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KYSE-140 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1763 mutations reported
635 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
RNASELENSG00000135828ENST00000367559p.E46Kc.136G>ASubstitution - Missense
MYO5AENSG00000197535ENST00000399231p.Q1276Hc.3828G>CSubstitution - Missense
KDM5BENSG00000117139ENST00000367265p.S1158Fc.3473C>TSubstitution - Missense
RAD1ENSG00000113456ENST00000382038p.K224Nc.672G>CSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.R341Rc.1023G>ASubstitution - coding silent
XM_371254.3p.P2004Pc.6012G>ASubstitution - coding silent
FERMT2ENSG00000073712ENST00000395631p.K555Ec.1663A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P6616Lc.19847C>TSubstitution - Missense
ZNF177ENSG00000188629ENST00000343499p.G148Rc.442G>ASubstitution - Missense
MYO1FENSG00000142347ENST00000338257p.Q828Qc.2484G>ASubstitution - coding silent
GRM8ENSG00000179603ENST00000405249p.D43Yc.127G>TSubstitution - Missense
ACO1ENSG00000122729ENST00000309951p.L64Lc.190C>TSubstitution - coding silent
DACT2ENSG00000164488ENST00000366795p.T772Tc.2316C>TSubstitution - coding silent
DTHD1ENSG00000197057ENST00000456874p.V179Ic.535G>ASubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.H104Yc.310C>TSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.R135Cc.403C>TSubstitution - Missense
ZNRF4ENSG00000105428ENST00000222033p.G43Ec.128G>ASubstitution - Missense
MBNL1ENSG00000152601ENST00000324196p.P297Lc.890C>TSubstitution - Missense
SLC26A5ENSG00000170615ENST00000393735p.G187Rc.559G>ASubstitution - Missense
ENST00000222857p.A104Ac.312G>CSubstitution - coding silent
EPHB1ENSG00000154928ENST00000398015p.K516Nc.1548G>TSubstitution - Missense
INIPENSG00000148153ENST00000374242p.?c.129-9C>TUnknown
GOLM1ENSG00000135052ENST00000388712p.A212Tc.634G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.S2977Sc.8931C>TSubstitution - coding silent
PCDHA8ENSG00000204962ENST00000531613p.F242Fc.726C>TSubstitution - coding silent
NM_016377.2p.S12Fc.35C>TSubstitution - Missense
PCDHGA4ENSG00000262576ENST00000571252p.P462Sc.1384C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.T187Kc.560C>ASubstitution - Missense
NM_021874.2p.P308Sc.922C>TSubstitution - Missense
DPP6ENSG00000130226ENST00000406326p.A148Gc.443C>GSubstitution - Missense
WDR17ENSG00000150627ENST00000280190p.Y518Fc.1553A>TSubstitution - Missense
FCRLAENSG00000132185ENST00000540926p.L88Fc.262C>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.H1370Hc.4110C>TSubstitution - coding silent
TRIOBPENSG00000100106ENST00000406386p.A538Ac.1614C>ASubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.R1090Rc.3270C>TSubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.P1628Lc.4883C>TSubstitution - Missense
VWA5B2ENSG00000145198ENST00000426955p.S363Sc.1089C>TSubstitution - coding silent
ENST00000319748p.I162Nc.485T>ASubstitution - Missense
OR9Q2ENSG00000186513ENST00000311591p.F34Lc.102C>GSubstitution - Missense
CTNND1ENSG00000198561ENST00000399050p.N892Dc.2674A>GSubstitution - Missense
KCNQ1ENSG00000053918ENST00000335475p.?c.747+5G>AUnknown
KDELC2ENSG00000178202ENST00000434945p.L119Lc.357C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.?c.1652-8T>GUnknown
ENST00000405167p.L2609Rc.7826T>GSubstitution - Missense
CLTCL1ENSG00000070371ENST00000427926p.I1033Ic.3099C>TSubstitution - coding silent
ZNF33BENSG00000196693ENST00000359467p.R433Rc.1297A>CSubstitution - coding silent
NRP1ENSG00000099250ENST00000374823p.T548Ic.1643C>TSubstitution - Missense
RAPGEF3ENSG00000079337ENST00000395358p.E239Kc.715G>ASubstitution - Missense
MYL6ENSG00000092841ENST00000547649p.?c.3+1_32-4>25Unknown
CSPG4ENSG00000173546ENST00000308508p.I108Ic.324C>ASubstitution - coding silent
ENST00000333815p.R44Rc.132A>GSubstitution - coding silent
RAPGEF3ENSG00000079337ENST00000449771p.L787Lc.2361C>TSubstitution - coding silent
CSDE1ENSG00000009307ENST00000369530p.?c.2097+1_2098-1del796Unknown
IFFO2ENSG00000169991ENST00000455833p.M355Vc.1063A>GSubstitution - Missense
PTCHD3ENSG00000182077ENST00000438700p.G246Ec.737G>ASubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.S97Gc.289A>GSubstitution - Missense
ENST00000346108p.Q425_Q430delQQQQQQc.1258_1275del18Deletion - In frame
VRK1ENSG00000100749ENST00000216639p.R148Rc.444G>ASubstitution - coding silent
NUP155ENSG00000113569ENST00000231498p.D479Yc.1435G>TSubstitution - Missense
BCAR1ENSG00000050820ENST00000393420p.G126Ac.377G>CSubstitution - Missense
SNTG1ENSG00000147481ENST00000518864p.L208Lc.624G>TSubstitution - coding silent
CTNNBL1ENSG00000132792ENST00000361383p.P76Rc.227C>GSubstitution - Missense
ERN1ENSG00000178607ENST00000433197p.R262Rc.786C>TSubstitution - coding silent
TAS2R3ENSG00000127362ENST00000247879p.N24Nc.72T>CSubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.R257*c.769C>TSubstitution - Nonsense
HOXD4ENSG00000170166ENST00000306324p.V13Vc.39G>ASubstitution - coding silent
ZNF534ENSG00000198633ENST00000332323p.G615Rc.1843G>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.K792Kc.2376G>ASubstitution - coding silent
CCNB3ENSG00000147082ENST00000376042p.P982Sc.2944C>TSubstitution - Missense
DKC1ENSG00000130826ENST00000369550p.K424Rc.1271A>GSubstitution - Missense
RHOENSG00000163914ENST00000296271p.V137Mc.409G>ASubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.D343Nc.1027G>ASubstitution - Missense
KLHL4ENSG00000102271ENST00000373114p.Y709Sc.2126A>CSubstitution - Missense
FAM26DENSG00000164451ENST00000368597p.D74Dc.222C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.R1243Qc.3728G>ASubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.?c.133+9G>AUnknown
ZNF462ENSG00000148143ENST00000457913p.P1613Pc.4839G>ASubstitution - coding silent
NM_014866.1p.Q759Pc.2276A>CSubstitution - Missense
SNRPAENSG00000077312ENST00000243563p.R243Rc.729G>TSubstitution - coding silent
PAFAH1B3ENSG00000079462ENST00000262890p.L123Rc.368T>GSubstitution - Missense
HYDINENSG00000157423ENST00000538248p.W654*c.1962G>ASubstitution - Nonsense
ZFHX3ENSG00000140836ENST00000268489p.P2501Sc.7501C>TSubstitution - Missense
MSX2ENSG00000120149ENST00000239243p.S152Fc.455C>TSubstitution - Missense
ENST00000378143p.D124Nc.370G>ASubstitution - Missense
NAA16ENSG00000172766ENST00000379367p.S436Fc.1307C>TSubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.E1100Kc.3298G>ASubstitution - Missense
PMFBP1ENSG00000118557ENST00000537465p.V322Mc.964G>ASubstitution - Missense
ENST00000379700p.D150Yc.448G>TSubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.D43Yc.127G>TSubstitution - Missense
TMEM72ENSG00000187783ENST00000389583p.S145Fc.434C>TSubstitution - Missense
ETS1ENSG00000134954ENST00000319397p.S198Sc.594C>TSubstitution - coding silent
C2CD3ENSG00000168014ENST00000313663p.F1796Fc.5388C>TSubstitution - coding silent
C2CD3ENSG00000168014ENST00000313663p.P1221Pc.3663C>TSubstitution - coding silent
CORO1BENSG00000172725ENST00000341356p.R402Wc.1204C>TSubstitution - Missense
TPP2ENSG00000134900ENST00000376065p.D1010Nc.3028G>ASubstitution - Missense
KIF26AENSG00000066735ENST00000423312p.P179Sc.535C>TSubstitution - Missense
DLATENSG00000150768ENST00000280346p.?c.786_788-3del3742Unknown
CSDE1ENSG00000009307ENST00000358528p.?c.2216+1_2217-1del833Unknown
NM_015133.2p.P943Rc.2828C>GSubstitution - Missense
ENST00000298047_v61p.I2339Vc.7015A>GSubstitution - Missense
ATP13A3ENSG00000133657ENST00000256031p.Y191Fc.572A>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000361209p.G987Ac.2960G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.V265Ec.794T>ASubstitution - Missense
ZNF574ENSG00000105732ENST00000222339p.H744Hc.2232C>TSubstitution - coding silent
MTPAPENSG00000107951ENST00000358107p.S450Sc.1350C>TSubstitution - coding silent
PAN2ENSG00000135473ENST00000440411p.?c.1263-4G>TUnknown
ROBO4ENSG00000154133ENST00000306534p.A694Pc.2080G>CSubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.P1221Pc.3663C>TSubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.Q1096Hc.3288G>TSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.G446Dc.1337G>ASubstitution - Missense
GAB2ENSG00000033327ENST00000361507p.P138Pc.414C>TSubstitution - coding silent
PIK3C2GENSG00000139144ENST00000433979p.G39Sc.115G>ASubstitution - Missense
PRKD1ENSG00000184304ENST00000331968p.N403Sc.1208A>GSubstitution - Missense
IPO7ENSG00000205339ENST00000379719p.Y67Cc.200A>GSubstitution - Missense
SFMBT2ENSG00000198879ENST00000361972p.P419Sc.1255C>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.S967Pc.2899T>CSubstitution - Missense
TTBK2ENSG00000128881ENST00000267890p.Y511Cc.1532A>GSubstitution - Missense
MUC15ENSG00000169550ENST00000455601p.R272Wc.814C>TSubstitution - Missense
PAPLNENSG00000100767ENST00000340738p.A460Tc.1378G>ASubstitution - Missense
CSDE1ENSG00000009307ENST00000358528p.?c.1873+2_1874del3165Unknown
ZMYND11ENSG00000015171ENST00000397962p.?c.1228-8C>TUnknown
NEK7ENSG00000151414ENST00000367385p.L54Lc.162C>TSubstitution - coding silent
ARHGAP20ENSG00000137727ENST00000260283p.P808Sc.2422C>TSubstitution - Missense
KBTBD13ENSG00000234438ENST00000432196p.R37fs*17c.108delCDeletion - Frameshift
SERPINA10ENSG00000140093ENST00000393096p.T297Tc.891C>TSubstitution - coding silent
MEF2AENSG00000068305ENST00000354410p.Q417_Q422delQQQQQQc.1234_1251del18Deletion - In frame
RSAD1ENSG00000136444ENST00000258955p.R320Qc.959G>ASubstitution - Missense
SPNS3ENSG00000182557ENST00000355530p.A353Ac.1059C>TSubstitution - coding silent
ENST00000331986p.P2249Lc.6746C>TSubstitution - Missense
ENST00000356127p.P7969Pc.23907G>ASubstitution - coding silent
ENST00000329047_v70p.V154Gc.461T>GSubstitution - Missense
SLC25A51ENSG00000122696ENST00000377716p.C107Sc.320G>CSubstitution - Missense
DHRS7BENSG00000109016ENST00000395511p.?c.772+9C>TUnknown
DNASE2ENSG00000105612ENST00000222219p.L67Vc.199C>GSubstitution - Missense
ZNF721ENSG00000182903ENST00000338977p.K132*c.394A>TSubstitution - Nonsense
SALL1ENSG00000103449ENST00000251020p.G46Rc.136G>CSubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.E235Kc.703G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.A989Ec.2966C>ASubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.A989Ec.2966C>ASubstitution - Missense
HADHBENSG00000138029ENST00000317799p.?c.1387_1390-4del4346Unknown
TTNENSG00000155657ENST00000342992p.G28220Sc.84658G>ASubstitution - Missense
GRIN2AENSG00000183454ENST00000396573p.M1167Ic.3501G>ASubstitution - Missense
ELK1ENSG00000126767ENST00000247161p.S394Pc.1180T>CSubstitution - Missense
ENSG00000219492ENST00000508324p.D99Nc.295G>ASubstitution - Missense
COG1ENSG00000166685ENST00000299886p.V329Ic.985G>ASubstitution - Missense
MAS1ENSG00000130368ENST00000252660p.L202Lc.606C>TSubstitution - coding silent
SH3BP4ENSG00000130147ENST00000344528p.P638Sc.1912C>TSubstitution - Missense
COL5A3ENSG00000080573ENST00000264828p.V140Vc.420C>TSubstitution - coding silent
SLIT2ENSG00000145147ENST00000504154p.R617Lc.1850G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.P824Sc.2470C>TSubstitution - Missense
AP2B1ENSG00000006125ENST00000312678p.A698Tc.2092G>ASubstitution - Missense
IRAK1BP1ENSG00000146243ENST00000369940p.I246Mc.738A>GSubstitution - Missense
ZNF527ENSG00000189164ENST00000356178p.E375Gc.1124A>GSubstitution - Missense
SLC2A2ENSG00000163581ENST00000314251p.A497Ec.1490C>ASubstitution - Missense
WNT8AENSG00000061492ENST00000398754p.?c.103-10C>TUnknown
HLA-AENSG00000206503ENST00000396634p.D140Nc.418G>ASubstitution - Missense
ENST00000316490_v65p.I1597Mc.4791C>GSubstitution - Missense
DPP6ENSG00000130226ENST00000332007p.A86Gc.257C>GSubstitution - Missense
DPP6ENSG00000130226ENST00000404039p.A84Gc.251C>GSubstitution - Missense
PSMB8ENSG00000204264ENST00000374882p.?c.538-2A>TUnknown
GRM4ENSG00000124493ENST00000374181p.P56Sc.166C>TSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.F55Fc.165C>TSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.P2712Sc.8134C>TSubstitution - Missense
SCN9AENSG00000169432ENST00000409672p.F1222Sc.3665T>CSubstitution - Missense
TFIP11ENSG00000100109ENST00000407690p.A714Ac.2142G>TSubstitution - coding silent
ZNF276ENSG00000158805ENST00000443381p.V230Vc.690C>TSubstitution - coding silent
ZNF606ENSG00000166704ENST00000341164p.P651Pc.1953C>TSubstitution - coding silent
SPASTENSG00000021574ENST00000315285p.R297Kc.890G>ASubstitution - Missense
IL1RL2ENSG00000115598ENST00000441515p.?c.782-3C>TUnknown
ESRP2ENSG00000103067ENST00000473183p.F357Lc.1069T>CSubstitution - Missense
MPPED1ENSG00000186732ENST00000417669p.Y181Nc.541T>ASubstitution - Missense
ENST00000358511_v70p.L1004Fc.3010C>TSubstitution - Missense
ZNF493ENSG00000196268ENST00000392288p.S581Yc.1742C>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.F1533Fc.4599C>TSubstitution - coding silent
MAN1A1ENSG00000111885ENST00000368466p.S215*c.644C>ASubstitution - Nonsense
LRBAENSG00000198589ENST00000357115p.?c.7486-4G>TUnknown
COL5A1ENSG00000130635ENST00000371817p.P713Pc.2139C>TSubstitution - coding silent
BRCA1ENSG00000012048ENST00000471181p.I1058Vc.3172A>GSubstitution - Missense
RRAGDENSG00000025039ENST00000369415p.T325Tc.975C>TSubstitution - coding silent
ENST00000319379p.I1738Vc.5212A>GSubstitution - Missense
ENST00000402998p.L745Ic.2233C>ASubstitution - Missense
SMARCB1ENSG00000099956ENST00000344921p.L167Lc.501C>TSubstitution - coding silent
FIGNENSG00000182263ENST00000333129p.S689Cc.2066C>GSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.?c.3327+10C>GUnknown
ADIPOQENSG00000181092ENST00000320741p.K77Ec.229A>GSubstitution - Missense
ANKRD10ENSG00000088448ENST00000375758p.L144Fc.430C>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.?c.7608-8C>TUnknown
UXS1ENSG00000115652ENST00000428048p.L153Lc.459C>GSubstitution - coding silent
ZNF41ENSG00000147124ENST00000397050p.K577Rc.1730A>GSubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.P342Lc.1025C>TSubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.V1282Fc.3844G>TSubstitution - Missense
MARCH8ENSG00000165406ENST00000395769p.H264Nc.790C>ASubstitution - Missense
TAS2R30ENSG00000256188ENST00000539585p.L206Vc.616C>GSubstitution - Missense
NM_172217.1p.M913Ic.2739G>ASubstitution - Missense
POLEENSG00000177084ENST00000320574p.L78Fc.234A>TSubstitution - Missense
RRP8ENSG00000132275ENST00000254605p.I299Vc.895A>GSubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.K116Tc.347A>CSubstitution - Missense
MUC15ENSG00000169550ENST00000436318p.R299Wc.895C>TSubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.Q76Qc.228G>ASubstitution - coding silent
CSDE1ENSG00000009307ENST00000358528p.?c.2052+1_2053-1del796Unknown
CUBNENSG00000107611ENST00000377833p.F1598Lc.4794C>ASubstitution - Missense
LRRC41ENSG00000132128ENST00000343304p.A293Ac.879T>CSubstitution - coding silent
SNTG1ENSG00000147481ENST00000518864p.L208Lc.624G>TSubstitution - coding silent
TNRC6CENSG00000078687ENST00000335749p.N318Sc.953A>GSubstitution - Missense
STRADAENSG00000266173ENST00000336174p.?c.94+8C>AUnknown
DNAJA1ENSG00000086061ENST00000330899p.?c.642_644-3del3548Unknown
ENST00000312412_v68p.F390Fc.1170C>TSubstitution - coding silent
DTHD1ENSG00000197057ENST00000357504p.V14Ic.40G>ASubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.V1240Gc.3719T>GSubstitution - Missense
CAP2ENSG00000112186ENST00000229922p.L106Rc.317T>GSubstitution - Missense
BSNENSG00000164061ENST00000296452p.P1378Sc.4132C>TSubstitution - Missense
SLC17A2ENSG00000112337ENST00000360488p.?c.241-7C>TUnknown
RDH13ENSG00000160439ENST00000415061p.K262*c.784A>TSubstitution - Nonsense
AP1B1ENSG00000100280ENST00000357586p.R864Tc.2591G>CSubstitution - Missense
MYH4ENSG00000264424ENST00000255381p.L479Lc.1437G>TSubstitution - coding silent
EPHA6ENSG00000080224ENST00000389672p.E325Kc.973G>ASubstitution - Missense
CDH3ENSG00000062038ENST00000429102p.F96Fc.288C>TSubstitution - coding silent
PDLIM5ENSG00000163110ENST00000318007p.R114Cc.340C>TSubstitution - Missense
TMEM256-PLSCR3ENSG00000187838ENST00000324822p.S266Fc.797C>TSubstitution - Missense
FAM221AENSG00000188732ENST00000344962p.W58*c.174G>ASubstitution - Nonsense
CDH12ENSG00000154162ENST00000382254p.T107Tc.321C>ASubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.M1032Vc.3094A>GSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.S707Lc.2120C>TSubstitution - Missense
ZNF493ENSG00000196268ENST00000355504p.S453Yc.1358C>ASubstitution - Missense
ECM2ENSG00000106823ENST00000444490p.M180Ic.540G>ASubstitution - Missense
CDH22ENSG00000149654ENST00000372262p.P150Lc.449C>TSubstitution - Missense
EIF4E1BENSG00000175766ENST00000318682p.T183Ic.548C>TSubstitution - Missense
EMBENSG00000170571ENST00000303221p.R151Rc.453G>ASubstitution - coding silent
BCAR1ENSG00000050820ENST00000162330p.G126Ac.377G>CSubstitution - Missense
ABI3ENSG00000108798ENST00000225941p.M75Tc.224T>CSubstitution - Missense
ENSG00000228157ENST00000428928p.E52Kc.154G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.R2461Wc.7381C>TSubstitution - Missense
NUDT19ENSG00000213965ENST00000397061p.C219Rc.655T>CSubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.V828Vc.2484G>ASubstitution - coding silent
ACO1ENSG00000122729ENST00000379923p.L64Lc.190C>TSubstitution - coding silent
C19orf38ENSG00000214212ENST00000397820p.F112Fc.336C>TSubstitution - coding silent
KRTAP10-3ENSG00000212935ENST00000391620p.S182Sc.546C>ASubstitution - coding silent
UGT2B4ENSG00000156096ENST00000305107p.G185Rc.553G>ASubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.I1834Ic.5502C>TSubstitution - coding silent
OR5K3ENSG00000206536ENST00000383695p.M315Ic.945G>TSubstitution - Missense
METAP1ENSG00000164024ENST00000296411p.R88Rc.264A>GSubstitution - coding silent
UXS1ENSG00000115652ENST00000283148p.L314Lc.942C>GSubstitution - coding silent
ARPP21ENSG00000172995ENST00000187397p.L582Fc.1744C>TSubstitution - Missense
CREB5ENSG00000146592ENST00000357727p.D31Hc.91G>CSubstitution - Missense
SP110ENSG00000135899ENST00000540870p.L176Lc.526C>TSubstitution - coding silent
ZNF138ENSG00000197008ENST00000494380p.?c.3+2T>CUnknown
KALRNENSG00000160145ENST00000360013p.E1698Kc.5092G>ASubstitution - Missense
SPHK2ENSG00000063176ENST00000245222p.G311Sc.931G>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.S68Fc.203C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.R653Gc.1957C>GSubstitution - Missense
PCSK1ENSG00000175426ENST00000311106p.A140Ac.420C>TSubstitution - coding silent
PRDM13ENSG00000112238ENST00000369214p.V59Vc.177G>ASubstitution - coding silent
GUCY1A3ENSG00000164116ENST00000296518p.P644Pc.1932A>GSubstitution - coding silent
FAM193AENSG00000125386ENST00000382839p.P726Pc.2178G>ASubstitution - coding silent
NOTCH1ENSG00000148400ENST00000277541p.L1201Lc.3603C>TSubstitution - coding silent
SERPINB6ENSG00000124570ENST00000380520p.F201Cc.602T>GSubstitution - Missense
GZMAENSG00000145649ENST00000274306p.?c.70+1G>TUnknown
TNXBENSG00000168477ENST00000375244p.P2625Sc.7873C>TSubstitution - Missense
ATP13A4ENSG00000127249ENST00000342695p.?c.1272+10C>TUnknown
PCSK5ENSG00000099139ENST00000424854p.G960Sc.2878G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.P1959Sc.5875C>TSubstitution - Missense
ENST00000379921p.P373Sc.1117C>TSubstitution - Missense
PHLPP1ENSG00000081913ENST00000262719p.S1504Sc.4512C>TSubstitution - coding silent
EPRSENSG00000136628ENST00000366923p.?c.1350-4C>TUnknown
CCDC63ENSG00000173093ENST00000308208p.V469Gc.1406T>GSubstitution - Missense
NPFFENSG00000139574ENST00000267017p.L57Rc.170T>GSubstitution - Missense
MBD6ENSG00000166987ENST00000355673p.P627Pc.1881C>TSubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000310343p.?c.2081-3C>TUnknown
IL16ENSG00000172349ENST00000302987p.M959Ic.2877G>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.F1796Fc.5388C>TSubstitution - coding silent
MYO7AENSG00000137474ENST00000409709p.F407Fc.1221C>TSubstitution - coding silent
RERGLENSG00000111404ENST00000229002p.?c.335+9T>GUnknown
FLT1ENSG00000102755ENST00000282397p.G948Gc.2844C>TSubstitution - coding silent
MRGPRDENSG00000172938ENST00000309106p.S265Lc.794C>TSubstitution - Missense
PROSER1ENSG00000120685ENST00000352251p.P359Sc.1075C>TSubstitution - Missense
KDELC2ENSG00000178202ENST00000323468p.L175Lc.525C>TSubstitution - coding silent
DLATENSG00000150768ENST00000280346p.?c.975_976-2del1783Unknown
MLH3ENSG00000119684ENST00000355774p.R1379Hc.4136G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.I2339Vc.7015A>GSubstitution - Missense
ENST00000263528p.T67Ic.200C>TSubstitution - Missense
FKBP4ENSG00000004478ENST00000001008p.R189Hc.566G>ASubstitution - Missense
SCG3ENSG00000104112ENST00000220478p.G239Dc.716G>ASubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.D78Gc.233A>GSubstitution - Missense
RPS29ENSG00000213741ENST00000396020p.G2Cc.4G>TSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.R302Kc.905G>ASubstitution - Missense
DAB1ENSG00000173406ENST00000371231p.?c.439-4C>TUnknown
ENST00000215591p.P356Sc.1066C>TSubstitution - Missense
ACO1ENSG00000122729ENST00000309951p.P373Sc.1117C>TSubstitution - Missense
ERN1ENSG00000178607ENST00000433197p.R262Rc.786C>TSubstitution - coding silent
MST1ENSG00000173531ENST00000449682p.E429Dc.1287G>CSubstitution - Missense
WDR27ENSG00000184465ENST00000333572p.Q427*c.1279C>TSubstitution - Nonsense
SLC5A1ENSG00000100170ENST00000266088p.S562Gc.1684A>GSubstitution - Missense
CRTC3ENSG00000140577ENST00000268184p.A189Ac.567C>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.R1259Rc.3777A>CSubstitution - coding silent
FOPNLENSG00000133393ENST00000255759p.Y108Sc.323A>CSubstitution - Missense
NMT2ENSG00000152465ENST00000378165p.D93Nc.277G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.M1639Ic.4917G>CSubstitution - Missense
PICALMENSG00000073921ENST00000532317p.L586Vc.1756T>GSubstitution - Missense
C11orf16ENSG00000176029ENST00000326053p.P317Lc.950C>TSubstitution - Missense
BDKRB2ENSG00000168398ENST00000554311p.V66Gc.197T>GSubstitution - Missense
DMRTB1ENSG00000143006ENST00000371445p.F307Vc.919T>GSubstitution - Missense
EGLN3ENSG00000129521ENST00000250457p.R193Kc.578G>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000357798p.N85Nc.255C>TSubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.R341Kc.1022G>ASubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.K428Rc.1283A>GSubstitution - Missense
GALCENSG00000054983ENST00000261304p.S232Fc.695C>TSubstitution - Missense
ENST00000311926p.E51Ec.153A>GSubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.S141Sc.423C>TSubstitution - coding silent
ACN9ENSG00000196636ENST00000432641p.L12Lc.36G>ASubstitution - coding silent
ENST00000356127p.S20361Nc.61082G>ASubstitution - Missense
ANKMY1ENSG00000144504ENST00000391987p.L592Fc.1774C>TSubstitution - Missense
EPHA6ENSG00000080224ENST00000502694p.N77Nc.231C>TSubstitution - coding silent
ZNF665ENSG00000197497ENST00000396424p.S130Gc.388A>GSubstitution - Missense
FERENSG00000151422ENST00000281092p.V621Fc.1861G>TSubstitution - Missense
SEMA3CENSG00000075223ENST00000544525p.S383Fc.1148C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S4327Fc.12980C>TSubstitution - Missense
GINM1ENSG00000055211ENST00000367419p.?c.180+9C>TUnknown
MUC12ENSG00000205277ENST00000536621p.T3557Ac.10669A>GSubstitution - Missense
CDPF1ENSG00000205643ENST00000314567p.E42Vc.125A>TSubstitution - Missense
CYP27A1ENSG00000135929ENST00000258415p.L351Fc.1051C>TSubstitution - Missense
ERAP1ENSG00000164307ENST00000296754p.L10Fc.28C>TSubstitution - Missense
PRDM13ENSG00000112238ENST00000369215p.V49Vc.147G>ASubstitution - coding silent
SORBS2ENSG00000154556ENST00000418609p.M369Lc.1105A>TSubstitution - Missense
ZCCHC4ENSG00000168228ENST00000302874p.G376Gc.1128G>ASubstitution - coding silent
CKS2ENSG00000123975ENST00000314355p.?c.59_60-2del3818Unknown
SPAG9ENSG00000008294ENST00000262013p.P587Sc.1759C>TSubstitution - Missense
SIENSG00000090402ENST00000264382p.T443Tc.1329C>ASubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.I1793Vc.5377A>GSubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.Q393*c.1177C>TSubstitution - Nonsense
PCDHA8ENSG00000204962ENST00000378123p.F242Fc.726C>TSubstitution - coding silent
ZNF275ENSG00000063587ENST00000440091p.F304Fc.912C>TSubstitution - coding silent
ZBTB9ENSG00000213588ENST00000395064p.P88Sc.262C>TSubstitution - Missense
SWI5ENSG00000175854ENST00000320188p.R58Sc.174A>TSubstitution - Missense
RNF180ENSG00000164197ENST00000296615p.P175Sc.523C>TSubstitution - Missense
NPAS3ENSG00000151322ENST00000341321p.N115Nc.345C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.E2912Qc.8734G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L2609Rc.7826T>GSubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.D192Nc.574G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.R2468Wc.7402C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.S464Fc.1391C>TSubstitution - Missense
ZFP57ENSG00000204644ENST00000376883p.P390Tc.1168C>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.P572Rc.1715C>GSubstitution - Missense
MTPAPENSG00000107951ENST00000263063p.S320Sc.960C>TSubstitution - coding silent
MAP3K12ENSG00000139625ENST00000267079p.L392Rc.1175T>GSubstitution - Missense
MYL6ENSG00000092841ENST00000550697p.?c.175_176-2del244Unknown
C12orf68ENSG00000177875ENST00000316554p.G39Dc.116G>ASubstitution - Missense
COG2ENSG00000135775ENST00000366669p.P471Lc.1412C>TSubstitution - Missense
MATN1ENSG00000162510ENST00000373765p.G270Dc.809G>ASubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
TIE1ENSG00000066056ENST00000372476p.G946Ec.2837G>ASubstitution - Missense
ASPMENSG00000066279ENST00000367409p.L1685Fc.5055G>TSubstitution - Missense
C10orf67ENSG00000179133ENST00000376500p.S271Sc.813A>GSubstitution - coding silent
EP400ENSG00000183495ENST00000389561p.?c.1544-8T>GUnknown
PKLRENSG00000143627ENST00000342741p.R194Rc.582G>ASubstitution - coding silent
NRDE2ENSG00000119720ENST00000354366p.Q277*c.829C>TSubstitution - Nonsense
CHST5ENSG00000135702ENST00000336257p.G335Sc.1003G>ASubstitution - Missense
ENST00000329047_v70p.T90Sc.269C>GSubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.?c.868-4C>TUnknown
ZNF724PENSG00000196081ENST00000418100p.T138Sc.412A>TSubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.P502Lc.1505C>TSubstitution - Missense
RNF213ENSG00000173821ENST00000319921p.?c.2210+7C>TUnknown
RNF213ENSG00000173821ENST00000456466p.?c.2210+7C>TUnknown
CEP95ENSG00000258890ENST00000556440p.R153Rc.459A>GSubstitution - coding silent
DCCENSG00000187323ENST00000412726p.G885Vc.2654G>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.R257*c.769C>TSubstitution - Nonsense
XM_374491.1p.P1153Lc.3458C>TSubstitution - Missense
NM_014501.1p.P182Pc.546T>GSubstitution - coding silent
KATNA1ENSG00000186625ENST00000335647p.N447Yc.1339A>TSubstitution - Missense
HGFENSG00000019991ENST00000222390p.E120Kc.358G>ASubstitution - Missense
IL1RAPL1ENSG00000169306ENST00000378993p.?c.1201+4G>AUnknown
HOXA5ENSG00000106004ENST00000222726p.G67Rc.199G>ASubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.L666Qc.1997T>ASubstitution - Missense
SRPK1ENSG00000096063ENST00000373825p.A10Sc.28G>TSubstitution - Missense
TROENSG00000067445ENST00000173898p.V375Lc.1123G>CSubstitution - Missense
PNPLA7ENSG00000130653ENST00000277531p.L279Lc.837G>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000395337p.R653Gc.1957C>GSubstitution - Missense
RTTNENSG00000176225ENST00000255674p.A1479Pc.4435G>CSubstitution - Missense
GPR125ENSG00000152990ENST00000334304p.L1015Sc.3044T>CSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.P1613Pc.4839G>ASubstitution - coding silent
FAM26DENSG00000164451ENST00000405399p.D117Dc.351C>TSubstitution - coding silent
VPS13AENSG00000197969ENST00000357409p.H493Yc.1477C>TSubstitution - Missense
TNIKENSG00000154310ENST00000436636p.S726Sc.2178C>TSubstitution - coding silent
SLC2A2ENSG00000163581ENST00000314251p.A497Tc.1489G>ASubstitution - Missense
POLD2ENSG00000106628ENST00000406581p.L467Lc.1399C>TSubstitution - coding silent
DDR1ENSG00000204580ENST00000324771p.R686Rc.2056C>ASubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.L470Ic.1408C>ASubstitution - Missense
EXOSC5ENSG00000077348ENST00000221233p.S46Fc.137C>TSubstitution - Missense
ENST00000304105p.G307Gc.921G>TSubstitution - coding silent
TECRENSG00000099797ENST00000215567p.F258Fc.774C>TSubstitution - coding silent
PSMB8ENSG00000204264ENST00000374881p.?c.526-2A>TUnknown
GSNENSG00000148180ENST00000373818p.A288Vc.863C>TSubstitution - Missense
OR4S2ENSG00000174982ENST00000312422p.S240Fc.719C>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000556279p.P285Sc.853C>TSubstitution - Missense
POU2F1ENSG00000143190ENST00000420254p.S360Lc.1079C>TSubstitution - Missense
CHD1LENSG00000131778ENST00000369258p.S283Sc.849A>CSubstitution - coding silent
FAM193AENSG00000125386ENST00000324666p.P726Pc.2178G>ASubstitution - coding silent
PHLPP2ENSG00000040199ENST00000360429p.K163Kc.489G>ASubstitution - coding silent
ENST00000379921p.L64Lc.190C>TSubstitution - coding silent
ENST00000369212_v70p.A324Vc.971C>TSubstitution - Missense
DSPENSG00000096696ENST00000379802p.R1400Qc.4199G>ASubstitution - Missense
ABCA7ENSG00000064687ENST00000263094p.S1875Sc.5625C>TSubstitution - coding silent
ACAD10ENSG00000111271ENST00000313698p.R789Hc.2366G>ASubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
RBMS2ENSG00000076067ENST00000262031p.?c.1143+7G>CUnknown
IFIT1BENSG00000204010ENST00000371809p.E361Kc.1081G>ASubstitution - Missense
RERGLENSG00000111404ENST00000229002p.?c.335+9T>GUnknown
MYBPC3ENSG00000134571ENST00000399249p.R835Lc.2504G>TSubstitution - Missense
ARHGEF40ENSG00000165801ENST00000298694p.T273Tc.819C>GSubstitution - coding silent
TICRRENSG00000140534ENST00000268138p.A1404Tc.4210G>ASubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.G446Dc.1337G>ASubstitution - Missense
GFRA1ENSG00000151892ENST00000369236p.C272Yc.815G>ASubstitution - Missense
NALCNENSG00000102452ENST00000251127p.L966Fc.2898G>TSubstitution - Missense
ZIC5ENSG00000139800ENST00000267294p.P422_P424delPPPc.1254_1262delGCCGCCGCCDeletion - In frame
PIWIL4ENSG00000134627ENST00000299001p.E707Ec.2121A>GSubstitution - coding silent
DDX21ENSG00000165732ENST00000354185p.F208Fc.624C>TSubstitution - coding silent
ATP1A2ENSG00000018625ENST00000361216p.R466Kc.1397G>ASubstitution - Missense
FCRLAENSG00000132185ENST00000367959p.L105Fc.313C>TSubstitution - Missense
ALDH9A1ENSG00000143149ENST00000354775p.Y501Yc.1503T>CSubstitution - coding silent
ASAH2BENSG00000204147ENST00000374006p.S18Rc.54C>ASubstitution - Missense
HEATR4ENSG00000187105ENST00000553558p.R773Kc.2318G>ASubstitution - Missense
XYLT2ENSG00000015532ENST00000017003p.M227Tc.680T>CSubstitution - Missense
SPPL2CENSG00000185294ENST00000329196p.I586Vc.1756A>GSubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.S103Fc.308C>TSubstitution - Missense
ENST00000300671p.?c.7635-8C>TUnknown
GRM8ENSG00000179603ENST00000339582p.D43Yc.127G>TSubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.Y312Yc.936T>CSubstitution - coding silent
PHF12ENSG00000109118ENST00000332830p.P653Sc.1957C>TSubstitution - Missense
DNASE2ENSG00000105612ENST00000222219p.P99Pc.297G>CSubstitution - coding silent
ENST00000434864p.R135*c.403C>TSubstitution - Nonsense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.?c.3248+10G>AUnknown
ANKRD30BENSG00000180777ENST00000358984p.L787Lc.2361G>ASubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.R257*c.769C>TSubstitution - Nonsense
KIR3DL1ENSG00000167633ENST00000391728p.L312Fc.934C>TSubstitution - Missense
PFASENSG00000178921ENST00000314666p.I459Sc.1376T>GSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.M993Ic.2979G>ASubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.S796Sc.2388C>TSubstitution - coding silent
MYOZ2ENSG00000172399ENST00000307128p.N89Hc.265A>CSubstitution - Missense
SIAH2ENSG00000181788ENST00000312960p.?c.418-8C>TUnknown
DYNC1LI2ENSG00000135720ENST00000258198p.T272Tc.816A>GSubstitution - coding silent
HOXA6ENSG00000106006ENST00000222728p.L123Lc.369C>TSubstitution - coding silent
ABCB1ENSG00000085563ENST00000265724p.G632Ec.1895G>ASubstitution - Missense
GSG1LENSG00000169181ENST00000447459p.F198Lc.594C>GSubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.H1074Hc.3222C>TSubstitution - coding silent
UNC13AENSG00000130477ENST00000428389p.P519Lc.1556C>TSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.R1433Kc.4298G>ASubstitution - Missense
PTPRMENSG00000173482ENST00000332175p.V1107Ic.3319G>ASubstitution - Missense
PCSK1ENSG00000175426ENST00000311106p.L146Fc.436C>TSubstitution - Missense
MTO1ENSG00000135297ENST00000370300p.R571Tc.1712G>CSubstitution - Missense
CEP78ENSG00000148019ENST00000376597p.S646Fc.1937C>TSubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.Q235Qc.705G>ASubstitution - coding silent
SLC7A14ENSG00000013293ENST00000231706p.?c.1115+1G>AUnknown
ZNF639ENSG00000121864ENST00000326361p.L426*c.1277T>ASubstitution - Nonsense
FAM13BENSG00000031003ENST00000033079p.F131Vc.391T>GSubstitution - Missense
SLFN11ENSG00000172716ENST00000394566p.Q891fs*>11c.2671delCDeletion - Frameshift
SLFN11ENSG00000172716ENST00000394566p.W332*c.995G>ASubstitution - Nonsense
DDR1ENSG00000204580ENST00000418800p.R649Lc.1946G>TSubstitution - Missense
TESENSG00000135269ENST00000358204p.R42Sc.124C>ASubstitution - Missense
JAKMIP1ENSG00000152969ENST00000282924p.Q249*c.745C>TSubstitution - Nonsense
MAGEC1ENSG00000155495ENST00000285879p.V482Gc.1445T>GSubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.E3746Ec.11238G>ASubstitution - coding silent
GRM4ENSG00000124493ENST00000374181p.F55Fc.165C>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000361477p.G90Ac.269G>CSubstitution - Missense
ENST00000317826p.D205Dc.615C>TSubstitution - coding silent
MYT1LENSG00000186487ENST00000428368p.?c.2515-8G>TUnknown
SEPT9ENSG00000184640ENST00000423034p.V165Gc.494T>GSubstitution - Missense
WDR16ENSG00000166596ENST00000299764p.G531Rc.1591G>ASubstitution - Missense
INTUENSG00000164066ENST00000296461p.K277Ec.829A>GSubstitution - Missense
PNPLA7ENSG00000130653ENST00000406427p.L304Lc.912G>ASubstitution - coding silent
DDR1ENSG00000204580ENST00000361741p.R353Lc.1058G>TSubstitution - Missense
CCDC3ENSG00000151468ENST00000378825p.Q116Rc.347A>GSubstitution - Missense
XRRA1ENSG00000166435ENST00000340360p.R433*c.1297C>TSubstitution - Nonsense
TMEM132AENSG00000006118ENST00000005286p.E249Kc.745G>ASubstitution - Missense
APEX1ENSG00000100823ENST00000555414p.Q235*c.703C>TSubstitution - Nonsense
ENST00000530275_v68p.S754Sc.2262C>TSubstitution - coding silent
SETD1BENSG00000139718ENST00000542440p.L1401Lc.4203C>TSubstitution - coding silent
PLA2G4FENSG00000168907ENST00000382396p.G274Ec.821G>ASubstitution - Missense
C11orf52ENSG00000149300ENST00000278601p.?c.33-10C>TUnknown
DLATENSG00000150768ENST00000280346p.?c.1814_1815-2del1231Unknown
ARHGEF2ENSG00000116584ENST00000313695p.F132Fc.396C>TSubstitution - coding silent
SERPINA4ENSG00000100665ENST00000557004p.A85Tc.253G>ASubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.D78Gc.233A>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.Y605Sc.1814A>CSubstitution - Missense
ARHGEF7ENSG00000102606ENST00000375741p.L157Fc.469C>TSubstitution - Missense
TTLL7ENSG00000137941ENST00000260505p.L343Lc.1027C>TSubstitution - coding silent
NOC2LENSG00000188976ENST00000327044p.P148Sc.442C>TSubstitution - Missense
ENST00000371233p.?c.439-4C>TUnknown
ZNF644ENSG00000122482ENST00000370440p.F1202Fc.3606C>TSubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.K4331Nc.12993A>CSubstitution - Missense
ENST00000428290_v65p.K507Kc.1521A>GSubstitution - coding silent
PPAP2CENSG00000141934ENST00000269812p.M173Ic.519G>TSubstitution - Missense
ENST00000311926p.L8Lc.24G>ASubstitution - coding silent
DSC3ENSG00000134762ENST00000360428p.L457Wc.1370T>GSubstitution - Missense
KIAA1429ENSG00000164944ENST00000421249p.?c.179+9A>GUnknown
RAD51AP2ENSG00000214842ENST00000399080p.S148Nc.443G>ASubstitution - Missense
KIR3DL2ENSG00000240403ENST00000326321p.E78Dc.234G>CSubstitution - Missense
ENST00000338994p.E231Kc.691G>ASubstitution - Missense
SU_EPHA6p.N591Nc.1773C>TSubstitution - coding silent
IDUAENSG00000127415ENST00000247933p.L56fs*7c.164_165insCInsertion - Frameshift
TMEM256-PLSCR3ENSG00000187838ENST00000324822p.S195Fc.584C>TSubstitution - Missense
AMZ2ENSG00000196704ENST00000359783p.V129Fc.385G>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.R2839Qc.8516G>ASubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.T296Tc.888C>TSubstitution - coding silent
SLC38A7ENSG00000103042ENST00000219320p.P238Pc.714G>ASubstitution - coding silent
STXBP5ENSG00000164506ENST00000367481p.P1046Sc.3136C>TSubstitution - Missense
SLC1A5ENSG00000105281ENST00000542575p.S425Sc.1275C>TSubstitution - coding silent
TICAM1ENSG00000127666ENST00000248244p.S269Nc.806G>ASubstitution - Missense
SLC26A5ENSG00000170615ENST00000306312p.D732Dc.2196C>TSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.?c.82+1G>TUnknown
MTAPENSG00000099810ENST00000380172p.N243Nc.729C>TSubstitution - coding silent
CCDC12ENSG00000160799ENST00000292314p.R21Qc.62G>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000537121p.R673Hc.2018G>ASubstitution - Missense
ENST00000571252_v68p.P462Sc.1384C>TSubstitution - Missense
KIF20AENSG00000112984ENST00000394894p.F459Fc.1377C>TSubstitution - coding silent
MAGEA4ENSG00000147381ENST00000276344p.N85Kc.255T>ASubstitution - Missense
BPHLENSG00000137274ENST00000380375p.P218Pc.654C>TSubstitution - coding silent
TRIM10ENSG00000204613ENST00000449742p.E158fs*11c.473_474delAGDeletion - Frameshift
MRPL32ENSG00000106591ENST00000223324p.R91Rc.273G>ASubstitution - coding silent
ATP13A4ENSG00000127249ENST00000295548p.?c.1272+10C>TUnknown
AP2M1ENSG00000161203ENST00000292807p.?c.74_75-2del1789Unknown
DBN1ENSG00000113758ENST00000292385p.H449Qc.1347C>GSubstitution - Missense
DBN1ENSG00000113758ENST00000309007p.H447Qc.1341C>GSubstitution - Missense
MEP1AENSG00000112818ENST00000230588p.G352Rc.1054G>ASubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.R835Rc.2505C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.N3812Sc.11435A>GSubstitution - Missense
ST7LENSG00000007341ENST00000343210p.K296Tc.887A>CSubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.I231Ic.693C>TSubstitution - coding silent
GH2ENSG00000136487ENST00000332800p.P31Pc.93C>TSubstitution - coding silent
ENST00000414315p.H61Rc.182A>GSubstitution - Missense
SCPEP1ENSG00000121064ENST00000262288p.E90fs*36c.267delGDeletion - Frameshift
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
RPH3AENSG00000089169ENST00000389385p.D636Nc.1906G>ASubstitution - Missense
EPSTI1ENSG00000133106ENST00000313640p.S52Tc.154T>ASubstitution - Missense
NRP1ENSG00000099250ENST00000265371p.T548Ic.1643C>TSubstitution - Missense
TSNAXENSG00000116918ENST00000413309p.Y82Cc.245A>GSubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.P10Tc.28C>ASubstitution - Missense
RGS4ENSG00000117152ENST00000421743p.K196Rc.587A>GSubstitution - Missense
KIAA1522ENSG00000162522ENST00000373480p.S673Sc.2019C>TSubstitution - coding silent
PDS5BENSG00000083642ENST00000315596p.S697Nc.2090G>ASubstitution - Missense
DIABLOENSG00000184047ENST00000443649p.K32Nc.96G>TSubstitution - Missense
ZMYND11ENSG00000015171ENST00000558098p.?c.1228-8C>TUnknown
LRRC18ENSG00000165383ENST00000374160p.T25Nc.74C>ASubstitution - Missense
GPATCH2LENSG00000089916ENST00000312858p.K268Kc.804G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.A1585Ac.4755C>ASubstitution - coding silent
AKAP6ENSG00000151320ENST00000280979p.K1250Kc.3750G>ASubstitution - coding silent
NPAS3ENSG00000151322ENST00000356141p.N115Nc.345C>TSubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.R302Rc.906G>ASubstitution - coding silent
KIAA0586ENSG00000100578ENST00000261244p.N28Kc.84T>GSubstitution - Missense
UBASH3BENSG00000154127ENST00000284273p.Y167Cc.500A>GSubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.D1638Ec.4914C>ASubstitution - Missense
ENST00000336585p.P192Sc.574C>TSubstitution - Missense
CCDC27ENSG00000162592ENST00000294600p.?c.711+10G>AUnknown
NT5DC3ENSG00000111696ENST00000392876p.F480Fc.1440C>TSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.R2985Wc.8953C>TSubstitution - Missense
POU2F1ENSG00000143190ENST00000367866p.S383Lc.1148C>TSubstitution - Missense
METTL15ENSG00000169519ENST00000407364p.P205Lc.614C>TSubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.G1581Ec.4742G>ASubstitution - Missense
KTN1ENSG00000126777ENST00000416613p.E1005Ec.3015G>ASubstitution - coding silent
KPRPENSG00000203786ENST00000368773p.D558Gc.1673A>GSubstitution - Missense
CYP2J2ENSG00000134716ENST00000371204p.D105Nc.313G>ASubstitution - Missense
GLMNENSG00000174842ENST00000370360p.K532Tc.1595A>CSubstitution - Missense
ENST00000331986p.Q315Qc.945G>ASubstitution - coding silent
C1orf141ENSG00000203963ENST00000371007p.L306Lc.916C>TSubstitution - coding silent
NM_003685.1p.G246Gc.738C>ASubstitution - coding silent
LMOD2ENSG00000170807ENST00000458573p.R7Qc.20G>ASubstitution - Missense
KRTAP10-2ENSG00000205445ENST00000391621p.V46Vc.138C>TSubstitution - coding silent
TRIM24ENSG00000122779ENST00000343526p.V194Vc.582A>GSubstitution - coding silent
EMILIN1ENSG00000138080ENST00000380320p.S752Fc.2255C>TSubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.N685Nc.2055C>TSubstitution - coding silent
ZNF416ENSG00000083817ENST00000196489p.R50Wc.148A>TSubstitution - Missense
UNC5DENSG00000156687ENST00000404895p.R829Qc.2486G>ASubstitution - Missense
CDH9ENSG00000113100ENST00000231021p.S214Sc.642A>TSubstitution - coding silent
CCDC108ENSG00000181378ENST00000341552p.G1758Rc.5272G>ASubstitution - Missense
RELNENSG00000189056ENST00000343529p.R2104Cc.6310C>TSubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.L2097Lc.6291G>ASubstitution - coding silent
COL6A6ENSG00000206384ENST00000358511p.L1004Fc.3010C>TSubstitution - Missense
CARTPTENSG00000164326ENST00000296777p.E50Kc.148G>ASubstitution - Missense
L3MBTL4ENSG00000154655ENST00000400105p.N181Dc.541A>GSubstitution - Missense
GKAP1ENSG00000165113ENST00000376371p.V275Ic.823G>ASubstitution - Missense
PSMD14ENSG00000115233ENST00000409682p.I33Vc.97A>GSubstitution - Missense
DYRK1BENSG00000105204ENST00000348817p.Q272Hc.816G>TSubstitution - Missense
ENST00000301171p.R73Qc.218G>ASubstitution - Missense
ZNF223ENSG00000178386ENST00000434772p.V295Mc.883G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.E2395Kc.7183G>ASubstitution - Missense
SCN9AENSG00000169432ENST00000375387p.F1234Sc.3701T>CSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.R1740Tc.5219G>CSubstitution - Missense
TLR4ENSG00000136869ENST00000355622p.D428Nc.1282G>ASubstitution - Missense
OR4C16ENSG00000181935ENST00000314634p.S65Fc.194C>TSubstitution - Missense
TRIM22ENSG00000132274ENST00000379965p.L28Lc.84A>CSubstitution - coding silent
GPATCH2LENSG00000089916ENST00000556663p.K268Kc.804G>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000298274p.R653Gc.1957C>GSubstitution - Missense
GSNENSG00000148180ENST00000436847p.A248Vc.743C>TSubstitution - Missense
SORBS3ENSG00000120896ENST00000240123p.R476Cc.1426C>TSubstitution - Missense
UGT2B28ENSG00000135226ENST00000335568p.S421Lc.1262C>TSubstitution - Missense
GPN3ENSG00000111231ENST00000228827p.S49Sc.147C>TSubstitution - coding silent
BAZ2AENSG00000076108ENST00000379441p.?c.3153-7T>CUnknown
CCDC33ENSG00000140481ENST00000321288p.L705Rc.2114T>GSubstitution - Missense
VASH2ENSG00000143494ENST00000366965p.C156Gc.466T>GSubstitution - Missense
D2HGDHENSG00000180902ENST00000321264p.S343Lc.1028C>TSubstitution - Missense
FCRL2ENSG00000132704ENST00000361516p.?c.884-3C>AUnknown
LRRC16BENSG00000186648ENST00000342740p.L1077Rc.3230T>GSubstitution - Missense
IRF7ENSG00000185507ENST00000330243p.L231Hc.692T>ASubstitution - Missense
PPP1R32ENSG00000162148ENST00000338608p.L5Lc.15C>TSubstitution - coding silent
LRRC16BENSG00000186648ENST00000342740p.A384Ac.1152C>TSubstitution - coding silent
MYH6ENSG00000197616ENST00000356287p.K1167Tc.3500A>CSubstitution - Missense
SFXN3ENSG00000107819ENST00000224807p.?c.444-6C>GUnknown
NM_000696.2p.Y477Yc.1431T>CSubstitution - coding silent
ERCC4ENSG00000175595ENST00000311895p.S412Nc.1235G>ASubstitution - Missense
ETV6ENSG00000139083ENST00000396373p.R191Qc.572G>ASubstitution - Missense
DLATENSG00000150768ENST00000280346p.?c.278_280-3del446Unknown
TNNT2ENSG00000118194ENST00000458432p.K297Tc.890A>CSubstitution - Missense
TSHRENSG00000165409ENST00000541158p.I515Vc.1543A>GSubstitution - Missense
SENP6ENSG00000112701ENST00000370014p.D703Dc.2109C>TSubstitution - coding silent
KITENSG00000157404ENST00000288135p.A794Ec.2381C>ASubstitution - Missense
PLEKHG2ENSG00000090924ENST00000409794p.A393Vc.1178C>TSubstitution - Missense
ABCF1ENSG00000204574ENST00000326195p.?c.1017-6C>TUnknown
USHBP1ENSG00000130307ENST00000252597p.Q483*c.1447C>TSubstitution - Nonsense
SPTAN1ENSG00000197694ENST00000372739p.?c.7160+4_7160+7delaattUnknown
ACAD10ENSG00000111271ENST00000455480p.R820Hc.2459G>ASubstitution - Missense
MYO5AENSG00000197535ENST00000358212p.Q1276Hc.3828G>CSubstitution - Missense
PMFBP1ENSG00000118557ENST00000355636p.V177Mc.529G>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.A1200Vc.3599C>TSubstitution - Missense
IREB2ENSG00000136381ENST00000258886p.T824Mc.2471C>TSubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.E356*c.1066G>TSubstitution - Nonsense
CCDC33ENSG00000140481ENST00000268082p.L95Rc.284T>GSubstitution - Missense
MIXL1ENSG00000185155ENST00000366810p.R142Lc.425G>TSubstitution - Missense
MYBPC3ENSG00000134571ENST00000399249p.Y434Yc.1302C>TSubstitution - coding silent
TXLNAENSG00000084652ENST00000373609p.L467Lc.1399C>TSubstitution - coding silent
GPATCH2LENSG00000089916ENST00000261530p.K268Kc.804G>ASubstitution - coding silent
PPP1R15BENSG00000158615ENST00000367188p.E288Kc.862G>ASubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000541076p.R459*c.1375C>TSubstitution - Nonsense
ILF2ENSG00000143621ENST00000361891p.Q217*c.649C>TSubstitution - Nonsense
EGLN3ENSG00000129521ENST00000250457p.R193Rc.579G>ASubstitution - coding silent
BTBD3ENSG00000132640ENST00000378226p.F235Fc.705C>TSubstitution - coding silent
RGAG1ENSG00000243978ENST00000465301p.Q1204Pc.3611A>CSubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.D192Nc.574G>ASubstitution - Missense
LGALS3BPENSG00000108679ENST00000262776p.T173Mc.518C>TSubstitution - Missense
ZNF596ENSG00000172748ENST00000308811p.H363Yc.1087C>TSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.H386Rc.1157A>GSubstitution - Missense
KSR1ENSG00000141068ENST00000319524p.P290Sc.868C>TSubstitution - Missense
SU_KSR1p.P290Sc.868C>TSubstitution - Missense
LPCAT2ENSG00000087253ENST00000262134p.S194Sc.582C>TSubstitution - coding silent
MYOM1ENSG00000101605ENST00000356443p.T1632Tc.4896C>TSubstitution - coding silent
TLR1ENSG00000174125ENST00000308979p.G417Vc.1250G>TSubstitution - Missense
SUN5ENSG00000167098ENST00000356173p.?c.78-7T>GUnknown
NEK10ENSG00000163491ENST00000341435p.?c.1029-3C>TUnknown
VITENSG00000205221ENST00000379242p.V60Vc.180G>ASubstitution - coding silent
ABCA9ENSG00000154258ENST00000340001p.?c.3148-9C>TUnknown
IL1RAPL1ENSG00000169306ENST00000378993p.?c.1201+4G>AUnknown
CDH18ENSG00000145526ENST00000507958p.R441Gc.1321A>GSubstitution - Missense
C7orf26ENSG00000146576ENST00000344417p.L262Lc.786A>GSubstitution - coding silent
ANKRD12ENSG00000101745ENST00000262126p.R1308Qc.3923G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.R653Gc.1957C>GSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.P342Lc.1025C>TSubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.M465Lc.1393A>TSubstitution - Missense
RNF20ENSG00000155827ENST00000389120p.S606Fc.1817C>TSubstitution - Missense
SLC2A2ENSG00000163581ENST00000314251p.G416Sc.1246G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.P824Sc.2470C>TSubstitution - Missense
ANXA6ENSG00000197043ENST00000356496p.A249Dc.746C>ASubstitution - Missense
CCDC39ENSG00000145075ENST00000273654p.Q319Qc.957G>ASubstitution - coding silent
SERPINB6ENSG00000124570ENST00000380520p.R242Kc.725G>ASubstitution - Missense
ENST00000316490p.I1549Mc.4647C>GSubstitution - Missense
C19orf47ENSG00000160392ENST00000582783p.P59Sc.175C>TSubstitution - Missense
POLD2ENSG00000106628ENST00000406581p.L467Lc.1399C>TSubstitution - coding silent
WFDC6ENSG00000243543ENST00000372670p.P8Lc.23C>TSubstitution - Missense
UBA6ENSG00000033178ENST00000322244p.S351Lc.1052C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.C1692Sc.5075G>CSubstitution - Missense
ENST00000316490p.W627*c.1881G>ASubstitution - Nonsense
OSTNENSG00000188729ENST00000339051p.G39Rc.115G>ASubstitution - Missense
CCDC173ENSG00000154479ENST00000447353p.L258fs*10c.764_765insAInsertion - Frameshift
ENST00000309584_v70p.S268Lc.803C>TSubstitution - Missense
DDR1ENSG00000204580ENST00000361741p.P236Lc.707C>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.H193Rc.578A>GSubstitution - Missense
ITPKBENSG00000143772ENST00000429204p.S176Pc.526T>CSubstitution - Missense
TMEM72ENSG00000187783ENST00000389583p.S145Fc.434C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.P584Rc.1751C>GSubstitution - Missense
ENST00000274705p.I258Vc.772A>GSubstitution - Missense
ZNF775ENSG00000196456ENST00000329630p.C193Cc.579C>TSubstitution - coding silent
DYRK1BENSG00000105204ENST00000593685p.Q272Hc.816G>TSubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.?c.9001-9C>TUnknown
ECM2ENSG00000106823ENST00000344604p.M202Ic.606G>ASubstitution - Missense
DPP6ENSG00000130226ENST00000377770p.A148Gc.443C>GSubstitution - Missense
ZNF454ENSG00000178187ENST00000320129p.G390Wc.1168G>TSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.L484Pc.1451T>CSubstitution - Missense
ZNF572ENSG00000180938ENST00000319286p.G436Gc.1308A>TSubstitution - coding silent
CPN2ENSG00000178772ENST00000323830p.P486Pc.1458C>GSubstitution - coding silent
OR51Q1ENSG00000167360ENST00000300778p.G108Ec.323G>ASubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.R835Lc.2504G>TSubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.R748Cc.2242C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.R2579Gc.7735A>GSubstitution - Missense
SPAG9ENSG00000008294ENST00000505279p.P577Sc.1729C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000361724p.R653Gc.1957C>GSubstitution - Missense
SLC29A1ENSG00000112759ENST00000313248p.P409Sc.1225C>TSubstitution - Missense
MAGEB18ENSG00000176774ENST00000325250p.E286Gc.857A>GSubstitution - Missense
KCNA6ENSG00000151079ENST00000280684p.H235Yc.703C>TSubstitution - Missense
KCNH2ENSG00000055118ENST00000330883p.D372Nc.1114G>ASubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.P1667Pc.5001C>TSubstitution - coding silent
UBAP2ENSG00000137073ENST00000379238p.S128Sc.384G>TSubstitution - coding silent
ANKIB1ENSG00000001629ENST00000265742p.E550Kc.1648G>ASubstitution - Missense
S1PR1ENSG00000170989ENST00000305352p.I170Fc.508A>TSubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.P350Pc.1050C>TSubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000392657p.?c.1034-3C>TUnknown
MAP3K12ENSG00000139625ENST00000547035p.L425Rc.1274T>GSubstitution - Missense
MYL6ENSG00000092841ENST00000547649p.?c.175_176-2del244Unknown
CCER1ENSG00000197651ENST00000358859p.P273Lc.818C>TSubstitution - Missense
ENST00000368643p.R335Cc.1003C>TSubstitution - Missense
CPEB1ENSG00000214575ENST00000398591p.G31Sc.91G>ASubstitution - Missense
ENST00000268134p.?c.1605-8C>TUnknown
WDR11ENSG00000120008ENST00000263461p.H934Yc.2800C>TSubstitution - Missense
NR2C1ENSG00000120798ENST00000333003p.?c.286-3_310>27Unknown
KIAA1522ENSG00000162522ENST00000401073p.S732Sc.2196C>TSubstitution - coding silent
CRTC3ENSG00000140577ENST00000268184p.P190Sc.568C>TSubstitution - Missense
MAPK8IP3ENSG00000138834ENST00000250894p.P943Rc.2828C>GSubstitution - Missense
DLATENSG00000150768ENST00000280346p.?c.1676_1678-3del972Unknown
TM7SF3ENSG00000064115ENST00000343028p.L85Fc.253C>TSubstitution - Missense
CYP4A22ENSG00000162365ENST00000371891p.?c.898-1G>AUnknown
RTN1ENSG00000139970ENST00000267484p.Y263Cc.788A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P6616Lc.19847C>TSubstitution - Missense
NSMAFENSG00000035681ENST00000038176p.S669Lc.2006C>TSubstitution - Missense
ZNF823ENSG00000197933ENST00000341191p.K333Nc.999A>TSubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.R237Hc.710G>ASubstitution - Missense
DSC3ENSG00000134762ENST00000434452p.L457Wc.1370T>GSubstitution - Missense
SLC14A1ENSG00000141469ENST00000436407p.G140Ec.419G>ASubstitution - Missense
RGS11ENSG00000076344ENST00000397770p.G362Rc.1084G>ASubstitution - Missense
TPTEENSG00000166157ENST00000361285p.S64Fc.191C>TSubstitution - Missense
ZNF583ENSG00000198440ENST00000291598p.H458Yc.1372C>TSubstitution - Missense
AMZ2ENSG00000196704ENST00000392720p.V187Fc.559G>TSubstitution - Missense
IL1RL2ENSG00000115598ENST00000264257p.?c.1136-3C>TUnknown
IL18RAPENSG00000115607ENST00000264260p.V326Vc.978C>TSubstitution - coding silent
FUT3ENSG00000171124ENST00000303225p.E347Ec.1041A>GSubstitution - coding silent
GAGE2DENSG00000240257ENST00000404720p.G24Wc.70G>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.E1487Kc.4459G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.T1855Sc.5564C>GSubstitution - Missense
ENST00000380689p.P7Lc.20C>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.G2692Rc.8074G>ASubstitution - Missense
ZUFSPENSG00000153975ENST00000368576p.?c.1689+4A>CUnknown
MCHR1ENSG00000128285ENST00000249016p.V298Vc.894G>ASubstitution - coding silent
PTPRKENSG00000152894ENST00000368213p.Q1185*c.3553C>TSubstitution - Nonsense
IRAK1BP1ENSG00000146243ENST00000369940p.T196Ic.587C>TSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.Y398Yc.1194C>TSubstitution - coding silent
ENST00000237275_v68p.E102Kc.304G>ASubstitution - Missense
NM_005395.2p.M1Ic.3G>ASubstitution - Missense
EML2ENSG00000125746ENST00000245925p.?c.1122+7C>AUnknown
GRID2IPENSG00000215045ENST00000457091p.H1074Hc.3222C>TSubstitution - coding silent
MUC3AENSG00000169894ENST00000319509p.P83Sc.247C>TSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.S1036Ic.3107G>TSubstitution - Missense
MCHR2ENSG00000152034ENST00000369212p.A324Vc.971C>TSubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.A413Tc.1237G>ASubstitution - Missense
VPS13AENSG00000197969ENST00000376634p.H493Yc.1477C>TSubstitution - Missense
KRT17ENSG00000128422ENST00000311208p.?c.432+1_433-1del1045Unknown
LRRC37BENSG00000185158ENST00000341671p.P238Lc.713C>TSubstitution - Missense
ATP11CENSG00000101974ENST00000361648p.I1077Mc.3231A>GSubstitution - Missense
CYP2A7ENSG00000198077ENST00000301146p.R77Qc.230G>ASubstitution - Missense
HYDINENSG00000157423ENST00000321489p.W627*c.1881G>ASubstitution - Nonsense
ANO8ENSG00000074855ENST00000159087p.L1021Qc.3062T>ASubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.?c.3327+10C>GUnknown
ZNF221ENSG00000159905ENST00000251269p.R141Kc.422G>ASubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.L64Lc.192C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.S4327Fc.12980C>TSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.V307Gc.920T>GSubstitution - Missense
GNL1ENSG00000204590ENST00000433809p.I195Ic.585C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.H193Rc.578A>GSubstitution - Missense
CYP4F2ENSG00000186115ENST00000221700p.R507Hc.1520G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.Q1805Kc.5413C>ASubstitution - Missense
OTOGLENSG00000165899ENST00000458043p.I4Tc.11T>CSubstitution - Missense
GZMHENSG00000100450ENST00000216338p.P102Sc.304C>TSubstitution - Missense
NYNRINENSG00000205978ENST00000382554p.L332Lc.996C>TSubstitution - coding silent
TMEM132AENSG00000006118ENST00000005286p.E249Kc.745G>ASubstitution - Missense
ADAMTS4ENSG00000158859ENST00000367996p.A490Vc.1469C>TSubstitution - Missense
TNFRSF8ENSG00000120949ENST00000263932p.H509Qc.1527C>GSubstitution - Missense
C11orf52ENSG00000149300ENST00000278601p.?c.33-9C>TUnknown
OGDHLENSG00000197444ENST00000374103p.G403Gc.1209C>TSubstitution - coding silent
IGSF21ENSG00000117154ENST00000251296p.P35Tc.103C>ASubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.A593Ac.1779G>ASubstitution - coding silent
RASAL2ENSG00000075391ENST00000367649p.T85Ic.254C>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.W520*c.1560G>ASubstitution - Nonsense
MEF2AENSG00000068305ENST00000453228p.Q415_Q420delQQQQQQc.1228_1245del18Deletion - In frame
UNC80ENSG00000144406ENST00000439458p.S542Fc.1625C>TSubstitution - Missense
ITGB3ENSG00000259207ENST00000435993p.G250Ec.749G>ASubstitution - Missense
SIGLEC7ENSG00000168995ENST00000317643p.G99Gc.297G>ASubstitution - coding silent
POT1ENSG00000128513ENST00000357628p.?c.1506-3C>TUnknown
CES1ENSG00000198848ENST00000360526p.L421Lc.1263G>ASubstitution - coding silent
CX3CL1ENSG00000006210ENST00000006053p.T272Mc.815C>TSubstitution - Missense
OR5K3ENSG00000206536ENST00000383695p.C239Sc.715T>ASubstitution - Missense
GSPT2ENSG00000189369ENST00000340438p.R585Cc.1753C>TSubstitution - Missense
MED12LENSG00000144893ENST00000474524p.S384Ac.1150T>GSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.L3439Lc.10317G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.S4327Fc.12980C>TSubstitution - Missense
SEMA3CENSG00000075223ENST00000265361p.S365Fc.1094C>TSubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.L227Lc.681C>TSubstitution - coding silent
SRRM2ENSG00000167978ENST00000301740p.E344Ec.1032G>ASubstitution - coding silent
NCKAP5ENSG00000176771ENST00000409261p.P752Pc.2256C>GSubstitution - coding silent
MAPK11ENSG00000185386ENST00000449719p.?c.171+8C>TUnknown
TAF2ENSG00000064313ENST00000378164p.?c.1413+8T>AUnknown
SOS1ENSG00000115904ENST00000426016p.P894Lc.2681C>TSubstitution - Missense
KCNIP4ENSG00000185774ENST00000382152p.R4Sc.12G>TSubstitution - Missense
ERP44ENSG00000023318ENST00000262455p.?c.875-4A>CUnknown
TMEM147ENSG00000105677ENST00000222284p.F174Fc.522C>TSubstitution - coding silent
ZNF461ENSG00000197808ENST00000396893p.A562Tc.1684G>ASubstitution - Missense
ZNF461ENSG00000197808ENST00000396893p.A435Tc.1303G>ASubstitution - Missense
BRCA1ENSG00000012048ENST00000357654p.I1058Vc.3172A>GSubstitution - Missense
EIF2AK2ENSG00000055332ENST00000233057p.T90Ac.268A>GSubstitution - Missense
TNIKENSG00000154310ENST00000436636p.R425Wc.1273C>TSubstitution - Missense
SLC2A2ENSG00000163581ENST00000314251p.M350Ic.1050G>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.I4773Mc.14319A>GSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.G1260Sc.3778G>ASubstitution - Missense
TNIKENSG00000154310ENST00000436636p.S726Sc.2178C>TSubstitution - coding silent
PLXNB3ENSG00000198753ENST00000538966p.?c.2206-6C>TUnknown
PRRC2AENSG00000204469ENST00000376033p.G860Rc.2578G>ASubstitution - Missense
ZNF222ENSG00000159885ENST00000187879p.R34Qc.101G>ASubstitution - Missense
PDE6BENSG00000133256ENST00000255622p.R705Rc.2115G>ASubstitution - coding silent
CRIP3ENSG00000146215ENST00000274990p.P125Sc.373C>TSubstitution - Missense
PALB2ENSG00000083093ENST00000261584p.R753fs*11c.2257delCDeletion - Frameshift
SYS1ENSG00000204070ENST00000372727p.R112Hc.335G>ASubstitution - Missense
ENST00000314583_v70p.A240Ac.720G>ASubstitution - coding silent
GSNENSG00000148180ENST00000373823p.A237Vc.710C>TSubstitution - Missense
ZDHHC5ENSG00000156599ENST00000287169p.P558Pc.1674G>ASubstitution - coding silent
CCDC12ENSG00000160799ENST00000425441p.R34Qc.101G>ASubstitution - Missense
SIDT1ENSG00000072858ENST00000393830p.A599Dc.1796C>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T3700Ac.11098A>GSubstitution - Missense
CLDN2ENSG00000165376ENST00000541806p.E162Ec.486G>ASubstitution - coding silent
SF3B1ENSG00000115524ENST00000335508p.S1207Lc.3620C>TSubstitution - Missense
PAN2ENSG00000135473ENST00000440411p.H841Rc.2522A>GSubstitution - Missense
ZNF485ENSG00000198298ENST00000374437p.S64Fc.191C>TSubstitution - Missense
TSACCENSG00000163467ENST00000368251p.A110Tc.328G>ASubstitution - Missense
VWFENSG00000110799ENST00000261405p.G880Ec.2639G>ASubstitution - Missense
TTC17ENSG00000052841ENST00000039989p.G129Cc.385G>TSubstitution - Missense
CPEB1ENSG00000214575ENST00000568128p.G106Sc.316G>ASubstitution - Missense
ACANENSG00000157766ENST00000439576p.?c.1605-8C>TUnknown
CTBP2ENSG00000175029ENST00000337195p.S330Sc.990A>GSubstitution - coding silent
C2CD3ENSG00000168014ENST00000313663p.P1221Lc.3662C>TSubstitution - Missense
ACSBG1ENSG00000103740ENST00000258873p.R3Pc.8G>CSubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.P819Lc.2456C>TSubstitution - Missense
IL25ENSG00000166090ENST00000329715p.P102Lc.305C>TSubstitution - Missense
NYNRINENSG00000205978ENST00000382554p.E1823Kc.5467G>ASubstitution - Missense
FLT1ENSG00000102755ENST00000541932p.K116Tc.347A>CSubstitution - Missense
ZAR1LENSG00000189167ENST00000345108p.Q218*c.652C>TSubstitution - Nonsense
BAI2ENSG00000121753ENST00000373658p.L1048Lc.3144G>TSubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.S1976Tc.5927G>CSubstitution - Missense
SLC29A3ENSG00000198246ENST00000373189p.L235Lc.703C>TSubstitution - coding silent
ESRRBENSG00000119715ENST00000380887p.S42Sc.126C>TSubstitution - coding silent
ENST00000417177p.L1030Rc.3089T>GSubstitution - Missense
PAPLNENSG00000100767ENST00000427855p.A487Tc.1459G>ASubstitution - Missense
KIAA0430ENSG00000166783ENST00000344181p.L1181Fc.3541C>TSubstitution - Missense
RPP38ENSG00000152464ENST00000378203p.A252Vc.755C>TSubstitution - Missense
METTL15ENSG00000169519ENST00000303459p.P205Lc.614C>TSubstitution - Missense
C11orf21ENSG00000110665ENST00000456145p.T120fs*4c.355_356insCInsertion - Frameshift
CCDC73ENSG00000186714ENST00000335185p.D559Gc.1676A>GSubstitution - Missense
C1SENSG00000182326ENST00000328916p.N266Sc.797A>GSubstitution - Missense
USP24ENSG00000162402ENST00000294383p.P2087Pc.6261G>ASubstitution - coding silent
CRNNENSG00000143536ENST00000271835p.G224Sc.670G>ASubstitution - Missense
KIAA0586ENSG00000100578ENST00000354386p.N40Kc.120T>GSubstitution - Missense
C14orf105ENSG00000100557ENST00000216445p.Q167Pc.500A>CSubstitution - Missense
ENST00000262017p.G297Ec.890G>ASubstitution - Missense
SYTL1ENSG00000142765ENST00000543823p.?c.341-2_341delagGUnknown
SEPT9ENSG00000184640ENST00000427177p.V172Gc.515T>GSubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.S520Sc.1560C>TSubstitution - coding silent
HGSENSG00000185359ENST00000329138p.H450Yc.1348C>TSubstitution - Missense
KCTD1ENSG00000134504ENST00000417602p.P727Pc.2181C>TSubstitution - coding silent
ZNF717ENSG00000227124ENST00000422325p.S18Fc.53C>TSubstitution - Missense
KRTAP4-2ENSG00000244537ENST00000377726p.Y116Yc.348C>TSubstitution - coding silent
KIR2DL4ENSG00000189013ENST00000345540p.R137Cc.409C>TSubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.D1870Nc.5608G>ASubstitution - Missense
SU_EPHA6p.E231Kc.691G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L2689Rc.8066T>GSubstitution - Missense
SU_NEK10p.?c.1029-3C>TUnknown
ENST00000508324_v68p.D99Nc.295G>ASubstitution - Missense
ZNF749ENSG00000186230ENST00000334181p.E439Vc.1316A>TSubstitution - Missense
FLNBENSG00000136068ENST00000357272p.T1198Mc.3593C>TSubstitution - Missense
TMEM192ENSG00000170088ENST00000506087p.R37Qc.110G>ASubstitution - Missense
HADHBENSG00000138029ENST00000545822p.?c.1321_1324-4del4346Unknown
NPHP3ENSG00000113971ENST00000343113p.P36Lc.107C>TSubstitution - Missense
FAM26DENSG00000164451ENST00000416171p.D116Dc.348C>TSubstitution - coding silent
PTPRKENSG00000152894ENST00000368227p.Q1196*c.3586C>TSubstitution - Nonsense
BPHLENSG00000137274ENST00000380379p.P235Pc.705C>TSubstitution - coding silent
MDC1ENSG00000137337ENST00000376406p.P1628Lc.4883C>TSubstitution - Missense
DDR1ENSG00000204580ENST00000361741p.R353Rc.1057C>ASubstitution - coding silent
HLA-AENSG00000206503ENST00000376806p.D140Nc.418G>ASubstitution - Missense
ENST00000354576p.F44Fc.132T>CSubstitution - coding silent
SLC17A2ENSG00000112337ENST00000377850p.?c.241-7C>TUnknown
HFEENSG00000010704ENST00000470149p.Q204Kc.610C>ASubstitution - Missense
ARMC10ENSG00000170632ENST00000323716p.L265Ic.793C>ASubstitution - Missense
ENST00000328843_v70p.L3439Lc.10317G>ASubstitution - coding silent
KCNT1ENSG00000107147ENST00000263604p.R81Rc.243G>CSubstitution - coding silent
CEP78ENSG00000148019ENST00000424347p.S629Fc.1886C>TSubstitution - Missense
UNC13BENSG00000198722ENST00000396787p.R233Qc.698G>ASubstitution - Missense
PLXNB3ENSG00000198753ENST00000538282p.?c.967-6C>TUnknown
ATP11CENSG00000101974ENST00000370543p.I1077Mc.3231A>GSubstitution - Missense
P2RX2ENSG00000187848ENST00000343948p.D233Nc.697G>ASubstitution - Missense
PTCHD3ENSG00000182077ENST00000438700p.E103Kc.307G>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.E509*c.1525G>TSubstitution - Nonsense
NRP1ENSG00000099250ENST00000374816p.T548Ic.1643C>TSubstitution - Missense
MYL6ENSG00000092841ENST00000550697p.?c.3+1_32-4>25Unknown
NM_053025p.E1066Vc.3197A>TSubstitution - Missense
TRIM68ENSG00000167333ENST00000300747p.P450Sc.1348C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.S1176Sc.3528A>GSubstitution - coding silent
RCOR1ENSG00000089902ENST00000570597p.?c.1181-6C>TUnknown
CTBP2ENSG00000175029ENST00000309035p.S870Sc.2610A>GSubstitution - coding silent
ACSL5ENSG00000197142ENST00000356116p.G720Ec.2159G>ASubstitution - Missense
DAGLAENSG00000134780ENST00000257215p.A748Ac.2244G>ASubstitution - coding silent
SUCOENSG00000094975ENST00000367723p.L89Vc.265C>GSubstitution - Missense
C10orf71ENSG00000177354ENST00000323868p.Q76Qc.228G>ASubstitution - coding silent
RITA1ENSG00000139405ENST00000549621p.A178Vc.533C>TSubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.F752Fc.2256C>TSubstitution - coding silent
SU_SMG1p.F748Fc.2244C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.L1025Rc.3074T>GSubstitution - Missense
SOX5ENSG00000134532ENST00000451604p.V351Ic.1051G>ASubstitution - Missense
TM7SF3ENSG00000064115ENST00000343028p.L84Lc.252C>TSubstitution - coding silent
HIF1AENSG00000100644ENST00000337138p.S28Yc.83C>ASubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.?c.2521-8G>TUnknown
SEPT9ENSG00000184640ENST00000329047p.V154Gc.461T>GSubstitution - Missense
UNC13BENSG00000198722ENST00000378495p.R221Qc.662G>ASubstitution - Missense
ACO1ENSG00000122729ENST00000379923p.P373Sc.1117C>TSubstitution - Missense
PER1ENSG00000179094ENST00000317276p.P954Sc.2860C>TSubstitution - Missense
CEP95ENSG00000258890ENST00000556440p.R153Rc.459A>GSubstitution - coding silent
CCDC151ENSG00000198003ENST00000356392p.R188Hc.563G>ASubstitution - Missense
KRTAP25-1ENSG00000232263ENST00000416044p.T101fs*>2c.302delCDeletion - Frameshift
CADM2ENSG00000175161ENST00000405615p.A84Pc.250G>CSubstitution - Missense
SLC39A4ENSG00000147804ENST00000301305p.E216Kc.646G>ASubstitution - Missense
CLTCL1ENSG00000070371ENST00000263200p.I1033Ic.3099C>TSubstitution - coding silent
SLC14A1ENSG00000141469ENST00000321925p.G84Ec.251G>ASubstitution - Missense
ZNF276ENSG00000158805ENST00000289816p.V155Vc.465C>TSubstitution - coding silent
ENST00000570743p.D1870Nc.5608G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.R2839Qc.8516G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.R1091Cc.3271C>TSubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.R824Qc.2471G>ASubstitution - Missense
FOXD4L1ENSG00000184492ENST00000306507p.F203Lc.609C>GSubstitution - Missense
CDCA7LENSG00000164649ENST00000406877p.K359Ec.1075A>GSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.L1697Lc.5091G>ASubstitution - coding silent
EPHB1ENSG00000154928ENST00000398015p.L666Qc.1997T>ASubstitution - Missense
CCDC171ENSG00000164989ENST00000380701p.P740Lc.2219C>TSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.V469Lc.1405G>CSubstitution - Missense
TRA2BENSG00000136527ENST00000453386p.S64Fc.191C>TSubstitution - Missense
TMEM192ENSG00000170088ENST00000306480p.R41Qc.122G>ASubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.K4Kc.12A>GSubstitution - coding silent
ADAM29ENSG00000168594ENST00000359240p.S802Sc.2406C>TSubstitution - coding silent
MSX2ENSG00000120149ENST00000239243p.S152Sc.456C>TSubstitution - coding silent
RNF180ENSG00000164197ENST00000389100p.P175Sc.523C>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.E2308Kc.6922G>ASubstitution - Missense
TTBK1ENSG00000146216ENST00000259750p.D513Dc.1539C>TSubstitution - coding silent
CRIP3ENSG00000146215ENST00000372569p.P125Sc.373C>TSubstitution - Missense
ENST00000373990p.P555Sc.1663C>TSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.P56Sc.166C>TSubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.Y412Yc.1236T>CSubstitution - coding silent
SLC29A1ENSG00000112759ENST00000371708p.P330Sc.988C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.C1692Sc.5075G>CSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.H193Rc.578A>GSubstitution - Missense
ITFG3ENSG00000167930ENST00000450082p.I512Ic.1536C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.R1091Cc.3271C>TSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.P782Sc.2344C>TSubstitution - Missense
C10orf90ENSG00000154493ENST00000544758p.R683Cc.2047C>TSubstitution - Missense
ABLIM1ENSG00000099204ENST00000277895p.P192Sc.574C>TSubstitution - Missense
PTPRMENSG00000173482ENST00000400060p.V1121Ic.3361G>ASubstitution - Missense
OR51B2ENSG00000184881ENST00000328813p.P9Sc.25C>TSubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.Y434Yc.1302C>TSubstitution - coding silent
TTC17ENSG00000052841ENST00000299240p.G129Cc.385G>TSubstitution - Missense
OR5I1ENSG00000167825ENST00000301532p.A127Ac.381C>TSubstitution - coding silent
CLP1ENSG00000172409ENST00000533682p.L278Lc.832C>TSubstitution - coding silent
ENST00000545759p.I144Ic.432C>TSubstitution - coding silent
SHANK2ENSG00000162105ENST00000423696p.P1016Hc.3047C>ASubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000302349p.R459*c.1375C>TSubstitution - Nonsense
NELL2ENSG00000184613ENST00000395487p.R568Rc.1704T>GSubstitution - coding silent
SYT6ENSG00000134207ENST00000393296p.S265Fc.794C>TSubstitution - Missense
OLFM3ENSG00000118733ENST00000359814p.L32Lc.96G>TSubstitution - coding silent
CD1EENSG00000158488ENST00000434258p.G111Sc.331G>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.F159Fc.477C>TSubstitution - coding silent
ARHGEF2ENSG00000116584ENST00000368315p.F160Fc.480C>TSubstitution - coding silent
TNNT2ENSG00000118194ENST00000360372p.K283Tc.848A>CSubstitution - Missense
CRB1ENSG00000134376ENST00000535699p.A524Ac.1572G>ASubstitution - coding silent
ITPKBENSG00000143772ENST00000366784p.S176Pc.526T>CSubstitution - Missense
TMEM200BENSG00000253304ENST00000521452p.R204Rc.612G>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.I2386Ic.7158C>TSubstitution - coding silent
HEATR5AENSG00000129493ENST00000404677p.V992Vc.2976G>TSubstitution - coding silent
NFATC4ENSG00000100968ENST00000555453p.P241Sc.721C>TSubstitution - Missense
ENSG00000228157ENST00000443876p.E52Kc.154G>ASubstitution - Missense
ENST00000395988p.P484Lc.1451C>TSubstitution - Missense
BCAR1ENSG00000050820ENST00000393422p.G144Ac.431G>CSubstitution - Missense
CHST5ENSG00000135702ENST00000541075p.G341Sc.1021G>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000559488p.G297Ec.890G>ASubstitution - Missense
ATP6V0A1ENSG00000033627ENST00000264649p.G461Sc.1381G>ASubstitution - Missense
RECQL5ENSG00000108469ENST00000317905p.R687Wc.2059C>TSubstitution - Missense
SEPT9ENSG00000184640ENST00000423034p.T101Sc.302C>GSubstitution - Missense
UNC13AENSG00000130477ENST00000252773p.P431Lc.1292C>TSubstitution - Missense
SLC1A5ENSG00000105281ENST00000434726p.S223Sc.669C>TSubstitution - coding silent
EML2ENSG00000125746ENST00000536630p.?c.1563+7C>AUnknown
FUT6ENSG00000156413ENST00000592563p.L63Lc.189G>ASubstitution - coding silent
TTC3ENSG00000182670ENST00000540756p.A169Gc.506C>GSubstitution - Missense
LSM14BENSG00000149657ENST00000253001p.Y312Yc.936T>CSubstitution - coding silent
AP1B1ENSG00000100280ENST00000415447p.R857Tc.2570G>CSubstitution - Missense
PPP6R2ENSG00000100239ENST00000216061p.A840Pc.2518G>CSubstitution - Missense
WIPF1ENSG00000115935ENST00000272746p.G132Rc.394G>ASubstitution - Missense
WIPF1ENSG00000115935ENST00000409891p.G132Rc.394G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.I513Vc.1537A>GSubstitution - Missense
MED12LENSG00000144893ENST00000309237p.S384Ac.1150T>GSubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.P723Sc.2167C>TSubstitution - Missense
ARPP21ENSG00000172995ENST00000458225p.L583Fc.1747C>TSubstitution - Missense
BAG6ENSG00000204463ENST00000375976p.S181Sc.543C>TSubstitution - coding silent
BAG6ENSG00000204463ENST00000404765p.S181Sc.543C>TSubstitution - coding silent
ANKRD7ENSG00000106013ENST00000357099p.P224Pc.672A>TSubstitution - coding silent
ENST00000257721p.R42Sc.124C>ASubstitution - Missense
OR2F1ENSG00000213215ENST00000392899p.G2Rc.4G>ASubstitution - Missense
KELENSG00000197993ENST00000355265p.D102Gc.305A>GSubstitution - Missense
PDIA4ENSG00000155660ENST00000286091p.P231Sc.691C>TSubstitution - Missense
PRKAG2ENSG00000106617ENST00000287878p.P197Pc.591C>TSubstitution - coding silent
PRKAG2ENSG00000106617ENST00000433631p.P73Pc.219C>TSubstitution - coding silent
AGAP3ENSG00000133612ENST00000397238p.G522Dc.1565G>ASubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.P69fs*3c.204delCDeletion - Frameshift
KCNH2ENSG00000055118ENST00000430723p.D712Nc.2134G>ASubstitution - Missense
C7orf69ENSG00000136275ENST00000258776p.A108Tc.322G>ASubstitution - Missense
ADCY1ENSG00000164742ENST00000297323p.?c.2074-3C>TUnknown
RP1L1ENSG00000183638ENST00000382483p.P2104Pc.6312A>GSubstitution - coding silent
RIMS2ENSG00000176406ENST00000436393p.I1113Ic.3339C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000406091p.L662Ic.1984C>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.L440Ic.1318C>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.L470Ic.1408C>ASubstitution - Missense
PHLPP2ENSG00000040199ENST00000356272p.K163Kc.489G>ASubstitution - coding silent
ENST00000316490_v65p.W627*c.1881G>ASubstitution - Nonsense
HYDINENSG00000157423ENST00000393550p.W642*c.1926G>ASubstitution - Nonsense
HYDINENSG00000157423ENST00000288168p.W644*c.1932G>ASubstitution - Nonsense
TSC2ENSG00000103197ENST00000219476p.L484Pc.1451T>CSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.I18Ic.54C>TSubstitution - coding silent
PMFBP1ENSG00000118557ENST00000237353p.V322Mc.964G>ASubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.I778Vc.2332A>GSubstitution - Missense
PALB2ENSG00000083093ENST00000261584p.Q460Rc.1379A>GSubstitution - Missense
APC2ENSG00000115266ENST00000233607p.R903Rc.2707C>ASubstitution - coding silent
NDUFB7ENSG00000099795ENST00000215565p.G30Cc.88G>TSubstitution - Missense
RFX1ENSG00000132005ENST00000254325p.V105Vc.315C>TSubstitution - coding silent
C19orf57ENSG00000132016ENST00000346736p.A66Vc.197C>TSubstitution - Missense
C19orf57ENSG00000132016ENST00000346736p.L37Fc.111G>CSubstitution - Missense
OR7C2ENSG00000127529ENST00000248072p.P129Pc.387C>TSubstitution - coding silent
AKAP8ENSG00000105127ENST00000269701p.?c.1039-5T>CUnknown
NWD1ENSG00000188039ENST00000524140p.F1110Lc.3330C>GSubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.F975Lc.2925C>GSubstitution - Missense
ZNF574ENSG00000105732ENST00000359044p.H654Hc.1962C>TSubstitution - coding silent
ZNF222ENSG00000159885ENST00000391960p.R43Qc.128G>ASubstitution - Missense
CDC25BENSG00000101224ENST00000245960p.P287Sc.859C>TSubstitution - Missense
WFDC6ENSG00000243543ENST00000600168p.P8Lc.23C>TSubstitution - Missense
KIF5CENSG00000168280ENST00000435030p.?c.2550+3A>GUnknown
ENST00000334436p.?c.2259+3A>GUnknown
SRP72ENSG00000174780ENST00000342756p.?c.1502+1_1503-1del785Unknown
KITENSG00000157404ENST00000288135p.?c.1879+8C>TUnknown
JAKMIP1ENSG00000152969ENST00000409021p.Q249*c.745C>TSubstitution - Nonsense
AGMOENSG00000187546ENST00000342526p.R396Cc.1186C>TSubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.S801Sc.2403C>TSubstitution - coding silent
GGT5ENSG00000099998ENST00000327365p.P436Pc.1308C>TSubstitution - coding silent
SLC4A10ENSG00000144290ENST00000446997p.G328Dc.983G>ASubstitution - Missense
SLC4A10ENSG00000144290ENST00000375514p.G309Dc.926G>ASubstitution - Missense
SLC4A10ENSG00000144290ENST00000415876p.G298Dc.893G>ASubstitution - Missense
CCDC173ENSG00000154479ENST00000447353p.L258fs*10c.764_765insAInsertion - Frameshift
POLE3ENSG00000148229ENST00000374169p.?c.272-8C>TUnknown
SGCZENSG00000185053ENST00000382080p.H109Yc.325C>TSubstitution - Missense
AMBPENSG00000106927ENST00000265132p.Q30*c.88C>TSubstitution - Nonsense
COL27A1ENSG00000196739ENST00000356083p.L641Lc.1921C>TSubstitution - coding silent
ENST00000373969p.F560Fc.1680C>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000288520p.G139Ac.416G>CSubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.G1038Ac.3113G>CSubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.P1420Rc.4259C>GSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.?c.7145+4_7145+7delaattUnknown
AP2M1ENSG00000161203ENST00000292807p.?c.423+1_430-3>CATCUnknown
AP2M1ENSG00000161203ENST00000292807p.?c.1061+1_1062-1del508Unknown
KRT17ENSG00000128422ENST00000311208p.?c.1181+1_1205-1>23Unknown
KRT17ENSG00000128422ENST00000311208p.?c.834+1_835-1del501Unknown
ATP6V0A1ENSG00000033627ENST00000343619p.G454Sc.1360G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.R1220Qc.3659G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.R1243Qc.3728G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.R1243Qc.3728G>ASubstitution - Missense
SPAG9ENSG00000008294ENST00000357122p.P573Sc.1717C>TSubstitution - Missense
HEATR6ENSG00000068097ENST00000184956p.I957Ic.2871C>TSubstitution - coding silent
TRIM37ENSG00000108395ENST00000262294p.F843Fc.2529C>TSubstitution - coding silent
ZNF599ENSG00000153896ENST00000329285p.G398Sc.1192G>ASubstitution - Missense
ZNF345ENSG00000251247ENST00000420450p.P397Pc.1191C>TSubstitution - coding silent
ZNF568ENSG00000198453ENST00000455427p.G467Gc.1401G>ASubstitution - coding silent
SIENSG00000090402ENST00000264382p.T1755Ic.5264C>TSubstitution - Missense
PLD1ENSG00000075651ENST00000351298p.?c.2430-6T>CUnknown
TNIKENSG00000154310ENST00000436636p.R425Wc.1273C>TSubstitution - Missense
NAALADL2ENSG00000177694ENST00000454872p.?c.1991-4C>GUnknown
PCDHGA12ENSG00000253159ENST00000252085p.Y398Yc.1194C>TSubstitution - coding silent
LPCAT1ENSG00000153395ENST00000283415p.A515Vc.1544C>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.Q2480Hc.7440G>TSubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.H623Yc.1867C>TSubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.H623Yc.1867C>TSubstitution - Missense
KCNT1ENSG00000107147ENST00000298480p.R100Rc.300G>CSubstitution - coding silent
NOTCH1ENSG00000148400ENST00000277541p.L1201Lc.3603C>TSubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.Q759Pc.2276A>CSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.G1332Ec.3995G>ASubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.T776Ic.2327C>TSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.L184Lc.552A>CSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.L184Lc.552A>CSubstitution - coding silent
CEP78ENSG00000148019ENST00000277082p.S629Fc.1886C>TSubstitution - Missense
VPS13AENSG00000197969ENST00000360280p.H493Yc.1477C>TSubstitution - Missense
SUPT5HENSG00000196235ENST00000359191p.?c.1678-9C>TUnknown
NM_022835.1p.A351Vc.1052C>TSubstitution - Missense
PLEKHG2ENSG00000090924ENST00000458508p.A334Vc.1001C>TSubstitution - Missense
CNTD2ENSG00000105219ENST00000221818p.G149Gc.447G>CSubstitution - coding silent
ENST00000301171p.R73Rc.219G>ASubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.S153Nc.458G>ASubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.Q362Hc.1086A>CSubstitution - Missense
ATP11CENSG00000101974ENST00000327569p.I1077Mc.3231A>GSubstitution - Missense
MCF2ENSG00000101977ENST00000370578p.R869Qc.2606G>ASubstitution - Missense
XM_372267.3p.F221Fc.663C>TSubstitution - coding silent
FANCBENSG00000181544ENST00000324138p.I42Vc.124A>GSubstitution - Missense
FAM13BENSG00000031003ENST00000425075p.F13Vc.37T>GSubstitution - Missense
PLXNB3ENSG00000198753ENST00000361971p.?c.2137-6C>TUnknown
PCDHA7ENSG00000204963ENST00000525929p.S434Fc.1301C>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000378125p.S434Fc.1301C>TSubstitution - Missense
ANXA6ENSG00000197043ENST00000354546p.A197Dc.590C>ASubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.Q393*c.1177C>TSubstitution - Nonsense
KIF4BENSG00000226650ENST00000435029p.Q819Hc.2457G>CSubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.Q819Hc.2457G>CSubstitution - Missense
GABRA1ENSG00000022355ENST00000393943p.S271Fc.812C>TSubstitution - Missense
CCNG1ENSG00000113328ENST00000393929p.A19fs*9c.55_56insAATGInsertion - Frameshift
ATP10BENSG00000118322ENST00000327245p.R11Wc.31C>TSubstitution - Missense
GNL1ENSG00000204590ENST00000376621p.I197Ic.591C>TSubstitution - coding silent
TRIM10ENSG00000204613ENST00000449742p.E158fs*11c.473_474delAGDeletion - Frameshift
TRIM10ENSG00000204613ENST00000376704p.E158fs*11c.473_474delAGDeletion - Frameshift
CDSNENSG00000204539ENST00000376288p.G135Gc.405G>ASubstitution - coding silent
DDR1ENSG00000204580ENST00000376575p.P532Pc.1596C>TSubstitution - coding silent
DDR1ENSG00000204580ENST00000324771p.P532Pc.1596C>TSubstitution - coding silent
DDR1ENSG00000204580ENST00000376575p.R692Rc.2074C>ASubstitution - coding silent
DDR1ENSG00000204580ENST00000418800p.R649Rc.1945C>ASubstitution - coding silent
DDR1ENSG00000204580ENST00000376575p.R692Lc.2075G>TSubstitution - Missense
DDR1ENSG00000204580ENST00000324771p.R686Lc.2057G>TSubstitution - Missense
ENST00000539307p.T224Kc.671C>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.T187Kc.560C>ASubstitution - Missense
TROENSG00000067445ENST00000319167p.V375Lc.1123G>CSubstitution - Missense
MLLT3ENSG00000171843ENST00000380338p.I526Ic.1578C>TSubstitution - coding silent
COLGALT1ENSG00000130309ENST00000252599p.D193Dc.579T>CSubstitution - coding silent
JAK3ENSG00000105639ENST00000458235p.V469Lc.1405G>CSubstitution - Missense
FCHO1ENSG00000130475ENST00000252771p.S77Sc.231C>TSubstitution - coding silent
UNC13AENSG00000130477ENST00000519716p.P431Lc.1292C>TSubstitution - Missense
GMIPENSG00000089639ENST00000203556p.L98Qc.293T>ASubstitution - Missense
RELBENSG00000104856ENST00000221452p.P291Lc.872C>TSubstitution - Missense
BCAMENSG00000187244ENST00000270233p.G249Sc.745G>ASubstitution - Missense
PNMAL2ENSG00000204851ENST00000599531p.R528Rc.1584G>ASubstitution - coding silent
SPHK2ENSG00000063176ENST00000443164p.G373Sc.1117G>ASubstitution - Missense
GSG1LENSG00000169181ENST00000380897p.F43Lc.129C>GSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.?c.1032+1G>AUnknown
KIAA0556ENSG00000047578ENST00000261588p.S707Lc.2120C>TSubstitution - Missense
ZNF629ENSG00000102870ENST00000262525p.P489Lc.1466C>TSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.L1327Lc.3981G>ASubstitution - coding silent
ZNF48ENSG00000180035ENST00000320159p.P181Sc.541C>TSubstitution - Missense
UGGT1ENSG00000136731ENST00000259253p.S749Fc.2246C>TSubstitution - Missense
SIDT1ENSG00000072858ENST00000264852p.A599Dc.1796C>ASubstitution - Missense
CCDC80ENSG00000091986ENST00000206423p.D674Nc.2020G>ASubstitution - Missense
NPHP3ENSG00000113971ENST00000337331p.P36Lc.107C>TSubstitution - Missense
CSTAENSG00000121552ENST00000264474p.?c.168+10C>TUnknown
EPHB1ENSG00000154928ENST00000398015p.K516Nc.1548G>TSubstitution - Missense
SLCO2A1ENSG00000174640ENST00000310926p.A256Ac.768C>TSubstitution - coding silent
NUP210ENSG00000132182ENST00000254508p.H1227Qc.3681C>GSubstitution - Missense
CLSTN2ENSG00000158258ENST00000458420p.E900Ec.2700G>ASubstitution - coding silent
FREM3ENSG00000183090ENST00000329798p.R1433Rc.4299G>ASubstitution - coding silent
FHDC1ENSG00000137460ENST00000260008p.S821Yc.2462C>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.V1364Ac.4091T>CSubstitution - Missense
KCNIP4ENSG00000185774ENST00000447367p.R4Sc.12G>TSubstitution - Missense
PACRGLENSG00000163138ENST00000503585p.S219Rc.655A>CSubstitution - Missense
SLIT2ENSG00000145147ENST00000504154p.R617Rc.1851A>TSubstitution - coding silent
SLC25A48ENSG00000145832ENST00000274513p.S231Sc.693C>TSubstitution - coding silent
AFF4ENSG00000072364ENST00000265343p.?c.2638-6G>AUnknown
GPR98ENSG00000164199ENST00000405460p.P624Lc.1871C>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.E1748Kc.5242G>ASubstitution - Missense
SSTR3ENSG00000183473ENST00000328544p.R257Cc.769C>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.E1054Ec.3162G>ASubstitution - coding silent
FOXO3ENSG00000118689ENST00000343882p.T395Tc.1185G>ASubstitution - coding silent
SLC35F1ENSG00000196376ENST00000360388p.E237Kc.709G>ASubstitution - Missense
ENST00000368597_v68p.D74Dc.222C>TSubstitution - coding silent
FAM26DENSG00000164451ENST00000368596p.D260Dc.780C>TSubstitution - coding silent
LGSNENSG00000146166ENST00000485906p.E4Qc.10G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.H2001Yc.6001C>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.G2661Ec.7982G>ASubstitution - Missense
KHDC3LENSG00000203908ENST00000370367p.N82Ic.245A>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.H2041Yc.6121C>TSubstitution - Missense
COL15A1ENSG00000204291ENST00000375001p.T360fs*49c.1079delCDeletion - Frameshift
COL14A1ENSG00000187955ENST00000297848p.L89Fc.265C>TSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.?c.1413+8T>AUnknown
ACTL7AENSG00000187003ENST00000333999p.R352Rc.1056G>ASubstitution - coding silent
PTPRKENSG00000152894ENST00000368226p.Q1179*c.3535C>TSubstitution - Nonsense
MOXD1ENSG00000079931ENST00000367963p.?c.664-6G>TUnknown
MOXD1ENSG00000079931ENST00000336749p.?c.460-6G>TUnknown
TMEM244ENSG00000203756ENST00000368143p.P112Pc.336C>TSubstitution - coding silent
BMP6ENSG00000153162ENST00000283147p.G265Gc.795G>ASubstitution - coding silent
DSPENSG00000096696ENST00000379802p.?c.5378_5380-3del1072Unknown
SNAP91ENSG00000065609ENST00000369694p.G375Gc.1125A>TSubstitution - coding silent
SNAP91ENSG00000065609ENST00000439399p.G375Gc.1125A>TSubstitution - coding silent
SLFN11ENSG00000172716ENST00000394566p.W332*c.996G>ASubstitution - Nonsense
SLFN13ENSG00000154760ENST00000285013p.S211Fc.632C>TSubstitution - Missense
SOS1ENSG00000115904ENST00000426016p.P894Sc.2680C>TSubstitution - Missense
CEBPZENSG00000115816ENST00000234170p.M534Ic.1602G>TSubstitution - Missense
SRBD1ENSG00000068784ENST00000263736p.P55Pc.165T>GSubstitution - coding silent
USP53ENSG00000145390ENST00000274030p.?c.822+10C>TUnknown
MYOZ2ENSG00000172399ENST00000307128p.N25Nc.75T>CSubstitution - coding silent
INTUENSG00000164066ENST00000335251p.K277Ec.829A>GSubstitution - Missense
ENST00000330166p.E1487Kc.4459G>ASubstitution - Missense
CDH18ENSG00000145526ENST00000382275p.R441Gc.1321A>GSubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.K578Nc.1734G>TSubstitution - Missense
ZC2HC1BENSG00000118491ENST00000237275p.E6Kc.16G>ASubstitution - Missense
STXBP5ENSG00000164506ENST00000321680p.P1082Sc.3244C>TSubstitution - Missense
ENST00000367213p.D256Dc.768C>TSubstitution - coding silent
OPRM1ENSG00000112038ENST00000434900p.A49Ac.147C>TSubstitution - coding silent
SLC22A1ENSG00000175003ENST00000366963p.S333Lc.998C>TSubstitution - Missense
TENSG00000164458ENST00000296946p.P380Sc.1138C>TSubstitution - Missense
LPAENSG00000198670ENST00000316300p.I1940Fc.5818A>TSubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.A1490Tc.4468G>ASubstitution - Missense
KLHL7ENSG00000122550ENST00000339077p.D276Ac.827A>CSubstitution - Missense
KLHL7ENSG00000122550ENST00000322231p.D254Ac.761A>CSubstitution - Missense
HOXA5ENSG00000106004ENST00000222726p.G65Vc.194G>TSubstitution - Missense
KIAA1324LENSG00000164659ENST00000450689p.K836*c.2506A>TSubstitution - Nonsense
KIAA1324LENSG00000164659ENST00000297222p.K596*c.1786A>TSubstitution - Nonsense
SLC10A3ENSG00000126903ENST00000263512p.F450Fc.1350C>TSubstitution - coding silent
GREB1ENSG00000196208ENST00000381486p.D876Nc.2626G>ASubstitution - Missense
IWS1ENSG00000163166ENST00000295321p.E470Ec.1410A>GSubstitution - coding silent
DOCK10ENSG00000135905ENST00000258390p.E1104Kc.3310G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.I519Vc.1555A>GSubstitution - Missense
SP110ENSG00000135899ENST00000258381p.L170Lc.508C>TSubstitution - coding silent
RBM44ENSG00000177483ENST00000316997p.S83fs*2c.241delTDeletion - Frameshift
RBM44ENSG00000177483ENST00000316997p.S83fs*2c.241delTDeletion - Frameshift
SPTBN1ENSG00000115306ENST00000356805p.V2333Vc.6999C>TSubstitution - coding silent
MCM2ENSG00000073111ENST00000265056p.T557Tc.1671G>ASubstitution - coding silent
TMCC1ENSG00000172765ENST00000393238p.A538Ac.1614G>ASubstitution - coding silent
TMCC1ENSG00000172765ENST00000393238p.A538Ac.1614G>ASubstitution - coding silent
COPG1ENSG00000181789ENST00000314797p.C44Yc.131G>ASubstitution - Missense
GATA2ENSG00000179348ENST00000341105p.M400Lc.1198A>TSubstitution - Missense
TCF20ENSG00000100207ENST00000359486p.P1498Lc.4493C>TSubstitution - Missense
NUP50ENSG00000093000ENST00000347635p.T235Mc.704C>TSubstitution - Missense
MPPED1ENSG00000186732ENST00000538182p.Y214Nc.640T>ASubstitution - Missense
MAPK11ENSG00000185386ENST00000330651p.?c.495+8C>TUnknown
TUBGCP6ENSG00000128159ENST00000248846p.S1497Cc.4490C>GSubstitution - Missense
PPP6R2ENSG00000100239ENST00000359139p.A807Pc.2419G>CSubstitution - Missense
SLC6A20ENSG00000163817ENST00000358525p.P238Rc.713C>GSubstitution - Missense
SLC6A20ENSG00000163817ENST00000353278p.P201Rc.602C>GSubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.F910Fc.2730C>TSubstitution - coding silent
ADCY2ENSG00000078295ENST00000338316p.V791Dc.2372T>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000537121p.V611Dc.1832T>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.R853Hc.2558G>ASubstitution - Missense
FAM50BENSG00000145945ENST00000380274p.A134Tc.400G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.S1038fs*20c.3113_3114delGTDeletion - Frameshift
MUC12ENSG00000205277ENST00000536621p.S321Fc.962C>TSubstitution - Missense
ENST00000319509_v65p.P83Sc.247C>TSubstitution - Missense
SLC26A5ENSG00000170615ENST00000306312p.G187Rc.559G>ASubstitution - Missense
SLC26A5ENSG00000170615ENST00000339444p.G187Rc.559G>ASubstitution - Missense
LRWD1ENSG00000161036ENST00000292616p.A452Ac.1356C>TSubstitution - coding silent
MYL10ENSG00000106436ENST00000223167p.A162Tc.484G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.Q1903Pc.5708A>CSubstitution - Missense
ZNF138ENSG00000197008ENST00000440155p.?c.3+2T>CUnknown
RELNENSG00000189056ENST00000343529p.P1202Lc.3605C>TSubstitution - Missense
SLC26A5ENSG00000170615ENST00000306312p.G187Ec.560G>ASubstitution - Missense
SLC26A5ENSG00000170615ENST00000339444p.G187Ec.560G>ASubstitution - Missense
SLC26A5ENSG00000170615ENST00000393735p.G187Ec.560G>ASubstitution - Missense
CCZ1BENSG00000146574ENST00000316731p.T178Mc.533C>TSubstitution - Missense
ASLENSG00000126522ENST00000304874p.?c.656-4C>GUnknown
WBSCR28ENSG00000175877ENST00000320531p.G13Ec.38G>ASubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.D1023Nc.3067G>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.A2006Vc.6017C>TSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.H287Yc.859C>TSubstitution - Missense
ZNF616ENSG00000204611ENST00000330123p.V154Fc.460G>TSubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.S174Fc.521C>TSubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.S195Gc.583A>GSubstitution - Missense
ZNRF4ENSG00000105428ENST00000222033p.G43Gc.129G>ASubstitution - coding silent
ZNF512BENSG00000196700ENST00000369888p.A561Vc.1682C>TSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.S46Fc.137C>TSubstitution - Missense
RHBDD3ENSG00000100263ENST00000216085p.A229Vc.686C>TSubstitution - Missense
CHEK2ENSG00000183765ENST00000328354p.?c.1260-8A>GUnknown
RTCBENSG00000100220ENST00000216038p.P204Pc.612C>TSubstitution - coding silent
PRR14LENSG00000183530ENST00000327423p.M876Vc.2626A>GSubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.M876Vc.2626A>GSubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.S796Sc.2388C>TSubstitution - coding silent
VITENSG00000205221ENST00000457137p.V60Vc.180G>ASubstitution - coding silent
ENST00000405167p.L2689Rc.8066T>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S1143Fc.3428C>TSubstitution - Missense
ENST00000405167p.S1143Fc.3428C>TSubstitution - Missense
PP2D1ENSG00000183977ENST00000389050p.M240fs*1c.718delADeletion - Frameshift
NRROSENSG00000174004ENST00000328557p.L188Lc.562C>TSubstitution - coding silent
RNF168ENSG00000163961ENST00000318037p.E137Ec.411A>GSubstitution - coding silent
NEK10ENSG00000163491ENST00000429845p.?c.1029-3C>TUnknown
LAMTOR3ENSG00000109270ENST00000499666p.?c.103+9G>AUnknown
OR5H6ENSG00000230301ENST00000383696p.H260Yc.778C>TSubstitution - Missense
BDH2ENSG00000164039ENST00000296424p.I129delIc.386_388delTCADeletion - In frame
ENST00000318252p.R820Cc.2458C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.R1090Rc.3270C>TSubstitution - coding silent
ENST00000318252p.R819Rc.2457C>TSubstitution - coding silent
SLC20A2ENSG00000168575ENST00000342228p.V603Vc.1809G>CSubstitution - coding silent
ZNF41ENSG00000147124ENST00000313116p.K567Rc.1700A>GSubstitution - Missense
ELK1ENSG00000126767ENST00000247161p.S394Pc.1180T>CSubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.K867Kc.2601G>ASubstitution - coding silent
TMEM190ENSG00000160472ENST00000291934p.R77Wc.229C>TSubstitution - Missense
ZNF17ENSG00000186272ENST00000307658p.Y610Fc.1829A>TSubstitution - Missense
ENST00000380830p.E352Vc.1055A>TSubstitution - Missense
USP29ENSG00000131864ENST00000254181p.T699Kc.2096C>ASubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.P651Pc.1953C>TSubstitution - coding silent
FUT6ENSG00000156413ENST00000286955p.L63Lc.189G>ASubstitution - coding silent
HID1ENSG00000167861ENST00000425042p.P156Sc.466C>TSubstitution - Missense
TMEM256-PLSCR3ENSG00000187838ENST00000324822p.S266Sc.798C>TSubstitution - coding silent
TMEM256-PLSCR3ENSG00000187838ENST00000324822p.S195Sc.585C>TSubstitution - coding silent
ARSAENSG00000100299ENST00000395619p.A406Ac.1218C>TSubstitution - coding silent
UXS1ENSG00000115652ENST00000409501p.L309Lc.927C>GSubstitution - coding silent
RANBP2ENSG00000153201ENST00000283195p.N1619Sc.4856A>GSubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.S1934Sc.5802C>TSubstitution - coding silent
ENST00000333535_v68p.S1934Sc.5802C>TSubstitution - coding silent
SCN5AENSG00000183873ENST00000333535p.S1934Sc.5802C>TSubstitution - coding silent
UNC5CENSG00000182168ENST00000453304p.N80Kc.240C>ASubstitution - Missense
PDLIM5ENSG00000163110ENST00000380180p.R134Cc.400C>TSubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.R45Hc.134G>ASubstitution - Missense
ZNF705AENSG00000196946ENST00000402465p.D101Nc.301G>ASubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.H551fs*8c.1652_1658delATTGTGADeletion - Frameshift
CTNND2ENSG00000169862ENST00000304623p.S97Sc.291A>CSubstitution - coding silent
CDH5ENSG00000179776ENST00000341529p.R299Qc.896G>ASubstitution - Missense
PRSS54ENSG00000103023ENST00000219301p.?c.263+10C>TUnknown
CDH3ENSG00000062038ENST00000264012p.F96Fc.288C>TSubstitution - coding silent
ESRP2ENSG00000103067ENST00000473183p.F357Lc.1069T>CSubstitution - Missense
ENST00000319955p.A205Tc.613G>ASubstitution - Missense
ANKRD53ENSG00000144031ENST00000360589p.T213Mc.638C>TSubstitution - Missense
ANKRD53ENSG00000144031ENST00000272421p.T213Mc.638C>TSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.S2048Tc.6142T>ASubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.Q2940Rc.8819A>GSubstitution - Missense
TACR1ENSG00000115353ENST00000305249p.E367Ec.1101G>ASubstitution - coding silent
MBNL1ENSG00000152601ENST00000282486p.A366Ac.1098C>TSubstitution - coding silent
MBNL1ENSG00000152601ENST00000545754p.A292Ac.876C>TSubstitution - coding silent
UGT2A1ENSG00000173610ENST00000503640p.D150Nc.448G>ASubstitution - Missense
ABCC11ENSG00000121270ENST00000356608p.?c.4057-8C>TUnknown
ENSG00000174093ENST00000312412p.F390Fc.1170C>TSubstitution - coding silent
GSG2ENSG00000177602ENST00000325418p.I601Ic.1803T>CSubstitution - coding silent
GSG2ENSG00000177602ENST00000325418p.I601Ic.1803T>CSubstitution - coding silent
ZZEF1ENSG00000074755ENST00000381638p.L2000Lc.6000G>TSubstitution - coding silent
KRTAP16-1ENSG00000212657ENST00000391352p.C238Wc.714C>GSubstitution - Missense
ENST00000458321p.Y233Yc.699C>TSubstitution - coding silent
KRT25ENSG00000204897ENST00000312150p.R89Hc.266G>ASubstitution - Missense
KLF3ENSG00000109787ENST00000261438p.N268Sc.803A>GSubstitution - Missense
RIPPLY3ENSG00000183145ENST00000329553p.R88Hc.263G>ASubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.A479Gc.1436C>GSubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.Q1360Hc.4080G>CSubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.?c.1518+10G>CUnknown
ZNF721ENSG00000182903ENST00000511833p.K362*c.1084A>TSubstitution - Nonsense
BSNENSG00000164061ENST00000296452p.G1377Gc.4131C>TSubstitution - coding silent
RHOAENSG00000067560ENST00000418115p.Y66Dc.196T>GSubstitution - Missense
CCR6ENSG00000112486ENST00000400926p.F12Fc.36C>TSubstitution - coding silent
WDR27ENSG00000184465ENST00000448612p.Q427*c.1279C>TSubstitution - Nonsense
NM_214462.1p.T364Tc.1092C>TSubstitution - coding silent
DACT2ENSG00000164488ENST00000366795p.T772Ic.2315C>TSubstitution - Missense
NM_214462.1p.T364Ic.1091C>TSubstitution - Missense
HFEENSG00000010704ENST00000357618p.Q204Kc.610C>ASubstitution - Missense
TRIM24ENSG00000122779ENST00000415680p.V194Vc.582A>GSubstitution - coding silent
ENST00000378381p.V152Vc.456A>GSubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.R2103Hc.6308G>ASubstitution - Missense
ENST00000389322p.R257*c.769C>TSubstitution - Nonsense
OCM2ENSG00000135175ENST00000257627p.L36Hc.107T>ASubstitution - Missense
PPP1R9AENSG00000158528ENST00000433360p.P1213Lc.3638C>TSubstitution - Missense
NM_001702.1p.?c.2308+6C>TUnknown
SLC39A4ENSG00000147804ENST00000276833p.E191Kc.571G>ASubstitution - Missense
PARP10ENSG00000178685ENST00000313028p.E832Kc.2494G>ASubstitution - Missense
ENST00000360191p.K100Ec.298A>GSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.P2004Sc.6010C>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000398722p.I1618Ic.4854C>TSubstitution - coding silent
RNF152ENSG00000176641ENST00000312828p.D71Dc.213C>TSubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.Q168Kc.502C>ASubstitution - Missense
ANKRD30BENSG00000180777ENST00000447268p.Q168Kc.502C>ASubstitution - Missense
KIR3DL1ENSG00000167633ENST00000402254p.L312Fc.934C>TSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000359085p.R137Cc.409C>TSubstitution - Missense
NINLENSG00000101004ENST00000278886p.P897Lc.2690C>TSubstitution - Missense
RDH13ENSG00000160439ENST00000396247p.K191*c.571A>TSubstitution - Nonsense
ENST00000391409p.I10Mc.30A>GSubstitution - Missense
CCT8L2ENSG00000198445ENST00000359963p.H54Qc.162C>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.G21848Sc.65542G>ASubstitution - Missense
ENST00000356127p.G28218Sc.84652G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.G21915Sc.65743G>ASubstitution - Missense
NM_003319p.G21723Sc.65167G>ASubstitution - Missense
NM_003319p.S13866Nc.41597G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.S20363Nc.61088G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.S13991Nc.41972G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.S14058Nc.42173G>ASubstitution - Missense
ANKMY1ENSG00000144504ENST00000361678p.L451Fc.1351C>TSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.K1439*c.4315A>TSubstitution - Nonsense
TMEM131ENSG00000075568ENST00000186436p.K1326*c.3976A>TSubstitution - Nonsense
SENP7ENSG00000138468ENST00000394095p.P754Lc.2261C>TSubstitution - Missense
NM_020654.2p.P688Lc.2063C>TSubstitution - Missense
DPPA4ENSG00000121570ENST00000335658p.V173Vc.519G>CSubstitution - coding silent
KIAA1524ENSG00000163507ENST00000295746p.N264Sc.791A>GSubstitution - Missense
RGS11ENSG00000076344ENST00000397770p.R305Wc.913C>TSubstitution - Missense
ITFG3ENSG00000167930ENST00000301678p.I512Ic.1536C>TSubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.?c.5153+6C>AUnknown
CDK10ENSG00000185324ENST00000353379p.R345Gc.1033C>GSubstitution - Missense
CDH15ENSG00000129910ENST00000289746p.E656Kc.1966G>ASubstitution - Missense
TMEM35ENSG00000126950ENST00000372930p.R65Qc.194G>ASubstitution - Missense
MORC4ENSG00000133131ENST00000355610p.P186Lc.557C>TSubstitution - Missense
NM_024657.2p.P9Lc.26C>TSubstitution - Missense
MYOCDENSG00000141052ENST00000425538p.P580Lc.1739C>TSubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.P580Lc.1739C>TSubstitution - Missense
TNFRSF13BENSG00000240505ENST00000261652p.P42Pc.126T>CSubstitution - coding silent
GALR2ENSG00000182687ENST00000329003p.M250Ic.750G>TSubstitution - Missense
NM_004259.4p.R660Wc.1978C>TSubstitution - Missense
SEPT9ENSG00000184640ENST00000427177p.T108Sc.323C>GSubstitution - Missense
SEPT9ENSG00000184640ENST00000329047p.T90Sc.269C>GSubstitution - Missense
XM_290732.4p.S381Fc.1142C>TSubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.N318Sc.953A>GSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.K607Kc.1821A>GSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.K507Kc.1521A>GSubstitution - coding silent
LGALS3BPENSG00000108679ENST00000262776p.L6Fc.16C>TSubstitution - Missense
ENST00000418100_v65p.T138Sc.412A>TSubstitution - Missense
JSRP1ENSG00000167476ENST00000300961p.R233Wc.697C>TSubstitution - Missense
ZNF57ENSG00000171970ENST00000306908p.S181Lc.542C>TSubstitution - Missense
PPAP2CENSG00000141934ENST00000327790p.M194Ic.582G>TSubstitution - Missense
CGB2ENSG00000104818ENST00000359342p.T16Ac.46A>GSubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.A427Ac.1281C>ASubstitution - coding silent
TDRD12ENSG00000173809ENST00000444215p.R141Qc.422G>ASubstitution - Missense
TBC1D17ENSG00000104946ENST00000221543p.E293Ec.879A>GSubstitution - coding silent
SHANK1ENSG00000161681ENST00000293441p.F242Fc.726C>TSubstitution - coding silent
ZNF473ENSG00000142528ENST00000391821p.L661_H664delLSKHc.1977_1988del12Deletion - In frame
C20orf144ENSG00000149609ENST00000375222p.A77Tc.229G>ASubstitution - Missense
RBL1ENSG00000080839ENST00000373664p.F593Fc.1779C>TSubstitution - coding silent
LSM14BENSG00000149657ENST00000279068p.Y312Yc.936T>CSubstitution - coding silent
POT1ENSG00000128513ENST00000357628p.?c.1506-3C>TUnknown
HYAL4ENSG00000106302ENST00000223026p.D173Nc.517G>ASubstitution - Missense
TAS2R16ENSG00000128519ENST00000249284p.E35Kc.103G>ASubstitution - Missense
BAG1ENSG00000107262ENST00000472232p.D265Yc.793G>TSubstitution - Missense
DNAJA1ENSG00000086061ENST00000330899p.?c.309_311-3del2894Unknown
DNAJA1ENSG00000086061ENST00000330899p.?c.414_417-4del450Unknown
DNAJA1ENSG00000086061ENST00000330899p.?c.973_976-4del1569Unknown
CDC37L1ENSG00000106993ENST00000381854p.E109*c.325G>TSubstitution - Nonsense
FAM189A2ENSG00000135063ENST00000257515p.I241Tc.722T>CSubstitution - Missense
FLNBENSG00000136068ENST00000490882p.T1198Mc.3593C>TSubstitution - Missense
FLNBENSG00000136068ENST00000295956p.T1198Mc.3593C>TSubstitution - Missense
KIAA1429ENSG00000164944ENST00000297591p.?c.179+9A>GUnknown
MTERFD1ENSG00000156469ENST00000287025p.S254Lc.761C>TSubstitution - Missense
SPECC1ENSG00000128487ENST00000395527p.E230Vc.689A>TSubstitution - Missense
KPNA2ENSG00000182481ENST00000330459p.R366Cc.1096C>TSubstitution - Missense
NOL11ENSG00000130935ENST00000253247p.V146Vc.438T>CSubstitution - coding silent
TLCD1ENSG00000160606ENST00000292090p.S51Sc.153C>TSubstitution - coding silent
TLCD1ENSG00000160606ENST00000292090p.S51Fc.152C>TSubstitution - Missense
SEBOX,VTNENSG00000109072ENST00000226218p.S130Sc.390T>ASubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.H386Rc.1157A>GSubstitution - Missense
SLC6A4ENSG00000108576ENST00000261707p.S293Fc.878C>TSubstitution - Missense
ENST00000411702p.?c.2357+7C>TUnknown
TBC1D16ENSG00000167291ENST00000310924p.S399Fc.1196C>TSubstitution - Missense
KCTD1ENSG00000134504ENST00000317932p.P119Pc.357C>TSubstitution - coding silent
C19orf38ENSG00000214212ENST00000397820p.F112Fc.336C>TSubstitution - coding silent
ZNF823ENSG00000197933ENST00000341191p.K333Nc.999A>TSubstitution - Missense
KRTAP10-4ENSG00000215454ENST00000400374p.C317Cc.951C>TSubstitution - coding silent
ENST00000380014p.A225Vc.674C>TSubstitution - Missense
ZNF2ENSG00000163067ENST00000340539p.P340Tc.1018C>ASubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.P8Tc.22C>ASubstitution - Missense
RAD18ENSG00000070950ENST00000264926p.K186Nc.558G>TSubstitution - Missense
PROS1ENSG00000184500ENST00000394236p.Q571*c.1711C>TSubstitution - Nonsense
POU1F1ENSG00000064835ENST00000344265p.R156Ic.467G>TSubstitution - Missense
POU1F1ENSG00000064835ENST00000350375p.R130Ic.389G>TSubstitution - Missense
LMCD1ENSG00000071282ENST00000157600p.H159delHc.475_477delCACDeletion - In frame
CADM2ENSG00000175161ENST00000383699p.A91Pc.271G>CSubstitution - Missense
FLGENSG00000143631ENST00000368799p.S395Fc.1184C>TSubstitution - Missense
NUP210LENSG00000143552ENST00000368559p.L1592Fc.4774C>TSubstitution - Missense
PKLRENSG00000143627ENST00000342741p.?c.1116+6G>AUnknown
TNNT2ENSG00000118194ENST00000367322p.K285Tc.854A>CSubstitution - Missense
PRCPENSG00000137509ENST00000393399p.E256Ac.767A>CSubstitution - Missense
PRCPENSG00000137509ENST00000313010p.E235Ac.704A>CSubstitution - Missense
ENST00000447890p.L628Vc.1882T>GSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.N2209Yc.6625A>TSubstitution - Missense
ENST00000298047_v61p.N2209Yc.6625A>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.K2514Nc.7542G>CSubstitution - Missense
ENST00000298047_v61p.K2514Nc.7542G>CSubstitution - Missense
ENST00000280576p.G173Ec.518G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.H1334Hc.4002C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.A1585Ac.4755C>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.A1541Ac.4623C>ASubstitution - coding silent
C1orf63ENSG00000117616ENST00000243189p.S54*c.161C>ASubstitution - Nonsense
OR14I1ENSG00000189181ENST00000342623p.L128Lc.384C>TSubstitution - coding silent
SYTL1ENSG00000142765ENST00000318074p.?c.341-2_341delagGUnknown
MYSM1ENSG00000162601ENST00000472487p.V8Lc.22G>CSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.P126Lc.377C>TSubstitution - Missense
LRRC7ENSG00000033122ENST00000370958p.P164Lc.491C>TSubstitution - Missense
REREENSG00000142599ENST00000400908p.F1495Fc.4485C>TSubstitution - coding silent
AP5M1ENSG00000053770ENST00000261558p.E355Kc.1063G>ASubstitution - Missense
ENST00000334389p.S37Rc.111C>ASubstitution - Missense
TRIP11ENSG00000100815ENST00000267622p.?c.1228-6T>GUnknown
RPS6KA5ENSG00000100784ENST00000261991p.K428Rc.1283A>GSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.D78Gc.233A>GSubstitution - Missense
DPP8ENSG00000074603ENST00000300141p.R732Cc.2194C>TSubstitution - Missense
SLC2A7ENSG00000197241ENST00000400906p.E468Kc.1402G>ASubstitution - Missense
GCLMENSG00000023909ENST00000370238p.A93Ac.279A>GSubstitution - coding silent
FAM155AENSG00000204442ENST00000375915p.D378Dc.1134C>TSubstitution - coding silent
ARHGEF7ENSG00000102606ENST00000375736p.K613Nc.1839A>TSubstitution - Missense
ANKRD10ENSG00000088448ENST00000267339p.L144Fc.430C>TSubstitution - Missense
ARHGEF7ENSG00000102606ENST00000317133p.L136Fc.406C>TSubstitution - Missense
COL4A2ENSG00000134871ENST00000360467p.I1393Ic.4179C>TSubstitution - coding silent
GRK1ENSG00000185974ENST00000335678p.P292Pc.876G>ASubstitution - coding silent
PARP4ENSG00000102699ENST00000381989p.F940Fc.2820C>TSubstitution - coding silent
C1QTNF9ENSG00000240654ENST00000382071p.E230Kc.688G>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.E886Kc.2656G>ASubstitution - Missense
XM_031689.7p.D2028Ec.6084T>ASubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.W520*c.1560G>ASubstitution - Nonsense
BCAR1ENSG00000050820ENST00000418647p.G172Ac.515G>CSubstitution - Missense
ENST00000398114p.T158Mc.473C>TSubstitution - Missense
TMEM231ENSG00000205084ENST00000258173p.T129Mc.386C>TSubstitution - Missense
FMNL1ENSG00000184922ENST00000331495p.P795Lc.2384C>TSubstitution - Missense
GSE1ENSG00000131149ENST00000253458p.?c.8-3C>TUnknown
LRRC46ENSG00000141294ENST00000269025p.S271Sc.813C>TSubstitution - coding silent
EFCAB13ENSG00000178852ENST00000331493p.V242Mc.724G>ASubstitution - Missense
ZNF177ENSG00000188629ENST00000434737p.G308Rc.922G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.Q4682Qc.14046G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.Q4682Qc.14046G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.P7969Pc.23907G>ASubstitution - coding silent
SPAG16ENSG00000144451ENST00000331683p.V465Ac.1394T>CSubstitution - Missense
NSMAFENSG00000035681ENST00000427130p.S700Lc.2099C>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.D1884Ac.5651A>CSubstitution - Missense
SOX17ENSG00000164736ENST00000297316p.T346Tc.1038G>ASubstitution - coding silent
CSPP1ENSG00000104218ENST00000262210p.D16Dc.48C>TSubstitution - coding silent
MZF1ENSG00000099326ENST00000215057p.R651Qc.1952G>ASubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.P371Sc.1111C>TSubstitution - Missense
ENST00000215591p.?c.823-4C>TUnknown
PTBP1ENSG00000011304ENST00000356948p.?c.1463+3G>AUnknown
RAB11BENSG00000185236ENST00000328024p.T59Ic.176C>TSubstitution - Missense
NUTM2FENSG00000130950ENST00000253262p.T136Tc.408C>TSubstitution - coding silent
NUTM2FENSG00000130950ENST00000341207p.T17Tc.51C>TSubstitution - coding silent
ST7LENSG00000007341ENST00000358039p.K296Tc.887A>CSubstitution - Missense
TAS1R2ENSG00000179002ENST00000375371p.R317Pc.950G>CSubstitution - Missense
BRINP3ENSG00000162670ENST00000367462p.G670Vc.2009G>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.K2231Rc.6692A>GSubstitution - Missense
EMC1ENSG00000127463ENST00000477853p.D231Gc.692A>GSubstitution - Missense
ENST00000455833_v68p.M355Vc.1063A>GSubstitution - Missense
KIAA0430ENSG00000166783ENST00000396368p.L1498Fc.4492C>TSubstitution - Missense
ENST00000309584p.S246Lc.737C>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.R1259Rc.3777A>CSubstitution - coding silent
MALRD1ENSG00000204740ENST00000454679p.T756fs*46c.2263delCDeletion - Frameshift
ENSG00000183748ENST00000331429p.G76Ec.227G>ASubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.W208Rc.622T>ASubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.W208Rc.622T>ASubstitution - Missense
ZMYND11ENSG00000015171ENST00000381584p.?c.1108-8C>TUnknown
VRTNENSG00000133980ENST00000256362p.I220Ic.660C>TSubstitution - coding silent
PNMA1ENSG00000176903ENST00000316836p.E315Dc.945A>TSubstitution - Missense
HEATR4ENSG00000187105ENST00000334988p.R726Kc.2177G>ASubstitution - Missense
VASH1ENSG00000071246ENST00000167106p.S269Ic.806G>TSubstitution - Missense
NM_004452.2p.S42Sc.126C>TSubstitution - coding silent
NM_014381.1p.R1355Hc.4064G>ASubstitution - Missense
MCTP2ENSG00000140563ENST00000357742p.L196Fc.586C>TSubstitution - Missense
SHISA9ENSG00000237515ENST00000558583p.G361Ec.1082G>ASubstitution - Missense
OGDHLENSG00000197444ENST00000374103p.Q404*c.1210C>TSubstitution - Nonsense
C10orf71ENSG00000177354ENST00000374144p.A377Ac.1131C>GSubstitution - coding silent
C10orf71ENSG00000177354ENST00000323868p.A377Ac.1131C>GSubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.L1025Rc.3074T>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.L1030Rc.3089T>GSubstitution - Missense
FAM208BENSG00000108021ENST00000328090p.L1191Lc.3573C>TSubstitution - coding silent
ENST00000398860p.A1820Tc.5458G>ASubstitution - Missense
OIT3ENSG00000138315ENST00000334011p.P333Lc.998C>TSubstitution - Missense
BATF2ENSG00000168062ENST00000301887p.E62Ec.186G>ASubstitution - coding silent
CATSPER1ENSG00000175294ENST00000312106p.M363Tc.1088T>CSubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.G972Sc.2914G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.E3414Qc.10240G>CSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.E2912Qc.8734G>CSubstitution - Missense
KIAA0754ENSG00000255103ENST00000530275p.S754Sc.2262C>TSubstitution - coding silent
FHL3ENSG00000183386ENST00000373016p.D91Yc.271G>TSubstitution - Missense
DIABLOENSG00000184047ENST00000443649p.R33Wc.97C>TSubstitution - Missense
SETD1BENSG00000139718ENST00000267197p.L282Lc.846C>TSubstitution - coding silent
CABP1ENSG00000157782ENST00000288616p.?c.46-1G>AUnknown
CSDE1ENSG00000009307ENST00000369530p.?c.1509+2_1510del596Unknown
CSDE1ENSG00000009307ENST00000358528p.?c.1464+2_1465del596Unknown
CSDE1ENSG00000009307ENST00000369530p.?c.2394+2_2395del396Unknown
CSDE1ENSG00000009307ENST00000358528p.?c.2349+2_2350del396Unknown
CSDE1ENSG00000009307ENST00000369530p.?c.2261+1_2262-1del833Unknown
CSDE1ENSG00000009307ENST00000369530p.?c.1918+2_1919del3165Unknown
ENST00000369546p.S180Fc.539C>TSubstitution - Missense
HAO2ENSG00000116882ENST00000325945p.I33Ic.99C>TSubstitution - coding silent
FAM231DENSG00000203815ENST00000369173p.S102Sc.306C>TSubstitution - coding silent
NOTCH2ENSG00000134250ENST00000256646p.P2Pc.6C>TSubstitution - coding silent
TCHHENSG00000159450ENST00000368804p.D32Dc.96C>TSubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.G1890Gc.5670C>GSubstitution - coding silent
POU2F1ENSG00000143190ENST00000367862p.S372Lc.1115C>TSubstitution - Missense
MAP1AENSG00000166963ENST00000300231p.A2637Vc.7910C>TSubstitution - Missense
ENST00000389961_v65p.V986Vc.2958G>TSubstitution - coding silent
HEATR5AENSG00000129493ENST00000389961p.V986Vc.2958G>TSubstitution - coding silent
NPAS3ENSG00000151322ENST00000346562p.N85Nc.255C>TSubstitution - coding silent
RPS29ENSG00000213741ENST00000245458p.G2Cc.4G>TSubstitution - Missense
CAPRIN2ENSG00000110888ENST00000251071p.G1027Ec.3080G>ASubstitution - Missense
CAPRIN2ENSG00000110888ENST00000251071p.G1027Rc.3079G>ASubstitution - Missense
SLC6A13ENSG00000010379ENST00000343164p.G226Rc.676G>ASubstitution - Missense
SLC6A13ENSG00000010379ENST00000343164p.K225Kc.675G>ASubstitution - coding silent
FGD4ENSG00000139132ENST00000427716p.T125Mc.374C>TSubstitution - Missense
SLC27A3ENSG00000143554ENST00000368661p.E307Ac.920A>CSubstitution - Missense
LRFN4ENSG00000173621ENST00000309602p.A480Vc.1439C>TSubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.P819Pc.2457C>GSubstitution - coding silent
A2ML1ENSG00000166535ENST00000299698p.Q1287*c.3859C>TSubstitution - Nonsense
NLRP14ENSG00000158077ENST00000299481p.C135fs*14c.399_400insTInsertion - Frameshift
SHANK2ENSG00000162105ENST00000294018p.P800Hc.2399C>ASubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.P1396Hc.4187C>ASubstitution - Missense
VEZTENSG00000028203ENST00000436874p.P15Lc.44C>TSubstitution - Missense
NR2C1ENSG00000120798ENST00000330677p.?c.286-3_310>27Unknown
VEZTENSG00000028203ENST00000436874p.P15Lc.44C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.I2388Ic.7164C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.R2581Gc.7741A>GSubstitution - Missense
NRAPENSG00000197893ENST00000359988p.A1390Vc.4169C>TSubstitution - Missense
PDZD8ENSG00000165650ENST00000334464p.F104Fc.312C>TSubstitution - coding silent
GFRA1ENSG00000151892ENST00000439649p.C277Yc.830G>ASubstitution - Missense
ABLIM1ENSG00000099204ENST00000369252p.P132Sc.394C>TSubstitution - Missense
NM_006561.2p.R6Cc.16C>TSubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000279907p.G116Sc.346G>ASubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000356828p.G116Sc.346G>ASubstitution - Missense
AP2A2ENSG00000183020ENST00000448903p.N639Nc.1917C>TSubstitution - coding silent
KDM4EENSG00000235268ENST00000450979p.C286Rc.856T>CSubstitution - Missense
KDM4EENSG00000235268ENST00000450979p.C286Rc.856T>CSubstitution - Missense
RAD52ENSG00000002016ENST00000358495p.?c.866-4G>AUnknown
MYBPC1ENSG00000196091ENST00000361466p.H542Qc.1626T>ASubstitution - Missense
MYBPC1ENSG00000196091ENST00000360610p.H517Qc.1551T>ASubstitution - Missense
ABCD2ENSG00000173208ENST00000308666p.?c.1792+8C>TUnknown
STAB2ENSG00000136011ENST00000388887p.Q1657Ec.4969C>GSubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.K1918Nc.5754G>TSubstitution - Missense
NM_016575.1p.F405Fc.1215C>TSubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.K463Kc.1389G>ASubstitution - coding silent
NM_006105.3p.L745Lc.2235C>TSubstitution - coding silent
FGF23ENSG00000118972ENST00000237837p.P151Lc.452C>TSubstitution - Missense
NELL2ENSG00000184613ENST00000437801p.R619Rc.1857T>GSubstitution - coding silent
NELL2ENSG00000184613ENST00000429094p.R569Rc.1707T>GSubstitution - coding silent
FLT1ENSG00000102755ENST00000539099p.K116Tc.347A>CSubstitution - Missense
MTIF3ENSG00000122033ENST00000381116p.Q36*c.106C>TSubstitution - Nonsense
C1orf112ENSG00000000460ENST00000286031p.Q616Qc.1848G>ASubstitution - coding silent
CSMD2ENSG00000121904ENST00000241312p.?c.4655-6T>CUnknown
CSMD2ENSG00000121904ENST00000373381p.?c.4775-6T>CUnknown
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.A776Sc.2326G>TSubstitution - Missense
APCSENSG00000132703ENST00000255040p.G122Sc.364G>ASubstitution - Missense
ADAMTS4ENSG00000158859ENST00000367996p.A490Vc.1469C>TSubstitution - Missense
CASQ1ENSG00000143318ENST00000368078p.?c.279+3G>AUnknown
SPENENSG00000065526ENST00000375759p.K1114Rc.3341A>GSubstitution - Missense
NM_032738.3p.L82Fc.244C>TSubstitution - Missense
RGS4ENSG00000117152ENST00000367909p.K99Rc.296A>GSubstitution - Missense
PADI4ENSG00000159339ENST00000375448p.L612Lc.1836G>ASubstitution - coding silent
TNRENSG00000116147ENST00000367674p.S200Tc.598T>ASubstitution - Missense
TOR1AIP2ENSG00000169905ENST00000367612p.A46Ac.138C>TSubstitution - coding silent
ENST00000355015p.P74Pc.222G>ASubstitution - coding silent
NXPE4ENSG00000137634ENST00000375478p.G436Gc.1308C>TSubstitution - coding silent
NXPE4ENSG00000137634ENST00000375478p.G436Dc.1307G>ASubstitution - Missense
PVRL1ENSG00000110400ENST00000340882p.I340Ic.1020C>TSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.M1639Ic.4917G>CSubstitution - Missense
KIAA1377ENSG00000110318ENST00000263468p.P802Sc.2404C>TSubstitution - Missense
CTR9ENSG00000198730ENST00000361367p.G908Ec.2723G>ASubstitution - Missense
DLATENSG00000150768ENST00000280346p.?c.506+1_507-1del152Unknown
C11orf53ENSG00000150750ENST00000280325p.S47Fc.140C>TSubstitution - Missense
KCNQ1ENSG00000053918ENST00000155840p.?c.1128+5G>AUnknown
C11orf21ENSG00000110665ENST00000456145p.T120fs*4c.355_356insCInsertion - Frameshift
DCDC1ENSG00000170959ENST00000452803p.R344Gc.1030A>GSubstitution - Missense
AMY2BENSG00000240038ENST00000361355p.E93Kc.277G>ASubstitution - Missense
NM_004284.2p.S283Sc.849A>CSubstitution - coding silent
ATAD3AENSG00000197785ENST00000378755p.D445Dc.1335C>TSubstitution - coding silent
TAS2R31ENSG00000256436ENST00000390675p.W88Cc.264G>CSubstitution - Missense
FBXL3ENSG00000005812ENST00000355619p.D74Dc.222C>TSubstitution - coding silent
OLFM3ENSG00000118733ENST00000338858p.L32Lc.96G>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.Q1793Kc.5377C>ASubstitution - Missense
ZNF485ENSG00000198298ENST00000361807p.S103Fc.308C>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.S866fs*13c.2594_2595delTTDeletion - Frameshift
DNAH14ENSG00000185842ENST00000445597p.S800fs*13c.2396_2397delTTDeletion - Frameshift
PLCE1ENSG00000138193ENST00000371375p.T59Mc.176C>TSubstitution - Missense
RRP12ENSG00000052749ENST00000370992p.S429Lc.1286C>TSubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.P1155Pc.3465A>GSubstitution - coding silent
OR4D5ENSG00000171014ENST00000307033p.P261Lc.782C>TSubstitution - Missense
TBCELENSG00000154114ENST00000529397p.V336Vc.1008G>ASubstitution - coding silent
ETS1ENSG00000134954ENST00000392668p.S242Sc.726C>TSubstitution - coding silent
PHF21AENSG00000135365ENST00000418153p.H17Hc.51C>TSubstitution - coding silent
PHF21AENSG00000135365ENST00000323180p.H17Hc.51C>TSubstitution - coding silent
TRIM68ENSG00000167333ENST00000300747p.P450Lc.1349C>TSubstitution - Missense
ACCSENSG00000110455ENST00000263776p.T334Rc.1001C>GSubstitution - Missense
MYBPC3ENSG00000134571ENST00000399249p.R835Rc.2505C>TSubstitution - coding silent
MYBPC3ENSG00000134571ENST00000399249p.?c.906-8C>TUnknown
ENST00000368148p.G1845Rc.5533G>ASubstitution - Missense
CD1EENSG00000158488ENST00000368167p.G113Sc.337G>ASubstitution - Missense
FCRL2ENSG00000132704ENST00000469986p.S41*c.122C>ASubstitution - Nonsense
PRIM1ENSG00000198056ENST00000338193p.?c.1243+8G>AUnknown
NACAENSG00000196531ENST00000454682p.P1255Pc.3765A>GSubstitution - coding silent
OR10J5ENSG00000184155ENST00000334857p.S266Lc.797C>TSubstitution - Missense
VWFENSG00000110799ENST00000261405p.P744Lc.2231C>TSubstitution - Missense
TAPBPLENSG00000139192ENST00000266556p.I365Vc.1093A>GSubstitution - Missense
NECAP1ENSG00000089818ENST00000339754p.P23Pc.69G>ASubstitution - coding silent
ENST00000458043_v65p.I1639Tc.4916T>CSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.T68Tc.204C>TSubstitution - coding silent
ZNF436ENSG00000125945ENST00000374608p.I57Ic.171C>TSubstitution - coding silent
POLEENSG00000177084ENST00000320574p.L78Fc.234A>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.V267Ec.800T>ASubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.G39Sc.115G>ASubstitution - Missense
SLC15A5ENSG00000188991ENST00000344941p.?c.976-8G>AUnknown
ERP27ENSG00000139055ENST00000266397p.E174Kc.520G>ASubstitution - Missense
LDHBENSG00000111716ENST00000396076p.E14*c.40G>TSubstitution - Nonsense
AQP2ENSG00000167580ENST00000199280p.S63Sc.189C>TSubstitution - coding silent
AP3B2ENSG00000103723ENST00000261722p.D726_E727delDEc.2178_2183delTGAGGADeletion - In frame
ENST00000268134p.?c.1605-9C>TUnknown
ACANENSG00000157766ENST00000439576p.?c.1605-9C>TUnknown
P4HA3ENSG00000149380ENST00000331597p.?c.343+6G>AUnknown
C2CD3ENSG00000168014ENST00000334126p.P1221Lc.3662C>TSubstitution - Missense
UCP2ENSG00000175567ENST00000310473p.S282Pc.844T>CSubstitution - Missense
RELTENSG00000054967ENST00000064780p.R70Lc.209G>TSubstitution - Missense
OLFML1ENSG00000183801ENST00000329293p.S320Sc.960A>GSubstitution - coding silent
OLFML1ENSG00000183801ENST00000329293p.R106Qc.317G>ASubstitution - Missense
ENST00000368915p.Q1096Hc.3288G>TSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.Q1096Hc.3288G>TSubstitution - Missense
C10orf90ENSG00000154493ENST00000284694p.R586Cc.1756C>TSubstitution - Missense
MGMTENSG00000170430ENST00000306010p.R237Qc.710G>ASubstitution - Missense
NM_002412.1p.R206Qc.617G>ASubstitution - Missense
VENTXENSG00000151650ENST00000325980p.T34Sc.101C>GSubstitution - Missense
ENST00000368577p.D444Dc.1332C>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.E3194Qc.9580G>CSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.P1171Pc.3513A>CSubstitution - coding silent
LRRC16BENSG00000186648ENST00000342740p.A384Vc.1151C>TSubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.L1077Lc.3231C>ASubstitution - coding silent
PRKD1ENSG00000184304ENST00000331968p.N403Sc.1208A>GSubstitution - Missense
NFATC4ENSG00000100968ENST00000413692p.P316Sc.946C>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000250373p.P253Sc.757C>TSubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.Q248Qc.744G>ASubstitution - coding silent
TMEM132AENSG00000006118ENST00000005286p.Q248Qc.744G>ASubstitution - coding silent
OR2AG2ENSG00000188124ENST00000338569p.Y252Cc.755A>GSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.A240Ac.720G>ASubstitution - coding silent
NEUROD6ENSG00000164600ENST00000297142p.F161Fc.483C>TSubstitution - coding silent
PDCLENSG00000136940ENST00000259467p.E28Kc.82G>ASubstitution - Missense
ANXA9ENSG00000143412ENST00000368947p.R81Qc.242G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370576p.R724Qc.2171G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000519895p.R800Qc.2399G>ASubstitution - Missense
KCNH2ENSG00000055118ENST00000262186p.D712Nc.2134G>ASubstitution - Missense
GPR52ENSG00000203737ENST00000367685p.F89Fc.267C>TSubstitution - coding silent
WRAP73ENSG00000116213ENST00000270708p.D325Hc.973G>CSubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.R937Cc.2809C>TSubstitution - Missense
WIPF1ENSG00000115935ENST00000392546p.G132Rc.394G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H193Rc.578A>GSubstitution - Missense
ENST00000545858p.H100Rc.299A>GSubstitution - Missense
SPATA16ENSG00000144962ENST00000351008p.R522Hc.1565G>ASubstitution - Missense
L1CAMENSG00000198910ENST00000370060p.T435Tc.1305G>ASubstitution - coding silent
LRRC73ENSG00000204052ENST00000372441p.L136Lc.408C>TSubstitution - coding silent
VEGFCENSG00000150630ENST00000280193p.L215Lc.645G>TSubstitution - coding silent
GH2ENSG00000136487ENST00000456543p.P31Pc.93C>TSubstitution - coding silent
TSHZ3ENSG00000121297ENST00000240587p.E66Kc.196G>ASubstitution - Missense
SENP6ENSG00000112701ENST00000447266p.D703Dc.2109C>TSubstitution - coding silent
BMP6ENSG00000153162ENST00000283147p.G265Ec.794G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370573p.R724Qc.2171G>ASubstitution - Missense
SENP6ENSG00000112701ENST00000447266p.D703Dc.2109C>TSubstitution - coding silent
SMARCA4ENSG00000127616ENST00000358026p.D1235Yc.3703G>TSubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.D1235Yc.3703G>TSubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.I866Ic.2598C>TSubstitution - coding silent
ACIN1ENSG00000100813ENST00000338631p.I139Ic.417C>TSubstitution - coding silent
ENST00000262719_v68p.S1504Sc.4512C>TSubstitution - coding silent
PHLPP1ENSG00000081913ENST00000400316p.S991Sc.2973C>TSubstitution - coding silent
WDR16ENSG00000166596ENST00000352665p.G521Rc.1561G>ASubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.D556Dc.1668C>TSubstitution - coding silent
UNC5DENSG00000156687ENST00000404895p.I236Ic.708C>TSubstitution - coding silent
PDE11AENSG00000128655ENST00000358450p.E106*c.316G>TSubstitution - Nonsense
RAPGEF3ENSG00000079337ENST00000449771p.E239Kc.715G>ASubstitution - Missense
NM_006105.3p.E197Kc.589G>ASubstitution - Missense
CD163L1ENSG00000177675ENST00000313599p.G240Ec.719G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.H193Rc.578A>GSubstitution - Missense
NM_013266.1p.?c.1885-1G>AUnknown
CTNNA3ENSG00000183230ENST00000433211p.?c.1885-1G>AUnknown
IKBKEENSG00000143466ENST00000367120p.R500Qc.1499G>ASubstitution - Missense
LAMB3ENSG00000196878ENST00000367030p.Q989Qc.2967G>ASubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.N3812Sc.11435A>GSubstitution - Missense
VASH2ENSG00000143494ENST00000366968p.C135Gc.403T>GSubstitution - Missense
KRT79ENSG00000185640ENST00000330553p.A100_G101delAGc.297_302delGGCTGGDeletion - In frame
KRT76ENSG00000185069ENST00000332411p.E212Kc.634G>ASubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.I908Ic.2724C>TSubstitution - coding silent
OR6C70ENSG00000184954ENST00000327335p.R120Cc.358C>TSubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.?c.3045-7T>CUnknown
BAZ2AENSG00000076108ENST00000551812p.?c.3045-7T>CUnknown
PAN2ENSG00000135473ENST00000440411p.?c.1263-3T>GUnknown
CCDC33ENSG00000140481ENST00000398814p.L502Rc.1505T>GSubstitution - Missense
CD276ENSG00000103855ENST00000318443p.I207Ic.621C>TSubstitution - coding silent
NAA16ENSG00000172766ENST00000379406p.S436Fc.1307C>TSubstitution - Missense
LINGO1ENSG00000169783ENST00000355300p.V571Vc.1713C>TSubstitution - coding silent
SPERTENSG00000174015ENST00000310521p.A110Ac.330C>TSubstitution - coding silent
CCDC70ENSG00000123171ENST00000242819p.M110Ic.330G>ASubstitution - Missense
POLR3BENSG00000013503ENST00000228347p.A489Tc.1465G>ASubstitution - Missense
HVCN1ENSG00000122986ENST00000356742p.E6Kc.16G>ASubstitution - Missense
GPN3ENSG00000111231ENST00000543199p.S88Sc.264C>TSubstitution - coding silent
KCTD10ENSG00000110906ENST00000228495p.I302Ic.906C>TSubstitution - coding silent
ERP29ENSG00000089248ENST00000261735p.?c.143_145-3del6146Unknown
ERP29ENSG00000089248ENST00000261735p.?c.281_284-4del2255Unknown
TAS2R31ENSG00000256436ENST00000390675p.G92Cc.274G>TSubstitution - Missense


COSMIC

1 mutations reported
1 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
CDKN2AENSG00000147889ENST00000304494p.?c.1_457del457Unknown9033652