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TOV-21G - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

2384 mutations reported
695 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
SCAMP2ENSG00000140497ENST00000268099p.C227fs*3c.679delTDeletion - Frameshift
ABCC1ENSG00000103222ENST00000399410p.A1115Tc.3343G>ASubstitution - Missense
RBMXENSG00000147274ENST00000320676p.?c.1delAUnknown
KDM5AENSG00000073614ENST00000399788p.R1157Hc.3470G>ASubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.Q1247Qc.3741G>ASubstitution - coding silent
PLOD3ENSG00000106397ENST00000223127p.R297fs*61c.889delCDeletion - Frameshift
GBP5ENSG00000154451ENST00000370459p.T35Tc.105G>ASubstitution - coding silent
SLC24A2ENSG00000155886ENST00000341998p.A134Vc.401C>TSubstitution - Missense
ENST00000360660p.H29Hc.87C>TSubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.Y551fs*72c.1644_1645insCInsertion - Frameshift
PTENENSG00000171862ENST00000371953p.G143fs*4c.425delGDeletion - Frameshift
STK11ENSG00000118046ENST00000326873p.P281fs*6c.837delCDeletion - Frameshift
HDAC5ENSG00000108840ENST00000393622p.A1010Tc.3028G>ASubstitution - Missense
TXNDC16ENSG00000087301ENST00000281741p.R815Cc.2443C>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.S2511Yc.7532C>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.S2511Yc.7532C>ASubstitution - Missense
SART3ENSG00000075856ENST00000228284p.D955Nc.2863G>ASubstitution - Missense
ITPKBENSG00000143772ENST00000429204p.R165Hc.494G>ASubstitution - Missense
HOOK3ENSG00000168172ENST00000307602p.R271Cc.811C>TSubstitution - Missense
GTPBP1ENSG00000100226ENST00000216044p.R189Qc.566G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000356521p.?c.431-1G>CUnknown
DHX29ENSG00000067248ENST00000251636p.T744Tc.2232A>GSubstitution - coding silent
ANAPC1ENSG00000153107ENST00000341068p.T537Ac.1609A>GSubstitution - Missense
SULT1C4ENSG00000198075ENST00000272452p.E90Kc.268G>ASubstitution - Missense
LACC1ENSG00000179630ENST00000325686p.N99fs*2c.290delADeletion - Frameshift
ANGEL1ENSG00000013523ENST00000251089p.A669Tc.2005G>ASubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.T192fs*40c.568delADeletion - Frameshift
MCCC1ENSG00000078070ENST00000265594p.V439Mc.1315G>ASubstitution - Missense
P4HTMENSG00000178467ENST00000343546p.L416fs*6c.1240delCDeletion - Frameshift
PCDHA2ENSG00000204969ENST00000378132p.R732Hc.2195G>ASubstitution - Missense
ZNF80ENSG00000174255ENST00000308095p.S118Sc.354G>ASubstitution - coding silent
NFASCENSG00000163531ENST00000360049p.P159fs*12c.471delCDeletion - Frameshift
NFASCENSG00000163531ENST00000339876p.P165fs*12c.489delCDeletion - Frameshift
ENTPD7ENSG00000198018ENST00000370489p.I130fs*23c.382delADeletion - Frameshift
KCTD3ENSG00000136636ENST00000259154p.S806fs*>10c.2410delADeletion - Frameshift
ACBD3ENSG00000182827ENST00000366812p.R190fs*43c.568delADeletion - Frameshift
AGTENSG00000135744ENST00000366667p.F430fs*25c.1290delTDeletion - Frameshift
LRRN2ENSG00000170382ENST00000367175p.P431fs*5c.1292delCDeletion - Frameshift
CLCN6ENSG00000011021ENST00000346436p.C430fs*73c.1282delTDeletion - Frameshift
PRDM2ENSG00000116731ENST00000235372p.E278Dc.834A>TSubstitution - Missense
LRIT1ENSG00000148602ENST00000372105p.R602Hc.1805G>ASubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.R574Wc.1720C>TSubstitution - Missense
MVKENSG00000110921ENST00000228510p.A141fs*18c.412delCDeletion - Frameshift
KIAA1549ENSG00000122778ENST00000422774p.L283fs*1c.848delTDeletion - Frameshift
TPCN1ENSG00000186815ENST00000335509p.A801Tc.2401G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.T1104Mc.3311C>TSubstitution - Missense
SNX25ENSG00000109762ENST00000504273p.N638fs*51c.1906delADeletion - Frameshift
SVILENSG00000197321ENST00000355867p.M1863fs*44c.5586delGDeletion - Frameshift
PPP5D1ENSG00000230510ENST00000414155p.V69Mc.205G>ASubstitution - Missense
ZNF93ENSG00000184635ENST00000343769p.L28Lc.82C>TSubstitution - coding silent
BRAT1ENSG00000106009ENST00000340611p.T350Mc.1049C>TSubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.S1967Lc.5900C>TSubstitution - Missense
UTP15ENSG00000164338ENST00000296792p.A409Vc.1226C>TSubstitution - Missense
PCDHB10ENSG00000120324ENST00000239446p.R229Cc.685C>TSubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.H1047Yc.3139C>TSubstitution - Missense
C3orf30ENSG00000163424ENST00000295622p.R366Cc.1096C>TSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.R690Qc.2069G>ASubstitution - Missense
RALGAPBENSG00000170471ENST00000397040p.P381fs*11c.1136delCDeletion - Frameshift
EML4ENSG00000143924ENST00000318522p.E130fs*43c.380delADeletion - Frameshift
CKAP2LENSG00000169607ENST00000302450p.D190Nc.568G>ASubstitution - Missense
CYP2B6ENSG00000197408ENST00000324071p.R35Hc.104G>ASubstitution - Missense
GRIN2DENSG00000105464ENST00000263269p.R478fs*15c.1427delCDeletion - Frameshift
ZNF93ENSG00000184635ENST00000343769p.K171fs*6c.506delADeletion - Frameshift
SMCHD1ENSG00000101596ENST00000320876p.K680fs*3c.2035delADeletion - Frameshift
SMCHD1ENSG00000101596ENST00000261598p.K128fs*3c.379delADeletion - Frameshift
NLRP1ENSG00000091592ENST00000572272p.K583fs*14c.1748delADeletion - Frameshift
NLRP1ENSG00000091592ENST00000572272p.K583fs*14c.1748delADeletion - Frameshift
WNK4ENSG00000126562ENST00000246914p.V608fs*53c.1816delGDeletion - Frameshift
POLR3EENSG00000058600ENST00000299853p.Q626fs*20c.1870delCDeletion - Frameshift
CLEC16AENSG00000038532ENST00000409790p.L611fs*11c.1826delTDeletion - Frameshift
ENST00000338282p.P1933fs*>6c.5798delCDeletion - Frameshift
PRTGENSG00000166450ENST00000389286p.F1056fs*30c.3167delTDeletion - Frameshift
KLHL28ENSG00000179454ENST00000396128p.Y200fs*3c.598delTDeletion - Frameshift
CEP57ENSG00000166037ENST00000325542p.K262fs*31c.778delADeletion - Frameshift
KLC2ENSG00000174996ENST00000394067p.L31fs*15c.89_90delCTDeletion - Frameshift
JAM3ENSG00000166086ENST00000299106p.V294fs*10c.874delGDeletion - Frameshift
NPATENSG00000149308ENST00000278612p.S548fs*11c.1642delADeletion - Frameshift
FZD8ENSG00000177283ENST00000374694p.D518Dc.1554C>TSubstitution - coding silent
SLC18A3ENSG00000187714ENST00000374115p.G68Gc.204C>TSubstitution - coding silent
ZNF365ENSG00000138311ENST00000395254p.K399fs*6c.1189delADeletion - Frameshift
DIAPH3ENSG00000139734ENST00000400324p.C325fs*29c.973_974insTInsertion - Frameshift
TRPV6ENSG00000165125ENST00000359396p.R708Cc.2122C>TSubstitution - Missense
VILLENSG00000136059ENST00000283713p.P714Lc.2141C>TSubstitution - Missense
RBMXENSG00000147274ENST00000431446p.?c.1delAUnknown
SLITRK2ENSG00000185985ENST00000447897p.Q61fs*14c.175delCDeletion - Frameshift
ZFXENSG00000005889ENST00000379188p.M689fs*17c.2059delADeletion - Frameshift
TSPAN7ENSG00000156298ENST00000378482p.S173fs*4c.510delCDeletion - Frameshift
NM_007332.1p.L1057Ic.3169C>ASubstitution - Missense
NBNENSG00000104320ENST00000265433p.R466fs*18c.1396delADeletion - Frameshift
ANGPTL2ENSG00000136859ENST00000373425p.A198Vc.593C>TSubstitution - Missense
PHF20L1ENSG00000129292ENST00000220847p.V509fs*1c.1517delADeletion - Frameshift
ZNF716ENSG00000182111ENST00000420713p.K127fs*6c.375delADeletion - Frameshift
SUN1ENSG00000164828ENST00000389574p.V485Mc.1453G>ASubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.V173fs*7c.517_518delGTDeletion - Frameshift
SYNJ2ENSG00000078269ENST00000355585p.R192Rc.576C>TSubstitution - coding silent
RNF146ENSG00000118518ENST00000356799p.D198Dc.594C>TSubstitution - coding silent
IPO11ENSG00000086200ENST00000325324p.S807fs*22c.2412delTDeletion - Frameshift
DOCK3ENSG00000088538ENST00000266037p.P1852fs*46c.5549_5550delCCDeletion - Frameshift
ATP13A5ENSG00000187527ENST00000342358p.A39Tc.115G>ASubstitution - Missense
TRNT1ENSG00000072756ENST00000251607p.S418fs*11c.1246delADeletion - Frameshift
MTF1ENSG00000188786ENST00000373036p.S152Nc.455G>ASubstitution - Missense
OLFM4ENSG00000102837ENST00000219022p.R372Hc.1115G>ASubstitution - Missense
RCBTB1ENSG00000136144ENST00000378302p.T297Tc.891G>ASubstitution - coding silent
AKAP11ENSG00000023516ENST00000025301p.R1168Qc.3503G>ASubstitution - Missense
FOXO1ENSG00000150907ENST00000379561p.R619Qc.1856G>ASubstitution - Missense
FOXO1ENSG00000150907ENST00000379561p.R619Qc.1856G>ASubstitution - Missense
LINGO1ENSG00000169783ENST00000355300p.G320Vc.959G>TSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.T373Mc.1118C>TSubstitution - Missense
ODF3L1ENSG00000182950ENST00000332145p.A44Tc.130G>ASubstitution - Missense
PMLENSG00000140464ENST00000268058p.R816Wc.2446C>TSubstitution - Missense
TIMELESSENSG00000111602ENST00000553532p.G280fs*8c.839delGDeletion - Frameshift
MYL6ENSG00000092841ENST00000550697p.?c.349_350-2del94Unknown
MYL6ENSG00000092841ENST00000547649p.?c.349_350-2del94Unknown
MYL6ENSG00000092841ENST00000550697p.?c.426_456del336Unknown
ERBB3ENSG00000065361ENST00000267101p.H1304fs*7c.3905delCDeletion - Frameshift
ESYT1ENSG00000139641ENST00000394048p.A630Vc.1889C>TSubstitution - Missense
ENST00000326184p.A76Tc.226G>ASubstitution - Missense
HOXC4ENSG00000198353ENST00000303406p.G241Sc.721G>ASubstitution - Missense
RPS6KC1ENSG00000136643ENST00000366960p.I720Mc.2160A>GSubstitution - Missense
RASSF5ENSG00000136653ENST00000304534p.S141Tc.422G>CSubstitution - Missense
ENST00000338603p.S294Tc.881G>CSubstitution - Missense
SRGAP2ENSG00000163486ENST00000414007p.P200fs*2c.594delCDeletion - Frameshift
INPP5AENSG00000068383ENST00000368594p.V242Ic.724G>ASubstitution - Missense
RNF43ENSG00000108375ENST00000407977p.S661fs*39c.1977delTDeletion - Frameshift
OR6C4ENSG00000179626ENST00000394256p.R120Cc.358C>TSubstitution - Missense
HTR7ENSG00000148680ENST00000336152p.A97Ac.291G>ASubstitution - coding silent
KIF20BENSG00000138182ENST00000416354p.?c.4594-3T>AUnknown
KIF20BENSG00000138182ENST00000416354p.Q1644Rc.4931A>GSubstitution - Missense
GRID1ENSG00000182771ENST00000327946p.V617Ic.1849G>ASubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.F1870fs*>50c.5610delTDeletion - Frameshift
KCNMA1ENSG00000156113ENST00000404857p.H968Hc.2904C>TSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000286627p.H927Hc.2781C>TSubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.S930Nc.2789G>ASubstitution - Missense
SU_OBSCN.1p.?c.5684-8G>AUnknown
CNIH3ENSG00000143786ENST00000272133p.A140Ac.420C>ASubstitution - coding silent
DNAH14ENSG00000185842ENST00000430092p.N448fs*2c.1340_1341insAInsertion - Frameshift
DNAH14ENSG00000185842ENST00000445597p.N467fs*2c.1397_1398insAInsertion - Frameshift
SUSD4ENSG00000143502ENST00000343846p.R354fs*16c.1059delCDeletion - Frameshift
DISP1ENSG00000154309ENST00000284476p.V736Vc.2208A>GSubstitution - coding silent
HSPG2ENSG00000142798ENST00000374695p.E3795Kc.11383G>ASubstitution - Missense
SYT15ENSG00000204176ENST00000374321p.S199Sc.597C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.S199Sc.597C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.S251Sc.753C>TSubstitution - coding silent
FAM21CENSG00000172661ENST00000374362p.K892Kc.2676G>ASubstitution - coding silent
CUL2ENSG00000108094ENST00000374751p.R56Ic.167G>TSubstitution - Missense
ARHGAP12ENSG00000165322ENST00000344936p.N657Sc.1970A>GSubstitution - Missense
PFKPENSG00000067057ENST00000381125p.S84Nc.251G>ASubstitution - Missense
KIAA1462ENSG00000165757ENST00000375377p.V341Ac.1022T>CSubstitution - Missense
UBE4BENSG00000130939ENST00000343090p.?c.1329_1338+23>31Unknown
SLITRK1ENSG00000178235ENST00000377084p.G465fs*9c.1394delGDeletion - Frameshift
CUX2ENSG00000111249ENST00000261726p.S120fs*39c.352delCDeletion - Frameshift
TAS2R14ENSG00000212127ENST00000537503p.H310Yc.928C>TSubstitution - Missense
ENST00000381852p.H169Yc.505C>TSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.P445Pc.1335G>ASubstitution - coding silent
C11orf49ENSG00000149179ENST00000378615p.H73fs*24c.212delCDeletion - Frameshift
C11orf49ENSG00000149179ENST00000378618p.H73fs*24c.212delCDeletion - Frameshift
DGKZENSG00000149091ENST00000343674p.V855Vc.2565G>TSubstitution - coding silent
DGKZENSG00000149091ENST00000395574p.V805Vc.2415G>TSubstitution - coding silent
PEX16ENSG00000121680ENST00000241041p.P228Sc.682C>TSubstitution - Missense
CHST1ENSG00000175264ENST00000308064p.V283Mc.847G>ASubstitution - Missense
EXT2ENSG00000151348ENST00000533608p.I715Vc.2143A>GSubstitution - Missense
STIM1ENSG00000167323ENST00000300737p.V563fs*24c.1683delGDeletion - Frameshift
ARHGAP32ENSG00000134909ENST00000310343p.R1601Wc.4801C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.K4317Tc.12950A>CSubstitution - Missense
ENST00000349637p.R2907Gc.8719C>GSubstitution - Missense
ENST00000349637p.T2605Mc.7814C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.R2928Gc.8782C>GSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T2626Mc.7877C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.A1964Tc.5890G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.R1969Ic.5906G>TSubstitution - Missense
ENST00000349637p.A2020Vc.6059C>TSubstitution - Missense
SLC37A2ENSG00000134955ENST00000403796p.A406Tc.1216G>ASubstitution - Missense
SFRP5ENSG00000120057ENST00000266066p.P61Sc.181C>TSubstitution - Missense
SFRP5ENSG00000120057ENST00000266066p.P61Sc.181C>TSubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.R605Qc.1814G>ASubstitution - Missense
DNTTENSG00000107447ENST00000371174p.G270Dc.809G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.Y1401Cc.4202A>GSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.T1412Mc.4235C>TSubstitution - Missense
URB2ENSG00000135763ENST00000258243p.A176Ac.528C>TSubstitution - coding silent
SU_OBSCN.1p.Q5829Qc.17487G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.Q5247Qc.15741G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.S4487Cc.13460C>GSubstitution - Missense
SU_OBSCN.1p.S4357Cc.13070C>GSubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.A792Sc.2374G>TSubstitution - Missense
OSBPL8ENSG00000091039ENST00000261183p.N184fs*5c.551delADeletion - Frameshift
IFFO1ENSG00000010295ENST00000336604p.A41Vc.122C>TSubstitution - Missense
CD27ENSG00000139193ENST00000266557p.V93Ac.278T>CSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.A1416Tc.4246G>ASubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.R220Wc.658C>TSubstitution - Missense
INSRRENSG00000027644ENST00000368195p.R1044Cc.3130C>TSubstitution - Missense
ISG20L2ENSG00000143319ENST00000368219p.L289fs*6c.857_858insCInsertion - Frameshift
BCANENSG00000132692ENST00000329117p.A369Tc.1105G>ASubstitution - Missense
OR5P2ENSG00000183303ENST00000329434p.I41Vc.121A>GSubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.?c.735+6C>TUnknown
C2CD3ENSG00000168014ENST00000313663p.K570Tc.1709A>CSubstitution - Missense
ATG16L2ENSG00000168010ENST00000321297p.R327Qc.980G>ASubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.?c.1852-3_1852-2insCUnknown
FANCIENSG00000140525ENST00000310775p.G748Gc.2244A>GSubstitution - coding silent
ENST00000268134p.V848fs*97c.2536delCDeletion - Frameshift
ACANENSG00000157766ENST00000439576p.V848fs*97c.2536delCDeletion - Frameshift
IL16ENSG00000172349ENST00000302987p.?c.791-1G>AUnknown
ADAMTS7ENSG00000136378ENST00000388820p.A1027Tc.3079G>ASubstitution - Missense
KRT7ENSG00000135480ENST00000331817p.?c.858+3G>AUnknown
KRT80ENSG00000167767ENST00000394815p.?c.667-5G>AUnknown
FAIM2ENSG00000135472ENST00000320634p.L308Lc.922C>TSubstitution - coding silent
MCRS1ENSG00000187778ENST00000357123p.A151Vc.452C>TSubstitution - Missense
C1QL4ENSG00000186897ENST00000334221p.N177Nc.531C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.K4432fs*52c.13296_13303delGAGGGAGGDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.K4162fs*52c.12486_12493delGAGGGAGGDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.T5067Mc.15200C>TSubstitution - Missense
DDNENSG00000181418ENST00000421952p.P140fs*70c.419delCDeletion - Frameshift
WNT5BENSG00000111186ENST00000397196p.C231Cc.693C>TSubstitution - coding silent
ZFHX2ENSG00000136367ENST00000419474p.M588Vc.1762A>GSubstitution - Missense
HOMEZENSG00000215271ENST00000357460p.H19Rc.56A>GSubstitution - Missense
C14orf93ENSG00000100802ENST00000397379p.A23Ac.69C>ASubstitution - coding silent
RPGRIP1ENSG00000092200ENST00000400017p.H512Hc.1536C>TSubstitution - coding silent
OR11G2ENSG00000196832ENST00000357366p.M78Vc.232A>GSubstitution - Missense
KIF26AENSG00000066735ENST00000423312p.R614Gc.1840C>GSubstitution - Missense
BAG5ENSG00000166170ENST00000299204p.Q432Rc.1295A>GSubstitution - Missense
PAOXENSG00000148832ENST00000278060p.L304fs*12c.907delCDeletion - Frameshift
PAOXENSG00000148832ENST00000357296p.L304fs*12c.907delCDeletion - Frameshift
TTC40ENSG00000171811ENST00000368586p.V640Vc.1920C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368582p.V640Vc.1920C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.G1097*c.3289G>TSubstitution - Nonsense
TTC40ENSG00000171811ENST00000368582p.G1097*c.3289G>TSubstitution - Nonsense
ADAM12ENSG00000148848ENST00000368676p.G127Gc.381A>GSubstitution - coding silent
EDRF1ENSG00000107938ENST00000337623p.V800Lc.2398G>CSubstitution - Missense
MMP21ENSG00000154485ENST00000368808p.S508Sc.1524C>TSubstitution - coding silent
C10orf88ENSG00000119965ENST00000481909p.H165Hc.495C>TSubstitution - coding silent
NARS2ENSG00000137513ENST00000281038p.P441Pc.1323A>GSubstitution - coding silent
GFRA1ENSG00000151892ENST00000439649p.Q268Qc.804G>ASubstitution - coding silent
GFRA1ENSG00000151892ENST00000369236p.Q263Qc.789G>ASubstitution - coding silent
ADRA2AENSG00000150594ENST00000280155p.A63Ac.189G>ASubstitution - coding silent
AHCTF1ENSG00000153207ENST00000391829p.P1325Pc.3975G>ASubstitution - coding silent
HNRNPUENSG00000153187ENST00000283179p.L665Lc.1995C>ASubstitution - coding silent
HNRNPUENSG00000153187ENST00000444376p.L646Lc.1938C>ASubstitution - coding silent
MYOM3ENSG00000142661ENST00000374434p.D898Ec.2694C>ASubstitution - Missense
CHRM3ENSG00000133019ENST00000255380p.S163Gc.487A>GSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.F3835Lc.11503T>CSubstitution - Missense
PCCAENSG00000175198ENST00000376285p.L526Fc.1578G>TSubstitution - Missense
HALENSG00000084110ENST00000261208p.L570fs*1c.1708delCDeletion - Frameshift
PPFIA1ENSG00000131626ENST00000253925p.C901Cc.2703C>TSubstitution - coding silent
OR10A4ENSG00000170782ENST00000379829p.G171Gc.513C>ASubstitution - coding silent
RBM14ENSG00000239306ENST00000310137p.P304Lc.911C>TSubstitution - Missense
NPAS4ENSG00000174576ENST00000311034p.Q134Rc.401A>GSubstitution - Missense
STX5ENSG00000162236ENST00000294179p.Y265Yc.795C>TSubstitution - coding silent
TUT1ENSG00000149016ENST00000308436p.R425Rc.1275G>ASubstitution - coding silent
TUT1ENSG00000149016ENST00000278279p.R387Rc.1161G>ASubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.G5477Rc.16429G>ASubstitution - Missense
MS4A5ENSG00000166930ENST00000300190p.I49Ic.147C>TSubstitution - coding silent
OR10W1ENSG00000172772ENST00000395079p.P9Lc.26C>TSubstitution - Missense
LNX2ENSG00000139517ENST00000316334p.L106Lc.318C>GSubstitution - coding silent
COL2A1ENSG00000139219ENST00000380518p.?c.816+7G>AUnknown
KDM5AENSG00000073614ENST00000399788p.D759fs*2c.2274delADeletion - Frameshift
NM_005056.1p.D759fs*2c.2274delADeletion - Frameshift
ADAMTS20ENSG00000173157ENST00000389420p.G1855*c.5563G>TSubstitution - Nonsense
MAML2ENSG00000184384ENST00000524717p.P30Lc.89C>TSubstitution - Missense
MAML2ENSG00000184384ENST00000524717p.S622_Q629delSSISAQQQc.1863_1893>ACAGCAADeletion - In frame
SORCS1ENSG00000108018ENST00000263054p.?c.885+6C>TUnknown
C10orf76ENSG00000120029ENST00000370033p.V98Ic.292G>ASubstitution - Missense
C10orf76ENSG00000120029ENST00000311122p.V98Ic.292G>ASubstitution - Missense
KAZALD1ENSG00000107821ENST00000370200p.R244Hc.731G>ASubstitution - Missense
PAX2ENSG00000075891ENST00000361791p.A359Vc.1076C>TSubstitution - Missense
ADARB2ENSG00000185736ENST00000381312p.F637fs*3c.1908delCDeletion - Frameshift
CACUL1ENSG00000151893ENST00000369151p.E254Ec.762A>GSubstitution - coding silent
CACUL1ENSG00000151893ENST00000369151p.Q56fs*32c.165delGDeletion - Frameshift
ARHGEF10LENSG00000074964ENST00000361221p.H142Hc.426T>CSubstitution - coding silent
IGSF22ENSG00000179057ENST00000513874p.M164fs*7c.490delADeletion - Frameshift
LDHAL6AENSG00000166800ENST00000280706p.V114Ic.340G>ASubstitution - Missense
PSMA1ENSG00000129084ENST00000418988p.T176Tc.528T>GSubstitution - coding silent
EPHA2ENSG00000142627ENST00000358432p.A785Tc.2353G>ASubstitution - Missense
NDUFS2ENSG00000158864ENST00000367993p.R162Qc.485G>ASubstitution - Missense
NCSTNENSG00000162736ENST00000294785p.?c.582+9A>GUnknown
OTUD7AENSG00000169918ENST00000307050p.?c.780+3T>CUnknown
TRPM1ENSG00000134160ENST00000397795p.R744Qc.2231G>ASubstitution - Missense
NM_004667.3p.S1751Nc.5252G>ASubstitution - Missense
GOLGA8IENSG00000153666ENST00000450802p.G501fs*79c.1498delGDeletion - Frameshift
COL8A2ENSG00000171812ENST00000397799p.G223fs*14c.668delGDeletion - Frameshift
MEGF6ENSG00000162591ENST00000356575p.?c.977-1G>TUnknown
CSMD2ENSG00000121904ENST00000373381p.?c.6711-1G>TUnknown
KIAA1522ENSG00000162522ENST00000401073p.A280Ac.840G>ASubstitution - coding silent
KIAA1522ENSG00000162522ENST00000373480p.A221Ac.663G>ASubstitution - coding silent
RSBN1ENSG00000081019ENST00000261441p.T748Ac.2242A>GSubstitution - Missense
CSF1ENSG00000184371ENST00000369802p.R523Wc.1567C>TSubstitution - Missense
FAM102BENSG00000162636ENST00000370035p.?c.360-2A>TUnknown
TRIM44ENSG00000166326ENST00000299413p.M1Vc.1A>GSubstitution - Missense
C11orf88ENSG00000183644ENST00000332814p.E97Dc.291A>CSubstitution - Missense
NM_207430.1p.E97Dc.291A>CSubstitution - Missense
LAYNENSG00000204381ENST00000375614p.Q114Hc.342G>TSubstitution - Missense
PDGFDENSG00000170962ENST00000393158p.I214fs*68c.640delADeletion - Frameshift
PDGFDENSG00000170962ENST00000393158p.I214fs*68c.640delADeletion - Frameshift
PDGFDENSG00000170962ENST00000393158p.A178Gc.533C>GSubstitution - Missense
PDGFDENSG00000170962ENST00000393158p.A178Gc.533C>GSubstitution - Missense
NLRX1ENSG00000160703ENST00000292199p.R833Hc.2498G>ASubstitution - Missense
CCDC153ENSG00000248712ENST00000503566p.P200fs*4c.599delCDeletion - Frameshift
C2CD2LENSG00000172375ENST00000336702p.?c.1626+7G>TUnknown
NM_182557.1p.P1119Sc.3355C>TSubstitution - Missense
IL10RAENSG00000110324ENST00000227752p.G472Gc.1416C>TSubstitution - coding silent
ZW10ENSG00000086827ENST00000200135p.L145Lc.435G>ASubstitution - coding silent
BCO2ENSG00000197580ENST00000357685p.A43fs*36c.126_127insAInsertion - Frameshift
CD163L1ENSG00000177675ENST00000313599p.A1195Tc.3583G>ASubstitution - Missense
RAP1BENSG00000127314ENST00000250559p.Q182Pc.545A>CSubstitution - Missense
ING4ENSG00000111653ENST00000341550p.N193Sc.578A>GSubstitution - Missense
COLGALT2ENSG00000198756ENST00000361927p.R600Hc.1799G>ASubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.S367Lc.1100C>TSubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.V414Mc.1240G>ASubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.V414Mc.1240G>ASubstitution - Missense
UCN3ENSG00000178473ENST00000380433p.G16Gc.48G>TSubstitution - coding silent
ENST00000426033p.L2794Pc.8381T>CSubstitution - Missense
CIITAENSG00000179583ENST00000324288p.?c.481+3delgUnknown
CCDC176ENSG00000119636ENST00000394009p.E47Ec.141A>GSubstitution - coding silent
ELMSAN1ENSG00000156030ENST00000286523p.P67Hc.200C>ASubstitution - Missense
MASTLENSG00000120539ENST00000375946p.D515Dc.1545T>CSubstitution - coding silent
MYO3AENSG00000095777ENST00000265944p.?c.4438+4A>GUnknown
NTHL1ENSG00000065057ENST00000219066p.A194Tc.580G>ASubstitution - Missense
C16orf62ENSG00000103544ENST00000438132p.P437Pc.1311A>GSubstitution - coding silent
C16orf62ENSG00000103544ENST00000251143p.P348Pc.1044A>GSubstitution - coding silent
PTPRCENSG00000081237ENST00000442510p.A633Vc.1898C>TSubstitution - Missense
PRKCZENSG00000067606ENST00000378567p.?c.334+5G>AUnknown
F13BENSG00000143278ENST00000367412p.V456Vc.1368T>CSubstitution - coding silent
PLA2G4AENSG00000116711ENST00000367466p.?c.115+2T>CUnknown
SLFNL1ENSG00000171790ENST00000359345p.R73Qc.218G>ASubstitution - Missense
PABPC4ENSG00000090621ENST00000372858p.N2Sc.5A>GSubstitution - Missense
PABPC4ENSG00000090621ENST00000372857p.N2Sc.5A>GSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.T3790fs*15c.11368_11369insAInsertion - Frameshift
KIAA0754ENSG00000255103ENST00000530275p.S174Nc.521G>ASubstitution - Missense
ENST00000530275_v68p.S174Nc.521G>ASubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.S2112Sc.6336T>CSubstitution - coding silent
PPP2R5BENSG00000068971ENST00000164133p.R33Hc.98G>ASubstitution - Missense
MEN1ENSG00000133895ENST00000312049p.W265*c.795G>ASubstitution - Nonsense
SF1ENSG00000168066ENST00000334944p.P498Pc.1494C>TSubstitution - coding silent
PLCB3ENSG00000149782ENST00000279230p.?c.1338+4C>TUnknown
RCOR2ENSG00000167771ENST00000301459p.?c.676-6T>CUnknown
LGALS12ENSG00000133317ENST00000394618p.G297Rc.889G>ASubstitution - Missense
SAR1AENSG00000079332ENST00000373241p.M44Ic.132G>ASubstitution - Missense
HK1ENSG00000156515ENST00000404387p.D734Dc.2202C>TSubstitution - coding silent
HK1ENSG00000156515ENST00000298649p.D729Dc.2187C>TSubstitution - coding silent
HERC4ENSG00000148634ENST00000395198p.?c.2361+7T>CUnknown
ARID5BENSG00000150347ENST00000279873p.G1064fs*43c.3187delGDeletion - Frameshift
C1orf185ENSG00000204006ENST00000371759p.L187Sc.560T>CSubstitution - Missense
AGBL4ENSG00000186094ENST00000371839p.P295Pc.885C>ASubstitution - coding silent
AGBL4ENSG00000186094ENST00000371838p.P295Pc.885C>ASubstitution - coding silent
AJAP1ENSG00000196581ENST00000378190p.A349Tc.1045G>ASubstitution - Missense
MOB3CENSG00000142961ENST00000371940p.Y8Hc.22T>CSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.G1104Gc.3312A>GSubstitution - coding silent
SEMA6DENSG00000137872ENST00000558014p.R254Rc.762C>TSubstitution - coding silent
EIF3JENSG00000104131ENST00000261868p.A8_G9insAAAc.25_26insCGGCGGCGGInsertion - In frame
CCNDBP1ENSG00000166946ENST00000300213p.V155Vc.465C>ASubstitution - coding silent
PI4KBENSG00000143393ENST00000368875p.D734Gc.2201A>GSubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.S619Nc.1856G>ASubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.S619Nc.1856G>ASubstitution - Missense
ENST00000369176p.R41Hc.122G>ASubstitution - Missense
TAS1R3ENSG00000169962ENST00000339381p.P188Hc.563C>ASubstitution - Missense
PHGDHENSG00000092621ENST00000369409p.A56Tc.166G>ASubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.R682Cc.2044C>TSubstitution - Missense
NM_032590.2p.K433Kc.1299G>ASubstitution - coding silent
CITENSG00000122966ENST00000392521p.V229Ic.685G>ASubstitution - Missense
CITENSG00000122966ENST00000261833p.V229Ic.685G>ASubstitution - Missense
SU_CRIKp.V230Ic.688G>ASubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.I511Tc.1532T>CSubstitution - Missense
LCE3EENSG00000185966ENST00000368789p.R64Qc.191G>ASubstitution - Missense
FGD4ENSG00000139132ENST00000427716p.Q686Hc.2058G>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.Q1573Rc.4718A>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.Q1603Rc.4808A>GSubstitution - Missense
ENST00000322367p.Q1060Rc.3179A>GSubstitution - Missense
TM7SF3ENSG00000064115ENST00000343028p.C414Cc.1242C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000347598p.H322Hc.966C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.H322Hc.966C>TSubstitution - coding silent
ENST00000398121p.K392fs*38c.1172_1173delAGDeletion - Frameshift
ADAMTS17ENSG00000140470ENST00000268070p.W549Cc.1647G>TSubstitution - Missense
FRMD6ENSG00000139926ENST00000395718p.R372Cc.1114C>TSubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.M669Vc.2005A>GSubstitution - Missense
PRKAA2ENSG00000162409ENST00000371244p.A493Vc.1478C>TSubstitution - Missense
ECHDC2ENSG00000121310ENST00000371522p.V109fs*12c.325_326insGInsertion - Frameshift
SCP2ENSG00000116171ENST00000371514p.H355Yc.1063C>TSubstitution - Missense
PODNENSG00000174348ENST00000312553p.L164Fc.490C>TSubstitution - Missense
FAM72DENSG00000215784ENST00000400889p.S7Nc.20G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.T1457Mc.4370C>TSubstitution - Missense
SFSWAPENSG00000061936ENST00000261674p.D607Ec.1821T>ASubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.A847Tc.2539G>ASubstitution - Missense
NM_006312.2p.A847Tc.2539G>ASubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.Q342Lc.1025A>TSubstitution - Missense
DLG2ENSG00000150672ENST00000376104p.M649Ic.1947G>ASubstitution - Missense
DLG2ENSG00000150672ENST00000280241p.M583Ic.1749G>ASubstitution - Missense
RORAENSG00000069667ENST00000261523p.K441fs*7c.1321_1324delAAGADeletion - Frameshift
USP8ENSG00000138592ENST00000307179p.R76fs*36c.220delADeletion - Frameshift
USP8ENSG00000138592ENST00000307179p.R807*c.2419C>TSubstitution - Nonsense
NFASCENSG00000163531ENST00000403080p.R56fs*5c.162delCDeletion - Frameshift
NFASCENSG00000163531ENST00000360049p.R447Lc.1340G>TSubstitution - Missense
NFASCENSG00000163531ENST00000403080p.R436Lc.1307G>TSubstitution - Missense
SOX13ENSG00000143842ENST00000367204p.S602Sc.1806C>TSubstitution - coding silent
ITPK1ENSG00000100605ENST00000267615p.A87Tc.259G>ASubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.I88Ic.264C>TSubstitution - coding silent
PPP1R36ENSG00000165807ENST00000298705p.L200Lc.598T>CSubstitution - coding silent
FAM73AENSG00000180488ENST00000370791p.L441fs*1c.1317delTDeletion - Frameshift
CAMTA1ENSG00000171735ENST00000303635p.S787fs*39c.2357_2358insGInsertion - Frameshift
SLC44A5ENSG00000137968ENST00000370859p.V393Ic.1177G>ASubstitution - Missense
ENST00000294635_v70p.P535Sc.1603C>TSubstitution - Missense
SMPDL3BENSG00000130768ENST00000373894p.I154Rc.461T>GSubstitution - Missense
AIM1LENSG00000176092ENST00000308182p.M539Tc.1616T>CSubstitution - Missense
AIM1LENSG00000176092ENST00000527815p.M710Tc.2129T>CSubstitution - Missense
MMEL1ENSG00000142606ENST00000288709p.D655Dc.1965C>TSubstitution - coding silent
OR2T11ENSG00000183130ENST00000330803p.V271Vc.813G>ASubstitution - coding silent
GREM1ENSG00000166923ENST00000300177p.C122Cc.366C>TSubstitution - coding silent
ENST00000414268p.P929Pc.2787A>GSubstitution - coding silent
SPATA13ENSG00000182957ENST00000382108p.P166Lc.497C>TSubstitution - Missense
RASA3ENSG00000185989ENST00000334062p.G174Gc.522A>GSubstitution - coding silent
UPF3AENSG00000169062ENST00000375299p.S329Sc.987G>ASubstitution - coding silent
TMCO3ENSG00000150403ENST00000434316p.L510Sc.1529T>CSubstitution - Missense
ATP11AENSG00000068650ENST00000375645p.?c.252+8C>TUnknown
ATP11AENSG00000068650ENST00000375630p.?c.252+8C>TUnknown
ING1ENSG00000153487ENST00000333219p.D227Nc.679G>ASubstitution - Missense
IRS2ENSG00000185950ENST00000375856p.P529fs*15c.1586delCDeletion - Frameshift
SLC25A47ENSG00000140107ENST00000361529p.L245Mc.733C>ASubstitution - Missense
DEGS2ENSG00000168350ENST00000305631p.P269Pc.807G>ASubstitution - coding silent
DPYDENSG00000188641ENST00000370192p.F707fs*4c.2121delTDeletion - Frameshift
TMEM201ENSG00000188807ENST00000340305p.R180Cc.538C>TSubstitution - Missense
C1orf200ENSG00000179840ENST00000377320p.R83Hc.248G>ASubstitution - Missense
H6PDENSG00000049239ENST00000377403p.G592Dc.1775G>ASubstitution - Missense
CORO2BENSG00000103647ENST00000566799p.V40Vc.120G>ASubstitution - coding silent
PARP16ENSG00000138617ENST00000261888p.P133Sc.397C>TSubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.R926Cc.2776C>TSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.T668Tc.2004G>ASubstitution - coding silent
DICER1ENSG00000100697ENST00000343455p.K371Rc.1112A>GSubstitution - Missense
ASB2ENSG00000100628ENST00000315988p.?c.736+9C>AUnknown
UNC79ENSG00000133958ENST00000553484p.L2289Lc.6867G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.T869Sc.2605A>TSubstitution - Missense
NM_003319p.T823Sc.2467A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.E4977Dc.14931A>CSubstitution - Missense
ENST00000356127p.E4977Dc.14931A>CSubstitution - Missense
INSM1ENSG00000173404ENST00000310227p.R507Hc.1520G>ASubstitution - Missense
POLR3FENSG00000132664ENST00000377603p.M203Tc.608T>CSubstitution - Missense
SEC23BENSG00000101310ENST00000377465p.R217Qc.650G>ASubstitution - Missense
C20orf78ENSG00000149443ENST00000278779p.G10Gc.30A>GSubstitution - coding silent
ZNF846ENSG00000196605ENST00000397902p.E391Gc.1172A>GSubstitution - Missense
OLFM2ENSG00000105088ENST00000264833p.E80Kc.238G>ASubstitution - Missense
OR7D4ENSG00000174667ENST00000308682p.L104fs*1c.311delTDeletion - Frameshift
SPATA20ENSG00000006282ENST00000006658p.C687Cc.2061C>TSubstitution - coding silent
TTLL6ENSG00000170703ENST00000433608p.C135Yc.404G>ASubstitution - Missense
TTLL6ENSG00000170703ENST00000393382p.C394Yc.1181G>ASubstitution - Missense
MBTPS1ENSG00000140943ENST00000343411p.R632Cc.1894C>TSubstitution - Missense
RBFOX1ENSG00000078328ENST00000311745p.A116Ac.348A>GSubstitution - coding silent
RBFOX1ENSG00000078328ENST00000355637p.A116Ac.348A>GSubstitution - coding silent
C6ENSG00000039537ENST00000263413p.S277fs*43c.828delGDeletion - Frameshift
ENST00000318301p.G572Gc.1716A>GSubstitution - coding silent
TYRO3ENSG00000092445ENST00000263798p.N230Hc.688A>CSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.E1795_D1796insEc.5387_5388insAGAInsertion - In frame
FAM127AENSG00000134590ENST00000257013p.S88Sc.264C>TSubstitution - coding silent
PRPS2ENSG00000101911ENST00000380668p.V271Ic.811G>ASubstitution - Missense
CPA6ENSG00000165078ENST00000297770p.L408fs*18c.1223delTDeletion - Frameshift
ENST00000409172p.T88Pc.262A>CSubstitution - Missense
NSMAFENSG00000035681ENST00000427130p.R671Hc.2012G>ASubstitution - Missense
SOX17ENSG00000164736ENST00000297316p.Q127Rc.380A>GSubstitution - Missense
PIKFYVEENSG00000115020ENST00000264380p.R1401Hc.4202G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000264377p.R391Qc.1172G>ASubstitution - Missense
NRP2ENSG00000118257ENST00000360409p.S118Sc.354C>TSubstitution - coding silent
NRP2ENSG00000118257ENST00000272849p.S118Sc.354C>TSubstitution - coding silent
NRP2ENSG00000118257ENST00000360409p.R263Cc.787C>TSubstitution - Missense
MYO1BENSG00000128641ENST00000392318p.L312Lc.934T>CSubstitution - coding silent
ASNSD1ENSG00000138381ENST00000260952p.E13Dc.39G>TSubstitution - Missense
CELF5ENSG00000161082ENST00000292672p.G175Dc.524G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.K3040Kc.9120G>ASubstitution - coding silent
ENSG00000178404ENST00000322630p.A53Tc.157G>ASubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.V248Ac.743T>CSubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.V248Ac.743T>CSubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.K975fs*12c.2921delADeletion - Frameshift
FBXW10ENSG00000171931ENST00000395667p.V519Lc.1555G>TSubstitution - Missense
SMCR8ENSG00000176994ENST00000406438p.T816Pc.2446A>CSubstitution - Missense
LLGL1ENSG00000131899ENST00000316843p.S867Nc.2600G>ASubstitution - Missense
ATPAF2ENSG00000171953ENST00000474627p.P42Pc.126G>ASubstitution - coding silent
WDR81ENSG00000167716ENST00000437219p.T702Tc.2106G>ASubstitution - coding silent
ENSG00000181464ENST00000312127p.M1Ic.3G>ASubstitution - Missense
RAB40ALENSG00000102128ENST00000218249p.G48Gc.144A>GSubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.G43Ec.128G>ASubstitution - Missense
FBP2ENSG00000130957ENST00000375337p.F137Vc.409T>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.K10763Nc.32289G>CSubstitution - Missense
ENST00000331986p.K6396Nc.19188G>CSubstitution - Missense
ENST00000331986p.T7599Sc.22796C>GSubstitution - Missense
KLHDC10ENSG00000128607ENST00000335420p.R61*c.181C>TSubstitution - Nonsense
TNPO3ENSG00000064419ENST00000393245p.Y882fs*25c.2643delCDeletion - Frameshift
METTL2BENSG00000165055ENST00000262432p.G306fs*10c.910delADeletion - Frameshift
MTG2ENSG00000101181ENST00000370823p.R48Cc.142C>TSubstitution - Missense
PHACTR3ENSG00000087495ENST00000371015p.?c.281-4G>AUnknown
ENST00000334187_v71p.L116fs*20c.347delTDeletion - Frameshift
CTCFLENSG00000124092ENST00000243914p.C460Yc.1379G>ASubstitution - Missense
CASS4ENSG00000087589ENST00000360314p.K450Nc.1350G>TSubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.L392Vc.1174T>GSubstitution - Missense
SLC9A8ENSG00000197818ENST00000361573p.P36Qc.107C>ASubstitution - Missense
DDX27ENSG00000124228ENST00000371764p.K691Rc.2072A>GSubstitution - Missense
STAU1ENSG00000124214ENST00000371856p.A244Vc.731C>TSubstitution - Missense
RALGAPBENSG00000170471ENST00000397040p.K1469Tc.4406A>CSubstitution - Missense
RBL1ENSG00000080839ENST00000373664p.S688Sc.2064C>TSubstitution - coding silent
EPB41L1ENSG00000088367ENST00000338074p.R645Wc.1933C>TSubstitution - Missense
ENST00000344237p.R934Wc.2800C>TSubstitution - Missense
GDF5ENSG00000125965ENST00000374369p.T201Tc.603C>ASubstitution - coding silent
MYH7BENSG00000078814ENST00000262873p.?c.4667-4G>AUnknown
GGT7ENSG00000131067ENST00000336431p.R89Cc.265C>TSubstitution - Missense
KLK10ENSG00000129451ENST00000391805p.G230Gc.690A>GSubstitution - coding silent
EMC10ENSG00000161671ENST00000334976p.A134Vc.401C>TSubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.R721Hc.2162G>ASubstitution - Missense
SIGLEC11ENSG00000161640ENST00000447370p.S137Nc.410G>ASubstitution - Missense
TBC1D17ENSG00000104946ENST00000221543p.P219Pc.657C>ASubstitution - coding silent
CD37ENSG00000104894ENST00000323906p.L74Lc.222G>ASubstitution - coding silent
EBF2ENSG00000221818ENST00000520164p.G550fs*>27c.1645_1646insAInsertion - Frameshift
EBF2ENSG00000221818ENST00000520164p.G550fs*>27c.1645_1646insAInsertion - Frameshift
LOXL2ENSG00000134013ENST00000389131p.E633Dc.1899G>TSubstitution - Missense
DMTNENSG00000158856ENST00000265800p.R236Cc.706C>TSubstitution - Missense
ACOX2ENSG00000168306ENST00000302819p.?c.1850+9C>TUnknown
ACOX2ENSG00000168306ENST00000302819p.R323Cc.967C>TSubstitution - Missense
APPL1ENSG00000157500ENST00000288266p.Y181fs*30c.540_544delTTATTDeletion - Frameshift
TKTENSG00000163931ENST00000462138p.R57Cc.169C>TSubstitution - Missense
ITIH1ENSG00000055957ENST00000273283p.G829Rc.2485G>ASubstitution - Missense
TMEM2ENSG00000135048ENST00000377044p.P1363Lc.4088C>TSubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.?c.3996+4A>GUnknown
TRPM3ENSG00000083067ENST00000377105p.R1121Cc.3361C>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.R1266Cc.3796C>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000377105p.R1225Qc.3674G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.R1370Qc.4109G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377110p.R1262Cc.3784C>TSubstitution - Missense
PRKACGENSG00000165059ENST00000377276p.R94Cc.280C>TSubstitution - Missense
ERMP1ENSG00000099219ENST00000339450p.G260Gc.780T>CSubstitution - coding silent
CNTNAP3ENSG00000106714ENST00000297668p.R909Hc.2726G>ASubstitution - Missense
RECKENSG00000122707ENST00000377966p.N685fs*16c.2054_2055insAInsertion - Frameshift
IL11RAENSG00000137070ENST00000555003p.R257Cc.769C>TSubstitution - Missense
CCL19ENSG00000172724ENST00000378800p.A59Vc.176C>TSubstitution - Missense
SLC35B4ENSG00000205060ENST00000378509p.?c.426+8G>AUnknown
AKR1B10ENSG00000198074ENST00000359579p.P14Sc.40C>TSubstitution - Missense
MESTENSG00000106484ENST00000223215p.K192Nc.576G>TSubstitution - Missense
B3GNTL1ENSG00000175711ENST00000320865p.E211Kc.631G>ASubstitution - Missense
FSCN2ENSG00000186765ENST00000334850p.R421Sc.1261C>ASubstitution - Missense
FSCN2ENSG00000186765ENST00000334850p.R421Sc.1261C>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.E1842Dc.5526G>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.E1842Dc.5526G>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.T1836Mc.5507C>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.T1836Mc.5507C>TSubstitution - Missense
ENST00000005905p.R410fs*56c.1228delADeletion - Frameshift
KSR1ENSG00000141068ENST00000319524p.R402Wc.1204C>TSubstitution - Missense
SU_KSR1p.R402Wc.1204C>TSubstitution - Missense
NM_024086.2p.R388Cc.1162C>TSubstitution - Missense
SDC2ENSG00000169439ENST00000302190p.G42*c.124G>TSubstitution - Nonsense
TMEM67ENSG00000164953ENST00000453321p.E909Kc.2725G>ASubstitution - Missense
WWP1ENSG00000123124ENST00000517970p.A449Tc.1345G>ASubstitution - Missense
TMPRSS11BENSG00000185873ENST00000332644p.A195fs*20c.583delGDeletion - Frameshift
SETD5ENSG00000168137ENST00000402198p.S1323Gc.3967A>GSubstitution - Missense
SETD5ENSG00000168137ENST00000402198p.R1387Qc.4160G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.A438Tc.1312G>ASubstitution - Missense
ENST00000505256p.K1914delKc.5734_5736delAAGDeletion - In frame
ANKRD36CENSG00000174501ENST00000456556p.?c.1560+8T>CUnknown
EIF2AK3ENSG00000172071ENST00000303236p.A116Dc.347C>ASubstitution - Missense
COL18A1ENSG00000182871ENST00000355480p.Q162fs*142c.479delCDeletion - Frameshift
LRRC3ENSG00000160233ENST00000291592p.H144Nc.430C>ASubstitution - Missense
TMPRSS2ENSG00000184012ENST00000454499p.S261Sc.783C>TSubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.K1877fs*8c.5628delCDeletion - Frameshift
CCDC151ENSG00000198003ENST00000356392p.D333Nc.997G>ASubstitution - Missense
PRKCSHENSG00000130175ENST00000252455p.E189fs*27c.558_559delAGDeletion - Frameshift
ENST00000250872p.?c.392+3C>AUnknown
QTRT1ENSG00000213339ENST00000250237p.R327Rc.981C>TSubstitution - coding silent
DLGAP1ENSG00000170579ENST00000539435p.D204Dc.612C>TSubstitution - coding silent
GLT8D1ENSG00000016864ENST00000394783p.R56*c.166C>TSubstitution - Nonsense
NT5DC2ENSG00000168268ENST00000307076p.W426Cc.1278G>TSubstitution - Missense
ENST00000273600p.I2818Ic.8454C>TSubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.T14Tc.42C>TSubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.T1424Mc.4271C>TSubstitution - Missense
MAPKAPK3ENSG00000114738ENST00000446044p.?c.505-5C>TUnknown
HYAL2ENSG00000068001ENST00000395139p.Q422*c.1264C>TSubstitution - Nonsense
RBM6ENSG00000004534ENST00000266022p.G98fs*56c.287delGDeletion - Frameshift
STX18ENSG00000168818ENST00000306200p.K206Ic.617A>TSubstitution - Missense
TMEM33ENSG00000109133ENST00000504986p.?c.396+6T>CUnknown
DYRK1AENSG00000157540ENST00000398960p.N151fs*12c.452_453insAInsertion - Frameshift
IFNAR2ENSG00000159110ENST00000382241p.K226fs*19c.675delADeletion - Frameshift
IFNAR2ENSG00000159110ENST00000404220p.K226fs*19c.675delADeletion - Frameshift
TIAM1ENSG00000156299ENST00000286827p.?c.2662+10T>CUnknown
TMPRSS15ENSG00000154646ENST00000284885p.L658Lc.1972C>TSubstitution - coding silent
KRT28ENSG00000173908ENST00000306658p.K421*c.1261A>TSubstitution - Nonsense
CETPENSG00000087237ENST00000200676p.F488fs*5c.1461delTDeletion - Frameshift
BBS2ENSG00000125124ENST00000245157p.L128Lc.382T>CSubstitution - coding silent
NOD2ENSG00000167207ENST00000300589p.R426Hc.1277G>ASubstitution - Missense
PLECENSG00000178209ENST00000322810p.R4296Cc.12886C>TSubstitution - Missense
PLECENSG00000178209ENST00000345136p.R4159Cc.12475C>TSubstitution - Missense
PLECENSG00000178209ENST00000354958p.R4137Cc.12409C>TSubstitution - Missense
ZC3H3ENSG00000014164ENST00000262577p.G101fs*102c.302delGDeletion - Frameshift
GSDMDENSG00000104518ENST00000262580p.K55Tc.164A>CSubstitution - Missense
GLI4ENSG00000250571ENST00000340042p.Q274*c.820C>TSubstitution - Nonsense
CYP3A4ENSG00000160868ENST00000336411p.V500Ic.1498G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.T2047Tc.6141C>TSubstitution - coding silent
TRRAPENSG00000196367ENST00000359863p.T2065Tc.6195C>TSubstitution - coding silent
SUN1ENSG00000164828ENST00000456758p.V757Mc.2269G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.E1867Ac.5600A>CSubstitution - Missense
BTN3A2ENSG00000186470ENST00000396948p.?c.917-13_929>19Unknown
HIST1H1EENSG00000168298ENST00000304218p.K183fs*>37c.543delADeletion - Frameshift
KIF13AENSG00000137177ENST00000259711p.V1116fs*23c.3345delADeletion - Frameshift
WDR27ENSG00000184465ENST00000333572p.T759Tc.2277G>ASubstitution - coding silent
WDR27ENSG00000184465ENST00000448612p.S582fs*7c.1744delTDeletion - Frameshift
WDR27ENSG00000184465ENST00000333572p.S582fs*7c.1744delTDeletion - Frameshift
WIPF1ENSG00000115935ENST00000392546p.P265Pc.795T>GSubstitution - coding silent
TXNRD2ENSG00000184470ENST00000334363p.H135Hc.405C>TSubstitution - coding silent
DGCR2ENSG00000070413ENST00000263196p.L47fs*23c.139delCDeletion - Frameshift
DNMT3BENSG00000088305ENST00000201963p.C643Yc.1928G>ASubstitution - Missense
C20orf141ENSG00000258713ENST00000380589p.D49Dc.147C>TSubstitution - coding silent
APMAPENSG00000101474ENST00000217456p.P191Pc.573C>ASubstitution - coding silent
SYT5ENSG00000129990ENST00000354308p.?c.372+5delgUnknown
NLRP2ENSG00000022556ENST00000543010p.?c.397+7G>AUnknown
GATA6ENSG00000141448ENST00000269216p.C60Cc.180C>TSubstitution - coding silent
GATA6ENSG00000141448ENST00000269216p.S552fs*>44c.1649_1650delGADeletion - Frameshift
CTAGE1ENSG00000212710ENST00000391403p.P690fs*30c.2069delCDeletion - Frameshift
TMEM200CENSG00000206432ENST00000383490p.M1Tc.2T>CSubstitution - Missense
ME2ENSG00000082212ENST00000321341p.P78Lc.233C>TSubstitution - Missense
MBD1ENSG00000141644ENST00000457839p.R17Rc.51C>TSubstitution - coding silent
MBD1ENSG00000141644ENST00000382948p.R17Rc.51C>TSubstitution - coding silent
MBD1ENSG00000141644ENST00000339998p.R17Rc.51C>TSubstitution - coding silent
SMAD7ENSG00000101665ENST00000262158p.P209fs*25c.625_626delCCDeletion - Frameshift
ENSG00000182319ENST00000330777p.R402fs*30c.1201delCDeletion - Frameshift
PSD3ENSG00000156011ENST00000327040p.L307Lc.921G>ASubstitution - coding silent
PARP10ENSG00000178685ENST00000313028p.A467Tc.1399G>ASubstitution - Missense
EMILIN1ENSG00000138080ENST00000380320p.A21fs*44c.58delGDeletion - Frameshift
EMILIN1ENSG00000138080ENST00000380320p.C120fs*3c.356_372del17Deletion - Frameshift
MYEOV2ENSG00000172428ENST00000307266p.A64Vc.191C>TSubstitution - Missense
BMPR2ENSG00000204217ENST00000374580p.P739Sc.2215C>TSubstitution - Missense
HECW2ENSG00000138411ENST00000260983p.A673fs*46c.2011_2012insCInsertion - Frameshift
DNAH7ENSG00000118997ENST00000312428p.V4016Vc.12048A>GSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R16216Cc.48646C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R9844Cc.29530C>TSubstitution - Missense
NM_003319p.R9719Cc.29155C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T10659Ac.31975A>GSubstitution - Missense
ENST00000356127p.T17029Ac.51085A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T10726Ac.32176A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.D17320Gc.51959A>GSubstitution - Missense
NM_003319p.D17195Gc.51584A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.Y23138Yc.69414C>TSubstitution - coding silent
ENST00000356127p.Y29508Yc.88524C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.T29479Mc.88436C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T23107Mc.69320C>TSubstitution - Missense
VSNL1ENSG00000163032ENST00000295156p.Y129Hc.385T>CSubstitution - Missense
FERMT1ENSG00000101311ENST00000217289p.Q226fs*17c.676_677insCInsertion - Frameshift
ENST00000339538p.Q226fs*17c.676_677insCInsertion - Frameshift
LAMA5ENSG00000130702ENST00000252999p.Y2881fs*25c.8640delGDeletion - Frameshift
PRPF31ENSG00000105618ENST00000321030p.?c.421-9C>TUnknown
CACNG8ENSG00000142408ENST00000270458p.K76Nc.228G>CSubstitution - Missense
DPRXENSG00000204595ENST00000376650p.M1Ic.3G>ASubstitution - Missense
ZNF677ENSG00000197928ENST00000333952p.A28Tc.82G>ASubstitution - Missense
PTPRSENSG00000105426ENST00000357368p.W1505Gc.4513T>GSubstitution - Missense
HAS1ENSG00000105509ENST00000222115p.G440Gc.1320C>TSubstitution - coding silent
MYH2ENSG00000125414ENST00000245503p.S37fs*28c.110_111delCTDeletion - Frameshift
GRIN2AENSG00000183454ENST00000396573p.R1300Gc.3898A>GSubstitution - Missense
CENPBD1ENSG00000177946ENST00000314994p.A9Ec.26C>ASubstitution - Missense
KLHDC4ENSG00000104731ENST00000270583p.D455Nc.1363G>ASubstitution - Missense
VASNENSG00000168140ENST00000304735p.V489Mc.1465G>ASubstitution - Missense
OR1F1ENSG00000168124ENST00000304646p.C179Cc.537C>TSubstitution - coding silent
ZNF213ENSG00000085644ENST00000574902p.R224Qc.671G>ASubstitution - Missense
ITGADENSG00000156886ENST00000389202p.V369Mc.1105G>ASubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.D265Nc.793G>ASubstitution - Missense
TRIM72ENSG00000177238ENST00000322122p.R166Hc.497G>ASubstitution - Missense
BBXENSG00000114439ENST00000415149p.K452fs*49c.1350delADeletion - Frameshift
TATDN2ENSG00000157014ENST00000287652p.Y419Hc.1255T>CSubstitution - Missense
NXPE3ENSG00000144815ENST00000273347p.F264Lc.792C>GSubstitution - Missense
SENP7ENSG00000138468ENST00000394095p.L555Mc.1663C>ASubstitution - Missense
NM_020654.2p.L489Mc.1465C>ASubstitution - Missense
PAQR3ENSG00000163291ENST00000511594p.A163Tc.487G>ASubstitution - Missense
CCNG2ENSG00000138764ENST00000316355p.K232fs*21c.691delADeletion - Frameshift
ENST00000400001p.K490Nc.1470G>TSubstitution - Missense
ADH1AENSG00000187758ENST00000209668p.H139Hc.417C>TSubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.R57Wc.169C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A4730Gc.14189C>GSubstitution - Missense
STRNENSG00000115808ENST00000263918p.L539Lc.1615C>TSubstitution - coding silent
CRIM1ENSG00000150938ENST00000280527p.R627Pc.1880G>CSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.P2903Pc.8709G>ASubstitution - coding silent
CAPN13ENSG00000162949ENST00000295055p.D621Nc.1861G>ASubstitution - Missense
IFT172ENSG00000138002ENST00000260570p.G354Dc.1061G>ASubstitution - Missense
GCKRENSG00000084734ENST00000264717p.R533Qc.1598G>ASubstitution - Missense
SLC35E4ENSG00000100036ENST00000343605p.R99Wc.295C>TSubstitution - Missense
TTC28ENSG00000100154ENST00000397906p.D2422Dc.7266C>TSubstitution - coding silent
PCMTD2ENSG00000203880ENST00000308824p.P334fs*2c.996delCDeletion - Frameshift
PRPF6ENSG00000101161ENST00000266079p.P43Hc.128C>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.G1025Gc.3075C>TSubstitution - coding silent
RTEL1ENSG00000258366ENST00000508582p.G1049Gc.3147C>TSubstitution - coding silent
ZSCAN4ENSG00000180532ENST00000318203p.R204Rc.610C>ASubstitution - coding silent
PEG3ENSG00000198300ENST00000326441p.E986Ec.2958G>ASubstitution - coding silent
C19orf70ENSG00000174917ENST00000309324p.A51fs*39c.150delCDeletion - Frameshift
NLRP4ENSG00000160505ENST00000587891p.D912Gc.2735A>GSubstitution - Missense
IQSEC2ENSG00000124313ENST00000396435p.R1145Rc.3433C>ASubstitution - coding silent
XM_291345.2p.R1142Rc.3424C>ASubstitution - coding silent
HDAC6ENSG00000094631ENST00000334136p.A704Ac.2112A>GSubstitution - coding silent
DDX3XENSG00000215301ENST00000399959p.R262Hc.785G>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.N742Sc.2225A>GSubstitution - Missense
ENSG00000183154ENST00000330539p.L80Mc.238T>ASubstitution - Missense
AFF1ENSG00000172493ENST00000395146p.S673fs*41c.2011delCDeletion - Frameshift
PTPN13ENSG00000163629ENST00000436978p.N2242fs*60c.6722delADeletion - Frameshift
CDH16ENSG00000166589ENST00000299752p.P505Sc.1513C>TSubstitution - Missense
SLC38A7ENSG00000103042ENST00000219320p.S169Gc.505A>GSubstitution - Missense
ENST00000391338_v68p.K103fs*3c.304delADeletion - Frameshift
SLCO6A1ENSG00000205359ENST00000379807p.D357fs*1c.1061_1062insTInsertion - Frameshift
ENSG00000219492ENST00000508324p.C202Yc.605G>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.V640Mc.1918G>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000397459p.V312Mc.934G>ASubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.R2039Wc.6115C>TSubstitution - Missense
SULT1C3ENSG00000196228ENST00000329106p.V39fs*28c.110delADeletion - Frameshift
SULT1C3ENSG00000196228ENST00000376700p.V39fs*28c.110delADeletion - Frameshift
ST6GAL2ENSG00000144057ENST00000361686p.L251Lc.751C>TSubstitution - coding silent
KLF11ENSG00000172059ENST00000305883p.A333Vc.998C>TSubstitution - Missense
RABL2BENSG00000079974ENST00000435118p.R123Gc.367A>GSubstitution - Missense
OTOP3ENSG00000182938ENST00000328801p.I338Vc.1012A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.G7681*c.23041G>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.G7681*c.23041G>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000423061p.G7610*c.22828G>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.?c.25247-3C>TUnknown
C6orf211ENSG00000146476ENST00000367294p.S290Sc.870T>CSubstitution - coding silent
CCDC170ENSG00000120262ENST00000239374p.K600Rc.1799A>GSubstitution - Missense
SHPRHENSG00000146414ENST00000367505p.L1407fs*9c.4218_4219insAInsertion - Frameshift
TNFAIP3ENSG00000118503ENST00000237289p.R569Qc.1706G>ASubstitution - Missense
C5orf22ENSG00000082213ENST00000325366p.T123Ac.367A>GSubstitution - Missense
OR2Y1ENSG00000174339ENST00000307832p.L55Lc.165G>ASubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.E2634Ac.7901A>CSubstitution - Missense
INTUENSG00000164066ENST00000335251p.Q457Qc.1371G>ASubstitution - coding silent
HS3ST1ENSG00000002587ENST00000002596p.Q38Rc.113A>GSubstitution - Missense
EGFENSG00000138798ENST00000265171p.N36Hc.106A>CSubstitution - Missense
ENST00000312756p.F101Lc.301T>CSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.L864Lc.2590T>CSubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.L864Lc.2590T>CSubstitution - coding silent
C3orf20ENSG00000131379ENST00000253697p.F793Lc.2379T>GSubstitution - Missense
EVA1AENSG00000115363ENST00000393913p.V92Vc.276G>ASubstitution - coding silent
ARSHENSG00000205667ENST00000381130p.A204Tc.610G>ASubstitution - Missense
CXorf58ENSG00000165182ENST00000379211p.T313Tc.939T>CSubstitution - coding silent
SH3KBP1ENSG00000147010ENST00000397821p.R457Cc.1369C>TSubstitution - Missense
CA5BENSG00000169239ENST00000318636p.E211Gc.632A>GSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.K1573Mc.4718A>TSubstitution - Missense
MECP2ENSG00000169057ENST00000303391p.A259Vc.776C>TSubstitution - Missense
STEAP4ENSG00000127954ENST00000380079p.L194fs*37c.575_576insCInsertion - Frameshift
ADAM22ENSG00000008277ENST00000265727p.S877Sc.2631C>TSubstitution - coding silent
ADAM22ENSG00000008277ENST00000398209p.S870Sc.2610C>TSubstitution - coding silent
SLC25A40ENSG00000075303ENST00000341119p.D37Dc.111T>CSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.P305Hc.914C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P305Hc.914C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P1221Pc.3663A>GSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.A2286Tc.6856G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A2217Tc.6649G>ASubstitution - Missense
TAX1BP1ENSG00000106052ENST00000396319p.T343Tc.1029C>ASubstitution - coding silent
PDE10AENSG00000112541ENST00000366882p.T536Mc.1607C>TSubstitution - Missense
MYLIPENSG00000007944ENST00000356840p.T135Ic.404C>TSubstitution - Missense
SYNJ2ENSG00000078269ENST00000449859p.R141Rc.423C>TSubstitution - coding silent
ARID1BENSG00000049618ENST00000275248p.K1959fs*20c.5874_5875insGInsertion - Frameshift
SYNE1ENSG00000131018ENST00000423061p.E373Vc.1118A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S1876Sc.5628C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.S1883Sc.5649C>TSubstitution - coding silent
ETAA1ENSG00000143971ENST00000272342p.P96delPc.284_286delCTCDeletion - In frame
SPRED2ENSG00000198369ENST00000356388p.C390fs*16c.1167delCDeletion - Frameshift
BCL11AENSG00000119866ENST00000335712p.P84Pc.252A>GSubstitution - coding silent
EML6ENSG00000214595ENST00000356458p.?c.5751_5751+1delTgUnknown
SPTBN1ENSG00000115306ENST00000356805p.G205Sc.613G>ASubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.G192Sc.574G>ASubstitution - Missense
SP100ENSG00000067066ENST00000264052p.E329Gc.986A>GSubstitution - Missense
SP100ENSG00000067066ENST00000341950p.E329Gc.986A>GSubstitution - Missense
SP100ENSG00000067066ENST00000264052p.C780Cc.2340C>TSubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.H848Hc.2544C>TSubstitution - coding silent
XM_051221.5p.H848Hc.2544C>TSubstitution - coding silent
COL4A4ENSG00000081052ENST00000396625p.?c.4522+9A>GUnknown
PTPRNENSG00000054356ENST00000295718p.S662Sc.1986C>TSubstitution - coding silent
GLB1LENSG00000163521ENST00000295759p.Y331Yc.993T>CSubstitution - coding silent
BCS1LENSG00000074582ENST00000392109p.L341fs*37c.1021_1022delCTDeletion - Frameshift
PAX8ENSG00000125618ENST00000429538p.L371Lc.1111C>TSubstitution - coding silent
DMDENSG00000198947ENST00000357033p.T3155Ic.9464C>TSubstitution - Missense
DMDENSG00000198947ENST00000378723p.T87Ic.260C>TSubstitution - Missense
DMDENSG00000198947ENST00000378677p.T3151Ic.9452C>TSubstitution - Missense
ENST00000378682p.T1814Ic.5441C>TSubstitution - Missense
SLC26A8ENSG00000112053ENST00000355574p.N323Sc.968A>GSubstitution - Missense
ZNF76ENSG00000065029ENST00000373953p.Q432fs*4c.1289delCDeletion - Frameshift
S100ZENSG00000171643ENST00000317593p.L5Lc.15C>TSubstitution - coding silent
OCLNENSG00000197822ENST00000396442p.G406Gc.1218C>TSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.R619Cc.1855C>TSubstitution - Missense
CCDC51ENSG00000164051ENST00000395694p.R22Qc.65G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.I815Vc.2443A>GSubstitution - Missense
KIF15ENSG00000163808ENST00000326047p.R60Qc.179G>ASubstitution - Missense
TMEM42ENSG00000169964ENST00000302392p.M84Ic.252G>ASubstitution - Missense
SNRKENSG00000163788ENST00000454177p.L752Mc.2254C>ASubstitution - Missense
SNRKENSG00000163788ENST00000454177p.L752Mc.2254C>ASubstitution - Missense
PPP6R2ENSG00000100239ENST00000359139p.T10Tc.30G>ASubstitution - coding silent
TBC1D22AENSG00000054611ENST00000337137p.P240Pc.720C>TSubstitution - coding silent
MCATENSG00000100294ENST00000290429p.A207Gc.620C>GSubstitution - Missense
CYB5R3ENSG00000100243ENST00000396303p.R209Hc.626G>ASubstitution - Missense
SERHL2ENSG00000183569ENST00000327678p.?c.649-1G>TUnknown
IQSEC1ENSG00000144711ENST00000429247p.P212Lc.635C>TSubstitution - Missense
GATA2ENSG00000179348ENST00000341105p.?c.1143+9G>CUnknown
MCM2ENSG00000073111ENST00000265056p.R115Lc.344G>TSubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.P733Pc.2199A>GSubstitution - coding silent
PLXNA1ENSG00000114554ENST00000393409p.R931Hc.2792G>ASubstitution - Missense
OSBPL11ENSG00000144909ENST00000296220p.C591Cc.1773T>CSubstitution - coding silent
KALRNENSG00000160145ENST00000291478p.H33Qc.99T>ASubstitution - Missense
KALRNENSG00000160145ENST00000360013p.H1730Qc.5190T>ASubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.I1429Vc.4285A>GSubstitution - Missense
ATP7AENSG00000165240ENST00000341514p.V125Ac.374T>CSubstitution - Missense
NM_000052.2p.V125Ac.374T>CSubstitution - Missense
MAGEE1ENSG00000198934ENST00000361470p.L861Lc.2583G>ASubstitution - coding silent
NM_001010888.1p.?c.791+4C>TUnknown
SMARCA2ENSG00000080503ENST00000349721p.Q253delQc.748_750delCAADeletion - In frame
SMARCA2ENSG00000080503ENST00000349721p.Q253delQc.748_750delCAADeletion - In frame
ENST00000324457p.V52Lc.154G>TSubstitution - Missense
ANAPC2ENSG00000176248ENST00000323927p.A593Tc.1777G>ASubstitution - Missense
C7orf26ENSG00000146576ENST00000344417p.A353Vc.1058C>TSubstitution - Missense
TYW1ENSG00000198874ENST00000359626p.S692Nc.2075G>ASubstitution - Missense
ZNF138ENSG00000197008ENST00000440155p.H191Hc.573T>CSubstitution - coding silent
ZNF138ENSG00000197008ENST00000359735p.H160Hc.480T>CSubstitution - coding silent
RELNENSG00000189056ENST00000343529p.M709Vc.2125A>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.T3124Mc.9371C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.P537Hc.1610C>ASubstitution - Missense
PCOLCEENSG00000106333ENST00000223061p.P3Hc.8C>ASubstitution - Missense
SRFENSG00000112658ENST00000265354p.V183Gc.548T>GSubstitution - Missense
PPP2R5DENSG00000112640ENST00000485511p.T540fs*8c.1613delCDeletion - Frameshift
CUL7ENSG00000044090ENST00000265348p.R1092Qc.3275G>ASubstitution - Missense
DAAM2ENSG00000146122ENST00000538976p.R751Mc.2252G>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.H1559Hc.4677T>CSubstitution - coding silent
TAOK2ENSG00000149930ENST00000279394p.D207Dc.621C>TSubstitution - coding silent
PRRT2ENSG00000167371ENST00000358758p.D302Dc.906C>TSubstitution - coding silent
ATXN2LENSG00000168488ENST00000395547p.Q941fs*48c.2817delCDeletion - Frameshift
ATXN2LENSG00000168488ENST00000336783p.Q941fs*48c.2817delCDeletion - Frameshift
IL21RENSG00000103522ENST00000395754p.R517fs*>22c.1543delCDeletion - Frameshift
GTF3C1ENSG00000077235ENST00000356183p.R1054Cc.3160C>TSubstitution - Missense
DHDHENSG00000104808ENST00000221403p.Q217Qc.651G>ASubstitution - coding silent
PPP1R15AENSG00000087074ENST00000200453p.P334fs*6c.996delCDeletion - Frameshift
GRWD1ENSG00000105447ENST00000253237p.T232Tc.696C>TSubstitution - coding silent
GLTSCR1ENSG00000063169ENST00000396720p.P967Lc.2900C>TSubstitution - Missense
PPP5CENSG00000011485ENST00000012443p.A114Ac.342C>TSubstitution - coding silent
HIF3AENSG00000124440ENST00000300862p.G79Vc.236G>TSubstitution - Missense
SYMPKENSG00000125755ENST00000245934p.L653Lc.1959G>CSubstitution - coding silent
BCAMENSG00000187244ENST00000270233p.A239Ac.717C>ASubstitution - coding silent
GMIPENSG00000089639ENST00000203556p.Q241fs*67c.721delCDeletion - Frameshift
ENST00000397179p.L140Lc.420G>ASubstitution - coding silent
ABHD17AENSG00000129968ENST00000250974p.R349Sc.1045C>ASubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.D283Nc.847G>ASubstitution - Missense
SEC24AENSG00000113615ENST00000398844p.T389Mc.1166C>TSubstitution - Missense
IRF1ENSG00000125347ENST00000245414p.P2Hc.5C>ASubstitution - Missense
RAD50ENSG00000113522ENST00000265335p.S236Pc.706T>CSubstitution - Missense
FNIP1ENSG00000217128ENST00000510461p.I925fs*3c.2773delADeletion - Frameshift
FNIP1ENSG00000217128ENST00000510461p.E558Kc.1672G>ASubstitution - Missense
SNCAIPENSG00000064692ENST00000503116p.P547Lc.1640C>TSubstitution - Missense
SNCAIPENSG00000064692ENST00000261368p.G730fs*30c.2185delGDeletion - Frameshift
SNCAIPENSG00000064692ENST00000379533p.G777fs*30c.2326delGDeletion - Frameshift
CCDC149ENSG00000181982ENST00000504487p.P482Pc.1446G>ASubstitution - coding silent
DCHS2ENSG00000197410ENST00000357232p.N2138Dc.6412A>GSubstitution - Missense
LRBAENSG00000198589ENST00000357115p.W2855*c.8564G>ASubstitution - Nonsense
LRBAENSG00000198589ENST00000357115p.?c.8350-2A>GUnknown
NR3C2ENSG00000151623ENST00000358102p.G412Rc.1234G>ASubstitution - Missense
SMARCA5ENSG00000153147ENST00000283131p.?c.2521-5T>CUnknown
MAML3ENSG00000196782ENST00000509479p.R827Qc.2480G>ASubstitution - Missense
NM_001184p.L2076Vc.6226C>GSubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.A677Vc.2030C>TSubstitution - Missense
NPHP3ENSG00000113971ENST00000337331p.K425Rc.1274A>GSubstitution - Missense
ACAD11ENSG00000240303ENST00000264990p.?c.2228+9A>GUnknown
UPK1BENSG00000114638ENST00000264234p.G79Cc.235G>TSubstitution - Missense
ENSG00000206532ENST00000383686p.P41Lc.122C>TSubstitution - Missense
MCM6ENSG00000076003ENST00000264156p.Q171Qc.513G>ASubstitution - coding silent
ACMSDENSG00000153086ENST00000356140p.K19fs*22c.51delADeletion - Frameshift
LACE1ENSG00000135537ENST00000368977p.S4Yc.11C>ASubstitution - Missense
SOBPENSG00000112320ENST00000317357p.S277Sc.831C>TSubstitution - coding silent
ZC3H7BENSG00000100403ENST00000352645p.I17Vc.49A>GSubstitution - Missense
TNRC6BENSG00000100354ENST00000301923p.Q440*c.1318C>TSubstitution - Nonsense
CACNA1IENSG00000100346ENST00000402142p.P665Pc.1995G>ASubstitution - coding silent
KCNJ4ENSG00000168135ENST00000303592p.G412Dc.1235G>ASubstitution - Missense
KCNJ4ENSG00000168135ENST00000303592p.A64Tc.190G>ASubstitution - Missense
EIF3LENSG00000100129ENST00000412331p.A531Tc.1591G>ASubstitution - Missense
ENST00000425539p.A574Tc.1720G>ASubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.P296Lc.887C>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.P709Hc.2126C>ASubstitution - Missense
SOGA2ENSG00000168502ENST00000359865p.Q1330*c.3988C>TSubstitution - Nonsense
NFATC1ENSG00000131196ENST00000329101p.?c.2053+6G>AUnknown
NFATC1ENSG00000131196ENST00000591814p.A700Tc.2098G>ASubstitution - Missense
ENST00000217537p.G924Gc.2772C>ASubstitution - coding silent
DSELENSG00000171451ENST00000310045p.Y326Yc.978T>CSubstitution - coding silent
PCDH11XENSG00000102290ENST00000373094p.E637*c.1909G>TSubstitution - Nonsense
PCDH11XENSG00000102290ENST00000504220p.E637*c.1909G>TSubstitution - Nonsense
PCDH11XENSG00000102290ENST00000395337p.E637*c.1909G>TSubstitution - Nonsense
KLHL4ENSG00000102271ENST00000373114p.Q379Hc.1137G>TSubstitution - Missense
KLHL4ENSG00000102271ENST00000373119p.Q379Hc.1137G>TSubstitution - Missense
KLHL4ENSG00000102271ENST00000373114p.P508Lc.1523C>TSubstitution - Missense
ZNF711ENSG00000147180ENST00000373165p.R332Ic.995G>TSubstitution - Missense
NM_021998.2p.R342Ic.1025G>TSubstitution - Missense
FAM172AENSG00000113391ENST00000395965p.V109Ac.326T>CSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.G5263Sc.15787G>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.K175Rc.524A>GSubstitution - Missense
VCANENSG00000038427ENST00000265077p.S2504Nc.7511G>ASubstitution - Missense
ACOT12ENSG00000172497ENST00000307624p.H197Hc.591C>TSubstitution - coding silent
ASIC2ENSG00000108684ENST00000359872p.T213fs*15c.629_630insGInsertion - Frameshift
ZNF292ENSG00000188994ENST00000339907p.R2400fs*4c.7191_7192insAInsertion - Frameshift
PDE7BENSG00000171408ENST00000308191p.A210Ac.630A>TSubstitution - coding silent
KIAA1958ENSG00000165185ENST00000337530p.V153Ic.457G>ASubstitution - Missense
OR13C5ENSG00000255800ENST00000374779p.F28fs*6c.84delTDeletion - Frameshift
CYLC2ENSG00000155833ENST00000374798p.G164fs*69c.484delADeletion - Frameshift
GALNT12ENSG00000119514ENST00000375011p.P357fs*54c.1068delCDeletion - Frameshift
COL15A1ENSG00000204291ENST00000375001p.T382Pc.1144A>CSubstitution - Missense
MTBPENSG00000172167ENST00000305949p.R860Hc.2579G>ASubstitution - Missense
SYBUENSG00000147642ENST00000399066p.V10Mc.28G>ASubstitution - Missense
XKR6ENSG00000171044ENST00000416569p.M206fs*1c.615delCDeletion - Frameshift
DSPENSG00000096696ENST00000379802p.?c.1_2insAUnknown
MTO1ENSG00000135297ENST00000370300p.I476Nc.1427T>ASubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.V1137fs*15c.3408_3409insAInsertion - Frameshift
DSEENSG00000111817ENST00000331677p.N550Sc.1649A>GSubstitution - Missense
RNF43ENSG00000108375ENST00000407977p.C298Yc.893G>ASubstitution - Missense
MKS1ENSG00000011143ENST00000393119p.S232Nc.695G>ASubstitution - Missense
MKS1ENSG00000011143ENST00000337050p.S232Nc.695G>ASubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.L27Lc.79C>TSubstitution - coding silent
NLRP1ENSG00000091592ENST00000262467p.L27Lc.79C>TSubstitution - coding silent
NLRP1ENSG00000091592ENST00000572272p.L27Lc.79C>TSubstitution - coding silent
DGKEENSG00000153933ENST00000284061p.R44Lc.131G>TSubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.W995Rc.2983T>CSubstitution - Missense
HDAC5ENSG00000108840ENST00000393622p.G874Sc.2620G>ASubstitution - Missense
CD300LGENSG00000161649ENST00000317310p.A266Tc.796G>ASubstitution - Missense
CD300LGENSG00000161649ENST00000293396p.A181Tc.541G>ASubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.E107Dc.321G>TSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.E107Dc.321G>TSubstitution - Missense
PLEKHH3ENSG00000068137ENST00000293349p.R443Hc.1328G>ASubstitution - Missense
NAGLUENSG00000108784ENST00000225927p.S573Nc.1718G>ASubstitution - Missense
NKIRAS2ENSG00000168256ENST00000307641p.V53fs*78c.152delGDeletion - Frameshift
KAT2AENSG00000108773ENST00000225916p.P810fs*>28c.2429delCDeletion - Frameshift
NM_033133.3p.M60Ic.180G>ASubstitution - Missense
CYP1B1ENSG00000138061ENST00000260630p.G310Gc.930T>CSubstitution - coding silent
GGNBP2ENSG00000005955ENST00000304718p.K376fs*26c.1124delADeletion - Frameshift
C17orf102ENSG00000197322ENST00000357754p.G68Gc.204T>GSubstitution - coding silent
SH3RF2ENSG00000156463ENST00000359120p.R427*c.1279C>TSubstitution - Nonsense
PCDHGA11ENSG00000253873ENST00000398587p.R58Qc.173G>ASubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.T623Mc.1868C>TSubstitution - Missense
ENST00000571252_v68p.R282Wc.844C>TSubstitution - Missense
MCCC1ENSG00000078070ENST00000265594p.L517Pc.1550T>CSubstitution - Missense
TTC14ENSG00000163728ENST00000296015p.H550Rc.1649A>GSubstitution - Missense
TTC14ENSG00000163728ENST00000382584p.H550Rc.1649A>GSubstitution - Missense
TBC1D5ENSG00000131374ENST00000253692p.N535fs*54c.1604delADeletion - Frameshift
GPR160ENSG00000173890ENST00000355897p.S6fs*18c.7_8insCTInsertion - Frameshift
RYR1ENSG00000196218ENST00000359596p.M195Ic.585G>ASubstitution - Missense
HKR1ENSG00000181666ENST00000324411p.R570Rc.1710G>ASubstitution - coding silent
ENSG00000272333ENST00000222270p.G1101fs*83c.3298delGDeletion - Frameshift
GABRA3ENSG00000011677ENST00000370314p.S393Nc.1178G>ASubstitution - Missense
TMEM257ENSG00000221870ENST00000408967p.N26Nc.78C>TSubstitution - coding silent
NME8ENSG00000086288ENST00000199447p.R251Qc.752G>ASubstitution - Missense
BMPERENSG00000164619ENST00000297161p.V389Ic.1165G>ASubstitution - Missense
BBS9ENSG00000122507ENST00000242067p.?c.1432+6T>GUnknown
BBS9ENSG00000122507ENST00000242067p.?c.1432+6T>GUnknown
PDE1CENSG00000154678ENST00000396193p.K539Rc.1616A>GSubstitution - Missense
EGLN2ENSG00000269858ENST00000303961p.E167Ec.501G>ASubstitution - coding silent
LTBP4ENSG00000090006ENST00000308370p.D1252Dc.3756C>TSubstitution - coding silent
ADCK4ENSG00000123815ENST00000324464p.R80*c.238C>TSubstitution - Nonsense
PRXENSG00000105227ENST00000324001p.V156Vc.468C>TSubstitution - coding silent
FBLENSG00000105202ENST00000221801p.?c.795+9T>GUnknown
HNRNPLENSG00000104824ENST00000221419p.P361Pc.1083C>ASubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.G1125Gc.3375G>ASubstitution - coding silent
CDK20ENSG00000156345ENST00000325303p.V78Vc.234G>ASubstitution - coding silent
CDK20ENSG00000156345ENST00000336654p.V91Vc.273G>ASubstitution - coding silent
SPIN1ENSG00000106723ENST00000375859p.G188Gc.564C>TSubstitution - coding silent
DAPK1ENSG00000196730ENST00000408954p.T380Ic.1139C>TSubstitution - Missense
ZCCHC6ENSG00000083223ENST00000375963p.S210Sc.630A>GSubstitution - coding silent
SLC28A3ENSG00000197506ENST00000376238p.?c.1949+2T>AUnknown
TLE1ENSG00000196781ENST00000376499p.S573Lc.1718C>TSubstitution - Missense
NACC2ENSG00000148411ENST00000371753p.R377Wc.1129C>TSubstitution - Missense
PPP1R26ENSG00000196422ENST00000356818p.L567fs*36c.1697delTDeletion - Frameshift
BRD3ENSG00000169925ENST00000303407p.E25fs*51c.63_64insCInsertion - Frameshift
BPHLENSG00000137274ENST00000380375p.E98fs*1c.285_286insTInsertion - Frameshift
HLA-BENSG00000234745ENST00000412585p.G186Gc.558C>TSubstitution - coding silent
NRMENSG00000137404ENST00000259953p.L63fs*23c.187delCDeletion - Frameshift
GNL1ENSG00000204590ENST00000376621p.D581fs*>27c.1741delGDeletion - Frameshift
HLA-GENSG00000204632ENST00000360323p.R155Rc.465C>TSubstitution - coding silent
SCAND3ENSG00000232040ENST00000452236p.R272Hc.815G>ASubstitution - Missense
HIST1H3JENSG00000197153ENST00000359303p.K116Kc.348G>ASubstitution - coding silent
ZNF184ENSG00000096654ENST00000377419p.H561Hc.1683T>CSubstitution - coding silent
G3BP1ENSG00000145907ENST00000394123p.P163Sc.487C>TSubstitution - Missense
SLC36A1ENSG00000123643ENST00000243389p.L324Fc.970C>TSubstitution - Missense
GPX3ENSG00000211445ENST00000388825p.R197Hc.590G>ASubstitution - Missense
SYNPOENSG00000171992ENST00000394243p.R152Wc.454C>TSubstitution - Missense
TCOF1ENSG00000070814ENST00000504761p.T628Ic.1883C>TSubstitution - Missense
TCOF1ENSG00000070814ENST00000323668p.T551Ic.1652C>TSubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.G188Dc.563G>ASubstitution - Missense
PCDHB11ENSG00000197479ENST00000354757p.Q244Hc.732G>TSubstitution - Missense
PCDHB12ENSG00000120328ENST00000239450p.N418Nc.1254C>TSubstitution - coding silent
PCDHB11ENSG00000197479ENST00000354757p.S32Rc.96C>GSubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.A692Vc.2075C>TSubstitution - Missense
PCDHAC2ENSG00000243232ENST00000289269p.C741Cc.2223C>TSubstitution - coding silent
PDZD4ENSG00000067840ENST00000164640p.E337Gc.1010A>GSubstitution - Missense
MTSS1LENSG00000132613ENST00000338779p.G560fs*34c.1677delCDeletion - Frameshift
RGS22ENSG00000132554ENST00000360863p.A702Vc.2105C>TSubstitution - Missense
STAG3ENSG00000066923ENST00000426455p.L26Lc.78A>GSubstitution - coding silent
ZNF716ENSG00000182111ENST00000420713p.G9Ec.26G>ASubstitution - Missense
FBXL18ENSG00000155034ENST00000382368p.?c.237+2T>CUnknown
NM_024963.2p.?c.237+2T>CUnknown
WIPI2ENSG00000157954ENST00000288828p.P284Lc.851C>TSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.K557fs*10c.1669_1672delAAAADeletion - Frameshift
TNS3ENSG00000136205ENST00000311160p.S452Nc.1355G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.L4126*c.12377T>ASubstitution - Nonsense
ASB10ENSG00000146926ENST00000275838p.S319Sc.957C>TSubstitution - coding silent
ASB10ENSG00000146926ENST00000422024p.S364Sc.1092C>TSubstitution - coding silent
NOS3ENSG00000164867ENST00000297494p.D686Nc.2056G>ASubstitution - Missense
ENST00000397266p.P320Pc.960C>ASubstitution - coding silent
ATP6V0E2ENSG00000171130ENST00000421974p.S167Nc.500G>ASubstitution - Missense
ZNF783ENSG00000204946ENST00000434415p.A333Tc.997G>ASubstitution - Missense
KELENSG00000197993ENST00000355265p.P326Pc.978G>ASubstitution - coding silent
CTTNBP2ENSG00000077063ENST00000160373p.Q1263Rc.3788A>GSubstitution - Missense
NDUFA4ENSG00000189043ENST00000339600p.P50Sc.148C>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.E221Ec.663G>ASubstitution - coding silent
KMT2EENSG00000005483ENST00000257745p.N1850fs*>10c.5549_5550insAInsertion - Frameshift
KIAA1211ENSG00000109265ENST00000264229p.K167fs*82c.495delADeletion - Frameshift
PKP4ENSG00000144283ENST00000389759p.A703Vc.2108C>TSubstitution - Missense
GTDC1ENSG00000121964ENST00000392869p.Y110Hc.328T>CSubstitution - Missense
HNF4AENSG00000101076ENST00000316099p.P466Lc.1397C>TSubstitution - Missense
HNF4AENSG00000101076ENST00000316673p.P444Lc.1331C>TSubstitution - Missense
DHX35ENSG00000101452ENST00000252011p.S292Lc.875C>TSubstitution - Missense
TCF3ENSG00000071564ENST00000262965p.A463Ac.1389G>ASubstitution - coding silent
TCF3ENSG00000071564ENST00000344749p.A463Ac.1389G>ASubstitution - coding silent
ILVBLENSG00000105135ENST00000263383p.V441fs*5c.1321delGDeletion - Frameshift
TGENSG00000042832ENST00000220616p.L2566Qc.7697T>ASubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.P119fs*4c.351delCDeletion - Frameshift
NM_138995p.?c.1577+4G>TUnknown
SPC25ENSG00000152253ENST00000282074p.A123Tc.367G>ASubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.H521Yc.1561C>TSubstitution - Missense
COBLL1ENSG00000082438ENST00000342193p.S904Fc.2711C>TSubstitution - Missense
TBR1ENSG00000136535ENST00000389554p.L330Lc.990G>ASubstitution - coding silent
HIC2ENSG00000169635ENST00000407464p.C510Cc.1530C>TSubstitution - coding silent
CCDC116ENSG00000161180ENST00000292779p.S131Ic.392G>TSubstitution - Missense
SNAP29ENSG00000099940ENST00000215730p.R51Sc.151C>ASubstitution - Missense
MED15ENSG00000099917ENST00000263205p.P608fs*39c.1819delCDeletion - Frameshift
MED15ENSG00000099917ENST00000292733p.P568fs*39c.1699delCDeletion - Frameshift
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
JAKMIP1ENSG00000152969ENST00000409021p.V509Mc.1525G>ASubstitution - Missense
JAKMIP1ENSG00000152969ENST00000409021p.?c.1102-3C>TUnknown
GPRIN1ENSG00000169258ENST00000303991p.S608Fc.1823C>TSubstitution - Missense
FGFR3ENSG00000068078ENST00000440486p.K403fs*29c.1200delCDeletion - Frameshift
FAM53AENSG00000174137ENST00000308132p.P247Hc.740C>ASubstitution - Missense
ACAP2ENSG00000114331ENST00000326793p.R736Wc.2206C>TSubstitution - Missense
IL1RAPENSG00000196083ENST00000443369p.D471fs*2c.1409_1412delCTGADeletion - Frameshift
FAM131AENSG00000175182ENST00000310585p.D220Nc.658G>ASubstitution - Missense
USP20ENSG00000136878ENST00000372429p.R411fs*40c.1229_1230insCInsertion - Frameshift
USP20ENSG00000136878ENST00000315480p.R411fs*40c.1229_1230insCInsertion - Frameshift
DPM2ENSG00000136908ENST00000314392p.A52Tc.154G>ASubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.V502Mc.1504G>ASubstitution - Missense
LRSAM1ENSG00000148356ENST00000373322p.A81Sc.241G>TSubstitution - Missense
RC3H2ENSG00000056586ENST00000373670p.R340Qc.1019G>ASubstitution - Missense
RC3H2ENSG00000056586ENST00000335387p.R340Qc.1019G>ASubstitution - Missense
DAB2IPENSG00000136848ENST00000259371p.H997fs*4c.2989_2990insCInsertion - Frameshift
MORN5ENSG00000185681ENST00000373764p.A63Vc.188C>TSubstitution - Missense
GSNENSG00000148180ENST00000373823p.A567Vc.1700C>TSubstitution - Missense
ENST00000373969p.T420Mc.1259C>TSubstitution - Missense
FOXD4ENSG00000170122ENST00000382500p.G387Rc.1159G>ASubstitution - Missense
KIAA1328ENSG00000150477ENST00000591619p.A477Vc.1430C>TSubstitution - Missense
KIAA1328ENSG00000150477ENST00000586135p.A233Vc.698C>TSubstitution - Missense
FBXO9ENSG00000112146ENST00000244426p.H19Yc.55C>TSubstitution - Missense
GPR115ENSG00000153294ENST00000327753p.K85fs*26c.251delADeletion - Frameshift
TDRD6ENSG00000180113ENST00000316081p.Q790Rc.2369A>GSubstitution - Missense
RCAN2ENSG00000172348ENST00000330430p.F32Sc.95T>CSubstitution - Missense
HSP90AB1ENSG00000096384ENST00000371646p.V202Vc.606G>ASubstitution - coding silent
POLR1CENSG00000171453ENST00000372389p.R50Hc.149G>ASubstitution - Missense
POLR1CENSG00000171453ENST00000304004p.R50Hc.149G>ASubstitution - Missense
XPO5ENSG00000124571ENST00000265351p.T739Tc.2217T>CSubstitution - coding silent
SPDEFENSG00000124664ENST00000374037p.W252*c.756G>ASubstitution - Nonsense
COL11A2ENSG00000204248ENST00000341947p.T323fs*19c.959_960insCInsertion - Frameshift
NOTCH4ENSG00000204301ENST00000375023p.L1483Lc.4447C>TSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.R3697Hc.11090G>ASubstitution - Missense
ZNF131ENSG00000172262ENST00000306938p.I293fs*45c.871delADeletion - Frameshift
DDX41ENSG00000183258ENST00000507955p.V163Mc.487G>ASubstitution - Missense
DBN1ENSG00000113758ENST00000292385p.Q560fs*23c.1678delCDeletion - Frameshift
NSD1ENSG00000165671ENST00000439151p.R1031*c.3091C>TSubstitution - Nonsense
NSD1ENSG00000165671ENST00000439151p.R1031*c.3091C>TSubstitution - Nonsense
PHGDHENSG00000092621ENST00000369407p.A22Tc.64G>ASubstitution - Missense
TBX15ENSG00000092607ENST00000369429p.A589Vc.1766C>TSubstitution - Missense
CSF1ENSG00000184371ENST00000329608p.R523Wc.1567C>TSubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.A1174Vc.3521C>TSubstitution - Missense
STX5ENSG00000162236ENST00000377897p.Y265Yc.795C>TSubstitution - coding silent
MYRFENSG00000124920ENST00000278836p.N514Kc.1542C>GSubstitution - Missense
MYRFENSG00000124920ENST00000327797p.N139Kc.417C>GSubstitution - Missense
CTNND1ENSG00000198561ENST00000399050p.M324Ic.972G>ASubstitution - Missense
CTNND1ENSG00000198561ENST00000361391p.M324Ic.972G>ASubstitution - Missense
ENST00000457912_v65p.V371Mc.1111G>ASubstitution - Missense
SMTNL1ENSG00000214872ENST00000457912p.V371Mc.1111G>ASubstitution - Missense
SSRP1ENSG00000149136ENST00000278412p.K539Tc.1616A>CSubstitution - Missense
PTPRJENSG00000149177ENST00000440289p.P445Pc.1335G>ASubstitution - coding silent
PEX16ENSG00000121680ENST00000378750p.P228Sc.682C>TSubstitution - Missense
WT1ENSG00000184937ENST00000332351p.Y228Yc.684C>TSubstitution - coding silent
BCL9LENSG00000186174ENST00000334801p.P1119Sc.3355C>TSubstitution - Missense
PPP2R1BENSG00000137713ENST00000527614p.A2Ac.6G>ASubstitution - coding silent
LAYNENSG00000204381ENST00000375615p.Q122Hc.366G>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000404771p.H922Hc.2766C>TSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000372443p.H927Hc.2781C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374323p.S252Sc.756C>TSubstitution - coding silent
UBFD1ENSG00000103353ENST00000219638p.T439Mc.1316C>TSubstitution - Missense
PKMENSG00000067225ENST00000449901p.A398Tc.1192G>ASubstitution - Missense
BUB1BENSG00000156970ENST00000412359p.P313Pc.939C>GSubstitution - coding silent
SYNE2ENSG00000054654ENST00000357395p.D2665Nc.7993G>ASubstitution - Missense
RPGRIP1ENSG00000092200ENST00000206660p.H512Hc.1536C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000373388p.?c.1008-1G>TUnknown
MMEL1ENSG00000142606ENST00000378412p.D664Dc.1992C>TSubstitution - coding silent
MYOM3ENSG00000142661ENST00000329601p.D898Ec.2694C>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.?c.8890-9T>CUnknown
RYR2ENSG00000198626ENST00000360064p.F3841Lc.11521T>CSubstitution - Missense
ITPKBENSG00000143772ENST00000366784p.R165Hc.494G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.G1458*c.4372G>TSubstitution - Nonsense
RPS6KC1ENSG00000136643ENST00000543354p.I423Mc.1269A>GSubstitution - Missense
COLGALT2ENSG00000198756ENST00000367520p.R337Hc.1010G>ASubstitution - Missense
NCSTNENSG00000162736ENST00000368063p.?c.522+9A>GUnknown
ARHGEF2ENSG00000116584ENST00000368315p.R263Hc.788G>ASubstitution - Missense
NBPF9ENSG00000168614ENST00000281815p.N129Yc.385A>TSubstitution - Missense
TMPRSS3ENSG00000160183ENST00000380399p.S208Sc.624G>ASubstitution - coding silent
CTCFLENSG00000124092ENST00000423479p.C460Yc.1379G>ASubstitution - Missense
TPX2ENSG00000088325ENST00000340513p.V331Ac.992T>CSubstitution - Missense
ENST00000451442_v70p.P176Hc.527C>ASubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.R721Hc.2162G>ASubstitution - Missense
PRMT1ENSG00000126457ENST00000454376p.V240Mc.718G>ASubstitution - Missense
HKR1ENSG00000181666ENST00000392153p.R551Rc.1653G>ASubstitution - coding silent
UNC13AENSG00000130477ENST00000252773p.D283Nc.847G>ASubstitution - Missense
SOGA2ENSG00000168502ENST00000306285p.Q655*c.1963C>TSubstitution - Nonsense
DLGAP1ENSG00000170579ENST00000581699p.D212Dc.636C>TSubstitution - coding silent
C17orf80ENSG00000141219ENST00000426147p.L475Lc.1425A>TSubstitution - coding silent
CD300LGENSG00000161649ENST00000539718p.A266Tc.796G>ASubstitution - Missense
FBXW10ENSG00000171931ENST00000308799p.V548Lc.1642G>TSubstitution - Missense
SLC12A4ENSG00000124067ENST00000537830p.A559Ac.1677C>TSubstitution - coding silent
RAB11FIP3ENSG00000090565ENST00000457159p.M791Lc.2371A>CSubstitution - Missense
CACUL1ENSG00000151893ENST00000340214p.Q56fs*32c.165delGDeletion - Frameshift
ADARB2ENSG00000185736ENST00000381310p.F146fs*3c.435delCDeletion - Frameshift
ENST00000368674p.P103fs*58c.308delCDeletion - Frameshift
NELFAENSG00000185049ENST00000382882p.T523Tc.1569G>ASubstitution - coding silent
SLC9B2ENSG00000164038ENST00000339611p.P230Pc.690A>GSubstitution - coding silent
NT5DC2ENSG00000168268ENST00000422318p.W463Cc.1389G>TSubstitution - Missense
TNK2ENSG00000061938ENST00000316664p.R57Wc.169C>TSubstitution - Missense
NME9ENSG00000181322ENST00000333911p.V170Mc.508G>ASubstitution - Missense
FANCD2OSENSG00000163705ENST00000524279p.Q110Hc.330G>CSubstitution - Missense
COBLL1ENSG00000082438ENST00000194871p.S971Fc.2912C>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000545861p.?c.1240+6C>TUnknown
PPP6R2ENSG00000100239ENST00000216061p.N362Dc.1084A>GSubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.?c.2017-4G>AUnknown
CACNA1IENSG00000100346ENST00000400164p.?c.1894-4G>AUnknown
ENST00000378024_v70p.G5477Rc.16429G>ASubstitution - Missense
NRMENSG00000137404ENST00000444096p.L63fs*23c.185delCDeletion - Frameshift
BPHLENSG00000137274ENST00000380379p.E115fs*1c.336_337insTInsertion - Frameshift
IPO11ENSG00000086200ENST00000409296p.S847fs*22c.2532delTDeletion - Frameshift
CCNG2ENSG00000138764ENST00000354403p.K232fs*21c.691delADeletion - Frameshift
CLASP1ENSG00000074054ENST00000455322p.S1188fs*1c.3553_3554insGInsertion - Frameshift
CLASP1ENSG00000074054ENST00000541859p.S949fs*1c.2836_2837insGInsertion - Frameshift
ENST00000266078p.P110fs*2c.324delCDeletion - Frameshift
DGCR2ENSG00000070413ENST00000545799p.L47fs*23c.139delCDeletion - Frameshift
ENST00000326873_v70p.P281fs*6c.837delCDeletion - Frameshift
ATXN2LENSG00000168488ENST00000325215p.Q941fs*48c.2817delCDeletion - Frameshift
RORAENSG00000069667ENST00000449337p.K353fs*7c.1057_1060delAAGADeletion - Frameshift
NDE1ENSG00000072864ENST00000396353p.L245fs*97c.728delCDeletion - Frameshift
ENST00000256343_v70p.R403fs*40c.1206delTDeletion - Frameshift
MACF1ENSG00000127603ENST00000317713p.T3790fs*15c.11368_11369insAInsertion - Frameshift
NFASCENSG00000163531ENST00000367171p.R56fs*5c.162delCDeletion - Frameshift
UBE4BENSG00000130939ENST00000377157p.?c.594_603+23>31Unknown
ANO6ENSG00000177119ENST00000441606p.F44fs*12c.127delTDeletion - Frameshift
ARID5BENSG00000150347ENST00000309334p.G821fs*43c.2458delGDeletion - Frameshift
DMTNENSG00000158856ENST00000358242p.R236Cc.706C>TSubstitution - Missense
MTSS1ENSG00000170873ENST00000378017p.S223Lc.668C>TSubstitution - Missense
SYBUENSG00000147642ENST00000422135p.V13Mc.37G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.A2286Tc.6856G>ASubstitution - Missense
ENST00000257665_v70p.A568Pc.1702G>CSubstitution - Missense
ABCB8ENSG00000197150ENST00000542328p.G98Dc.293G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T3267Mc.9800C>TSubstitution - Missense
SUPT3HENSG00000196284ENST00000371458p.L107Lc.319C>TSubstitution - coding silent
ENST00000377171_v70p.I167Vc.499A>GSubstitution - Missense
PDE10AENSG00000112541ENST00000539869p.T546Mc.1637C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.E373Vc.1118A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.S1913Sc.5739C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.G7293*c.21877G>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000448038p.?c.25103-3C>TUnknown
ZNF300ENSG00000145908ENST00000446148p.T476Tc.1428T>GSubstitution - coding silent
TCOF1ENSG00000070814ENST00000394269p.T628Ic.1883C>TSubstitution - Missense
PCDH1ENSG00000156453ENST00000394536p.L73Ic.217C>ASubstitution - Missense
SORCS2ENSG00000184985ENST00000507866p.V852Ic.2554G>ASubstitution - Missense
TEX10ENSG00000136891ENST00000374902p.R5fs*10c.13delADeletion - Frameshift
RYR2ENSG00000198626ENST00000366574p.S4124Sc.12372C>TSubstitution - coding silent
SLC7A13ENSG00000164893ENST00000297524p.S126fs*20c.372delTDeletion - Frameshift
PCDHA2ENSG00000204969ENST00000526136p.R732Hc.2195G>ASubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.G43Ec.128G>ASubstitution - Missense
GATA1ENSG00000102145ENST00000376665p.A254Ec.761C>ASubstitution - Missense
HDAC6ENSG00000094631ENST00000444343p.A718Ac.2154A>GSubstitution - coding silent
TENM1ENSG00000009694ENST00000422452p.D1960Gc.5879A>GSubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.S1095Nc.3284G>ASubstitution - Missense
NAA35ENSG00000135040ENST00000416045p.T118Mc.353C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.T380Ic.1139C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.?c.2413+4T>CUnknown
UNC13BENSG00000198722ENST00000396787p.R55Hc.164G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000314367p.?c.323-1G>CUnknown
NUP214ENSG00000126883ENST00000451030p.A1255Tc.3763G>ASubstitution - Missense
SH2D3CENSG00000095370ENST00000373276p.V434Mc.1300G>ASubstitution - Missense
GSNENSG00000148180ENST00000436847p.A578Vc.1733C>TSubstitution - Missense
TMEM67ENSG00000164953ENST00000409623p.E828Kc.2482G>ASubstitution - Missense
IGSF22ENSG00000179057ENST00000319338p.M164fs*7c.490delADeletion - Frameshift
CLIP1ENSG00000130779ENST00000358808p.A1163Vc.3488C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.?c.6717-1G>TUnknown
LRFN4ENSG00000173621ENST00000309602p.V120fs*25c.354delCDeletion - Frameshift
RPGRIP1ENSG00000092200ENST00000400017p.H128Hc.384C>TSubstitution - coding silent
ZFHX2ENSG00000136367ENST00000419474p.R1174Wc.3520C>TSubstitution - Missense
LGALS8ENSG00000116977ENST00000527974p.M237fs*13c.704delCDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.G4127Vc.12380G>TSubstitution - Missense
ENST00000349637p.R1972Ic.5915G>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.H989Hc.2967C>TSubstitution - coding silent
MYL6ENSG00000092841ENST00000550697p.?c.3+1_32-4>25Unknown
MYL6ENSG00000092841ENST00000547649p.?c.426_428-3del1066Unknown
ERBB3ENSG00000065361ENST00000267101p.H1304fs*7c.3905delCDeletion - Frameshift
C4BPAENSG00000123838ENST00000367070p.C203Yc.608G>ASubstitution - Missense
TRMT10CENSG00000174173ENST00000309922p.D314Dc.942T>CSubstitution - coding silent
MICAL3ENSG00000243156ENST00000441493p.P1407Lc.4220C>TSubstitution - Missense
CST7ENSG00000077984ENST00000376835p.C85Sc.254G>CSubstitution - Missense
PFASENSG00000178921ENST00000314666p.L851Lc.2553G>ASubstitution - coding silent
MBD1ENSG00000141644ENST00000269471p.R17Rc.51C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.R612Cc.1834C>TSubstitution - Missense
METTL16ENSG00000127804ENST00000263092p.R388Cc.1162C>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.R1238Qc.3713G>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000265388p.Y848fs*25c.2541delCDeletion - Frameshift
FLNCENSG00000128591ENST00000325888p.R2410Cc.7228C>TSubstitution - Missense
CHST8ENSG00000124302ENST00000262622p.R241Hc.722G>ASubstitution - Missense
ENST00000312127_v68p.M1Ic.3G>ASubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.G2589Dc.7766G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.D1953Gc.5858A>GSubstitution - Missense
NAB1ENSG00000138386ENST00000409581p.A196Vc.587C>TSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.E1795_D1796insEc.5387_5388insAGAInsertion - In frame
ARHGEF2ENSG00000116584ENST00000313695p.R234Hc.701G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.H322Hc.966C>TSubstitution - coding silent
MARCH7ENSG00000136536ENST00000259050p.Y244Yc.732C>TSubstitution - coding silent
AP5S1ENSG00000125843ENST00000379567p.C27Cc.81C>TSubstitution - coding silent
EPHA1ENSG00000146904ENST00000275815p.?c.2084-2A>GUnknown
CTNSENSG00000040531ENST00000046640p.D205delDc.611_613delACGDeletion - In frame
FNIP1ENSG00000217128ENST00000510461p.S103Fc.308C>TSubstitution - Missense
NSUN2ENSG00000037474ENST00000264670p.G420Gc.1260A>GSubstitution - coding silent
MAGEE1ENSG00000198934ENST00000361470p.L861Lc.2583G>ASubstitution - coding silent
FREM1ENSG00000164946ENST00000380894p.V175Lc.523G>TSubstitution - Missense
RAB33BENSG00000172007ENST00000305626p.P142Qc.425C>ASubstitution - Missense
FRS3ENSG00000137218ENST00000259748p.L294fs*9c.879delGDeletion - Frameshift
CERKENSG00000100422ENST00000216264p.K477fs*52c.1428_1429insGInsertion - Frameshift
UBR2ENSG00000024048ENST00000372899p.S1644Gc.4930A>GSubstitution - Missense
MARCOENSG00000019169ENST00000327097p.R124Cc.370C>TSubstitution - Missense
RAB17ENSG00000124839ENST00000264601p.A204Vc.611C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P1282Pc.3846A>GSubstitution - coding silent
ANKRD50ENSG00000151458ENST00000504087p.R513Hc.1538G>ASubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.L1034Rc.3101T>GSubstitution - Missense
TSNAXIP1ENSG00000102904ENST00000388833p.E86Dc.258G>TSubstitution - Missense
ABCA6ENSG00000154262ENST00000284425p.L240Vc.718C>GSubstitution - Missense
TFE3ENSG00000068323ENST00000315869p.G482fs*44c.1445delGDeletion - Frameshift
KCNU1ENSG00000215262ENST00000399881p.N742Sc.2225A>GSubstitution - Missense
PCYT1AENSG00000161217ENST00000292823p.A217Ac.651G>ASubstitution - coding silent
C10orf90ENSG00000154493ENST00000284694p.P150fs*58c.449delCDeletion - Frameshift
GUCY2CENSG00000070019ENST00000261170p.N757fs*8c.2270delADeletion - Frameshift
ENST00000242365_v65p.L233fs*1c.698delTDeletion - Frameshift
SCN10AENSG00000185313ENST00000449082p.G1049Cc.3145G>TSubstitution - Missense
NM_006218.1p.H1047Yc.3139C>TSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.P678fs*10c.2027delCDeletion - Frameshift
KIAA1161ENSG00000164976ENST00000297625p.R367Hc.1100G>ASubstitution - Missense
TBC1D22AENSG00000054611ENST00000380995p.P193Pc.579C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000372412p.W1506Gc.4516T>GSubstitution - Missense
ADAM23ENSG00000114948ENST00000374415p.R391Qc.1172G>ASubstitution - Missense
DBN1ENSG00000113758ENST00000309007p.Q558fs*23c.1672delCDeletion - Frameshift
PRG4ENSG00000116690ENST00000445192p.S275Sc.825T>GSubstitution - coding silent
KDM2BENSG00000089094ENST00000377071p.K794Kc.2382G>ASubstitution - coding silent
C1orf94ENSG00000142698ENST00000488417p.A190Vc.569C>TSubstitution - Missense
CCND1ENSG00000110092ENST00000227507p.L119fs*1c.351delCDeletion - Frameshift
P2RY2ENSG00000175591ENST00000393596p.R265Hc.794G>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.K570Tc.1709A>CSubstitution - Missense
NM_182507.1p.?c.772-5G>AUnknown
TMPRSS12ENSG00000186452ENST00000398458p.P193Hc.578C>ASubstitution - Missense
RAB4AENSG00000168118ENST00000366690p.R207Cc.619C>TSubstitution - Missense
OSBPL8ENSG00000091039ENST00000261183p.L16Fc.46C>TSubstitution - Missense
ENST00000349637p.T2029Tc.6087G>ASubstitution - coding silent
DGKZENSG00000149091ENST00000454345p.V1027Vc.3081G>TSubstitution - coding silent
RAG1ENSG00000166349ENST00000299440p.C910Yc.2729G>ASubstitution - Missense
TAF3ENSG00000165632ENST00000344293p.K309Rc.926A>GSubstitution - Missense
ARHGEF15ENSG00000198844ENST00000361926p.E328Kc.982G>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000337103p.S276Rc.828C>ASubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.V1116fs*23c.3345delADeletion - Frameshift
SLC12A3ENSG00000070915ENST00000438926p.G152Gc.456C>TSubstitution - coding silent
TMPRSS2ENSG00000184012ENST00000398585p.S298Sc.894C>TSubstitution - coding silent
FAM178BENSG00000168754ENST00000417561p.K46Ec.136A>GSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.A29Tc.85G>ASubstitution - Missense
XM_043272.9p.A381Tc.1141G>ASubstitution - Missense
PTGISENSG00000124212ENST00000244043p.A436fs*31c.1306delGDeletion - Frameshift
ALDH16A1ENSG00000161618ENST00000293350p.V654Vc.1962G>ASubstitution - coding silent
GPR32ENSG00000142511ENST00000270590p.L257Mc.769C>ASubstitution - Missense
PALMENSG00000099864ENST00000338448p.L98Lc.294G>ASubstitution - coding silent
ADAM23ENSG00000114948ENST00000374416p.R391Qc.1172G>ASubstitution - Missense
MAN1C1ENSG00000117643ENST00000374332p.H381Yc.1141C>TSubstitution - Missense
RBFOX1ENSG00000078328ENST00000550418p.A96Ac.288A>GSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.L2090Lc.6270G>ASubstitution - coding silent
ENST00000371759_v68p.L187Sc.560T>CSubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.?c.2173-2A>GUnknown
CYP1B1ENSG00000138061ENST00000260630p.P437Pc.1311G>ASubstitution - coding silent
NELFAENSG00000185049ENST00000333877p.T512Tc.1536G>ASubstitution - coding silent
KIAA1958ENSG00000165185ENST00000374244p.V153Ic.457G>ASubstitution - Missense
REV3LENSG00000009413ENST00000358835p.G2749Gc.8247C>TSubstitution - coding silent
ITPR1ENSG00000150995ENST00000357086p.I830Vc.2488A>GSubstitution - Missense
MAGEE2ENSG00000186675ENST00000373359p.A13Tc.37G>ASubstitution - Missense
TYW1ENSG00000198874ENST00000359626p.L498Lc.1494G>ASubstitution - coding silent
C3orf27ENSG00000198685ENST00000356020p.L38fs*40c.112_113insAInsertion - Frameshift
CEP68ENSG00000011523ENST00000377990p.F562Fc.1686C>TSubstitution - coding silent
CPVLENSG00000106066ENST00000396276p.K265fs*11c.794delADeletion - Frameshift
SEMA6AENSG00000092421ENST00000343348p.H14fs*47c.40delCDeletion - Frameshift
CLEC4FENSG00000152672ENST00000272367p.I104Nc.311T>ASubstitution - Missense
ENST00000543338p.R362Cc.1084C>TSubstitution - Missense
ENST00000380830p.C2Cc.6T>CSubstitution - coding silent
NXNENSG00000167693ENST00000336868p.P177Hc.530C>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.P2903Pc.8709G>ASubstitution - coding silent
GTF3C2ENSG00000115207ENST00000264720p.G395fs*29c.1184delGDeletion - Frameshift
ZNF432ENSG00000256087ENST00000221315p.?c.143-8G>AUnknown
TRAT1ENSG00000163519ENST00000295756p.?c.7+8G>AUnknown
PCLOENSG00000186472ENST00000423517p.P1282Pc.3846A>GSubstitution - coding silent
ENST00000319144_v70p.A397Tc.1189G>ASubstitution - Missense
ST6GAL2ENSG00000144057ENST00000409087p.L251Lc.751C>TSubstitution - coding silent
NFASCENSG00000163531ENST00000367172p.R56fs*5c.162delCDeletion - Frameshift
SPEGENSG00000072195ENST00000396688p.T21fs*11c.55delCDeletion - Frameshift
DOCK10ENSG00000135905ENST00000409592p.K1953Nc.5859G>TSubstitution - Missense
NFASCENSG00000163531ENST00000367171p.R436Lc.1307G>TSubstitution - Missense
RAB14ENSG00000119396ENST00000373840p.Q209fs*>7c.625delCDeletion - Frameshift
NR5A1ENSG00000136931ENST00000373588p.A85Tc.253G>ASubstitution - Missense
WDR34ENSG00000119333ENST00000372715p.L438fs*21c.1312_1313delCTDeletion - Frameshift
PKN3ENSG00000160447ENST00000291906p.P300Pc.900A>CSubstitution - coding silent
TNXBENSG00000168477ENST00000375244p.R3632Hc.10895G>ASubstitution - Missense
EPC2ENSG00000135999ENST00000258484p.R403Qc.1208G>ASubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.E221Ec.663G>ASubstitution - coding silent
DDR1ENSG00000204580ENST00000324771p.G221Gc.663C>TSubstitution - coding silent
TRIM31ENSG00000204616ENST00000376734p.Q87Rc.260A>GSubstitution - Missense
FBXL18ENSG00000155034ENST00000453700p.?c.237+2T>CUnknown
MAGEA10ENSG00000124260ENST00000370323p.T347Ac.1039A>GSubstitution - Missense
ASB10ENSG00000146926ENST00000420175p.S319Sc.957C>TSubstitution - coding silent
OR1D5ENSG00000262628ENST00000575751p.M268Tc.803T>CSubstitution - Missense
ENST00000575751_v68p.M268Tc.803T>CSubstitution - Missense
ENST00000379278p.Q84*c.250C>TSubstitution - Nonsense
KAT6BENSG00000156650ENST00000287239p.S1770Gc.5308A>GSubstitution - Missense
COMTD1ENSG00000165644ENST00000372538p.P80Pc.240G>ASubstitution - coding silent
ACACBENSG00000076555ENST00000543201p.I758fs*5c.2266delGDeletion - Frameshift
LGSNENSG00000146166ENST00000485906p.E217Kc.649G>ASubstitution - Missense
ZFP36L2ENSG00000152518ENST00000282388p.G107fs*80c.320delGDeletion - Frameshift
NLRP1ENSG00000091592ENST00000262467p.K583fs*14c.1748delADeletion - Frameshift
CA2ENSG00000104267ENST00000285379p.L147fs*1c.434delTDeletion - Frameshift
SLC25A47ENSG00000140107ENST00000361529p.A129Sc.385G>TSubstitution - Missense
DLL4ENSG00000128917ENST00000249749p.R446Hc.1337G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.Q1547Rc.4640A>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.Q1525Rc.4574A>GSubstitution - Missense
ST5ENSG00000166444ENST00000534127p.V872Mc.2614G>ASubstitution - Missense
ENST00000400889_v68p.S7Nc.20G>ASubstitution - Missense
NM_024426.2p.Y160Yc.480C>TSubstitution - coding silent
NUMBENSG00000133961ENST00000555238p.A622Vc.1865C>TSubstitution - Missense
SLC22A6ENSG00000197901ENST00000377871p.R331Hc.992G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.G1855*c.5563G>TSubstitution - Nonsense
RBM14ENSG00000239306ENST00000310137p.S317Cc.950C>GSubstitution - Missense
CABP2ENSG00000167791ENST00000294288p.D200Dc.600C>TSubstitution - coding silent
TMEM151AENSG00000179292ENST00000327259p.P334fs*89c.997delCDeletion - Frameshift
TENM4ENSG00000149256ENST00000278550p.R1845Hc.5534G>ASubstitution - Missense
TMPRSS12ENSG00000186452ENST00000398458p.T139Sc.416C>GSubstitution - Missense
ENST00000349637p.K4272Tc.12815A>CSubstitution - Missense
TSNAXIP1ENSG00000102904ENST00000388833p.N486Nc.1458T>CSubstitution - coding silent
OTTHUMT00000056248.1p.L28fs*51c.76delCDeletion - Frameshift
WDR1ENSG00000071127ENST00000499869p.K489Nc.1467G>TSubstitution - Missense
SLC9B2ENSG00000164038ENST00000362026p.P230Pc.690A>GSubstitution - coding silent
NGLY1ENSG00000151092ENST00000280700p.L363Fc.1087C>TSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.S727Sc.2181C>TSubstitution - coding silent
ENSG00000182329ENST00000541917p.S550fs*25c.1641delADeletion - Frameshift
OTOFENSG00000115155ENST00000272371p.R652Qc.1955G>ASubstitution - Missense
DNMT3BENSG00000088305ENST00000328111p.C651Yc.1952G>ASubstitution - Missense
PLECENSG00000178209ENST00000436759p.R4186Cc.12556C>TSubstitution - Missense
CGGBP1ENSG00000163320ENST00000462901p.D37Ec.111T>ASubstitution - Missense
CGGBP1ENSG00000163320ENST00000309534p.D37Ec.111T>ASubstitution - Missense
NM_001002021.1p.R248Kc.743G>ASubstitution - Missense
TBCDENSG00000141556ENST00000355528p.D219Gc.656A>GSubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.?c.3522+4A>GUnknown
ZNF675ENSG00000197372ENST00000359788p.C485Yc.1454G>ASubstitution - Missense
FANCCENSG00000158169ENST00000289081p.E225Kc.673G>ASubstitution - Missense
RIMS4ENSG00000101098ENST00000372851p.G75Gc.225C>TSubstitution - coding silent
TMEM184AENSG00000164855ENST00000297477p.Y329Yc.987C>TSubstitution - coding silent
C19orf69ENSG00000204978ENST00000378187p.L82Lc.244C>TSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.G2355Dc.7064G>ASubstitution - Missense
CCHCR1ENSG00000204536ENST00000396268p.P101Sc.301C>TSubstitution - Missense
C6orf136ENSG00000204564ENST00000293604p.H348Hc.1044C>TSubstitution - coding silent
PCDHB12ENSG00000120328ENST00000239450p.T428Tc.1284C>ASubstitution - coding silent
PCDHB11ENSG00000197479ENST00000354757p.N274Nc.822T>CSubstitution - coding silent
NT5EENSG00000135318ENST00000257770p.Y263Hc.787T>CSubstitution - Missense
NM_139285.1p.R234Cc.700C>TSubstitution - Missense
PCDH1ENSG00000156453ENST00000287008p.L73Ic.217C>ASubstitution - Missense
HEATR6ENSG00000068097ENST00000184956p.V438fs*24c.1311delADeletion - Frameshift
PLEKHH3ENSG00000068137ENST00000293349p.R126Wc.376C>TSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.G575Rc.1723G>ASubstitution - Missense
LRBAENSG00000198589ENST00000357115p.V290fs*3c.869_870delTGDeletion - Frameshift
RSPH4AENSG00000111834ENST00000229554p.N566fs*18c.1691delADeletion - Frameshift
TAF1ENSG00000147133ENST00000276072p.M1121Tc.3362T>CSubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.N1669fs*21c.5006_5007insAInsertion - Frameshift
ZNF430ENSG00000118620ENST00000261560p.G425Ac.1274G>CSubstitution - Missense
IRF4ENSG00000137265ENST00000380956p.I118Nc.353T>ASubstitution - Missense
PEX13ENSG00000162928ENST00000295030p.D148Nc.442G>ASubstitution - Missense
NYAP2ENSG00000144460ENST00000272907p.V344fs*29c.1025delCDeletion - Frameshift
SU_SPEGp.T870fs*11c.2602delCDeletion - Frameshift
DMDENSG00000198947ENST00000378677p.T3151Ic.9452C>TSubstitution - Missense
ENST00000326929p.N600Kc.1800C>GSubstitution - Missense
SHPRHENSG00000146414ENST00000438092p.L1411fs*9c.4230_4231insAInsertion - Frameshift
GPNMBENSG00000136235ENST00000381990p.S251Sc.753C>ASubstitution - coding silent
BEST3ENSG00000127325ENST00000330891p.F15fs*32c.45delTDeletion - Frameshift
WNK4ENSG00000126562ENST00000246914p.V608fs*53c.1816delGDeletion - Frameshift
EML6ENSG00000214595ENST00000356458p.N1675fs*7c.5018delADeletion - Frameshift
CPPED1ENSG00000103381ENST00000381774p.G15fs*31c.44delGDeletion - Frameshift
NDE1ENSG00000072864ENST00000396354p.L245fs*>91c.728delCDeletion - Frameshift
CBWD1ENSG00000172785ENST00000377447p.?c.431-1G>CUnknown
ABHD4ENSG00000100439ENST00000428304p.R21Cc.61C>TSubstitution - Missense
CEP192ENSG00000101639ENST00000506447p.T788fs*40c.2356delADeletion - Frameshift
PLECENSG00000178209ENST00000356346p.R4145Cc.12433C>TSubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.G1098Gc.3294T>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.S1883Sc.5649C>TSubstitution - coding silent
BEST3ENSG00000127325ENST00000331471p.F15fs*32c.45delTDeletion - Frameshift
TEX10ENSG00000136891ENST00000535814p.R8fs*10c.22delADeletion - Frameshift
KIAA0100ENSG00000007202ENST00000528896p.R410fs*56c.1228delADeletion - Frameshift
C16orf62ENSG00000103544ENST00000448695p.P198Pc.594A>GSubstitution - coding silent
MCRS1ENSG00000187778ENST00000549528p.A142Vc.425C>TSubstitution - Missense
TNKS1BP1ENSG00000149115ENST00000358252p.S1435Gc.4303A>GSubstitution - Missense
TOR1AENSG00000136827ENST00000351698p.D194Gc.581A>GSubstitution - Missense
FGFR3ENSG00000068078ENST00000340107p.K405fs*29c.1206delCDeletion - Frameshift
TCTE1ENSG00000146221ENST00000371505p.P102Lc.305C>TSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.Q1290Qc.3870G>ASubstitution - coding silent
SFMBT2ENSG00000198879ENST00000379711p.*161Wc.482A>GNonstop extension
TJP1ENSG00000104067ENST00000346128p.P1348Pc.4044T>CSubstitution - coding silent
WNK1ENSG00000060237ENST00000537687p.N2487Nc.7461C>TSubstitution - coding silent
C10orf76ENSG00000120029ENST00000370033p.C394fs*1c.1182_1185delTCTGDeletion - Frameshift
ZNF215ENSG00000149054ENST00000278319p.R514*c.1540C>TSubstitution - Nonsense
ENST00000304751p.R18Cc.52C>TSubstitution - Missense
WDR93ENSG00000140527ENST00000268130p.?c.1545-7C>TUnknown
NM_172217.1p.?c.791-1G>AUnknown
CCDC65ENSG00000139537ENST00000320516p.L325Ic.973C>ASubstitution - Missense
FAM186BENSG00000135436ENST00000257894p.L417Fc.1249C>TSubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.A792Sc.2374G>TSubstitution - Missense
ENST00000399269p.T177Tc.531G>ASubstitution - coding silent
ENST00000349637p.A1967Tc.5899G>ASubstitution - Missense
ARHGAP32ENSG00000134909ENST00000392657p.R1252Wc.3754C>TSubstitution - Missense
KIF20BENSG00000138182ENST00000260753p.?c.4384-3T>AUnknown
MYL6ENSG00000092841ENST00000547649p.?c.175_176-2del244Unknown
PFKPENSG00000067057ENST00000381075p.Q49Qc.147G>ASubstitution - coding silent
PIBF1ENSG00000083535ENST00000326291p.K318Rc.953A>GSubstitution - Missense
DLEC1ENSG00000008226ENST00000346219p.P334fs*21c.993delTDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.Y29510Yc.88530C>TSubstitution - coding silent
NM_003319p.T22982Mc.68945C>TSubstitution - Missense
NCR1ENSG00000189430ENST00000291890p.R166Cc.496C>TSubstitution - Missense
FOXH1ENSG00000160973ENST00000377317p.P247Hc.740C>ASubstitution - Missense
ATP6V0A4ENSG00000105929ENST00000393054p.H414Hc.1242T>CSubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.I2818Ic.8454C>TSubstitution - coding silent
STAB1ENSG00000010327ENST00000321725p.D626Dc.1878C>TSubstitution - coding silent
TBC1D1ENSG00000065882ENST00000261439p.I310fs*8c.928_929insAInsertion - Frameshift
SETD5ENSG00000168137ENST00000302463p.S1225Gc.3673A>GSubstitution - Missense
SETD5ENSG00000168137ENST00000302463p.R1289Qc.3866G>ASubstitution - Missense
EIF2AK3ENSG00000172071ENST00000303236p.A116Dc.347C>ASubstitution - Missense
ENST00000420871_v68p.K162fs*17c.485delADeletion - Frameshift
ZNF433ENSG00000197647ENST00000344980p.R72Ic.215G>TSubstitution - Missense
COL4A5ENSG00000188153ENST00000361603p.G1098Gc.3294T>CSubstitution - coding silent
ARHGAP44ENSG00000006740ENST00000379672p.M760fs*19c.2277_2278insCInsertion - Frameshift
TMEM255AENSG00000125355ENST00000309720p.A102Vc.305C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.T869Sc.2605A>TSubstitution - Missense
OSBPL7ENSG00000006025ENST00000007414p.?c.1352-2_1352-1insGUnknown
GPR153ENSG00000158292ENST00000377893p.M186Vc.556A>GSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.V393Ic.1177G>ASubstitution - Missense
ATG14ENSG00000126775ENST00000247178p.K287Nc.861A>TSubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.I88Ic.264C>TSubstitution - coding silent
ENST00000436041_v68p.S5Cc.14C>GSubstitution - Missense
THNSL1ENSG00000185875ENST00000376356p.F511Fc.1533T>CSubstitution - coding silent
CEP164ENSG00000110274ENST00000278935p.P263Sc.787C>TSubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.L267Lc.801G>ASubstitution - coding silent
FOXN2ENSG00000170802ENST00000340553p.K431fs?c.1288delADeletion - Frameshift
KIAA0922ENSG00000121210ENST00000409959p.Q893Rc.2678A>GSubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.V176Ic.526G>ASubstitution - Missense
TNRC6BENSG00000100354ENST00000454349p.Q1258*c.3772C>TSubstitution - Nonsense
CACNA1IENSG00000100346ENST00000404898p.P630Pc.1890G>ASubstitution - coding silent
LRRC30ENSG00000206422ENST00000383467p.P40Pc.120G>ASubstitution - coding silent
ENST00000255667p.K139fs*2c.411delADeletion - Frameshift
ALS2CLENSG00000178038ENST00000318962p.T289Mc.866C>TSubstitution - Missense
WNK3ENSG00000196632ENST00000354646p.?c.2368-4G>AUnknown
FREM1ENSG00000164946ENST00000422223p.V1639Lc.4915G>TSubstitution - Missense
ESYT3ENSG00000158220ENST00000389567p.L473fs*29c.1416_1417insAInsertion - Frameshift
EML6ENSG00000214595ENST00000356458p.V1580Ic.4738G>ASubstitution - Missense
IQSEC1ENSG00000144711ENST00000273221p.P226Lc.677C>TSubstitution - Missense
ENST00000373702p.K466Nc.1398G>TSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.S3770Nc.11309G>ASubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.L864Lc.2590T>CSubstitution - coding silent
EIF4EBP1ENSG00000187840ENST00000338825p.A107Vc.320C>TSubstitution - Missense
SLC9B2ENSG00000164038ENST00000394785p.P230Pc.690A>GSubstitution - coding silent
TNK2ENSG00000061938ENST00000381916p.R120Wc.358C>TSubstitution - Missense
GAL3ST1ENSG00000128242ENST00000338911p.Y204Yc.612C>TSubstitution - coding silent
ZNF534ENSG00000198633ENST00000332323p.P366Pc.1098A>GSubstitution - coding silent
NM_006226.1p.I737Tc.2210T>CSubstitution - Missense
ENST00000356127p.R16214Cc.48640C>TSubstitution - Missense
PRR14ENSG00000156858ENST00000300835p.P279fs*2c.830delCDeletion - Frameshift
KRASENSG00000133703ENST00000256078p.G13Cc.37G>TSubstitution - Missense
ZBTB20ENSG00000181722ENST00000474710p.P692fs*43c.2075delCDeletion - Frameshift
NM_032946.1p.A391Tc.1171G>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.S2512Yc.7535C>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000397587p.S1172fs*1c.3505_3506insGInsertion - Frameshift
CLASP1ENSG00000074054ENST00000545861p.S939fs*1c.2806_2807insGInsertion - Frameshift
ECHDC2ENSG00000121310ENST00000541281p.V63fs*12c.187_188insGInsertion - Frameshift
HNRNPUL1ENSG00000105323ENST00000378215p.R576Wc.1726C>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.H988Hc.2964C>TSubstitution - coding silent
HK1ENSG00000156515ENST00000360289p.D718Dc.2154C>TSubstitution - coding silent
VIMENSG00000026025ENST00000421459p.R99Cc.295C>TSubstitution - Missense
USP20ENSG00000136878ENST00000372429p.R411fs*40c.1229_1230insCInsertion - Frameshift
ZNF19ENSG00000157429ENST00000288177p.C331Gc.991T>GSubstitution - Missense
TRIB3ENSG00000101255ENST00000217233p.A323Dc.968C>ASubstitution - Missense
C7orf72ENSG00000164500ENST00000297001p.L265Lc.793T>CSubstitution - coding silent
AGAP3ENSG00000133612ENST00000473312p.A142Vc.425C>TSubstitution - Missense
ENST00000274705p.V635Ic.1903G>ASubstitution - Missense
CEBPZENSG00000115816ENST00000234170p.Q741Rc.2222A>GSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.?c.2413+4T>CUnknown
BAG5ENSG00000166170ENST00000337322p.Q473Rc.1418A>GSubstitution - Missense
TROAPENSG00000135451ENST00000257909p.P753Hc.2258C>ASubstitution - Missense
DNAJC16ENSG00000116138ENST00000375847p.R54Qc.161G>ASubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.P445Pc.1335G>ASubstitution - coding silent
HTR2AENSG00000102468ENST00000378688p.T160Tc.480G>ASubstitution - coding silent
TRIM13ENSG00000204977ENST00000420995p.V93Ic.277G>ASubstitution - Missense
ZNF69ENSG00000198429ENST00000429654p.H524Hc.1572T>CSubstitution - coding silent
SETBP1ENSG00000152217ENST00000426838p.A29Tc.85G>ASubstitution - Missense
NBNENSG00000104320ENST00000265433p.N600Nc.1800T>CSubstitution - coding silent
MCM8ENSG00000125885ENST00000265187p.G815Dc.2444G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.S1520Nc.4559G>ASubstitution - Missense
PAK3ENSG00000077264ENST00000446737p.A510Vc.1529C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.I14471Ic.43413C>ASubstitution - coding silent
ENST00000446248_v68p.S554Lc.1661C>TSubstitution - Missense
CAMSAP3ENSG00000076826ENST00000446248p.S554Lc.1661C>TSubstitution - Missense
ENST00000485269p.T49Ac.145A>GSubstitution - Missense
TMEM201ENSG00000188807ENST00000340381p.R180Cc.538C>TSubstitution - Missense
GBP1ENSG00000117228ENST00000370473p.R244Cc.730C>TSubstitution - Missense
ING1ENSG00000153487ENST00000338450p.D183Nc.547G>ASubstitution - Missense
NID2ENSG00000087303ENST00000216286p.D98Nc.292G>ASubstitution - Missense
PRKAA2ENSG00000162409ENST00000371244p.A493Vc.1478C>TSubstitution - Missense
RORAENSG00000069667ENST00000335670p.K408fs*7c.1222_1225delAAGADeletion - Frameshift
SU_QSKp.A1286Ac.3858T>GSubstitution - coding silent
ENST00000392849p.G53Gc.159C>TSubstitution - coding silent
MCTP2ENSG00000140563ENST00000357742p.?c.2250+3G>AUnknown
SPTBN5ENSG00000137877ENST00000320955p.R3054Hc.9161G>ASubstitution - Missense
SF1ENSG00000168066ENST00000377390p.P498Pc.1494C>TSubstitution - coding silent
ENST00000321016_v61p.T260Tc.780C>ASubstitution - coding silent
SENP1ENSG00000079387ENST00000448372p.G410fs*3c.1219_1220insAInsertion - Frameshift
MCCC2ENSG00000131844ENST00000340941p.A249Ac.747G>ASubstitution - coding silent
BRWD3ENSG00000165288ENST00000373275p.K520Nc.1560A>TSubstitution - Missense
HIF3AENSG00000124440ENST00000377670p.G81Vc.242G>TSubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.R1461Cc.4381C>TSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.K1957Nc.5871G>TSubstitution - Missense
CROTENSG00000005469ENST00000331536p.H568Nc.1702C>ASubstitution - Missense
STX11ENSG00000135604ENST00000367568p.V172Fc.514G>TSubstitution - Missense
TULP4ENSG00000130338ENST00000367097p.L1009fs*15c.3020delCDeletion - Frameshift
SLC4A5ENSG00000188687ENST00000377634p.L1050Rc.3149T>GSubstitution - Missense
NKTRENSG00000114857ENST00000232978p.R189fs*66c.559delADeletion - Frameshift
MIF4GDENSG00000125457ENST00000245551p.T243Tc.729G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000346145p.A494Gc.1481C>GSubstitution - Missense
ZNF385DENSG00000151789ENST00000281523p.R21Hc.62G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000370018p.G1025Gc.3075C>TSubstitution - coding silent
ADCY9ENSG00000162104ENST00000294016p.A293Tc.877G>ASubstitution - Missense
TRIM72ENSG00000177238ENST00000322122p.R166Hc.497G>ASubstitution - Missense
NM_003319p.T10534Ac.31600A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.D23692Gc.71075A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T23174Mc.69521C>TSubstitution - Missense
C8orf34ENSG00000165084ENST00000518698p.S301Rc.903C>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.R612Cc.1834C>TSubstitution - Missense
ENST00000560728p.P214Pc.642T>CSubstitution - coding silent
ENST00000328843_v70p.I3732fs*9c.11189delADeletion - Frameshift
CCDC65ENSG00000139537ENST00000266984p.L325Ic.973C>ASubstitution - Missense
NBEAENSG00000172915ENST00000400445p.E2328Ec.6984A>GSubstitution - coding silent
CACUL1ENSG00000151893ENST00000340214p.E254Ec.762A>GSubstitution - coding silent
GSNENSG00000148180ENST00000373818p.A618Vc.1853C>TSubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.P119fs*4c.351delCDeletion - Frameshift
NUP214ENSG00000126883ENST00000359428p.A1254Tc.3760G>ASubstitution - Missense
TTPALENSG00000124120ENST00000262605p.S75Fc.224C>TSubstitution - Missense
JAKMIP1ENSG00000152969ENST00000282924p.?c.1102-3C>TUnknown
CHCHD10ENSG00000250479ENST00000484558p.S77fs*53c.228delGDeletion - Frameshift
PINX1ENSG00000254093ENST00000314787p.R138Wc.412C>TSubstitution - Missense
ZNF300ENSG00000145908ENST00000394226p.T460Tc.1380T>GSubstitution - coding silent
PCDHB6ENSG00000113211ENST00000231136p.A134Vc.401C>TSubstitution - Missense
ASIC2ENSG00000108684ENST00000225823p.T264fs*15c.782_783insGInsertion - Frameshift
ENSG00000272514ENST00000369562p.V529Ac.1586T>CSubstitution - Missense
SIENSG00000090402ENST00000264382p.?c.2160-4T>GUnknown
GLT6D1ENSG00000204007ENST00000371763p.D123Dc.369C>TSubstitution - coding silent
EML4ENSG00000143924ENST00000318522p.S679Pc.2035T>CSubstitution - Missense
DERL1ENSG00000136986ENST00000259512p.G93Gc.279G>ASubstitution - coding silent
CCDC51ENSG00000164051ENST00000395694p.H18Hc.54C>TSubstitution - coding silent
PPP6R2ENSG00000100239ENST00000359139p.N362Dc.1084A>GSubstitution - Missense
CPT1BENSG00000205560ENST00000395650p.E190Qc.568G>CSubstitution - Missense
ADNPENSG00000101126ENST00000349014p.S141_T142insSc.419_420insCAGInsertion - In frame
UHRF1BP1LENSG00000111647ENST00000279907p.F636fs*45c.1908delTDeletion - Frameshift
NM_007349.2p.L12fs*11c.35delTDeletion - Frameshift
NYNRINENSG00000205978ENST00000382554p.P115fs*4c.339delCDeletion - Frameshift
CLCNKBENSG00000184908ENST00000375679p.L387Lc.1161G>TSubstitution - coding silent
CAMK1ENSG00000134072ENST00000256460p.S161Sc.483C>TSubstitution - coding silent
ENST00000411702p.A4481Vc.13442C>TSubstitution - Missense
MECRENSG00000116353ENST00000263702p.G116Gc.348C>TSubstitution - coding silent
LAMA4ENSG00000112769ENST00000389463p.A551Vc.1652C>TSubstitution - Missense
CNTLNENSG00000044459ENST00000262360p.N397Nc.1191T>CSubstitution - coding silent
MORN5ENSG00000185681ENST00000536616p.A63Vc.188C>TSubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.M1100Tc.3299T>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T11966Sc.35897C>GSubstitution - Missense
ENST00000356127p.T869Sc.2605A>TSubstitution - Missense
CNKSR1ENSG00000142675ENST00000361530p.H687fs*6c.2053_2054insCInsertion - Frameshift
ING1ENSG00000153487ENST00000375774p.D370Nc.1108G>ASubstitution - Missense
RMDN3ENSG00000137824ENST00000260385p.T160Tc.480G>ASubstitution - coding silent
MAPKBP1ENSG00000137802ENST00000457542p.R117Wc.349C>TSubstitution - Missense
DENND4AENSG00000174485ENST00000431932p.P85fs*29c.252delGDeletion - Frameshift
SYNE3ENSG00000176438ENST00000334258p.T668Tc.2004G>ASubstitution - coding silent
NPAS3ENSG00000151322ENST00000356141p.M682Vc.2044A>GSubstitution - Missense
UBCENSG00000150991ENST00000339647p.H68Yc.202C>TSubstitution - Missense
ENSG00000239810ENST00000436041p.S5Cc.14C>GSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.N658fs*7c.1969delADeletion - Frameshift
DNHD1ENSG00000179532ENST00000254579p.S770Sc.2310T>CSubstitution - coding silent
GNPTABENSG00000111670ENST00000299314p.L904Lc.2712C>TSubstitution - coding silent
C1orf100ENSG00000173728ENST00000308105p.R82Qc.245G>ASubstitution - Missense
ERCC5ENSG00000134899ENST00000355739p.D709Hc.2125G>CSubstitution - Missense
MYRFENSG00000124920ENST00000265460p.N505Kc.1515C>GSubstitution - Missense
EDRF1ENSG00000107938ENST00000356792p.V834Lc.2500G>CSubstitution - Missense
HNRNPRENSG00000125944ENST00000302271p.V276Ic.826G>ASubstitution - Missense
INSRRENSG00000027644ENST00000368195p.R1044Cc.3130C>TSubstitution - Missense
BCANENSG00000132692ENST00000361588p.A369Tc.1105G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000253251p.?c.942_951+23>31Unknown
AMZ1ENSG00000174945ENST00000312371p.A208Tc.622G>ASubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.K292Nc.876A>TSubstitution - Missense
ZRSR1ENSG00000212643ENST00000391338p.K103fs*3c.304delADeletion - Frameshift
GATA1ENSG00000102145ENST00000376670p.A254Ec.761C>ASubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.E986Ec.2958G>ASubstitution - coding silent
ZNF749ENSG00000186230ENST00000334181p.C89Cc.267T>CSubstitution - coding silent
ZNF460ENSG00000197714ENST00000360338p.C478Cc.1434C>TSubstitution - coding silent
ENST00000356127p.?c.25402+8C>TUnknown
RNF165ENSG00000141622ENST00000269439p.V4Vc.12C>TSubstitution - coding silent
WDR27ENSG00000184465ENST00000448612p.T759Tc.2277G>ASubstitution - coding silent
STAB1ENSG00000010327ENST00000321725p.R1122fs*37c.3364_3365insCInsertion - Frameshift
DOCK3ENSG00000088538ENST00000266037p.T1424Mc.4271C>TSubstitution - Missense
NM_032217.3p.P2049Pc.6147A>GSubstitution - coding silent
MX2ENSG00000183486ENST00000330714p.N267Nc.801C>TSubstitution - coding silent
SUPT6HENSG00000109111ENST00000314616p.G153Vc.458G>TSubstitution - Missense
NUGGCENSG00000189233ENST00000341513p.V287Mc.859G>ASubstitution - Missense
SLC9A8ENSG00000197818ENST00000417961p.P36Qc.107C>ASubstitution - Missense
CPT1CENSG00000169169ENST00000323446p.?c.2227-4C>TUnknown
SLC5A11ENSG00000158865ENST00000347898p.L185Vc.553C>GSubstitution - Missense
UBFD1ENSG00000103353ENST00000395878p.T215Mc.644C>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.P2787Lc.8360C>TSubstitution - Missense
AF083811.1p.E437fs*41c.1309delGDeletion - Frameshift
UBA6ENSG00000033178ENST00000322244p.G429Gc.1287C>TSubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.A27Vc.80C>TSubstitution - Missense
MCF2ENSG00000101977ENST00000370578p.S14Yc.41C>ASubstitution - Missense
PIK3CGENSG00000105851ENST00000440650p.Q246*c.736C>TSubstitution - Nonsense
UBR5ENSG00000104517ENST00000520539p.T744fs*29c.2230_2231insAInsertion - Frameshift
PCDHB11ENSG00000197479ENST00000354757p.L205Lc.615C>GSubstitution - coding silent
RAB11FIP4ENSG00000131242ENST00000325874p.R538Rc.1614C>TSubstitution - coding silent
CTNSENSG00000040531ENST00000381870p.D205delDc.611_613delACGDeletion - In frame
RMI1ENSG00000178966ENST00000325875p.T365Ic.1094C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.T380Ic.1139C>TSubstitution - Missense
CNPENSG00000173786ENST00000393892p.M80Ic.240G>ASubstitution - Missense
FZD2ENSG00000180340ENST00000315323p.R554Rc.1662C>TSubstitution - coding silent
NM_002912.1p.G2671Gc.8013C>TSubstitution - coding silent
BAI3ENSG00000135298ENST00000370598p.Y123Hc.367T>CSubstitution - Missense
ATP9BENSG00000166377ENST00000307671p.R461Cc.1381C>TSubstitution - Missense
KLHL4ENSG00000102271ENST00000373119p.P508Lc.1523C>TSubstitution - Missense
TSR2ENSG00000158526ENST00000375151p.D139Dc.417T>CSubstitution - coding silent
NLGN3ENSG00000196338ENST00000358741p.L741Lc.2221C>TSubstitution - coding silent
PNPLA3ENSG00000100344ENST00000216180p.D381Nc.1141G>ASubstitution - Missense
CCDC93ENSG00000125633ENST00000376300p.?c.157-7C>TUnknown
KCNJ13ENSG00000115474ENST00000233826p.T286Ic.857C>TSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.S877Sc.2631C>TSubstitution - coding silent
SH3KBP1ENSG00000147010ENST00000379698p.R420Cc.1258C>TSubstitution - Missense
JAK1ENSG00000162434ENST00000342505p.N339fs*3c.1016delADeletion - Frameshift
GCNT2ENSG00000111846ENST00000316170p.H254fs*47c.754delCDeletion - Frameshift
DGKDENSG00000077044ENST00000264057p.G855fs*48c.2558delGDeletion - Frameshift
ELMSAN1ENSG00000156030ENST00000286523p.T1025fs*>21c.3073delADeletion - Frameshift
XYLT2ENSG00000015532ENST00000017003p.G529fs*78c.1578delCDeletion - Frameshift
UNC13BENSG00000198722ENST00000378495p.R55Hc.164G>ASubstitution - Missense
GLIS1ENSG00000174332ENST00000312233p.R275Wc.823C>TSubstitution - Missense
ENST00000328843_v70p.S3770Nc.11309G>ASubstitution - Missense
SORCS2ENSG00000184985ENST00000329016p.V680Ic.2038G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.?c.24083-3C>TUnknown
BRD3ENSG00000169925ENST00000371834p.E25fs*51c.63_64insCInsertion - Frameshift
NFASCENSG00000163531ENST00000367171p.P165fs*12c.489delCDeletion - Frameshift
ARHGEF2ENSG00000116584ENST00000361247p.R262Hc.785G>ASubstitution - Missense
TBX15ENSG00000092607ENST00000449873p.A317Vc.950C>TSubstitution - Missense
FAM186BENSG00000135436ENST00000544141p.L327Fc.979C>TSubstitution - Missense
ENST00000337072p.E338*c.1012G>TSubstitution - Nonsense
SQLEENSG00000104549ENST00000265896p.A64Tc.190G>ASubstitution - Missense
GCM1ENSG00000137270ENST00000259803p.I223Mc.669A>GSubstitution - Missense
NM_018979p.N2227Nc.6681C>TSubstitution - coding silent
SEMA4GENSG00000095539ENST00000210633p.G453Gc.1359C>TSubstitution - coding silent
EFSENSG00000100842ENST00000216733p.Q22fs*42c.64delCDeletion - Frameshift
TECPR2ENSG00000196663ENST00000359520p.L1380Vc.4138C>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.T4797Mc.14390C>TSubstitution - Missense
NTF3ENSG00000185652ENST00000331010p.E91Kc.271G>ASubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.S984Sc.2952A>GSubstitution - coding silent
COL18A1ENSG00000182871ENST00000359759p.Q162fs*107c.479delCDeletion - Frameshift
FN3KRPENSG00000141560ENST00000269373p.H288Nc.862C>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000315677p.D506Dc.1518C>TSubstitution - coding silent
EFCAB5ENSG00000176927ENST00000394835p.A1044Tc.3130G>ASubstitution - Missense
SMURF2ENSG00000108854ENST00000262435p.T262Tc.786G>ASubstitution - coding silent
TRPM3ENSG00000083067ENST00000377106p.R1134Cc.3400C>TSubstitution - Missense
LEPENSG00000174697ENST00000308868p.G133fs*15c.393delGDeletion - Frameshift
RANBP3ENSG00000031823ENST00000340578p.E30Ec.90G>ASubstitution - coding silent
ALOX15ENSG00000161905ENST00000570836p.A183Ac.549C>TSubstitution - coding silent
ENST00000360220p.P166Lc.497C>TSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.?c.7657-6T>CUnknown
CLSTN1ENSG00000171603ENST00000377298p.P207Tc.619C>ASubstitution - Missense
PSMA3ENSG00000100567ENST00000216455p.T221fs*2c.659_660insAInsertion - Frameshift
HIF1AENSG00000100644ENST00000337138p.L795Pc.2384T>CSubstitution - Missense
ITPK1ENSG00000100605ENST00000354313p.A87Tc.259G>ASubstitution - Missense
MOB3CENSG00000142961ENST00000271139p.Y37Hc.109T>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.Q1525Rc.4574A>GSubstitution - Missense
CCDC91ENSG00000123106ENST00000381259p.?c.855+6A>GUnknown
DLG2ENSG00000150672ENST00000398309p.M544Ic.1632G>ASubstitution - Missense
NFASCENSG00000163531ENST00000339876p.R436Lc.1307G>TSubstitution - Missense
SLTMENSG00000137776ENST00000380516p.S543fs*7c.1627delADeletion - Frameshift
NPHS2ENSG00000116218ENST00000367615p.S120fs*6c.358delTDeletion - Frameshift
WT1ENSG00000184937ENST00000379079p.Y16Yc.48C>TSubstitution - coding silent
AKR1C4ENSG00000198610ENST00000380448p.E237Dc.711G>TSubstitution - Missense
FBXO18ENSG00000134452ENST00000379999p.D676Dc.2028C>TSubstitution - coding silent
YLPM1ENSG00000119596ENST00000325680p.P113fs*106c.331delCDeletion - Frameshift
DMAP1ENSG00000178028ENST00000361745p.R452Wc.1354C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.L4183*c.12548T>ASubstitution - Nonsense
SIPA1L3ENSG00000105738ENST00000222345p.P1469Sc.4405C>TSubstitution - Missense
PIK3R1ENSG00000145675ENST00000336483p.D19fs*21c.54_55delAGDeletion - Frameshift
CELSR3ENSG00000008300ENST00000164024p.R2572Cc.7714C>TSubstitution - Missense
TAF1ENSG00000147133ENST00000373790p.M1100Tc.3299T>CSubstitution - Missense
C9orf173ENSG00000197768ENST00000388931p.M357Tc.1070T>CSubstitution - Missense
FGF21ENSG00000105550ENST00000222157p.A59Tc.175G>ASubstitution - Missense
RTN2ENSG00000125744ENST00000245923p.K352Ec.1054A>GSubstitution - Missense
TOMM40ENSG00000130204ENST00000252487p.D191Dc.573C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.?c.25247-3C>TUnknown
RGPD4ENSG00000196862ENST00000408999p.V1059fs*7c.3170delADeletion - Frameshift
MARCH6ENSG00000145495ENST00000274140p.?c.862-7C>TUnknown
USP9XENSG00000124486ENST00000324545p.L28fs*51c.76delCDeletion - Frameshift
SPATA2LENSG00000158792ENST00000289805p.V341fs*>84c.1021delGDeletion - Frameshift
TTNENSG00000155657ENST00000342175p.R9911Cc.29731C>TSubstitution - Missense
ENST00000356127p.D23690Gc.71069A>GSubstitution - Missense
HSPBP1ENSG00000133265ENST00000255631p.R164Wc.490C>TSubstitution - Missense
ABRENSG00000159842ENST00000291107p.D188Yc.562G>TSubstitution - Missense
TCEB3BENSG00000206181ENST00000332567p.S436Nc.1307G>ASubstitution - Missense
GPAA1ENSG00000197858ENST00000355091p.A218Vc.653C>TSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.N168fs*15c.497delADeletion - Frameshift
KRASENSG00000133703ENST00000311936p.G13Cc.37G>TSubstitution - Missense
PTENENSG00000171862ENST00000371953p.K267fs*9c.795delADeletion - Frameshift
PCDH11XENSG00000102290ENST00000298274p.E637*c.1909G>TSubstitution - Nonsense
CNTNAP3ENSG00000106714ENST00000358144p.R821Hc.2462G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.?c.6499+5C>TUnknown
NRP2ENSG00000118257ENST00000540841p.S118Sc.354C>TSubstitution - coding silent
PRRT2ENSG00000167371ENST00000567659p.D302Dc.906C>TSubstitution - coding silent
TKTL2ENSG00000151005ENST00000280605p.P293Hc.878C>ASubstitution - Missense
CPN2ENSG00000178772ENST00000323830p.L96fs*15c.285delGDeletion - Frameshift
SEMG1ENSG00000124233ENST00000372781p.S232Nc.695G>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
CCHCR1ENSG00000204536ENST00000376266p.P12Sc.34C>TSubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.G9Ec.26G>ASubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.A702Vc.2105C>TSubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.G127Gc.381A>GSubstitution - coding silent
HNRNPRENSG00000125944ENST00000374612p.V276Ic.826G>ASubstitution - Missense
TMTC3ENSG00000139324ENST00000266712p.N877fs*25c.2625delADeletion - Frameshift
ENST00000349637p.S4273Pc.12817T>CSubstitution - Missense
HYLS1ENSG00000198331ENST00000356438p.D282Dc.846C>TSubstitution - coding silent
EXT2ENSG00000151348ENST00000358681p.I725Vc.2173A>GSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.P1219Pc.3657A>GSubstitution - coding silent
ATRNENSG00000088812ENST00000262919p.F231fs*8c.687delTDeletion - Frameshift
DLEC1ENSG00000008226ENST00000308059p.P334fs*21c.993delTDeletion - Frameshift
CATSPER4ENSG00000188782ENST00000456354p.D72Dc.216C>TSubstitution - coding silent
SERPINB7ENSG00000166396ENST00000336429p.T353Mc.1058C>TSubstitution - Missense
BTAF1ENSG00000095564ENST00000265990p.L1146fs*27c.3431delTDeletion - Frameshift
KANK1ENSG00000107104ENST00000382286p.S246Gc.736A>GSubstitution - Missense
TMEM66ENSG00000133872ENST00000256255p.D122Yc.364G>TSubstitution - Missense
GFRA4ENSG00000125861ENST00000319242p.L15Pc.44T>CSubstitution - Missense
ZACNENSG00000186919ENST00000334586p.A393Tc.1177G>ASubstitution - Missense
FMNL1ENSG00000184922ENST00000331495p.M798Vc.2392A>GSubstitution - Missense
ATP2C2ENSG00000064270ENST00000262429p.N525Nc.1575C>TSubstitution - coding silent
ALOX15ENSG00000161905ENST00000545513p.A205Ac.615C>TSubstitution - coding silent
RANBP3LENSG00000164188ENST00000296604p.I383Nc.1148T>ASubstitution - Missense
NID2ENSG00000087303ENST00000216286p.R1035fs*67c.3103delCDeletion - Frameshift
CADM1ENSG00000182985ENST00000452722p.G309Gc.927T>CSubstitution - coding silent
ENST00000392849p.P1119Sc.3355C>TSubstitution - Missense
YLPM1ENSG00000119596ENST00000238571p.P113fs*106c.331delCDeletion - Frameshift
SYCP1ENSG00000198765ENST00000369518p.S103Gc.307A>GSubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.G670Dc.2009G>ASubstitution - Missense
HAPLN3ENSG00000140511ENST00000359595p.L49Rc.146T>GSubstitution - Missense
NM_001371.1p.H1559Hc.4677T>CSubstitution - coding silent
BCL11AENSG00000119866ENST00000356842p.P84Pc.252A>GSubstitution - coding silent
MRPL44ENSG00000135900ENST00000258383p.P54Pc.162G>ASubstitution - coding silent
SLC16A14ENSG00000163053ENST00000295190p.K469fs*14c.1407delADeletion - Frameshift
ARSHENSG00000205667ENST00000381130p.R125Rc.373C>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.?c.25103-3C>TUnknown
TRAK1ENSG00000182606ENST00000341421p.R304Cc.910C>TSubstitution - Missense
TRAK1ENSG00000182606ENST00000396175p.R304Cc.910C>TSubstitution - Missense
ENST00000405167p.A4602Gc.13805C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.D17387Gc.52160A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.25402+8C>TUnknown
STAU2ENSG00000040341ENST00000524300p.R18Hc.53G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.R612Cc.1834C>TSubstitution - Missense
DOK4ENSG00000125170ENST00000340099p.?c.66+1delgUnknown
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
CD7ENSG00000173762ENST00000312648p.G86Cc.256G>TSubstitution - Missense
RIPK2ENSG00000104312ENST00000220751p.?c.1029+3_1029+11delaaaaaaaaaUnknown
RCOR3ENSG00000117625ENST00000419091p.A464Vc.1391C>TSubstitution - Missense
ESYT1ENSG00000139641ENST00000541590p.A640Vc.1919C>TSubstitution - Missense
OR10AG1ENSG00000174970ENST00000312345p.F243Sc.728T>CSubstitution - Missense
ENST00000344936_v70p.N657Sc.1970A>GSubstitution - Missense
ESYT2ENSG00000117868ENST00000251527p.V197Vc.591G>ASubstitution - coding silent
UBA6ENSG00000033178ENST00000322244p.D147Gc.440A>GSubstitution - Missense
ENSG00000176349ENST00000318959p.N26Nc.78C>TSubstitution - coding silent
ELMO1ENSG00000155849ENST00000310758p.F455Yc.1364T>ASubstitution - Missense
NM_148169.1p.E181Ec.543G>ASubstitution - coding silent
DDR1ENSG00000204580ENST00000376575p.G221Gc.663C>TSubstitution - coding silent
PCDHAC2ENSG00000243232ENST00000289269p.R263Cc.787C>TSubstitution - Missense
SLC6A8ENSG00000130821ENST00000253122p.V270Mc.808G>ASubstitution - Missense
KIF20AENSG00000112984ENST00000394894p.L792Qc.2375T>ASubstitution - Missense
CLDN11ENSG00000013297ENST00000064724p.V207Ic.619G>ASubstitution - Missense
ENST00000576222_v68p.T623Mc.1868C>TSubstitution - Missense
ENST00000361316p.Q745Rc.2234A>GSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.E1228fs*6c.3682delGDeletion - Frameshift
SLC34A3ENSG00000198569ENST00000361134p.V407fs*186c.1215_1216insGInsertion - Frameshift
UNC13AENSG00000130477ENST00000428389p.I1517Vc.4549A>GSubstitution - Missense
TIMMDC1ENSG00000113845ENST00000494664p.T128Ic.383C>TSubstitution - Missense
PAXIP1ENSG00000157212ENST00000404141p.F100fs*31c.300delTDeletion - Frameshift
EIF2B5ENSG00000145191ENST00000273783p.A639Tc.1915G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.A2505Vc.7514C>TSubstitution - Missense
KIAA1328ENSG00000150477ENST00000280020p.A481Vc.1442C>TSubstitution - Missense
TEX10ENSG00000136891ENST00000535814p.G313Gc.939C>TSubstitution - coding silent
PPP6R2ENSG00000100239ENST00000216061p.T10Tc.30G>ASubstitution - coding silent
ATXN2LENSG00000168488ENST00000340394p.Q941fs*48c.2817delCDeletion - Frameshift
UBE3BENSG00000151148ENST00000280774p.?c.447+3_447+11delaacaaaaaaUnknown
PPP2R1BENSG00000137713ENST00000311129p.A2Ac.6G>ASubstitution - coding silent
CRTC3ENSG00000140577ENST00000268184p.L106fs*48c.312delCDeletion - Frameshift
SOCS1ENSG00000185338ENST00000332029p.K118Mc.353A>TSubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.A873Tc.2617G>ASubstitution - Missense
KAT5ENSG00000172977ENST00000341318p.V488Vc.1464C>TSubstitution - coding silent
CHST3ENSG00000122863ENST00000373115p.E169Dc.507G>TSubstitution - Missense
DLGAP3ENSG00000116544ENST00000373347p.A347fs*121c.1039delGDeletion - Frameshift
RBM20ENSG00000203867ENST00000369519p.S553*c.1658C>ASubstitution - Nonsense
TENM4ENSG00000149256ENST00000278550p.R1845Hc.5534G>ASubstitution - Missense
NM_005539.2p.V242Ic.724G>ASubstitution - Missense
POLGENSG00000140521ENST00000268124p.R627Wc.1879C>TSubstitution - Missense
HHIPL2ENSG00000143512ENST00000343410p.R284Cc.850C>TSubstitution - Missense
TAS2R8ENSG00000121314ENST00000240615p.G25*c.73G>TSubstitution - Nonsense
FICDENSG00000198855ENST00000552695p.F431fs*26c.1289delTDeletion - Frameshift
TPX2ENSG00000088325ENST00000300403p.V331Ac.992T>CSubstitution - Missense
ENST00000221204p.Q79Qc.237G>ASubstitution - coding silent
SCGNENSG00000079689ENST00000377961p.G224Vc.671G>TSubstitution - Missense
DYRK1AENSG00000157540ENST00000338785p.N151fs*12c.452_453insAInsertion - Frameshift
TMPRSS3ENSG00000160183ENST00000291532p.S124Sc.372G>ASubstitution - coding silent
SMOENSG00000128602ENST00000249373p.Q581*c.1741C>TSubstitution - Nonsense
EMC10ENSG00000161671ENST00000376918p.A134Vc.401C>TSubstitution - Missense
CD37ENSG00000104894ENST00000391859p.L74Lc.222G>ASubstitution - coding silent
SU_WNK2p.S1469Nc.4406G>ASubstitution - Missense
PAK3ENSG00000077264ENST00000446737p.R67Hc.200G>ASubstitution - Missense
CAMSAP3ENSG00000076826ENST00000160298p.S527Lc.1580C>TSubstitution - Missense
MYO1BENSG00000128641ENST00000339514p.L312Lc.934T>CSubstitution - coding silent
FOXA2ENSG00000125798ENST00000377115p.S17Ic.50G>TSubstitution - Missense
EXTL1ENSG00000158008ENST00000374280p.A421Tc.1261G>ASubstitution - Missense
DENND4AENSG00000174485ENST00000443035p.P85fs*29c.252delGDeletion - Frameshift
SEMA6DENSG00000137872ENST00000316364p.R254Rc.762C>TSubstitution - coding silent
ECHDC2ENSG00000121310ENST00000358358p.V109fs*12c.325_326insGInsertion - Frameshift
NFASCENSG00000163531ENST00000360049p.R50fs*5c.144delCDeletion - Frameshift
ALS2CLENSG00000178038ENST00000318962p.L373Lc.1119G>ASubstitution - coding silent
TROENSG00000067445ENST00000319167p.S693Nc.2078G>ASubstitution - Missense
ZC3H12BENSG00000102053ENST00000338957p.?c.533+4C>TUnknown
PIK3CBENSG00000051382ENST00000477593p.R604fs*29c.1803_1804insCInsertion - Frameshift
PRKD2ENSG00000105287ENST00000291281p.G367Gc.1101C>TSubstitution - coding silent
RELBENSG00000104856ENST00000221452p.H511Hc.1533C>TSubstitution - coding silent
PRPH2ENSG00000112619ENST00000230381p.L185Pc.554T>CSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.K1573Mc.4718A>TSubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.K1977fs*20c.5928_5929insGInsertion - Frameshift
SLC22A2ENSG00000112499ENST00000366953p.T460Ac.1378A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S1876Sc.5628C>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000316341p.A565Ac.1695C>TSubstitution - coding silent
SH3TC1ENSG00000125089ENST00000245105p.R1314Hc.3941G>ASubstitution - Missense
CXXC11ENSG00000188011ENST00000343216p.?c.159-8C>TUnknown
TTNENSG00000155657ENST00000342992p.T17031Ac.51091A>GSubstitution - Missense
TXNRD2ENSG00000184470ENST00000400521p.H135Hc.405C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.G7610*c.22828G>TSubstitution - Nonsense
DNAH8ENSG00000124721ENST00000449981p.H1776Hc.5328T>CSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.S4130Sc.12390C>TSubstitution - coding silent
FCER1GENSG00000158869ENST00000367992p.M1Ic.3G>ASubstitution - Missense
BBS5ENSG00000163093ENST00000295240p.V265Ic.793G>ASubstitution - Missense
ANGPTL2ENSG00000136859ENST00000373425p.A219fs*30c.654delCDeletion - Frameshift
SH2D3CENSG00000095370ENST00000314830p.V502Mc.1504G>ASubstitution - Missense
HMGCS1ENSG00000112972ENST00000325110p.D16Hc.46G>CSubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.S241Pc.721T>CSubstitution - Missense
C6orf136ENSG00000204564ENST00000293604p.H24Hc.72C>TSubstitution - coding silent
DPCR1ENSG00000168631ENST00000462446p.A409Tc.1225G>ASubstitution - Missense
ZNF292ENSG00000188994ENST00000369577p.R2545fs*4c.7626_7627insAInsertion - Frameshift
PHIPENSG00000146247ENST00000275034p.E1754Gc.5261A>GSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.P1442Lc.4325C>TSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.P1442Lc.4325C>TSubstitution - Missense
ATP7BENSG00000123191ENST00000242839p.E1081Dc.3243G>TSubstitution - Missense
ACACBENSG00000076555ENST00000377848p.I2092fs*5c.6268delGDeletion - Frameshift
ARID1AENSG00000117713ENST00000324856p.Q758fs*75c.2268delCDeletion - Frameshift
NM_005539.2p.N116fs*25c.342delADeletion - Frameshift
PHF20L1ENSG00000129292ENST00000395386p.V535fs*1c.1595delADeletion - Frameshift
ENST00000336239p.G482fs*44c.1445delGDeletion - Frameshift
ZNF7ENSG00000147789ENST00000325241p.L232fs*3c.685_686insAInsertion - Frameshift
COL27A1ENSG00000196739ENST00000356083p.P816fs*10c.2442delCDeletion - Frameshift
ARID1AENSG00000117713ENST00000324856p.Y551fs*72c.1650_1651insCInsertion - Frameshift
BUB1BENSG00000156970ENST00000287598p.P299Pc.897C>GSubstitution - coding silent
ZYG11BENSG00000162378ENST00000294353p.A322Vc.965C>TSubstitution - Missense
DLG2ENSG00000150672ENST00000418306p.M441Ic.1323G>ASubstitution - Missense
MOV10ENSG00000155363ENST00000357443p.R516Hc.1547G>ASubstitution - Missense
FAM102BENSG00000162636ENST00000370035p.?c.453-2A>TUnknown
KDM2BENSG00000089094ENST00000377071p.?c.1734+9C>TUnknown
KDM2BENSG00000089094ENST00000377069p.?c.1641+9C>TUnknown
TBX15ENSG00000092607ENST00000207157p.A483Vc.1448C>TSubstitution - Missense
MIIPENSG00000116691ENST00000235332p.V73Vc.219G>TSubstitution - coding silent
ENO4ENSG00000188316ENST00000341276p.Y587fs*3c.1751_1752insTInsertion - Frameshift
RNF31ENSG00000092098ENST00000324103p.R525Hc.1574G>ASubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.G127Gc.381A>GSubstitution - coding silent
ENST00000313194p.P86fs*70c.257delCDeletion - Frameshift
CEP290ENSG00000198707ENST00000552810p.E2216fs*10c.6645delADeletion - Frameshift
ANO9ENSG00000185101ENST00000332826p.R762Rc.2286G>ASubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.T2026Tc.6078G>ASubstitution - coding silent
DGKZENSG00000149091ENST00000421244p.V839Vc.2517G>TSubstitution - coding silent
PLCE1ENSG00000138193ENST00000260766p.Y1401Cc.4202A>GSubstitution - Missense
SMC1AENSG00000072501ENST00000322213p.V217Ic.649G>ASubstitution - Missense
ZBTB11ENSG00000066422ENST00000312938p.C771Cc.2313T>CSubstitution - coding silent
IRF8ENSG00000140968ENST00000268638p.G308Dc.923G>ASubstitution - Missense
RIOK3ENSG00000101782ENST00000339486p.E262fs*15c.779_780insAInsertion - Frameshift
BSNENSG00000164061ENST00000296452p.R867Cc.2599C>TSubstitution - Missense
ENST00000273600p.T14Tc.42C>TSubstitution - coding silent
BTN3A2ENSG00000186470ENST00000527422p.?c.917-13_929>19Unknown
ANKRD36ENSG00000135976ENST00000420699p.A438Tc.1312G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.K162fs*17c.485delADeletion - Frameshift
DNAH12ENSG00000174844ENST00000351747p.P2610Hc.7829C>ASubstitution - Missense
NUGGCENSG00000189233ENST00000413272p.V287Mc.859G>ASubstitution - Missense
EPB41L1ENSG00000088367ENST00000338074p.V695Mc.2083G>ASubstitution - Missense
MCM8ENSG00000125885ENST00000378896p.G831Dc.2492G>ASubstitution - Missense
CCNE1ENSG00000105173ENST00000262643p.?c.326+9C>TUnknown
ENST00000301415p.R680Hc.2039G>ASubstitution - Missense
SMYD4ENSG00000186532ENST00000305513p.L673Lc.2017C>TSubstitution - coding silent
WDR81ENSG00000167716ENST00000409644p.T1905Tc.5715G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.T823Sc.2467A>TSubstitution - Missense
GP1BAENSG00000185245ENST00000329125p.S130Sc.390G>ASubstitution - coding silent
ADCK4ENSG00000123815ENST00000324464p.R80*c.238C>TSubstitution - Nonsense
ZNF780AENSG00000197782ENST00000340963p.G519Ec.1556G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.R3119Hc.9356G>ASubstitution - Missense
ANKHD1ENSG00000131503ENST00000360839p.S2416Lc.7247C>TSubstitution - Missense
PCDHGA4ENSG00000262576ENST00000571252p.R282Wc.844C>TSubstitution - Missense
SMAD1ENSG00000170365ENST00000302085p.R80Wc.238C>TSubstitution - Missense
PITX1ENSG00000069011ENST00000265340p.V133Mc.397G>ASubstitution - Missense
NEIL2ENSG00000154328ENST00000455213p.P304Pc.912C>TSubstitution - coding silent
TRABDENSG00000170638ENST00000395827p.A42Tc.124G>ASubstitution - Missense
RLIMENSG00000131263ENST00000332687p.R611Rc.1833C>TSubstitution - coding silent
PPP5CENSG00000011485ENST00000012443p.K412Nc.1236G>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000308893p.D207Dc.621C>TSubstitution - coding silent
POM121CENSG00000135213ENST00000453279p.A326Pc.976G>CSubstitution - Missense
HEG1ENSG00000173706ENST00000311127p.E478Ec.1434A>GSubstitution - coding silent
DMDENSG00000198947ENST00000378707p.T695Ic.2084C>TSubstitution - Missense
CROTENSG00000005469ENST00000331536p.E216Ec.648G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.E366Vc.1097A>TSubstitution - Missense
ZNF705AENSG00000196946ENST00000402465p.C274Yc.821G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.F4486fs*7c.13458delTDeletion - Frameshift
MPRIPENSG00000133030ENST00000341712p.P353fs*30c.1052delCDeletion - Frameshift
SMCHD1ENSG00000101596ENST00000261598p.K680fs*3c.2035delADeletion - Frameshift
MED13ENSG00000108510ENST00000397786p.R471Cc.1411C>TSubstitution - Missense
OR4P4ENSG00000181927ENST00000314612p.F105fs*4c.309delTDeletion - Frameshift
ZBTB20ENSG00000181722ENST00000357258p.P619fs*43c.1856delCDeletion - Frameshift
RPL22ENSG00000116251ENST00000234875p.K15fs*5c.44delADeletion - Frameshift
PLECENSG00000178209ENST00000354589p.R4159Cc.12475C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.E366Vc.1097A>TSubstitution - Missense
RXRBENSG00000204231ENST00000544186p.R197Rc.589C>ASubstitution - coding silent
IFT172ENSG00000138002ENST00000416524p.G333Dc.998G>ASubstitution - Missense
CLEC16AENSG00000038532ENST00000409552p.L593fs*11c.1772delTDeletion - Frameshift
ENST00000204005_v70p.D1215Dc.3645C>TSubstitution - coding silent
ITGA6ENSG00000091409ENST00000264106p.G306Gc.918T>CSubstitution - coding silent
MCRS1ENSG00000187778ENST00000550165p.A138Vc.413C>TSubstitution - Missense
STRBPENSG00000165209ENST00000447404p.T58fs*7c.172delADeletion - Frameshift
PCNXENSG00000100731ENST00000304743p.S1909Pc.5725T>CSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.R2297Qc.6890G>ASubstitution - Missense
PRKCZENSG00000067606ENST00000378567p.?c.334+5G>AUnknown
NUBP2ENSG00000095906ENST00000262302p.I114Vc.340A>GSubstitution - Missense
HMBSENSG00000256269ENST00000278715p.A9Vc.26C>TSubstitution - Missense
ENSG00000184566ENST00000330381p.M11Vc.31A>GSubstitution - Missense
KDM2BENSG00000089094ENST00000377069p.K763Kc.2289G>ASubstitution - coding silent
WDR65ENSG00000243710ENST00000528956p.R317Hc.950G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.H3126Yc.9376C>TSubstitution - Missense
CLCNKAENSG00000186510ENST00000331433p.P630Pc.1890A>GSubstitution - coding silent
SLCO1C1ENSG00000139155ENST00000381552p.L207fs*28c.618delTDeletion - Frameshift
SLCO1C1ENSG00000139155ENST00000266509p.L207fs*28c.618delTDeletion - Frameshift
NM_024779.3p.S229Sc.687C>TSubstitution - coding silent
SLC37A2ENSG00000134955ENST00000308074p.A406Tc.1216G>ASubstitution - Missense
KIF20BENSG00000138182ENST00000260753p.Q1574Rc.4721A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.?c.6533-8G>AUnknown
MYL6ENSG00000092841ENST00000550697p.?c.175_176-2del244Unknown
SU_KSR1p.A390Tc.1168G>ASubstitution - Missense
MTERFD2ENSG00000122085ENST00000391980p.R270Rc.810C>TSubstitution - coding silent
THAP4ENSG00000176946ENST00000407315p.S318Sc.954C>TSubstitution - coding silent
APMAPENSG00000101474ENST00000451442p.P176Hc.527C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.Y23205Yc.69615C>TSubstitution - coding silent
ENST00000356127p.T29477Mc.88430C>TSubstitution - Missense
ABRENSG00000159842ENST00000302538p.D225Yc.673G>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000398722p.H1115Hc.3345C>TSubstitution - coding silent
ADCK2ENSG00000133597ENST00000072869p.R187Rc.561G>ASubstitution - coding silent
ADCK2ENSG00000133597ENST00000072869p.A219Tc.655G>ASubstitution - Missense
ATP8A1ENSG00000124406ENST00000264449p.Y970Yc.2910C>TSubstitution - coding silent
BACH1ENSG00000156273ENST00000399921p.N616Sc.1847A>GSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.?c.1780-1G>AUnknown
CCL19ENSG00000172724ENST00000311925p.A59Vc.176C>TSubstitution - Missense
KIAA1161ENSG00000164976ENST00000297625p.R577Wc.1729C>TSubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.L392Vc.1174T>GSubstitution - Missense
TMEM74BENSG00000125895ENST00000381894p.R148Qc.443G>ASubstitution - Missense
PIGKENSG00000142892ENST00000370812p.?c.1071+2T>GUnknown
ENST00000234668p.M390Rc.1169T>GSubstitution - Missense
SPATA6ENSG00000132122ENST00000371847p.R124Sc.370C>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.H352Hc.1056C>TSubstitution - coding silent
PDE1CENSG00000154678ENST00000396184p.K479Rc.1436A>GSubstitution - Missense
OXNAD1ENSG00000154814ENST00000285083p.K45Rc.134A>GSubstitution - Missense
SLITRK3ENSG00000121871ENST00000241274p.D565Nc.1693G>ASubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.?c.2413+4T>CUnknown
LRPPRCENSG00000138095ENST00000260665p.L687fs*13c.2058_2059delATDeletion - Frameshift
GPR75-ASB3ENSG00000115239ENST00000263634p.T108Ic.323C>TSubstitution - Missense
DCHS2ENSG00000197410ENST00000443500p.V176Ic.526G>ASubstitution - Missense
PHF3ENSG00000118482ENST00000262043p.R971Wc.2911C>TSubstitution - Missense
GCATENSG00000100116ENST00000248924p.C169Fc.506G>TSubstitution - Missense
UNC13AENSG00000130477ENST00000428389p.D371Nc.1111G>ASubstitution - Missense
MAML3ENSG00000196782ENST00000509479p.R827Qc.2480G>ASubstitution - Missense
ZC3H4ENSG00000130749ENST00000253048p.R379Cc.1135C>TSubstitution - Missense
MKRN2ENSG00000075975ENST00000170447p.T56Mc.167C>TSubstitution - Missense
TAGAPENSG00000164691ENST00000367066p.L21Vc.61C>GSubstitution - Missense
TRPC3ENSG00000138741ENST00000379645p.D226Gc.677A>GSubstitution - Missense
THAP11ENSG00000168286ENST00000303596p.Q146Qc.438G>ASubstitution - coding silent
SH3TC1ENSG00000125089ENST00000245105p.S370Sc.1110C>TSubstitution - coding silent
LARP4BENSG00000107929ENST00000316157p.T163fs*47c.487delADeletion - Frameshift
SUN1ENSG00000164828ENST00000401592p.V568Mc.1702G>ASubstitution - Missense
TSPAN7ENSG00000156298ENST00000378482p.S173fs*4c.510delCDeletion - Frameshift
PLA2G4EENSG00000188089ENST00000413860p.A39fs*14c.108_109delTGDeletion - Frameshift
LRP2ENSG00000081479ENST00000263816p.P4380fs*46c.13139delCDeletion - Frameshift
PLCE1ENSG00000138193ENST00000260766p.T1412Mc.4235C>TSubstitution - Missense
NIT1ENSG00000158793ENST00000368007p.T2Ac.4A>GSubstitution - Missense
FBXL7ENSG00000183580ENST00000504595p.R317Cc.949C>TSubstitution - Missense
BBS9ENSG00000122507ENST00000354265p.?c.1432+6T>GUnknown
TMEM239ENSG00000198326ENST00000554164p.D49Dc.147C>TSubstitution - coding silent
CCDC91ENSG00000123106ENST00000306172p.?c.765+6A>GUnknown
OR1N1ENSG00000171505ENST00000304880p.Y121Yc.363T>CSubstitution - coding silent
GOLGA2ENSG00000167110ENST00000421699p.M331Ic.993G>ASubstitution - Missense
UIMC1ENSG00000087206ENST00000377227p.W369*c.1107G>ASubstitution - Nonsense
RXRBENSG00000204231ENST00000374680p.R387Rc.1159C>ASubstitution - coding silent
ANO6ENSG00000177119ENST00000320560p.F62fs*12c.181delTDeletion - Frameshift
RYR2ENSG00000198626ENST00000366574p.?c.8896-9T>CUnknown
ADAMTSL3ENSG00000156218ENST00000286744p.T352Ic.1055C>TSubstitution - Missense
FANCIENSG00000140525ENST00000300027p.G748Gc.2244A>GSubstitution - coding silent
PLCE1ENSG00000138193ENST00000371375p.Y1093Cc.3278A>GSubstitution - Missense
MMP19ENSG00000123342ENST00000322569p.V278_T280delVPTc.833_841delTGCCCACAGDeletion - In frame
PKMENSG00000067225ENST00000335181p.A413Tc.1237G>ASubstitution - Missense
ISLR2ENSG00000167178ENST00000361742p.W116Lc.347G>TSubstitution - Missense
INTS6ENSG00000102786ENST00000311234p.S332Sc.996A>GSubstitution - coding silent
LMNB2ENSG00000176619ENST00000582871p.R284Hc.851G>ASubstitution - Missense
DMRT3ENSG00000064218ENST00000190165p.S85Ic.254G>TSubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.K978fs*12c.2930delADeletion - Frameshift
TDRD15ENSG00000218819ENST00000405799p.L1082fs*7c.3240delTDeletion - Frameshift
MCM4ENSG00000104738ENST00000523944p.T630Tc.1890C>ASubstitution - coding silent
ADAMTS18ENSG00000140873ENST00000282849p.E811Gc.2432A>GSubstitution - Missense
NM_006293p.N222Hc.664A>CSubstitution - Missense
PTBP2ENSG00000117569ENST00000426398p.K263fs*39c.786delADeletion - Frameshift
CATSPERBENSG00000133962ENST00000256343p.R403fs*40c.1206delTDeletion - Frameshift
SYNE3ENSG00000176438ENST00000334258p.T668Tc.2004G>ASubstitution - coding silent
NRXN3ENSG00000021645ENST00000335750p.R489Hc.1466G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.H322Hc.966C>TSubstitution - coding silent
LAG3ENSG00000089692ENST00000203629p.?c.1300+7G>TUnknown
ARHGEF10LENSG00000074964ENST00000361221p.H142Hc.426T>CSubstitution - coding silent
SPAG6ENSG00000077327ENST00000376624p.T18Ac.52A>GSubstitution - Missense
ENST00000375140p.P114fs*4c.341delCDeletion - Frameshift
POU2AF1ENSG00000110777ENST00000393067p.S229Sc.687G>ASubstitution - coding silent
SLC18A3ENSG00000187714ENST00000374115p.A350Tc.1048G>ASubstitution - Missense
NM_032590.2p.?c.651+9C>TUnknown
NBEAENSG00000172915ENST00000310336p.E2328Ec.6984A>GSubstitution - coding silent
ENST00000450802_v68p.G501fs*79c.1498delGDeletion - Frameshift
DRD3ENSG00000151577ENST00000383673p.G313Gc.939G>TSubstitution - coding silent
FNDC1ENSG00000164694ENST00000297267p.S1595Nc.4784G>ASubstitution - Missense
FABP2ENSG00000145384ENST00000274024p.S5Nc.14G>ASubstitution - Missense
METAP1ENSG00000164024ENST00000296411p.D365Hc.1093G>CSubstitution - Missense
TACR3ENSG00000169836ENST00000304883p.V251Vc.753C>TSubstitution - coding silent
LOXHD1ENSG00000167210ENST00000536736p.H1393Hc.4179C>TSubstitution - coding silent
RAB11FIP3ENSG00000090565ENST00000262305p.M746Lc.2236A>CSubstitution - Missense
GEMENSG00000164949ENST00000396194p.R237*c.709C>TSubstitution - Nonsense
GABBR2ENSG00000136928ENST00000259455p.T824Ic.2471C>TSubstitution - Missense
NRP2ENSG00000118257ENST00000540841p.R263Cc.787C>TSubstitution - Missense
ABCC1ENSG00000103222ENST00000399408p.A1125Tc.3373G>ASubstitution - Missense
KRT80ENSG00000167767ENST00000313234p.?c.667-5G>AUnknown
NM_207305.1p.G387Rc.1159G>ASubstitution - Missense
RCAN2ENSG00000172348ENST00000371374p.F78Sc.233T>CSubstitution - Missense
NM_133170.2p.Q425*c.1273C>TSubstitution - Nonsense
ZNF780AENSG00000197782ENST00000455521p.G554Ec.1661G>ASubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000392006p.R690Wc.2068C>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.E221Ec.663G>ASubstitution - coding silent
FAM115CENSG00000170379ENST00000409703p.L717fs*3c.2149_2150insCInsertion - Frameshift
AP4M1ENSG00000221838ENST00000359593p.G277Gc.831C>TSubstitution - coding silent
KLF10ENSG00000155090ENST00000285407p.G315Gc.945C>TSubstitution - coding silent
AGAP3ENSG00000133612ENST00000397238p.A142Vc.425C>TSubstitution - Missense
PCDHB11ENSG00000197479ENST00000354757p.L431Lc.1293G>ASubstitution - coding silent
PCDHB12ENSG00000120328ENST00000239450p.A450Tc.1348G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.M3833Lc.11497A>CSubstitution - Missense
ANKHD1ENSG00000131503ENST00000297183p.S2416Lc.7247C>TSubstitution - Missense
ASIC2ENSG00000108684ENST00000225823p.L162delLc.485_487delTGCDeletion - In frame
IMPG1ENSG00000112706ENST00000369950p.K764fs*10c.2291delADeletion - Frameshift
KIF18BENSG00000186185ENST00000339151p.P396Sc.1186C>TSubstitution - Missense
TBC1D19ENSG00000109680ENST00000264866p.?c.1084+1G>AUnknown
ITPR1ENSG00000150995ENST00000302640p.I815Vc.2443A>GSubstitution - Missense
CSPG5ENSG00000114646ENST00000383738p.H500fs*31c.1498delCDeletion - Frameshift
TAF1ENSG00000147133ENST00000449580p.?c.5163+4A>GUnknown
POU3F4ENSG00000196767ENST00000373200p.L222Lc.666G>CSubstitution - coding silent
PTPN14ENSG00000152104ENST00000366956p.H262Hc.786T>CSubstitution - coding silent
RASSF5ENSG00000136653ENST00000355294p.S294Tc.881G>CSubstitution - Missense
TRIM13ENSG00000204977ENST00000356017p.V96Ic.286G>ASubstitution - Missense
INPP5AENSG00000068383ENST00000368594p.N116fs*25c.342delADeletion - Frameshift
CENPHENSG00000153044ENST00000283006p.N115fs*16c.337delADeletion - Frameshift
ZNF607ENSG00000198182ENST00000355202p.A625Vc.1874C>TSubstitution - Missense
NBPF9ENSG00000168614ENST00000338347p.N531Yc.1591A>TSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.P1434Sc.4300C>TSubstitution - Missense
NOL7ENSG00000225921ENST00000451315p.K238fs*16c.707delADeletion - Frameshift
RNF43ENSG00000108375ENST00000407977p.G659fs*41c.1976delGDeletion - Frameshift
PCLOENSG00000186472ENST00000423517p.P305Hc.914C>ASubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.L1057Ic.3169C>ASubstitution - Missense
KIF18BENSG00000186185ENST00000590129p.P405Sc.1213C>TSubstitution - Missense
CEP68ENSG00000011523ENST00000537589p.F174Fc.522C>TSubstitution - coding silent
USP1ENSG00000162607ENST00000371146p.H256Yc.766C>TSubstitution - Missense
FMN1ENSG00000248905ENST00000334528p.P706Pc.2118A>GSubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.E4090Ac.12269A>CSubstitution - Missense
SNX22ENSG00000157734ENST00000325881p.?c.360-2A>GUnknown
SLC6A13ENSG00000010379ENST00000343164p.H34Nc.100C>ASubstitution - Missense
NFASCENSG00000163531ENST00000339876p.R56fs*5c.162delCDeletion - Frameshift
MYO1EENSG00000157483ENST00000288235p.V603Vc.1809A>GSubstitution - coding silent
C2CD2LENSG00000172375ENST00000336702p.L31Lc.93G>ASubstitution - coding silent
IQGAP1ENSG00000140575ENST00000268182p.S648Sc.1944C>ASubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.P1543Tc.4627C>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.T4292fs*15c.12874_12875insAInsertion - Frameshift
HK1ENSG00000156515ENST00000359426p.D730Dc.2190C>TSubstitution - coding silent
COL2A1ENSG00000139219ENST00000337299p.?c.609+7G>AUnknown
UPF2ENSG00000151461ENST00000356352p.E1037delEc.3110_3112delAAGDeletion - In frame
OR10A5ENSG00000166363ENST00000299454p.A194Vc.581C>TSubstitution - Missense
RBM14ENSG00000239306ENST00000310137p.L21Lc.63C>TSubstitution - coding silent
CCND1ENSG00000110092ENST00000227507p.L119fs*1c.351delCDeletion - Frameshift
ZFHX2ENSG00000136367ENST00000419474p.P217Pc.651C>TSubstitution - coding silent
ZNF268ENSG00000090612ENST00000228289p.S21Sc.63A>GSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.S4318Pc.12952T>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A2286Tc.6856G>ASubstitution - Missense
DTX2ENSG00000091073ENST00000324432p.V172Mc.514G>ASubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.R1586Sc.4758G>TSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.I3732fs*9c.11189delADeletion - Frameshift
ANKRD28ENSG00000206560ENST00000383777p.L376fs*10c.1124_1125insTInsertion - Frameshift
CDH11ENSG00000140937ENST00000394156p.S641fs*22c.1920_1921insAInsertion - Frameshift
IQSEC2ENSG00000124313ENST00000375365p.R940Rc.2818C>ASubstitution - coding silent
CACNA1FENSG00000102001ENST00000376265p.R932Cc.2794C>TSubstitution - Missense
ENST00000362023p.L129Ic.385C>ASubstitution - Missense
KIF13AENSG00000137177ENST00000378814p.V1103fs*23c.3306delADeletion - Frameshift
ATP8A1ENSG00000124406ENST00000381668p.Y985Yc.2955C>TSubstitution - coding silent
ALOX12BENSG00000179477ENST00000319144p.A397Tc.1189G>ASubstitution - Missense
TMEM67ENSG00000164953ENST00000453321p.E909Kc.2725G>ASubstitution - Missense
KLK6ENSG00000167755ENST00000310157p.A61Ac.183C>ASubstitution - coding silent
EVPLENSG00000167880ENST00000301607p.Q186*c.556C>TSubstitution - Nonsense
WDR81ENSG00000167716ENST00000309182p.T854Tc.2562G>ASubstitution - coding silent
SLC25A53ENSG00000176274ENST00000357421p.V236Ac.707T>CSubstitution - Missense
PAK3ENSG00000077264ENST00000360648p.A546Vc.1637C>TSubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.T1223Ic.3668C>TSubstitution - Missense
BCL9LENSG00000186174ENST00000334801p.G53Gc.159C>TSubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.A1195Vc.3584C>TSubstitution - Missense
MTSS1ENSG00000170873ENST00000518547p.S223Lc.668C>TSubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.?c.1577+4G>TUnknown
UTS2BENSG00000188958ENST00000340524p.?c.203-10T>CUnknown
SATB1ENSG00000182568ENST00000338745p.L40Lc.120A>GSubstitution - coding silent
CENPPENSG00000188312ENST00000375587p.K83Kc.249G>ASubstitution - coding silent
FAM115CENSG00000170379ENST00000357344p.L821fs*3c.2461_2462insCInsertion - Frameshift
CTTNBP2ENSG00000077063ENST00000160373p.D1302Dc.3906T>CSubstitution - coding silent
DDR1ENSG00000204580ENST00000418800p.G221Gc.663C>TSubstitution - coding silent
ABCB8ENSG00000197150ENST00000358849p.G186Dc.557G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.T2983Mc.8948C>TSubstitution - Missense
ASB10ENSG00000146926ENST00000377867p.S304Sc.912C>TSubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.P678fs*10c.2027delCDeletion - Frameshift
MED27ENSG00000160563ENST00000292035p.V238Lc.712G>TSubstitution - Missense
PREPLENSG00000138078ENST00000260648p.?c.410-3C>TUnknown
SOGA3ENSG00000214338ENST00000368268p.T656Rc.1967C>GSubstitution - Missense
ANKRD32ENSG00000133302ENST00000265140p.K775fs*2c.2319delADeletion - Frameshift
POU3F4ENSG00000196767ENST00000373200p.L222Lc.666G>CSubstitution - coding silent
MAP1SENSG00000130479ENST00000324096p.G234fs*57c.697delGDeletion - Frameshift
PARP9ENSG00000138496ENST00000360356p.R581Gc.1741A>GSubstitution - Missense
CYB5R3ENSG00000100243ENST00000361740p.R265Hc.794G>ASubstitution - Missense
PNPT1ENSG00000138035ENST00000447944p.A84Ac.252G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.P305Hc.914C>ASubstitution - Missense
RAPH1ENSG00000173166ENST00000319170p.P766fs*157c.2294_2295insCInsertion - Frameshift
EFCAB5ENSG00000176927ENST00000394835p.K150fs*17c.443delADeletion - Frameshift
OTX2ENSG00000165588ENST00000339475p.R44fs*15c.130delCDeletion - Frameshift
TBC1D8BENSG00000133138ENST00000310452p.F291fs*9c.868delTDeletion - Frameshift
MMP3ENSG00000149968ENST00000299855p.I64fs*12c.190delADeletion - Frameshift
ATXN1ENSG00000124788ENST00000244769p.P703Pc.2109C>TSubstitution - coding silent
PTPRTENSG00000196090ENST00000373184p.Q425*c.1273C>TSubstitution - Nonsense
RBFOX1ENSG00000078328ENST00000547372p.A139Ac.417A>GSubstitution - coding silent
TMPRSS3ENSG00000160183ENST00000398397p.S124Sc.372G>ASubstitution - coding silent
NLRX1ENSG00000160703ENST00000409265p.R833Hc.2498G>ASubstitution - Missense
UPK2ENSG00000110375ENST00000264031p.C51fs*10c.145delCDeletion - Frameshift
CGNENSG00000143375ENST00000271636p.S238Nc.713G>ASubstitution - Missense
CNGA4ENSG00000132259ENST00000379936p.E551Kc.1651G>ASubstitution - Missense
ZBTB17ENSG00000116809ENST00000375733p.A682Ac.2046G>ASubstitution - coding silent
ENST00000373082p.L264Lc.790C>TSubstitution - coding silent
USP6NLENSG00000148429ENST00000277575p.T314Ic.941C>TSubstitution - Missense
BRF1ENSG00000185024ENST00000440513p.R345Rc.1035C>TSubstitution - coding silent
PSME2ENSG00000100911ENST00000216802p.I66Tc.197T>CSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.Q5959Qc.17877G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.G6488Gc.19464C>TSubstitution - coding silent
HTR7ENSG00000148680ENST00000371721p.A97Ac.291G>ASubstitution - coding silent
ENST00000412131p.S1545Nc.4634G>ASubstitution - Missense
SVILENSG00000197321ENST00000355867p.?c.827+5G>AUnknown
PALMDENSG00000099260ENST00000263174p.S354Sc.1062G>ASubstitution - coding silent
PLCL1ENSG00000115896ENST00000428675p.I835Tc.2504T>CSubstitution - Missense
PKNOX1ENSG00000160199ENST00000291547p.P214Pc.642T>CSubstitution - coding silent
SEBOX,VTNENSG00000109072ENST00000431468p.S4fs*97c.9delGDeletion - Frameshift
ERC2ENSG00000187672ENST00000288221p.?c.1780-1G>AUnknown
SLC7A13ENSG00000164893ENST00000419776p.S126fs*20c.372delTDeletion - Frameshift
APCDD1LENSG00000198768ENST00000371149p.G383Gc.1149G>TSubstitution - coding silent
ENST00000300671p.?c.6526+5C>TUnknown
ZNF510ENSG00000081386ENST00000375231p.?c.70+6C>TUnknown
RAB40ALENSG00000102128ENST00000218249p.G48Gc.144A>GSubstitution - coding silent
PAK3ENSG00000077264ENST00000360648p.R67Hc.200G>ASubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.G1248*c.3742G>TSubstitution - Nonsense
CHD7ENSG00000171316ENST00000423902p.R2319Hc.6956G>ASubstitution - Missense
CD93ENSG00000125810ENST00000246006p.F276Fc.828T>CSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.T823Sc.2467A>TSubstitution - Missense
CREB1ENSG00000118260ENST00000432329p.A7Ac.21C>TSubstitution - coding silent
ENST00000305326p.C120Yc.359G>ASubstitution - Missense
OVOL2ENSG00000125850ENST00000278780p.T30Tc.90C>ASubstitution - coding silent
MBTPS1ENSG00000140943ENST00000343411p.P748Pc.2244G>ASubstitution - coding silent
SYDE2ENSG00000097096ENST00000341460p.M468Rc.1403T>GSubstitution - Missense
DISP2ENSG00000140323ENST00000267889p.R1247Qc.3740G>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000346562p.M650Vc.1948A>GSubstitution - Missense
RORAENSG00000069667ENST00000309157p.K433fs*7c.1297_1300delAAGADeletion - Frameshift
ARHGEF10LENSG00000074964ENST00000375408p.V192Mc.574G>ASubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.S205Cc.614C>GSubstitution - Missense
ENST00000307445p.Q86Qc.258G>ASubstitution - coding silent
FBXO38ENSG00000145868ENST00000340253p.R436Qc.1307G>ASubstitution - Missense
GRNENSG00000030582ENST00000053867p.F25Lc.73T>CSubstitution - Missense
PTP4A1ENSG00000112245ENST00000370651p.L108Ic.322C>ASubstitution - Missense
P4HTMENSG00000178467ENST00000343546p.L416fs*28c.1246_1247insCInsertion - Frameshift
CNTLNENSG00000044459ENST00000380647p.N397Nc.1191T>CSubstitution - coding silent
NME9ENSG00000181322ENST00000317876p.V109Mc.325G>ASubstitution - Missense
PPP5CENSG00000011485ENST00000012443p.L116Lc.346C>TSubstitution - coding silent
DHX34ENSG00000134815ENST00000328771p.C57Yc.170G>ASubstitution - Missense
PCOLCEENSG00000106333ENST00000223061p.M392fs*1c.1167delCDeletion - Frameshift
MPP6ENSG00000105926ENST00000396475p.T489Ac.1465A>GSubstitution - Missense
GCC2ENSG00000135968ENST00000309863p.Q1534fs*7c.4595_4596delACDeletion - Frameshift
NLRP4ENSG00000160505ENST00000301295p.D987Gc.2960A>GSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.R57Wc.169C>TSubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.K127fs*6c.375delADeletion - Frameshift
INPPL1ENSG00000165458ENST00000298229p.R1156fs*46c.3460delCDeletion - Frameshift
TM4SF20ENSG00000168955ENST00000304568p.G213Sc.637G>ASubstitution - Missense
NAA35ENSG00000135040ENST00000361671p.T118Mc.353C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000361724p.E637*c.1909G>TSubstitution - Nonsense
MUC12ENSG00000205277ENST00000379442p.P680Hc.2039C>ASubstitution - Missense
NFASCENSG00000163531ENST00000367172p.P165fs*12c.489delCDeletion - Frameshift
ENST00000451873p.N112fs*25c.330delADeletion - Frameshift
UBE3BENSG00000151148ENST00000540230p.?c.447+3_447+11delaacaaaaaaUnknown
MPRIPENSG00000133030ENST00000395811p.P353fs*30c.1052delCDeletion - Frameshift
UNC13AENSG00000130477ENST00000252773p.I1429Vc.4285A>GSubstitution - Missense
WIPF1ENSG00000115935ENST00000272746p.P265Pc.795T>GSubstitution - coding silent
TOMM40ENSG00000130204ENST00000592434p.D191Dc.573C>TSubstitution - coding silent
AGBL4ENSG00000186094ENST00000416121p.P141Hc.422C>ASubstitution - Missense
ACAP2ENSG00000114331ENST00000326793p.S601Sc.1803G>ASubstitution - coding silent
ISL1ENSG00000016082ENST00000230658p.R183Rc.549C>TSubstitution - coding silent
PDE1CENSG00000154678ENST00000396191p.K479Rc.1436A>GSubstitution - Missense
NFASCENSG00000163531ENST00000403080p.P165fs*12c.489delCDeletion - Frameshift
SWT1ENSG00000116668ENST00000367501p.H451Nc.1351C>ASubstitution - Missense
SNX27ENSG00000143376ENST00000368838p.R11fs*4c.20delTDeletion - Frameshift
PIK3C2AENSG00000011405ENST00000265970p.G789Dc.2366G>ASubstitution - Missense
CTBP2ENSG00000175029ENST00000309035p.S317Sc.951C>ASubstitution - coding silent
ARNT2ENSG00000172379ENST00000303329p.A109Ac.327C>TSubstitution - coding silent
AQP5ENSG00000161798ENST00000293599p.Y243Cc.728A>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.G4397Vc.13190G>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.A2017Vc.6050C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.?c.6236-8G>AUnknown
OBSCNENSG00000154358ENST00000284548p.?c.5684-8G>AUnknown
ZSWIM8ENSG00000214655ENST00000398706p.S1550Nc.4649G>ASubstitution - Missense
MYL6ENSG00000092841ENST00000547649p.?c.3+1_32-4>25Unknown
WBP4ENSG00000120688ENST00000379487p.?c.262+3_262+7delaaaaaUnknown
HSPG2ENSG00000142798ENST00000374695p.G1970Gc.5910C>TSubstitution - coding silent
KSR1ENSG00000141068ENST00000319524p.A390Tc.1168G>ASubstitution - Missense
BBXENSG00000114439ENST00000325805p.K452fs*49c.1350delADeletion - Frameshift
ITGA6ENSG00000091409ENST00000264107p.G267Gc.801T>CSubstitution - coding silent
HOXD8ENSG00000175879ENST00000313173p.P110fs*67c.323delCDeletion - Frameshift
NM_003319p.Y23013Yc.69039C>TSubstitution - coding silent
C18orf25ENSG00000152242ENST00000282059p.E298Ec.894G>ASubstitution - coding silent
C7orf49ENSG00000122783ENST00000393114p.M56Ic.168G>ASubstitution - Missense
QARSENSG00000172053ENST00000306125p.A335Vc.1004C>TSubstitution - Missense
C16orf71ENSG00000166246ENST00000299320p.R297Cc.889C>TSubstitution - Missense
DLGAP1ENSG00000170579ENST00000534970p.D218Dc.654C>TSubstitution - coding silent
PTPRGENSG00000144724ENST00000474889p.Y1205Yc.3615C>TSubstitution - coding silent
CD274ENSG00000120217ENST00000381577p.A97Vc.290C>TSubstitution - Missense
TRMT6ENSG00000089195ENST00000203001p.S455Sc.1365C>TSubstitution - coding silent
ENST00000391849p.V216Mc.646G>ASubstitution - Missense
TRPV2ENSG00000187688ENST00000338560p.V630Mc.1888G>ASubstitution - Missense
FRMD6ENSG00000139926ENST00000344768p.R380Cc.1138C>TSubstitution - Missense
STAG3ENSG00000066923ENST00000426455p.A505Vc.1514C>TSubstitution - Missense
ENST00000421974_v68p.S167Nc.500G>ASubstitution - Missense
LRFN3ENSG00000126243ENST00000246529p.T595_P596delTPc.1774_1779delCCCACGDeletion - In frame
KAT2AENSG00000108773ENST00000225916p.N606Nc.1818C>TSubstitution - coding silent
SLC34A2ENSG00000157765ENST00000382051p.A651Vc.1952C>TSubstitution - Missense
SYTL4ENSG00000102362ENST00000372989p.F452fs*52c.1356delTDeletion - Frameshift
MTMR8ENSG00000102043ENST00000374852p.S458Yc.1373C>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000263710p.S1232fs*1c.3685_3686insGInsertion - Frameshift
CLASP1ENSG00000074054ENST00000397587p.?c.1936+6C>TUnknown
CNTNAP5ENSG00000155052ENST00000431078p.?c.918+10T>CUnknown
PCLOENSG00000186472ENST00000333891p.P1282Pc.3846A>GSubstitution - coding silent
CXorf58ENSG00000165182ENST00000379211p.T313Tc.939T>CSubstitution - coding silent
ADGBENSG00000118492ENST00000397944p.N600Kc.1800C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.E366Vc.1097A>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.V1350Mc.4048G>ASubstitution - Missense
ZNF805ENSG00000204524ENST00000414468p.R223Mc.668G>TSubstitution - Missense
TTC28ENSG00000100154ENST00000397906p.?c.5577+10A>GUnknown
CENPBD1ENSG00000177946ENST00000314994p.A9Ec.26C>ASubstitution - Missense
SLC24A3ENSG00000185052ENST00000328041p.K341fs*11c.1015delCDeletion - Frameshift
ENST00000414155_v68p.V69Mc.205G>ASubstitution - Missense
TBC1D8BENSG00000133138ENST00000357242p.F291fs*9c.868delTDeletion - Frameshift
FCER1GENSG00000158869ENST00000289902p.M1Ic.3G>ASubstitution - Missense
ABHD4ENSG00000100439ENST00000428304p.R278*c.832C>TSubstitution - Nonsense
NM_005056.1p.R1157Hc.3470G>ASubstitution - Missense
NSMAFENSG00000035681ENST00000038176p.R640Hc.1919G>ASubstitution - Missense
PHF2ENSG00000197724ENST00000359246p.K492fs*6c.1468delADeletion - Frameshift
VGLL4ENSG00000144560ENST00000273038p.R22Cc.64C>TSubstitution - Missense
ABCB8ENSG00000197150ENST00000356058p.G223Dc.668G>ASubstitution - Missense
PAQR3ENSG00000163291ENST00000380645p.A163Tc.487G>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000325233p.S45Rc.135C>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000581527p.D506Dc.1518C>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000541864p.A534Ac.1602C>TSubstitution - coding silent
RGPD4ENSG00000196862ENST00000354986p.V1059fs*7c.3170delADeletion - Frameshift
IMPG1ENSG00000112706ENST00000369952p.K125fs*10c.374delADeletion - Frameshift
ZNF131ENSG00000172262ENST00000399534p.I327fs*45c.973delADeletion - Frameshift
NFASCENSG00000163531ENST00000367172p.R436Lc.1307G>TSubstitution - Missense
PODNENSG00000174348ENST00000371500p.L145Fc.433C>TSubstitution - Missense
CLCNKBENSG00000184908ENST00000375667p.L218Lc.654G>TSubstitution - coding silent
RC3H2ENSG00000056586ENST00000423239p.R340Qc.1019G>ASubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.H901fs*4c.2701_2702insCInsertion - Frameshift
FAM131AENSG00000175182ENST00000383847p.D251Nc.751G>ASubstitution - Missense
ENST00000371200p.N42fs*2c.125_126insAInsertion - Frameshift
SUPT3HENSG00000196284ENST00000371459p.C317Cc.951C>TSubstitution - coding silent
HNRNPLENSG00000104824ENST00000388749p.P228Pc.684C>ASubstitution - coding silent
ANO6ENSG00000177119ENST00000425752p.F62fs*12c.181delTDeletion - Frameshift
PTPRCAPENSG00000213402ENST00000326294p.A182Ac.546C>ASubstitution - coding silent
OR10A4ENSG00000170782ENST00000379829p.V220Vc.660C>TSubstitution - coding silent
DUPD1ENSG00000188716ENST00000338487p.R151Hc.452G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.G1458*c.4372G>TSubstitution - Nonsense
RCOR3ENSG00000117625ENST00000367005p.A406Vc.1217C>TSubstitution - Missense
EPC1ENSG00000120616ENST00000263062p.A244Vc.731C>TSubstitution - Missense
UBE3BENSG00000151148ENST00000434735p.?c.447+3_447+11delaacaaaaaaUnknown
JAK1ENSG00000162434ENST00000342505p.K860fs*16c.2580delADeletion - Frameshift
ENST00000397266p.P721fs*>61c.2162delCDeletion - Frameshift
NAGKENSG00000124357ENST00000244204p.H179Rc.536A>GSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.P1852fs*46c.5549_5550delCCDeletion - Frameshift
LASP1ENSG00000002834ENST00000318008p.A66Vc.197C>TSubstitution - Missense
NM_020777.1p.V702Ic.2104G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000295246p.K332fs*17c.995delADeletion - Frameshift
TRPM3ENSG00000083067ENST00000377110p.R1366Qc.4097G>ASubstitution - Missense
MAMDC2ENSG00000165072ENST00000377182p.K658Ec.1972A>GSubstitution - Missense
ZNF507ENSG00000168813ENST00000355898p.G120Vc.359G>TSubstitution - Missense
NRP2ENSG00000118257ENST00000272849p.R263Cc.787C>TSubstitution - Missense
SP6ENSG00000189120ENST00000342234p.G114Gc.342C>TSubstitution - coding silent
COL24A1ENSG00000171502ENST00000370571p.Q920Rc.2759A>GSubstitution - Missense
SMPDL3BENSG00000130768ENST00000373888p.I154Rc.461T>GSubstitution - Missense
TMCO5AENSG00000166069ENST00000319669p.K215fs*25c.641delADeletion - Frameshift
XM_031689.7p.A1983Dc.5948C>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.D6280Nc.18838G>ASubstitution - Missense
NBPF9ENSG00000168614ENST00000440491p.S604Sc.1812A>TSubstitution - coding silent
VIMENSG00000026025ENST00000544301p.R273Cc.817C>TSubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.T18Ac.52A>GSubstitution - Missense
NM_182557.1p.G53Gc.159C>TSubstitution - coding silent
P2RX7ENSG00000089041ENST00000546057p.V475fs*>121c.1419delCDeletion - Frameshift
SORCS1ENSG00000108018ENST00000344440p.?c.885+6C>TUnknown
MYH9ENSG00000100345ENST00000216181p.P522fs*25c.1565delCDeletion - Frameshift
HOMER1ENSG00000152413ENST00000334082p.?c.6-6C>AUnknown
NLGN3ENSG00000196338ENST00000374051p.L721Lc.2161C>TSubstitution - coding silent
BCL11AENSG00000119866ENST00000359629p.P84Pc.252A>GSubstitution - coding silent
SP100ENSG00000067066ENST00000340126p.E329Gc.986A>GSubstitution - Missense
ENST00000378986p.S144fs*25c.425delADeletion - Frameshift
ACAT2ENSG00000120437ENST00000367048p.L263Lc.789T>CSubstitution - coding silent
TRPC3ENSG00000138741ENST00000264811p.D153Gc.458A>GSubstitution - Missense
PLA2G15ENSG00000103066ENST00000219345p.V233fs*47c.695_696insGInsertion - Frameshift
SLC22A13ENSG00000172940ENST00000311856p.A91Vc.272C>TSubstitution - Missense
ENST00000508324_v68p.C202Yc.605G>ASubstitution - Missense
ACAP1ENSG00000072818ENST00000158762p.A596Tc.1786G>ASubstitution - Missense
C17orf80ENSG00000141219ENST00000359042p.L475Lc.1425A>TSubstitution - coding silent
MVDENSG00000167508ENST00000301012p.A129Tc.385G>ASubstitution - Missense
HDAC4ENSG00000068024ENST00000345617p.N1050Nc.3150C>TSubstitution - coding silent
ITGA6ENSG00000091409ENST00000409080p.G267Gc.801T>CSubstitution - coding silent
CTAGE1ENSG00000212710ENST00000391403p.P690fs*30c.2069delCDeletion - Frameshift
ENST00000361743p.M28Ic.84G>ASubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.?c.2662+10T>CUnknown
NLRC5ENSG00000140853ENST00000262510p.A808Vc.2423C>TSubstitution - Missense
WNK2ENSG00000165238ENST00000395477p.S1483Nc.4448G>ASubstitution - Missense
MCM8ENSG00000125885ENST00000378886p.G871Dc.2612G>ASubstitution - Missense
C10orf90ENSG00000154493ENST00000544758p.P247fs*58c.740delCDeletion - Frameshift
WIPF1ENSG00000115935ENST00000409891p.P265Pc.795T>GSubstitution - coding silent
MAPKBP1ENSG00000137802ENST00000456763p.R117Wc.349C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.G1458*c.4372G>TSubstitution - Nonsense
NCSTNENSG00000162736ENST00000438008p.?c.681+9A>GUnknown
EP400ENSG00000183495ENST00000333577p.T1493Mc.4478C>TSubstitution - Missense
ENST00000396394_v70p.T170Tc.510T>GSubstitution - coding silent
TNXBENSG00000168477ENST00000451343p.R61Hc.182G>ASubstitution - Missense
SUPT3HENSG00000196284ENST00000371460p.C328Cc.984C>TSubstitution - coding silent
GPR115ENSG00000153294ENST00000371220p.K142fs*26c.422delADeletion - Frameshift
JAKMIP1ENSG00000152969ENST00000282924p.V509Mc.1525G>ASubstitution - Missense
OFD1ENSG00000046651ENST00000340096p.R883Wc.2647C>TSubstitution - Missense
PIAS4ENSG00000105229ENST00000262971p.D19Nc.55G>ASubstitution - Missense
OR2J2ENSG00000196231ENST00000358688p.I165Vc.493A>GSubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.?c.2084-2A>GUnknown
PCDHB12ENSG00000120328ENST00000239450p.T428Ic.1283C>TSubstitution - Missense
PDGFRBENSG00000113721ENST00000261799p.R256Wc.766C>TSubstitution - Missense
TOM1L1ENSG00000141198ENST00000575882p.P422Sc.1264C>TSubstitution - Missense
NM_133482.1p.S97Pc.289T>CSubstitution - Missense
TEX10ENSG00000136891ENST00000374902p.G310Gc.930C>TSubstitution - coding silent
ZNF608ENSG00000168916ENST00000306315p.V17Ic.49G>ASubstitution - Missense


COSMIC

15 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
ARID1AENSG00000117713ENST00000324856p.Y551fs*72c.1644_1645insCInsertion - Frameshift20942669
NM_006218.1p.H1047Yc.3139C>TSubstitution - Missense20942669
KRASENSG00000133703ENST00000311936p.G13Cc.37G>TSubstitution - Missense20942669
KRASENSG00000133703ENST00000311936p.G13Cc.37G>TSubstitution - Missense22214849
NM_006218.1p.H1047Yc.?Substitution - Missense22214849
PTENENSG00000171862ENST00000371953p.K267fs*9c.795delADeletion - Frameshift19349352
KRASENSG00000133703ENST00000311936p.G13Cc.37G>TSubstitution - Missense19349352
NM_006218.1p.H1047Yc.3139C>TSubstitution - Missense19349352
PTENENSG00000171862ENST00000371953p.G143fs*4c.425delGDeletion - Frameshift19349352
NM_006218.1p.H1047Yc.3139C>TSubstitution - Missense20826764
ARID1AENSG00000117713ENST00000324856p.Y551fs*72c.1650_1651insCInsertion - Frameshift20826764
KRASENSG00000133703ENST00000311936p.G13Cc.37G>TSubstitution - Missense20826764
ARID1AENSG00000117713ENST00000324856p.Q758fs*75c.2272_2272delCDeletion - Frameshift20826764
KRASENSG00000133703ENST00000311936p.G13Cc.37G>TSubstitution - Missense22705003
NM_006218.1p.H1047Yc.?Substitution - Missense22705003