T p.Pro459Thr missense AK8 1 82638 1.2101E-5 41319 0 3.18532E-5
9-135601143-C-T p.Asp458Asn missense AK8 3 82642 3.63012E-5 41321 0 2.23015E-4
9-135601150-C-G p.Gly455Gly synonymous AK8 2 82682 2.41891E-5 41341 0 NA
9-135601154-T-C p.Asn454Ser missense AK8 6 82708 7.25444E-5 41354 0 9.9486E-5
9-135601158-G-C p.Leu453Val missense AK8 1 82718 1.20893E-5 41359 0 NA
9-135601162-G-A p.Ile451Ile synonymous AK8 3 82698 3.62766E-5 41349 0 8.67378E-6
9-135601165-G-A p.Ala450Ala synonymous AK8 1 82702 1.20916E-5 41351 0 NA
9-135601168-C-T p.Ser449Ser synonymous AK8 26 82706 3.14367E-4 41353 0 6.90905E-4
9-135601169-G-A p.Ser449Leu missense AK8 1 82712 1.20901E-5 41356 0 0.00252016
9-135601169-G-C p.Ser449Trp missense AK8 1 82712 1.20901E-5 41356 0 NA
9-135601182-G-A p.Gln445* stop_gained AK8 1 82736 1.20866E-5 41368 0 NA
9-135601189-G-C p.Asp442Glu missense AK8 2 82744 2.41709E-5 41372 0 1.37582E-5
9-135601194-CT-C p.Ala441fs frameshift AK8 5 82744 6.04273E-5 41372 0 1.59256E-4
9-135601202-C-T p.Arg438Lys missense AK8 3 82746 3.62555E-5 41373 0 5.04032E-4
9-135601224-G-T p.Leu431Met missense AK8 1 82692 1.20931E-5 41346 0 NA
9-135601265-C-T p.Arg417His missense AK8 1 82626 1.21027E-5 41313 0 4.09702E-5
9-135601266-G-A p.Arg417Cys missense AK8 1 82664 1.20972E-5 41332 0 2.82712E-5
9-135601266-G-T p.Arg417Ser missense AK8 2 82664 2.41943E-5 41332 0 NA
9-135601269-C-G p.Ala416Pro missense AK8 1 82662 1.20975E-5 41331 0 4.03568E-6
9-135601272-G-A p.Gln415* stop_gained AK8 1 82678 1.20951E-5 41339 0 9.98981E-6
9-135601280-A-G p.Met412Thr missense AK8 1 82664 1.20972E-5 41332 0 NA
9-135601300-C-T p.Met405Ile missense AK8 2 82594 2.42148E-5 41297 0 4.02836E-5
9-135601312-C-A p.Arg401Ser missense+splice_region AK8 1 82476 1.21247E-5 41238 0 3.18695E-5
9-135601320-G-A c.1203-8C>T splice_region AK8 1 82360 1.21418E-5 41180 0 9.53107E-6
9-135602855-T-G p.Pro396Pro synonymous AK8 3 83268 3.60282E-5 41634 0 6.37308E-5
9-135602879-C-G p.Arg388Arg synonymous AK8 9 83302 1.08041E-4 41651 0 6.05674E-4
9-135602880-C-T p.Arg388Gln missense AK8 10 83298 1.20051E-4 41649 0 6.36228E-5
9-135602883-TCC-T p.Met386fs frameshift AK8 1 83280 1.20077E-5 41640 0 NA
9-135602885-C-T p.Met386Ile missense AK8 2 83290 2.40125E-5 41645 0 3.18492E-5
9-135602887-T-G p.Met386Leu missense AK8 2 83286 2.40136E-5 41643 0 3.97643E-6
9-135602898-A-T p.Phe382Tyr missense AK8 1 83278 1.2008E-5 41639 0 3.18532E-5
9-135602902-G-A p.Pro381Ser missense AK8 4 83284 4.80284E-5 41642 0 6.37349E-5
9-135602907-T-C p.Asn379Ser missense AK8 2 83270 2.40183E-5 41635 0 3.18857E-5
9-135602909-C-A p.Leu378Leu synonymous AK8 196 83270 0.00235379 41635 4 0.00421079
9-135668028-G-A p.Pro372Ser missense AK8 2 79402 2.51883E-5 39701 0 NA
9-135668037-C-T p.Gly369Ser missense AK8 1 79624 1.2559E-5 39812 0 NA
9-135668042-C-T p.Arg367His missense AK8 5 79754 6.26928E-5 39877 0 0.00126103
9-135668042-C-G p.Arg367Pro missense AK8 1 79754 1.25386E-5 39877 0 6.16987E-6
9-135668043-G-A p.Arg367Cys missense AK8 21 79856 2.62973E-4 39928 0 8.19514E-4
9-135668050-C-A p.Leu364Leu synonymous AK8 1 80052 1.24919E-5 40026 0 NA
9-135668050-C-T p.Leu364Leu synonymous AK8 1 80052 1.24919E-5 40026 0 NA
9-135668064-C-T p.Asp360Asn missense AK8 22 80362 2.73761E-4 40181 0 3.2546E-4
9-135668072-C-T p.Arg357Gln missense AK8 2 80636 2.48028E-5 40318 0 1.21947E-5
9-135668073-G-A p.Arg357Trp missense AK8 1 80674 1.23956E-5 40337 0 1.37716E-4
9-135668074-C-T p.Pro356Pro synonymous AK8 4 80692 4.95712E-5 40346 0 3.2063E-4
9-135668075-G-A p.Pro356Leu missense AK8 2 80764 2.47635E-5 40382 0 2.43318E-5
9-135668079-C-T p.Val355Ile missense AK8 2 80818 2.4747E-5 40409 0 6.69206E-5
9-135668080-G-A p.Gly354Gly synonymous AK8 4 80882 4.94548E-5 40441 0 4.57122E-5
9-135668082-C-T p.Gly354Ser missense AK8 6 80916 7.4151E-5 40458 0 3.64069E-5
9-135668083-G-A p.His353His synonymous AK8 7 80934 8.64902E-5 40467 0 0.00362694
9-135668126-C-T p.Arg339His missense AK8 1 81270 1.23047E-5 40635 0 1.36961E-4
9-135668127-G-A p.Arg339Cys missense AK8 256 81294 0.00314906 40647 1 0.00592659
9-135668146-G-T p.Leu332Leu synonymous AK8 1 81308 1.22989E-5 40654 0 NA
9-135668149-G-A p.Leu331Leu synonymous AK8 1 81310 1.22986E-5 40655 0 2.31139E-4
9-135668154-T-C p.Ser330Gly missense AK8 3 81296 3.69022E-5 40648 0 2.38356E-5
9-135668159-G-T p.Pro328His missense AK8 1 81282 1.23028E-5 40641 0 NA
9-135668160-G-A p.Pro328Ser missense+splice_region AK8 67 81282 8.24291E-4 40641 0 9.01842E-4
9-135668162-A-G p.Val327Ala missense+splice_region AK8 1 81274 1.23041E-5 40637 0 NA
9-135668166-C-A c.980-4G>T splice_region AK8 52 81236 6.4011E-4 40618 0 0.00101963
9-135668170-G-A c.980-8C>T splice_region AK8 1 81228 1.2311E-5 40614 0 9.60707E-5
9-135690032-C-T p.Glu324Glu synonymous AK8 1 83218 1.20166E-5 41609 0 1.51241E-4
9-135690044-G-T p.Phe320Leu missense AK8 1 83234 1.20143E-5 41617 0 NA
9-135690053-G-A p.Ile317Ile synonymous AK8 1 83264 1.201E-5 41632 0 1.31839E-4
9-135690053-G-C p.Ile317Met missense AK8 1 83264 1.201E-5 41632 0 NA
9-135690059-C-T p.Glu315Glu synonymous AK8 1 83266 1.20097E-5 41633 0 NA
9-135690061-C-T p.Glu315Lys missense AK8 175 83244 0.00210225 41622 0 0.0040282
9-135690062-G-T p.Gly314Gly synonymous AK8 2 83242 2.40263E-5 41621 0 4.94389E-5
9-135690069-G-A p.Thr312Met missense AK8 6 83236 7.20842E-5 41618 0 6.37389E-5
9-135690073-T-C p.Thr311Ala missense AK8 1 83242 1.20132E-5 41621 0 NA
9-135698586-A-G c.889+6T>C splice_region AK8 1 83026 1.20444E-5 41513 0 1.96551E-5
9-135698594-T-C p.Asn296Ser missense+splice_region AK8 2 83126 2.40599E-5 41563 0 NA
9-135698625-C-T p.Ala286Thr missense AK8 1 83310 1.20034E-5 41655 0 NA
9-135698626-G-A p.Ala285Ala synonymous AK8 3 83312 3.60092E-5 41656 0 5.03525E-4
9-135698628-C-T p.Ala285Thr missense AK8 1 83324 1.20013E-5 41662 0 8.69399E-6
9-135698641-C-T p.Gly280Gly synonymous AK8 1 83346 1.19982E-5 41673 0 NA
9-135698642-C-T p.Gly280Glu missense AK8 1 83346 1.19982E-5 41673 0 NA
9-135698657-C-A p.Gly275Val missense AK8 1 83354 1.1997E-5 41677 0 3.18492E-5
9-135698658-C-T p.Gly275Arg missense AK8 1 83356 1.19967E-5 41678 0 2.40952E-5
9-135698659-G-A p.Leu274Leu synonymous AK8 10 83360 1.19962E-4 41680 0 2.42946E-4
9-135698664-G-C p.Leu273Val missense AK8 1 83368 1.1995E-5 41684 0 1.66753E-5
9-135698674-C-T p.Pro269Pro synonymous AK8 8 83366 9.59624E-5 41683 0 1.07728E-4
9-135698677-G-A p.Thr268Thr synonymous AK8 1 83366 1.19953E-5 41683 0 3.98673E-6
9-135698680-G-T p.Phe267Leu missense AK8 1 83372 1.19944E-5 41686 0 NA
9-135698683-C-T p.Pro266Pro synonymous AK8 1 83380 1.19933E-5 41690 0 3.18715E-5
9-135698686-G-T p.Ala265Ala synonymous AK8 6 83384 7.19563E-5 41692 0 1.99118E-5
9-135698696-C-T p.Arg262His missense AK8 1 83380 1.19933E-5 41690 0 3.98057E-6
9-135698697-G-C p.Arg262Gly missense AK8 1 83382 1.1993E-5 41691 0 8.24851E-6
9-135698714-T-C p.Tyr256Cys missense AK8 3 83372 3.59833E-5 41686 0 8.24171E-6
9-135698716-G-C p.Thr255Thr synonymous AK8 1 83378 1.19936E-5 41689 0 1.40114E-4
9-135698728-A-G c.758-5T>C splice_region AK8 1 83370 1.19947E-5 41685 0 8.24144E-6
9-135702242-C-A p.Gln252His missense+splice_region AK8 3 82738 3.6259E-5 41369 0 3.98257E-6
9-135702245-G-T p.Tyr251* stop_gained AK8 1 82802 1.2077E-5 41401 0 NA
9-135702249-A-G p.Phe250Ser missense AK8 1 82912 1.2061E-5 41456 0 3.97972E-6
9-135702251-G-GA p.Phe250fs frameshift AK8 1 82946 1.2056E-5 41473 0 NA
9-135702253-C-T p.Val249Ile missense AK8 3 82960 3.6162E-5 41480 0 6.36862E-5
9-135702261-C-G p.Cys246Ser missense AK8 1 83104 1.20331E-5 41552 0 8.23669E-6
9-135702263-T-C p.Pro245Pro synonymous AK8 1 83132 1.20291E-5 41566 0 3.97795E-6
9-135702264-G-T p.Pro245Gln missense AK8 1 83150 1.20265E-5 41575 0 3.1837E-5
9-135702269-G-T p.Asp243Glu missense AK8 1 83170 1.20236E-5 41585 0 NA
9-135702289-G-A p.Leu237Phe missense AK8 3 83256 3.60334E-5 41628 1 NA
9-135702295-T-G p.Lys235Gln missense AK8 1 83278 1.2008E-5 41639 0 3.97655E-6
9-135702298-G-A p.Pro234Ser missense AK8 5 83282 6.0037E-5 41641 0 1.64728E-4
9-135702299-G-T p.Tyr233* stop_gained AK8 1 83286 1.20068E-5 41643 0 3.97636E-6
9-135702305-G-A p.Pro231Pro synonymous AK8 1 83304 1.20042E-5 41652 0 NA
9-135702307-G-A p.Pro231Ser missense AK8 5 83304 6.00211E-5 41652 0 8.23642E-6
9-135702318-A-C p.Val227Gly missense AK8 53 83322 6.36087E-4 41661 0 4.73176E-4
9-135702319-C-T p.Val227Ile missense AK8 8 83328 9.60061E-5 41664 0 6.58913E-5
9-135702353-C-T p.Thr215Thr synonymous AK8 3 83340 3.59971E-5 41670 0 3.97621E-6
9-135702354-G-A p.Thr215Met missense AK8 4 83336 4.79985E-5 41668 0 1.27372E-4
9-135702363-T-C p.Glu212Gly missense AK8 1 83334 1.19999E-5 41667 0 3.97624E-6
9-135702368-GA-TG p.Ile210Thr missense AK8 1 83338 1.19993E-5 41669 0 NA
9-135702391-G-A p.Arg203Cys missense AK8 5 83316 6.00125E-5 41658 0 3.29462E-5
9-135702392-GT-G p.Asn202fs frameshift AK8 13 83308 1.56047E-4 41654 0 9.94091E-5
9-135702397-G-A p.Gln201* stop_gained AK8 1 83304 1.20042E-5 41652 0 NA
9-135702404-A-C p.Ser198Ser synonymous AK8 1 83270 1.20091E-5 41635 0 NA
9-135702407-T-C p.Glu197Glu synonymous AK8 1 83262 1.20103E-5 41631 0 NA
9-135702409-C-T p.Glu197Lys missense AK8 2 83234 2.40286E-5 41617 0 7.15888E-5
9-135702410-G-A p.Pro196Pro synonymous AK8 7 83232 8.41023E-5 41616 0 0.00151057
9-135702431-G-A p.His189His synonymous AK8 1 83036 1.2043E-5 41518 0 NA
9-135702440-C-T p.Glu186Glu splice_region+synonymous AK8 1 82904 1.20621E-5 41452 0 NA
9-135702447-A-T c.557-6T>A splice_region AK8 1 82810 1.20758E-5 41405 0 NA
9-135702448-G-A c.557-7C>T splice_region AK8 4 82812 4.83022E-5 41406 0 1.95459E-4
9-135702691-T-TA n.1471+2_1471+3insT splice_donor AK8 1 60266 1.65931E-5 30133 0 NA
9-135702820-T-C n.1345A>G splice_region AK8 1 49992 2.00032E-5 24996 0 3.18613E-5
9-135703231-T-G n.1342+5A>C splice_region AK8 1 56786 1.761E-5 28393 0 NA
9-135703233-T-A n.1342+3A>T splice_region AK8 1 57712 1.73274E-5 28856 0 NA
9-135703402-C-G p.Gly185Ala missense+splice_region AK8 1 81740 1.22339E-5 40870 0 3.18512E-5
9-135703406-T-C p.Thr184Ala missense AK8 1 81754 1.22318E-5 40877 0 NA
9-135703413-G-A p.Asp181Asp synonymous AK8 1 81818 1.22222E-5 40909 0 3.18512E-5
9-135703416-G-A p.Ile180Ile synonymous AK8 4 81838 4.8877E-5 40919 0 NA
9-135703419-T-G p.Arg179Ser missense AK8 12 81858 1.46595E-4 40929 0 0.00125
9-135703421-T-C p.Arg179Gly missense AK8 1 81882 1.22127E-5 40941 0 NA
9-135703430-A-G p.Leu176Leu synonymous AK8 5 81856 6.10829E-5 40928 0 5.06586E-4
9-135703447-AC-A p.Val170fs frameshift AK8 1 81896 1.22106E-5 40948 0 1.05289E-5
9-135703450-G-T p.Thr169Lys missense AK8 208 81898 0.00253974 40949 0 0.0106061
9-135703450-G-A p.Thr169Met missense AK8 2 81906 2.44182E-5 40953 0 7.45935E-5
9-135703455-T-A p.Pro167Pro synonymous AK8 1 81912 1.22082E-5 40956 0 NA
9-135703458-A-G p.Ala166Ala synonymous AK8 11 81922 1.34274E-4 40961 0 5.05561E-4
9-135703459-G-T p.Ala166Asp missense AK8 1 81912 1.22082E-5 40956 0 NA
9-135703460-C-A p.Ala166Ser missense AK8 2 81910 2.4417E-5 40955 0 NA
9-135703464-C-A p.Leu164Leu synonymous AK8 1 81948 1.22029E-5 40974 0 5.41237E-6
9-135703465-A-G p.Leu164Pro missense AK8 1 81944 1.22035E-5 40972 0 NA
9-135703469-C-A p.Val163Leu missense+splice_region AK8 1 81928 1.22058E-5 40964 0 NA
9-135703474-G-C c.485-3C>G splice_region AK8 1 81926 1.22061E-5 40963 0 NA
9-135703475-G-A c.485-4C>T splice_region AK8 893 81922 0.0109006 40961 7 0.015827
9-135704029-C-T c.484+3G>A splice_region AK8 1 82668 1.20966E-5 41334 0 NA
9-135704035-C-T p.Val161Ile missense AK8 1 82764 1.20825E-5 41382 0 3.16142E-5
9-135704037-T-A p.His160Leu missense AK8 22 82806 2.65681E-4 41403 0 6.25E-4
9-135704046-G-C p.Thr157Arg missense AK8 2 82954 2.41097E-5 41477 1 NA
9-135704055-AG-A p.Leu154fs frameshift AK8 1 83056 1.20401E-5 41528 0 NA
9-135704071-G-C p.Leu149Val missense AK8 1 83130 1.20294E-5 41565 0 NA
9-135704075-C-T p.Gln147Gln synonymous AK8 1 83126 1.20299E-5 41563 0 3.73867E-5
9-135704080-C-T p.Glu146Lys missense AK8 2 83142 2.40552E-5 41571 0 NA
9-135704082-C-T p.Arg145His missense AK8 3 83148 3.60802E-5 41574 0 8.34926E-5
9-135704083-G-A p.Arg145Cys missense AK8 4 83134 4.81151E-5 41567 0 3.71119E-5
9-135704084-C-T p.Thr144Thr synonymous AK8 2 83136 2.4057E-5 41568 0 3.18471E-5
9-135704085-G-A p.Thr144Met missense AK8 23 83130 2.76675E-4 41565 0 0.00151362
9-135704094-A-T p.Ile141Asn missense AK8 1 83148 1.20267E-5 41574 0 1.60035E-5
9-135704100-T-C p.Asp139Gly missense AK8 1 83124 1.20302E-5 41562 0 9.29593E-6
9-135730237-G-T c.402+7C>A splice_region AK8 3 83220 3.6049E-5 41610 0 8.25178E-6
9-135730257-T-C p.Asp130Gly missense AK8 3331 83240 0.0400168 41620 85 0.0575
9-135730262-T-G p.Glu128Asp missense AK8 2 83288 2.40131E-5 41644 0 3.1814E-5
9-135730265-A-G p.Ala127Ala synonymous AK8 5 83282 6.0037E-5 41641 0 2.47341E-5
9-135730272-C-T p.Arg125His missense AK8 3 83288 3.60196E-5 41644 0 5.03525E-4
9-135730273-G-A p.Arg125Cys missense AK8 3 83288 3.60196E-5 41644 0 0.00100705
9-135730288-G-A p.Gln120* stop_gained AK8 4 83302 4.80181E-5 41651 0 4.12453E-5
9-135730291-CGAGCAGCGCGCTGGGAACTGTCT-C p.Thr112_Val119del splice_acceptor AK8 3 83296 3.60161E-5 41648 0 3.18573E-5
9-135730291-C-T p.Val119Ile missense AK8 3 83296 3.60161E-5 41648 0 3.18573E-5
9-135730292-G-A p.Leu118Leu synonymous AK8 4 83290 4.8025E-5 41645 0 3.97697E-5
9-135730299-G-C p.Ala116Gly missense AK8 30 83268 3.60282E-4 41634 0 6.37674E-5
9-135730299-G-A p.Ala116Val missense AK8 16 83272 1.92141E-4 41636 0 6.25E-4
9-135730308-A-G p.Val113Ala missense AK8 4 83244 4.80515E-5 41622 0 7.95444E-6
9-135739047-C-T c.333+5G>A splice_region AK8 2 81604 2.45086E-5 40802 0 3.98991E-6
9-135739051-C-T c.333+1G>A splice_donor AK8 1 81764 1.22303E-5 40882 0 NA
9-135739064-A-T p.Tyr107* stop_gained AK8 1 82140 1.21743E-5 41070 0 8.39772E-6
9-135739075-T-C p.Arg104Gly missense AK8 1 82484 1.21236E-5 41242 0 NA
9-135739081-C-T p.Glu102Lys missense AK8 2 82580 2.42189E-5 41290 0 5.06586E-4
9-135739086-G-T p.Ala100Asp missense AK8 2 82728 2.41756E-5 41364 0 3.97867E-6
9-135739088-C-T p.Thr99Thr synonymous AK8 4 82730 4.83501E-5 41365 0 6.26566E-4
9-135739089-G-A p.Thr99Met missense AK8 6 82762 7.2497E-5 41381 0 2.22902E-4
9-135739099-A-T p.Phe96Ile missense AK8 3 82968 3.61585E-5 41484 0 0.00101317
9-135739100-C-A p.Glu95Asp missense AK8 1 82988 1.20499E-5 41494 0 4.97331E-5
9-135739127-G-A p.Leu86Leu synonymous AK8 27 83092 3.24941E-4 41546 0 2.14813E-4
9-135739134-C-T p.Ser84Asn missense AK8 3 83084 3.6108E-5 41542 0 3.18431E-5
9-135739149-T-C p.Lys79Arg missense AK8 1 83052 1.20406E-5 41526 0 NA
9-135739152-C-T p.Cys78Tyr missense AK8 1 83046 1.20415E-5 41523 0 NA
9-135739153-A-G p.Cys78Arg missense AK8 1 83042 1.20421E-5 41521 0 3.98877E-6
9-135739162-T-C p.Met75Val missense AK8 2 83006 2.40946E-5 41503 0 3.5636E-5
9-135742284-C-T c.219+7G>A splice_region AK8 1 83144 1.20273E-5 41572 0 1.64756E-5
9-135742292-ATTG-A p.Thr72del disruptive_inframe_deletion AK8 5 83178 6.0112E-5 41589 0 3.57878E-5
9-135742294-T-G p.Thr72Thr synonymous AK8 1 83186 1.20213E-5 41593 0 NA
9-135742311-C-T p.Ala67Thr missense AK8 1 83232 1.20146E-5 41616 0 9.55779E-5
9-135742312-G-A p.Pro66Pro synonymous AK8 14 83232 1.68205E-4 41616 0 0.00352467
9-135742312-G-C p.Pro66Pro synonymous AK8 1 83232 1.20146E-5 41616 0 NA
9-135742320-C-T p.Gly64Ser missense AK8 1 83224 1.20158E-5 41612 0 1.64737E-5
9-135749725-A-G n.791+2T>C splice_donor AK8 2 6 0.333333 3 1 NA
9-135750497-C-T c.169+5G>A splice_region AK8 3 82984 3.61515E-5 41492 0 3.18756E-5
9-135750510-T-C p.Asn54Ser missense AK8 1 83106 1.20328E-5 41553 0 9.56511E-5
9-135750514-C-G p.Asp53His missense AK8 4 83122 4.8122E-5 41561 0 7.16099E-5
9-135750520-G-C p.His51Asp missense AK8 1 83146 1.2027E-5 41573 0 NA
9-135750523-A-G p.Leu50Leu synonymous AK8 1 83150 1.20265E-5 41575 0 3.18796E-5
9-135750527-C-G p.Gln48His missense AK8 1 83146 1.2027E-5 41573 0 NA
9-135750530-G-T p.Ile47Ile synonymous AK8 1 83166 1.20241E-5 41583 0 NA
9-135750535-T-C p.Met46Val missense AK8 2 83180 2.40442E-5 41590 0 3.18918E-5
9-135750548-A-C p.Asp41Glu missense AK8 2 83150 2.40529E-5 41575 0 2.48661E-5
9-135750554-G-A p.Pro39Pro synonymous AK8 2 83144 2.40547E-5 41572 0 1.5912E-5
9-135750556-G-A p.Pro39Ser missense AK8 1 83132 1.20291E-5 41566 0 NA
9-135750560-G-A p.His37His synonymous AK8 3 83110 3.60967E-5 41555 0 6.37389E-5
9-135750563-G-C p.Ile36Met missense AK8 1 83112 1.2032E-5 41556 0 8.31255E-6
9-135750564-A-G p.Ile36Thr missense AK8 2 83112 2.40639E-5 41556 0 3.97861E-6
9-135753553-G-T c.84+6C>A splice_region AK8 1 71450 1.39958E-5 35725 0 2.1595E-5
9-135753567-A-C p.Leu26Val missense AK8 5 69602 7.1837E-5 34801 0 6.25E-4
9-135753576-T-C p.Ile23Val missense AK8 1 68302 1.46409E-5 34151 0 NA
9-135753589-C-G p.Gly18Gly synonymous AK8 1 65830 1.51906E-5 32915 0 NA
9-135753591-C-G p.Gly18Arg missense AK8 2 64862 3.08347E-5 32431 0 NA
9-135753603-T-C p.Met14Val missense AK8 2 61516 3.25119E-5 30758 0 NA
9-135753606-C-CG p.Glu13fs frameshift AK8 1 60578 1.65076E-5 30289 0 3.90175E-5
9-135753606-CG-C p.Glu13fs frameshift AK8 1 60578 1.65076E-5 30289 0 2.936E-5
9-135753607-G-T p.Pro12Pro synonymous AK8 3 60646 4.94674E-5 30323 0 6.38121E-5
9-135753608-G-C p.Pro12Arg missense AK8 2 60606 3.3E-5 30303 0 9.74222E-5
9-135753609-G-T p.Pro12Thr missense AK8 1 60334 1.65744E-5 30167 0 3.18959E-5
9-135753609-G-A p.Pro12Ser missense AK8 1 60334 1.65744E-5 30167 0 5.05051E-4
9-135753613-G-A p.Ile10Ile synonymous AK8 1 59030 1.69405E-5 29515 0 1.44275E-5
9-135753622-C-CG p.His8fs frameshift AK8 1 55756 1.79353E-5 27878 0 NA
9-135753623-G-A p.Pro7Leu missense AK8 2 55836 3.58192E-5 27918 0 1.95641E-5
9-135753629-A-G p.Ile5Thr missense AK8 3754 51772 0.0725102 25886 181 0.11609
9-135753633-T-C p.Thr4Ala missense AK8 2 50568 3.95507E-5 25284 0 4.9614E-5
9-135753639-C-T p.Asp2Asn missense AK8 1 48394 2.06637E-5 24197 0 1.00398E-5
9-135753639-C-A p.Asp2Tyr missense AK8 1 48394 2.06637E-5 24197 0 2.00795E-5
9-135753641-A-C p.Met1? start_lost AK8 7 48068 1.45627E-4 24034 0 2.52276E-4
9-135753642-T-C p.Met1? start_lost AK8 1 47946 2.08568E-5 23973 0 8.11227E-5
9-135753642-T-G p.Met1? initiator_codon AK8 1 47946 2.08568E-5 23973 0 1.01403E-5
9-135753642-T-A p.Met1? initiator_codon AK8 3 47946 6.25704E-5 23973 0 5.07017E-5
9-135753644-T-C c.-2A>G 5_prime_UTR_premature_start_codon_gain AK8 2 46982 4.25695E-5 23491 0 NA
9-135753648-C-A c.-6G>T 5_prime_UTR_premature_start_codon_gain AK8 2 45226 4.42223E-5 22613 0 1.05775E-5
9-135753714-C-G c.-72G>C 5_prime_UTR_premature_start_codon_gain AK8 2 31830 6.28338E-5 15915 0 6.38896E-5
9-135753747-G-A c.-105C>T 5_prime_UTR_premature_start_codon_gain AK8 5 28822 1.73479E-4 14411 0 6.38651E-5
9-135753876-G-A c.-234C>T 5_prime_UTR_premature_start_codon_gain AK8 1 27872 3.58783E-5 13936 0 NA
9-135753914-G-A c.-272C>T 5_prime_UTR_premature_start_codon_gain AK8 1 27530 3.6324E-5 13765 0 NA
9-135753949-A-G c.-307T>C 5_prime_UTR_premature_start_codon_gain AK8 46 27454 0.00167553 13727 2 0.00105183
9-135754121-G-C c.-479C>G 5_prime_UTR_premature_start_codon_gain AK8 1 27352 3.65604E-5 13676 0 NA