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SK-MEL-28 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

925 mutations reported
397 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
SH3RF3ENSG00000172985ENST00000309415p.?c.1299+8C>TUnknown
ABCA8ENSG00000141338ENST00000269080p.K753Nc.2259A>CSubstitution - Missense
KIAA1257ENSG00000114656ENST00000265068p.L369Lc.1107G>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000379533p.P253Ac.757C>GSubstitution - Missense
TRDNENSG00000186439ENST00000398178p.E714Qc.2140G>CSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
SLC4A2ENSG00000164889ENST00000485713p.S369Sc.1107C>TSubstitution - coding silent
PLXNB3ENSG00000198753ENST00000361971p.D372Nc.1114G>ASubstitution - Missense
ASB10ENSG00000146926ENST00000377867p.R419Rc.1257C>TSubstitution - coding silent
PTGES2ENSG00000148334ENST00000338961p.S114Sc.342C>TSubstitution - coding silent
COL27A1ENSG00000196739ENST00000356083p.?c.2070+10C>TUnknown
EGFRENSG00000146648ENST00000275493p.P753Sc.2257C>TSubstitution - Missense
CTNNA2ENSG00000066032ENST00000361291p.F762Fc.2286C>TSubstitution - coding silent
MPPED2ENSG00000066382ENST00000448418p.R229Sc.687A>TSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.P693Lc.2078C>TSubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.P693Lc.2078C>TSubstitution - Missense
TRIM59ENSG00000213186ENST00000309784p.W47*c.141G>ASubstitution - Nonsense
SU_OBSCN.1p.L5398Lc.16192C>TSubstitution - coding silent
ABCC9ENSG00000069431ENST00000261201p.I580Ic.1740C>TSubstitution - coding silent
NELL1ENSG00000165973ENST00000357134p.L768Lc.2304G>ASubstitution - coding silent
PRB2ENSG00000121335ENST00000389362p.P156Sc.466C>TSubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.R377Rc.1131G>ASubstitution - coding silent
ENST00000234668p.E283Kc.847G>ASubstitution - Missense
EIF3FENSG00000175390ENST00000537635p.S10Sc.30C>TSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000396105p.H542Hc.1626T>CSubstitution - coding silent
LILRA4ENSG00000239961ENST00000291759p.L75Lc.225G>ASubstitution - coding silent
SEPT9ENSG00000184640ENST00000427180p.V13Ic.37G>ASubstitution - Missense
UBASH3AENSG00000160185ENST00000319294p.I410Ic.1230C>TSubstitution - coding silent
ILF3ENSG00000129351ENST00000318511p.P763Lc.2288C>TSubstitution - Missense
CDH17ENSG00000079112ENST00000027335p.P624Lc.1871C>TSubstitution - Missense
LILRA3ENSG00000170866ENST00000251390p.A392Vc.1175C>TSubstitution - Missense
GAGE2BENSG00000231850ENST00000381725p.S32Ic.95G>TSubstitution - Missense
ZNF518BENSG00000178163ENST00000326756p.S881Ac.2641T>GSubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.S837Lc.2510C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.P310Lc.929C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
DCSTAMPENSG00000164935ENST00000297581p.P432Pc.1296G>ASubstitution - coding silent
ASB10ENSG00000146926ENST00000422024p.R479Rc.1437C>TSubstitution - coding silent
DMKNENSG00000161249ENST00000419602p.?c.1207-2A>CUnknown
SELLENSG00000188404ENST00000236147p.?c.620-9C>TUnknown
SYNE1ENSG00000131018ENST00000341594p.?c.14997-2G>AUnknown
MYT1LENSG00000186487ENST00000428368p.G1009Gc.3027A>TSubstitution - coding silent
ADAMDEC1ENSG00000134028ENST00000256412p.R317*c.949C>TSubstitution - Nonsense
RIC3ENSG00000166405ENST00000343202p.K210Ic.629A>TSubstitution - Missense
ARHGAP31ENSG00000031081ENST00000264245p.S487Fc.1460C>TSubstitution - Missense
NM_152586.2p.P714Lc.2141C>TSubstitution - Missense
NM_014903.3p.T240fs*29c.716_719delCAACDeletion - Frameshift
TRPC4ENSG00000133107ENST00000379705p.R322Rc.966G>ASubstitution - coding silent
EIF3FENSG00000175390ENST00000537635p.S10Fc.29C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P6773Qc.20318C>ASubstitution - Missense
GGT7ENSG00000131067ENST00000336431p.A445Ac.1335C>TSubstitution - coding silent
KDM4BENSG00000127663ENST00000159111p.Y993Yc.2979C>TSubstitution - coding silent
QSOX2ENSG00000165661ENST00000358701p.K295Rc.884A>GSubstitution - Missense
SLIT2ENSG00000145147ENST00000504154p.I312Ic.936C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
TMEM40ENSG00000088726ENST00000431022p.E145Kc.433G>ASubstitution - Missense
API5ENSG00000166181ENST00000534600p.Q47*c.139C>TSubstitution - Nonsense
ENST00000303890p.R542Hc.1625G>ASubstitution - Missense
GTF2E1ENSG00000153767ENST00000283875p.R60*c.178C>TSubstitution - Nonsense
NM_020856.1p.S665Sc.1995C>TSubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.P2152Sc.6454C>TSubstitution - Missense
ENST00000414315p.L13Rc.38T>GSubstitution - Missense
SIRT4ENSG00000089163ENST00000202967p.G135Vc.404G>TSubstitution - Missense
CDK4ENSG00000135446ENST00000257904p.R24Cc.70C>TSubstitution - Missense
ENST00000338282p.E1196Kc.3586G>ASubstitution - Missense
NCKAP1LENSG00000123338ENST00000293373p.R214Qc.641G>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.E894Ec.2682G>ASubstitution - coding silent
IRG1ENSG00000102794ENST00000377462p.H210Yc.628C>TSubstitution - Missense
PDZRN4ENSG00000165966ENST00000402685p.S387Ic.1160G>TSubstitution - Missense
CCDC27ENSG00000162592ENST00000294600p.S62Sc.186G>ASubstitution - coding silent
SH3PXD2AENSG00000107957ENST00000355946p.P802Lc.2405C>TSubstitution - Missense
OR4K5ENSG00000176281ENST00000315915p.C29Wc.87T>GSubstitution - Missense
KCNC2ENSG00000166006ENST00000549446p.E573Kc.1717G>ASubstitution - Missense
CPA2ENSG00000158516ENST00000222481p.G345Vc.1034G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.L145Lc.435G>TSubstitution - coding silent
ENST00000356127p.G4811Rc.14431G>ASubstitution - Missense
ENST00000318252p.G2364Rc.7090G>ASubstitution - Missense
DNAH12ENSG00000174844ENST00000311202p.A196Pc.586G>CSubstitution - Missense
CDH18ENSG00000145526ENST00000382275p.P269Sc.805C>TSubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.C321Cc.963C>TSubstitution - coding silent
NUP210ENSG00000132182ENST00000254508p.L621Pc.1862T>CSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.L289Lc.865C>TSubstitution - coding silent
KCNG3ENSG00000171126ENST00000306078p.F407Fc.1221T>CSubstitution - coding silent
SNRKENSG00000163788ENST00000454177p.G271Ec.812G>ASubstitution - Missense
SKILENSG00000136603ENST00000259119p.D35Gc.104A>GSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.L3030Lc.9090G>ASubstitution - coding silent
ZNF224ENSG00000267680ENST00000336976p.T221Ic.662C>TSubstitution - Missense
FBLN1ENSG00000077942ENST00000348697p.F617Fc.1851C>TSubstitution - coding silent
C16orf78ENSG00000166152ENST00000299191p.D235Nc.703G>ASubstitution - Missense
FKBP9ENSG00000122642ENST00000538336p.Q217Qc.651G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.P612Lc.1835C>TSubstitution - Missense
MYO1GENSG00000136286ENST00000258787p.R324Hc.971G>ASubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.A1446Vc.4337C>TSubstitution - Missense
PDZRN4ENSG00000165966ENST00000539469p.S129Ic.386G>TSubstitution - Missense
SCUBE2ENSG00000175356ENST00000309263p.E254Dc.762G>TSubstitution - Missense
CCP110ENSG00000103540ENST00000396212p.Q83Qc.249G>ASubstitution - coding silent
ENST00000414268p.V330Ec.989T>ASubstitution - Missense
HIF1AENSG00000100644ENST00000337138p.A694Tc.2080G>ASubstitution - Missense
AGBL4ENSG00000186094ENST00000371838p.Y260Yc.780C>TSubstitution - coding silent
ZBP1ENSG00000124256ENST00000371173p.G356Ec.1067G>ASubstitution - Missense
BCL2L12ENSG00000126453ENST00000246785p.R67Tc.200G>CSubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.S1394Sc.4182C>TSubstitution - coding silent
GPR1ENSG00000183671ENST00000407325p.C349Rc.1045T>CSubstitution - Missense
OPRK1ENSG00000082556ENST00000265572p.S136Sc.408C>TSubstitution - coding silent
ENST00000248272p.T167fs*5c.498_500CAC>TAComplex - frameshift
GPR97ENSG00000182885ENST00000327655p.D308Nc.922G>ASubstitution - Missense
NM_002711.2p.E528Kc.1582G>ASubstitution - Missense
USP54ENSG00000166348ENST00000408019p.P1631Lc.4892C>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.L145Rc.434T>GSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.V4949Vc.14847G>ASubstitution - coding silent
ST6GAL2ENSG00000144057ENST00000361686p.Y472*c.1416C>GSubstitution - Nonsense
CDAN1ENSG00000140326ENST00000356231p.?c.2008-8C>TUnknown
KARSENSG00000065427ENST00000302445p.?c.482+8G>AUnknown
LPCAT4ENSG00000176454ENST00000314891p.P505Sc.1513C>TSubstitution - Missense
OR4N4ENSG00000183706ENST00000328795p.S74Sc.222C>TSubstitution - coding silent
UNC13BENSG00000198722ENST00000378495p.H1432Hc.4296C>TSubstitution - coding silent
LBPENSG00000129988ENST00000217407p.L263Ic.787C>ASubstitution - Missense
ZNF724PENSG00000196081ENST00000418100p.H584Yc.1750C>TSubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.G625Gc.1875G>ASubstitution - coding silent
NM_004260.1p.R1038Hc.3113G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.T861Tc.2583G>ASubstitution - coding silent
ATP5J2ENSG00000241468ENST00000292475p.K14Kc.42G>ASubstitution - coding silent
TRANK1ENSG00000168016ENST00000301807p.L249Lc.747G>ASubstitution - coding silent
EML6ENSG00000214595ENST00000356458p.V81Vc.243C>TSubstitution - coding silent
MCFD2ENSG00000180398ENST00000319466p.?c.310-1G>AUnknown
CC2D2AENSG00000048342ENST00000389652p.R886*c.2656C>TSubstitution - Nonsense
SNCAIPENSG00000064692ENST00000261368p.P206Ac.616C>GSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.?c.7942-3C>TUnknown
PCDHA1ENSG00000204970ENST00000504120p.P802Pc.2406C>ASubstitution - coding silent
PCDHA5ENSG00000204965ENST00000529859p.F462Fc.1386C>TSubstitution - coding silent
ADAMTS13ENSG00000160323ENST00000371911p.P281Lc.842C>TSubstitution - Missense
PSG8ENSG00000124467ENST00000404209p.N248Ic.743A>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.E2594Kc.7780G>ASubstitution - Missense
DPP6ENSG00000130226ENST00000332007p.G33Ec.98G>ASubstitution - Missense
SYCNENSG00000179751ENST00000318438p.C38fs*82c.114delCDeletion - Frameshift
SHANK2ENSG00000162105ENST00000423696p.V1244Vc.3732T>GSubstitution - coding silent
CPNE9ENSG00000144550ENST00000383831p.?c.1344+9G>CUnknown
PTENENSG00000171862ENST00000371953p.T167Ac.499A>GSubstitution - Missense
JPH1ENSG00000104369ENST00000342232p.S299Fc.896C>TSubstitution - Missense
KCNH5ENSG00000140015ENST00000322893p.P498Sc.1492C>TSubstitution - Missense
IL1RL2ENSG00000115598ENST00000264257p.P545Sc.1633C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.E5255Kc.15763G>ASubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.T240fs*29c.716_719delCAACDeletion - Frameshift
ZSWIM8ENSG00000214655ENST00000398706p.P811Sc.2431C>TSubstitution - Missense
ENST00000412131p.P811Sc.2431C>TSubstitution - Missense
DPP4ENSG00000197635ENST00000360534p.P362Sc.1084C>TSubstitution - Missense
OR56A3ENSG00000184478ENST00000329564p.G314Ec.941G>ASubstitution - Missense
FBXO18ENSG00000134452ENST00000379999p.E620Kc.1858G>ASubstitution - Missense
MLXIPENSG00000175727ENST00000319080p.L368Lc.1102C>TSubstitution - coding silent
C1orf167ENSG00000215910ENST00000433342p.?c.2060+5G>AUnknown
AGBL4ENSG00000186094ENST00000371839p.Y260Yc.780C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.P2035Pc.6105C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.L145Lc.435G>TSubstitution - coding silent
MOSENSG00000172680ENST00000311923p.S194Lc.581C>TSubstitution - Missense
NM_003319p.Q4133*c.12397C>TSubstitution - Nonsense
CHTF18ENSG00000127586ENST00000262315p.V922Ic.2764G>ASubstitution - Missense
PGM5ENSG00000154330ENST00000396396p.M353Ic.1059G>ASubstitution - Missense
BCAS1ENSG00000064787ENST00000411563p.I151Vc.451A>GSubstitution - Missense
ENST00000237536_v68p.A982Ac.2946C>TSubstitution - coding silent
KCNB2ENSG00000182674ENST00000523207p.M148Ic.444G>ASubstitution - Missense
ENST00000404449p.L508Lc.1524C>TSubstitution - coding silent
DSTENSG00000151914ENST00000244364p.E4060Gc.12179A>GSubstitution - Missense
DSELENSG00000171451ENST00000310045p.F743Fc.2229C>TSubstitution - coding silent
NM_138737.1p.P156Sc.466C>TSubstitution - Missense
PCDHGB7ENSG00000254122ENST00000398594p.P391Sc.1171C>TSubstitution - Missense
ZNF483ENSG00000173258ENST00000309235p.R458Rc.1374G>ASubstitution - coding silent
NPY1RENSG00000164128ENST00000296533p.S363Yc.1088C>ASubstitution - Missense
CLTCL1ENSG00000070371ENST00000427926p.P253Sc.757C>TSubstitution - Missense
TMTC1ENSG00000133687ENST00000381224p.Q81*c.241C>TSubstitution - Nonsense
UNC79ENSG00000133958ENST00000256339p.P435Lc.1304C>TSubstitution - Missense
IQSEC1ENSG00000144711ENST00000429247p.D242Nc.724G>ASubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.V1624Vc.4872T>GSubstitution - coding silent
HECTD4ENSG00000173064ENST00000377560p.S2903Sc.8709G>TSubstitution - coding silent
MEGF6ENSG00000162591ENST00000356575p.L124Fc.370C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.E5326Kc.15976G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.E5326Kc.15976G>ASubstitution - Missense
SLCO1B3ENSG00000111700ENST00000381545p.L413Fc.1237C>TSubstitution - Missense
ACANENSG00000157766ENST00000439576p.S1316Nc.3947G>ASubstitution - Missense
C1orf27ENSG00000157181ENST00000287859p.L342Fc.1024C>TSubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.V809Fc.2425G>TSubstitution - Missense
CCNYL1ENSG00000163249ENST00000339882p.I174Ic.522C>TSubstitution - coding silent
CHTF18ENSG00000127586ENST00000317063p.V1131Ic.3391G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P6773Qc.20318C>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.G3126Gc.9378T>CSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.R2073Cc.6217C>TSubstitution - Missense
LILRB3ENSG00000204577ENST00000391750p.Q378Rc.1133A>GSubstitution - Missense
AFTPHENSG00000119844ENST00000238856p.A574Ac.1722T>GSubstitution - coding silent
EPN1ENSG00000063245ENST00000270460p.R135Rc.405C>TSubstitution - coding silent
FREM1ENSG00000164946ENST00000422223p.?c.2894-4C>TUnknown
CC2D2AENSG00000048342ENST00000424120p.R935*c.2803C>TSubstitution - Nonsense
TPOENSG00000115705ENST00000345913p.L4Lc.12C>TSubstitution - coding silent
SCN3AENSG00000153253ENST00000409101p.G1092Ec.3275G>ASubstitution - Missense
MYRFLENSG00000166268ENST00000299350p.Q222Qc.666G>ASubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.A955Ac.2865C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.L145Lc.435G>TSubstitution - coding silent
KAL1ENSG00000011201ENST00000262648p.S396Lc.1187C>TSubstitution - Missense
OR4D2ENSG00000255713ENST00000545221p.G41Ec.122G>ASubstitution - Missense
AOC1ENSG00000002726ENST00000360937p.F341Fc.1023C>TSubstitution - coding silent
REPS1ENSG00000135597ENST00000258062p.H296Yc.886C>TSubstitution - Missense
CANXENSG00000127022ENST00000247461p.R359Kc.1076G>ASubstitution - Missense
MRPL4ENSG00000105364ENST00000307422p.P84Sc.250C>TSubstitution - Missense
CHKAENSG00000110721ENST00000265689p.Q451*c.1351C>TSubstitution - Nonsense
LLGL2ENSG00000073350ENST00000392550p.E893Kc.2677G>ASubstitution - Missense
NLGN4XENSG00000146938ENST00000381095p.Q328*c.982C>TSubstitution - Nonsense
PROS1ENSG00000184500ENST00000394236p.A348Vc.1043C>TSubstitution - Missense
OTOGLENSG00000165899ENST00000458043p.L17Fc.49C>TSubstitution - Missense
API5ENSG00000166181ENST00000531273p.Q47*c.139C>TSubstitution - Nonsense
ENST00000349637p.T3688Tc.11064G>ASubstitution - coding silent
CD63ENSG00000135404ENST00000257857p.V56Ac.167T>CSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.R2161*c.6481C>TSubstitution - Nonsense
PHRF1ENSG00000070047ENST00000416188p.T1020Mc.3059C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.R2134Rc.6402G>ASubstitution - coding silent
ENST00000414315p.L13Lc.39G>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.G4811Rc.14431G>ASubstitution - Missense
SYDE2ENSG00000097096ENST00000341460p.E361Kc.1081G>ASubstitution - Missense
ANP32AENSG00000140350ENST00000465139p.D188Dc.564C>TSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000371752p.H542Hc.1626T>CSubstitution - coding silent
MED25ENSG00000104973ENST00000312865p.L278Vc.832C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.E26666Kc.79996G>ASubstitution - Missense
NM_003319p.E26474Kc.79420G>ASubstitution - Missense
GREB1LENSG00000141449ENST00000424526p.L507Lc.1521C>TSubstitution - coding silent
VIPENSG00000146469ENST00000367244p.P49Rc.146C>GSubstitution - Missense
SEC24DENSG00000150961ENST00000280551p.R432Kc.1295G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.R872Rc.2616G>ASubstitution - coding silent
ENST00000289484p.H171Qc.513C>ASubstitution - Missense
RABL6ENSG00000196642ENST00000311502p.?c.1992+7C>GUnknown
SEC24AENSG00000113615ENST00000398844p.P116Pc.348A>CSubstitution - coding silent
FOXRED2ENSG00000100350ENST00000397223p.P670Sc.2008C>TSubstitution - Missense
ENST00000258062_v70p.H348Yc.1042C>TSubstitution - Missense
RNF220ENSG00000187147ENST00000335497p.T19Sc.56C>GSubstitution - Missense
NFYCENSG00000066136ENST00000447388p.T34Ac.100A>GSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.G128Gc.384C>TSubstitution - coding silent
OR52B6ENSG00000187747ENST00000345043p.S113Fc.338C>TSubstitution - Missense
PZPENSG00000126838ENST00000261336p.R155Gc.463C>GSubstitution - Missense
NCKIPSDENSG00000213672ENST00000341520p.?c.487-4C>TUnknown
HNF4AENSG00000101076ENST00000316673p.G429Ec.1286G>ASubstitution - Missense
DPP6ENSG00000130226ENST00000404039p.G31Ec.92G>ASubstitution - Missense
PCDHA9ENSG00000204961ENST00000532602p.P802Pc.2406C>ASubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.R2134Rc.6402G>ASubstitution - coding silent
BNIP1ENSG00000113734ENST00000231668p.?c.307-8C>TUnknown
ABCA8ENSG00000141338ENST00000430352p.K793Nc.2379A>CSubstitution - Missense
ENST00000412510p.F25Fc.75C>TSubstitution - coding silent
CYP2U1ENSG00000155016ENST00000332884p.R390*c.1168C>TSubstitution - Nonsense
NEK9ENSG00000119638ENST00000238616p.R142Hc.425G>ASubstitution - Missense
ZC2HC1CENSG00000119703ENST00000524913p.G26Ec.77G>ASubstitution - Missense
NBEAENSG00000172915ENST00000310336p.L2303Fc.6907C>TSubstitution - Missense
FYBENSG00000082074ENST00000512982p.G651Ec.1952G>ASubstitution - Missense
LBPENSG00000129988ENST00000217407p.I251Ic.753C>ASubstitution - coding silent
ZNF831ENSG00000124203ENST00000371030p.S472Fc.1415C>TSubstitution - Missense
ENST00000545858p.L52Lc.156G>TSubstitution - coding silent
CLEC4MENSG00000104938ENST00000327325p.?c.937-4C>TUnknown
DSC2ENSG00000134755ENST00000280904p.K421Nc.1263G>TSubstitution - Missense
CECR6ENSG00000183307ENST00000331437p.S552Sc.1656C>TSubstitution - coding silent
TGOLN2ENSG00000152291ENST00000377386p.L389Lc.1165C>TSubstitution - coding silent
USP34ENSG00000115464ENST00000398571p.S2292Nc.6875G>ASubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.F799Fc.2397C>TSubstitution - coding silent
SLC7A11ENSG00000151012ENST00000280612p.A395Ac.1185C>ASubstitution - coding silent
SLC6A6ENSG00000131389ENST00000360861p.V525Ic.1573G>ASubstitution - Missense
DMKNENSG00000161249ENST00000339686p.?c.1240-2A>CUnknown
DPP6ENSG00000130226ENST00000406326p.G95Ec.284G>ASubstitution - Missense
SCN3AENSG00000153253ENST00000283254p.G1141Ec.3422G>ASubstitution - Missense
AXLENSG00000167601ENST00000359092p.L50Fc.148C>TSubstitution - Missense
EPS15ENSG00000085832ENST00000396122p.A354Ac.1062C>TSubstitution - coding silent
MYRFLENSG00000166268ENST00000299350p.A250Tc.748G>ASubstitution - Missense
ENST00000372796p.R566Hc.1697G>ASubstitution - Missense
TPOENSG00000115705ENST00000337415p.L4Lc.12C>TSubstitution - coding silent
PAK7ENSG00000101349ENST00000378429p.P158Lc.473C>TSubstitution - Missense
KCNH5ENSG00000140015ENST00000394968p.P440Sc.1318C>TSubstitution - Missense
SIGLECL1ENSG00000179213ENST00000316401p.M41fs*27c.120_121insGInsertion - Frameshift
CSMD3ENSG00000164796ENST00000297405p.S2119Cc.6355A>TSubstitution - Missense
SORCS3ENSG00000156395ENST00000369701p.Y688Dc.2062T>GSubstitution - Missense
RERGLENSG00000111404ENST00000229002p.R49Rc.147G>ASubstitution - coding silent
PEX19ENSG00000162735ENST00000368072p.P50Lc.149C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.R2636Qc.7907G>ASubstitution - Missense
MYOCDENSG00000141052ENST00000343344p.A285Ac.855C>TSubstitution - coding silent
TRAPPC10ENSG00000160218ENST00000291574p.T733Tc.2199C>TSubstitution - coding silent
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ATP2B2ENSG00000157087ENST00000383800p.R938Rc.2814G>ASubstitution - coding silent
ZPLD1ENSG00000170044ENST00000306176p.L390Lc.1170G>ASubstitution - coding silent
ENST00000356127p.P18384Lc.55151C>TSubstitution - Missense
NEDD4LENSG00000049759ENST00000382850p.F249Fc.747C>TSubstitution - coding silent
TRANK1ENSG00000168016ENST00000428977p.L249Lc.747G>ASubstitution - coding silent
ZNF749ENSG00000186230ENST00000334181p.F620Fc.1860C>TSubstitution - coding silent
ENST00000380830p.F533Fc.1599C>TSubstitution - coding silent
DMP1ENSG00000152592ENST00000339673p.P123Pc.369C>ASubstitution - coding silent
SCG2ENSG00000171951ENST00000305409p.R334Kc.1001G>ASubstitution - Missense
FSHRENSG00000170820ENST00000406846p.I550Ic.1650C>TSubstitution - coding silent
UNC45BENSG00000141161ENST00000394570p.L753Lc.2259C>TSubstitution - coding silent
GTF3C5ENSG00000148308ENST00000372095p.G329Ec.986G>ASubstitution - Missense
TMIGD2ENSG00000167664ENST00000301272p.V256Vc.768C>TSubstitution - coding silent
CHD6ENSG00000124177ENST00000373233p.L2451Lc.7353G>TSubstitution - coding silent
NR4A2ENSG00000153234ENST00000539077p.S137Lc.410C>TSubstitution - Missense
RNF220ENSG00000187147ENST00000443020p.T64Sc.191C>GSubstitution - Missense
ADAM7ENSG00000069206ENST00000175238p.M359Ic.1077G>ASubstitution - Missense
SH2D3CENSG00000095370ENST00000373276p.?c.1885-5C>TUnknown
KCNQ5ENSG00000185760ENST00000402622p.S734Lc.2201C>TSubstitution - Missense
DNM2ENSG00000079805ENST00000314646p.R107Kc.320G>ASubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.S848Sc.2544C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.R2134Qc.6401G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.P1322Pc.3966C>GSubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.G2635Rc.7903G>ASubstitution - Missense
ENST00000418100_v65p.H584Yc.1750C>TSubstitution - Missense
ENST00000312881p.L278Vc.832C>GSubstitution - Missense
BMP2ENSG00000125845ENST00000378827p.L374Hc.1121T>ASubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.L489Fc.1465C>TSubstitution - Missense
SYMPKENSG00000125755ENST00000245934p.S314Sc.942C>TSubstitution - coding silent
DHX57ENSG00000163214ENST00000295373p.?c.225-6C>TUnknown
PCDHA2ENSG00000204969ENST00000526136p.P800Pc.2400C>ASubstitution - coding silent
PSG1ENSG00000231924ENST00000244296p.S119Fc.356C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.L801Lc.2403C>TSubstitution - coding silent
ZEB2ENSG00000169554ENST00000303660p.S982Fc.2945C>TSubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.S482Fc.1445C>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.E1101Kc.3301G>ASubstitution - Missense
RAP1GAPENSG00000076864ENST00000374765p.V318Vc.954C>TSubstitution - coding silent
ARHGEF38ENSG00000236699ENST00000265154p.E59*c.175G>TSubstitution - Nonsense
C2CD3ENSG00000168014ENST00000334126p.L380Lc.1140C>TSubstitution - coding silent
TRPM5ENSG00000070985ENST00000155858p.F874Vc.2620T>GSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.R2636Rc.7908G>ASubstitution - coding silent
MYOCDENSG00000141052ENST00000425538p.V857Fc.2569G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.Q4258*c.12772C>TSubstitution - Nonsense
CD93ENSG00000125810ENST00000246006p.R504Gc.1510A>GSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.D455Yc.1363G>TSubstitution - Missense
FMN1ENSG00000248905ENST00000320930p.V330Ec.989T>ASubstitution - Missense
INTS8ENSG00000164941ENST00000523731p.E598Ec.1794G>ASubstitution - coding silent
AP2A1ENSG00000196961ENST00000359032p.?c.706-5G>AUnknown
TMPRSS15ENSG00000154646ENST00000284885p.Q54Qc.162G>ASubstitution - coding silent
SLC25A52ENSG00000141437ENST00000579441p.R74Gc.220A>GSubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.Q378Rc.1133A>GSubstitution - Missense
TXLNBENSG00000164440ENST00000358430p.P574Lc.1721C>TSubstitution - Missense
CTNNA2ENSG00000066032ENST00000466387p.F728Fc.2184C>TSubstitution - coding silent
PIK3CBENSG00000051382ENST00000477593p.C100fs*1c.297_298delCTDeletion - Frameshift
NM_053025p.V709Mc.2125G>ASubstitution - Missense
HHATLENSG00000010282ENST00000310417p.?c.1249-10G>AUnknown
APBB3ENSG00000113108ENST00000354402p.E113Kc.337G>ASubstitution - Missense
IGFLR1ENSG00000126246ENST00000246532p.G105Gc.315G>ASubstitution - coding silent
C9orf153ENSG00000187753ENST00000376001p.S96Fc.287C>TSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.N542Nc.1626T>CSubstitution - coding silent
HNF4AENSG00000101076ENST00000316099p.G451Ec.1352G>ASubstitution - Missense
SELLENSG00000188404ENST00000236147p.?c.620-10C>TUnknown
ENST00000334956_v70p.L234Lc.702C>TSubstitution - coding silent
EMR1ENSG00000174837ENST00000312053p.?c.1620+1G>TUnknown
MTM1ENSG00000171100ENST00000370396p.S229Lc.686C>TSubstitution - Missense
ATP8B2ENSG00000143515ENST00000368487p.L152Fc.454C>TSubstitution - Missense
GPC6ENSG00000183098ENST00000377047p.E82Kc.244G>ASubstitution - Missense
HS3ST2ENSG00000122254ENST00000261374p.P351Lc.1052C>TSubstitution - Missense
BCANENSG00000132692ENST00000329117p.P822Pc.2466C>TSubstitution - coding silent
TRPM2ENSG00000142185ENST00000397928p.T1442Mc.4325C>TSubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.A1217Tc.3649G>ASubstitution - Missense
API5ENSG00000166181ENST00000378852p.Q47*c.139C>TSubstitution - Nonsense
CARSENSG00000110619ENST00000397111p.R13Rc.39T>GSubstitution - coding silent
DUOX2ENSG00000140279ENST00000389039p.?c.4525-7C>TUnknown
MYOCDENSG00000141052ENST00000425538p.A285Ac.855C>TSubstitution - coding silent
DSC2ENSG00000134755ENST00000251081p.K421Nc.1263G>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000279034p.A744Ac.2232C>TSubstitution - coding silent
ENST00000356127p.E32969Kc.98905G>ASubstitution - Missense
ENST00000375170p.P103Sc.307C>TSubstitution - Missense
ENST00000405167p.T1854Ac.5560A>GSubstitution - Missense
POTEDENSG00000166351ENST00000299443p.M1Ic.3G>ASubstitution - Missense
FBLN1ENSG00000077942ENST00000327858p.F617Fc.1851C>TSubstitution - coding silent
CNPPD1ENSG00000115649ENST00000360507p.A238Ac.714A>GSubstitution - coding silent
PAX3ENSG00000135903ENST00000258387p.?c.322-5T>AUnknown
ZNF236ENSG00000130856ENST00000253159p.?c.4408+7G>AUnknown
GMPR2ENSG00000100938ENST00000420554p.D277Nc.829G>ASubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.E691Ec.2073G>ASubstitution - coding silent
TCHHENSG00000159450ENST00000368804p.L507_E640del134c.1518_1919del402Deletion - In frame
VANGL2ENSG00000162738ENST00000368061p.?c.192+1G>TUnknown
GLT8D2ENSG00000120820ENST00000360814p.E105fs*4c.313_314delGADeletion - Frameshift
ENST00000393689p.L541Lc.1623C>TSubstitution - coding silent
CA8ENSG00000178538ENST00000317995p.G193Gc.579G>ASubstitution - coding silent
CLIC4ENSG00000169504ENST00000374379p.?c.416-10C>TUnknown
FYBENSG00000082074ENST00000505428p.G651Ec.1952G>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.P554Sc.1660C>TSubstitution - Missense
LBPENSG00000129988ENST00000217407p.S258Cc.773C>GSubstitution - Missense
CSE1LENSG00000124207ENST00000262982p.K782Rc.2345A>GSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.T1568Nc.4703C>ASubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.A788Ac.2364C>TSubstitution - coding silent
CARFENSG00000138380ENST00000320443p.S4Cc.11C>GSubstitution - Missense
ASGR1ENSG00000141505ENST00000380920p.P133Sc.397C>TSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.?c.3126-5T>GUnknown
C2orf42ENSG00000115998ENST00000264434p.?c.1354-5T>AUnknown
PKDREJENSG00000130943ENST00000253255p.F686Fc.2058C>TSubstitution - coding silent
CEACAM21ENSG00000007129ENST00000401445p.?c.65-10C>TUnknown
GPR112ENSG00000156920ENST00000394143p.E680Kc.2038G>ASubstitution - Missense
ASB10ENSG00000146926ENST00000420175p.R434Rc.1302C>TSubstitution - coding silent
RFTN1ENSG00000131378ENST00000334133p.P272Rc.815C>GSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.?c.2089-5C>TUnknown
ENST00000395988p.A189Ac.567C>TSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.P2434Pc.7302T>CSubstitution - coding silent
DMKNENSG00000161249ENST00000429837p.?c.1117-2A>CUnknown
DMKNENSG00000161249ENST00000414866p.?c.379-2A>CUnknown
PPP1R3AENSG00000154415ENST00000284601p.E528Kc.1582G>ASubstitution - Missense
ENST00000307015p.G521Gc.1563T>CSubstitution - coding silent
GZMAENSG00000145649ENST00000274306p.G32Ec.95G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.L5528Lc.16582C>TSubstitution - coding silent
DIS3ENSG00000083520ENST00000377767p.L668*c.2003T>ASubstitution - Nonsense
ACTR1AENSG00000138107ENST00000369905p.G161Gc.483G>ASubstitution - coding silent
SEMA4GENSG00000095539ENST00000210633p.T128Tc.384C>TSubstitution - coding silent
A2MENSG00000175899ENST00000318602p.V1345Mc.4033G>ASubstitution - Missense
ENST00000268134p.S1316Nc.3947G>ASubstitution - Missense
TPSD1ENSG00000095917ENST00000211076p.S69Sc.207C>TSubstitution - coding silent
MROH2BENSG00000171495ENST00000399564p.G1299Ec.3896G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.L145Lc.435G>TSubstitution - coding silent
AMTENSG00000145020ENST00000273588p.R34Hc.101G>ASubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.P841Pc.2523C>TSubstitution - coding silent
UNC13AENSG00000130477ENST00000428389p.I721Ic.2163C>TSubstitution - coding silent
GYPEENSG00000197465ENST00000358615p.?c.38-5T>CUnknown
PCDHA8ENSG00000204962ENST00000531613p.P802Pc.2406C>ASubstitution - coding silent
PCDHB4ENSG00000081818ENST00000194152p.P152Lc.455C>TSubstitution - Missense
GAMTENSG00000130005ENST00000252288p.I132Ic.396C>ASubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.S461Sc.1383C>TSubstitution - coding silent
ZSCAN21ENSG00000166529ENST00000292450p.G273Ec.818G>ASubstitution - Missense
OR5D16ENSG00000205029ENST00000378396p.F64Fc.192C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.R2134Qc.6401G>ASubstitution - Missense
AOC1ENSG00000002726ENST00000416793p.F341Fc.1023C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000303395p.A966Ac.2898C>TSubstitution - coding silent
CANXENSG00000127022ENST00000415618p.R394Kc.1181G>ASubstitution - Missense
THNSL2ENSG00000144115ENST00000343544p.Y110Yc.330T>CSubstitution - coding silent
VITENSG00000205221ENST00000379242p.D55Nc.163G>ASubstitution - Missense
XM_372262.3p.S80Fc.239C>TSubstitution - Missense
ENST00000544512p.E927Kc.2779G>ASubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.E1203Kc.3607G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.L145Rc.434T>GSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.L4816Lc.14446C>TSubstitution - coding silent
ENST00000349637p.A3689Tc.11065G>ASubstitution - Missense
OR4M1ENSG00000176299ENST00000315957p.S75Sc.225C>ASubstitution - coding silent
BTG4ENSG00000137707ENST00000356018p.G106Sc.316G>ASubstitution - Missense
CCDC122ENSG00000151773ENST00000281508p.D19Nc.55G>ASubstitution - Missense
AMPD2ENSG00000116337ENST00000393688p.L422Lc.1266C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.G603Rc.1807G>ASubstitution - Missense
RAP1GAPENSG00000076864ENST00000542643p.V318Vc.954C>TSubstitution - coding silent
ABCA4ENSG00000198691ENST00000535735p.P91Sc.271C>TSubstitution - Missense
NFYCENSG00000066136ENST00000425457p.T34Ac.100A>GSubstitution - Missense
NFYCENSG00000066136ENST00000308733p.T34Ac.100A>GSubstitution - Missense
XM_496125.1p.R1299Cc.3895C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.L145Rc.434T>GSubstitution - Missense
UNC13AENSG00000130477ENST00000252773p.I633Ic.1899C>TSubstitution - coding silent
CLEC4MENSG00000104938ENST00000394122p.?c.901-4C>TUnknown
LILRB3ENSG00000204577ENST00000346401p.Q378Rc.1133A>GSubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.D563Yc.1687G>TSubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.S1394Sc.4182C>TSubstitution - coding silent
PSG1ENSG00000231924ENST00000436291p.S119Fc.356C>TSubstitution - Missense
ZBP1ENSG00000124256ENST00000343535p.G356Ec.1067G>ASubstitution - Missense
TPOENSG00000115705ENST00000539820p.L4Lc.12C>TSubstitution - coding silent
FBLN1ENSG00000077942ENST00000348697p.R431Qc.1292G>ASubstitution - Missense
IL5RAENSG00000091181ENST00000383846p.L171Fc.511C>TSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.A402Vc.1205C>TSubstitution - Missense
PCDHA5ENSG00000204965ENST00000529619p.P788Pc.2364C>ASubstitution - coding silent
TAAR8ENSG00000146385ENST00000275200p.N172Sc.515A>GSubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.N542Nc.1626T>CSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.T2376Mc.7127C>TSubstitution - Missense
PTCD1ENSG00000106246ENST00000555673p.D9Nc.25G>ASubstitution - Missense
PTCD1ENSG00000106246ENST00000555673p.K8Kc.24G>ASubstitution - coding silent
UNC13BENSG00000198722ENST00000396787p.H1463Hc.4389C>TSubstitution - coding silent
RABL6ENSG00000196642ENST00000435930p.?c.1140+7C>GUnknown
HEPHENSG00000089472ENST00000519389p.P210Sc.628C>TSubstitution - Missense
PLXNB3ENSG00000198753ENST00000538282p.D25Nc.73G>ASubstitution - Missense
KLHL13ENSG00000003096ENST00000539496p.F221Fc.663C>TSubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.P1456Lc.4367C>TSubstitution - Missense
ITGADENSG00000156886ENST00000389202p.P616Pc.1848G>TSubstitution - coding silent
GPR160ENSG00000173890ENST00000355897p.S186Lc.557C>TSubstitution - Missense
TMEM40ENSG00000088726ENST00000314124p.E129Kc.385G>ASubstitution - Missense
ANO2ENSG00000047617ENST00000546188p.E949Ec.2847G>ASubstitution - coding silent
IL1RL2ENSG00000115598ENST00000441515p.P427Sc.1279C>TSubstitution - Missense
FAM45AENSG00000119979ENST00000361432p.T131Tc.393A>CSubstitution - coding silent
SHANK2ENSG00000162105ENST00000338508p.R227Cc.679C>TSubstitution - Missense
CLPBENSG00000162129ENST00000294053p.N260Nc.780C>TSubstitution - coding silent
TMTC1ENSG00000133687ENST00000256062p.F96Fc.288C>TSubstitution - coding silent
NM_182530.1p.Q222Qc.666G>ASubstitution - coding silent
KIR3DL3ENSG00000242019ENST00000291860p.F14delFc.37_39delTTCDeletion - In frame
TTNENSG00000155657ENST00000342175p.Q4325*c.12973C>TSubstitution - Nonsense
ALOX15BENSG00000179593ENST00000380183p.?c.849+7G>AUnknown
MTDHENSG00000147649ENST00000336273p.?c.1679-9C>TUnknown
SAMHD1ENSG00000101347ENST00000262878p.?c.696+1G>AUnknown
TTNENSG00000155657ENST00000342175p.P12081Lc.36242C>TSubstitution - Missense
IMMTENSG00000132305ENST00000410111p.E440Kc.1318G>ASubstitution - Missense
NCKIPSDENSG00000213672ENST00000294129p.?c.487-4C>TUnknown
ENTPD8ENSG00000188833ENST00000371506p.Y350Sc.1049A>CSubstitution - Missense
RABL6ENSG00000196642ENST00000371663p.?c.1761+7C>GUnknown
USH2AENSG00000042781ENST00000366943p.V4949Vc.14847G>ASubstitution - coding silent
NBEAENSG00000172915ENST00000400445p.L2303Fc.6907C>TSubstitution - Missense
FOLH1ENSG00000086205ENST00000256999p.K213Rc.638A>GSubstitution - Missense
TK2ENSG00000166548ENST00000564917p.A73Vc.218C>TSubstitution - Missense
MRPL4ENSG00000105364ENST00000590669p.P84Sc.250C>TSubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.?c.7584+10C>AUnknown
PSG1ENSG00000231924ENST00000595356p.S119Fc.356C>TSubstitution - Missense
IQSEC1ENSG00000144711ENST00000273221p.D256Nc.766G>ASubstitution - Missense
CHEK2ENSG00000183765ENST00000328354p.E394Kc.1180G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.S2079Cc.6235A>TSubstitution - Missense
IL27RAENSG00000104998ENST00000263379p.R446*c.1336C>TSubstitution - Nonsense
ANO2ENSG00000047617ENST00000327087p.E948Ec.2844G>ASubstitution - coding silent
PCDHA10ENSG00000250120ENST00000307360p.P800Pc.2400C>ASubstitution - coding silent
PCDHA4ENSG00000204967ENST00000530339p.P799Pc.2397C>ASubstitution - coding silent
PCDHA12ENSG00000251664ENST00000398631p.P793Pc.2379C>ASubstitution - coding silent
PCDHA7ENSG00000204963ENST00000525929p.P789Pc.2367C>ASubstitution - coding silent
PCDHA5ENSG00000204965ENST00000529859p.P788Pc.2364C>ASubstitution - coding silent
PCDHA10ENSG00000250120ENST00000506939p.P537Pc.1611C>ASubstitution - coding silent
PCDHA6ENSG00000081842ENST00000378126p.F462Fc.1386C>TSubstitution - coding silent
HIST1H1BENSG00000184357ENST00000331442p.K112Kc.336G>ASubstitution - coding silent
MYO10ENSG00000145555ENST00000274203p.A402Vc.1205C>TSubstitution - Missense
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
ASB10ENSG00000146926ENST00000275838p.R396Rc.1188C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000358544p.?c.8017-3C>TUnknown
SF3B3ENSG00000189091ENST00000302516p.?c.2134-8C>TUnknown
WWP2ENSG00000198373ENST00000359154p.P537Sc.1609C>TSubstitution - Missense
NFAT5ENSG00000102908ENST00000432919p.Q790*c.2368C>TSubstitution - Nonsense
NFAT5ENSG00000102908ENST00000393742p.Q696*c.2086C>TSubstitution - Nonsense
PHLPP2ENSG00000040199ENST00000356272p.T1321Ic.3962C>TSubstitution - Missense
ENST00000316490_v65p.L2584Lc.7752A>GSubstitution - coding silent
ENST00000316490p.L2536Lc.7608A>GSubstitution - coding silent
ENST00000309900p.L215Lc.645A>GSubstitution - coding silent
IL27RAENSG00000104998ENST00000263379p.P229Lc.686C>TSubstitution - Missense
GAMTENSG00000130005ENST00000447102p.I132Ic.396C>ASubstitution - coding silent
PSG2ENSG00000242221ENST00000406487p.P8Sc.22C>TSubstitution - Missense
PSG1ENSG00000231924ENST00000312439p.S119Fc.356C>TSubstitution - Missense
PSG8ENSG00000124467ENST00000306511p.N248Ic.743A>TSubstitution - Missense
RIMS4ENSG00000101098ENST00000372851p.P115Lc.344C>TSubstitution - Missense
HNF4AENSG00000101076ENST00000316099p.G451Rc.1351G>ASubstitution - Missense
HNF4AENSG00000101076ENST00000316673p.G429Rc.1285G>ASubstitution - Missense
PLCG1ENSG00000124181ENST00000244007p.?c.3557-7C>TUnknown
IGSF23ENSG00000216588ENST00000402988p.P52Qc.155C>ASubstitution - Missense
ENSG00000167674ENST00000301284p.I84Ic.252C>TSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.E2594Kc.7780G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.E2594Kc.7780G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.M3447Ic.10341G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.M3447Ic.10341G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.M3204Ic.9612G>ASubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.I149Ic.447C>TSubstitution - coding silent
PIGGENSG00000174227ENST00000310340p.A856Gc.2567C>GSubstitution - Missense
NR4A2ENSG00000153234ENST00000339562p.S126Lc.377C>TSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
DPP6ENSG00000130226ENST00000377770p.G95Ec.284G>ASubstitution - Missense
FAM49AENSG00000197872ENST00000381323p.E246Kc.736G>ASubstitution - Missense
SCN3AENSG00000153253ENST00000283254p.R357*c.1069C>TSubstitution - Nonsense
SCN3AENSG00000153253ENST00000409101p.R357*c.1069C>TSubstitution - Nonsense
SH2D3CENSG00000095370ENST00000314830p.?c.2089-5C>TUnknown
DAB2IPENSG00000136848ENST00000259371p.G934Gc.2802C>TSubstitution - coding silent
DAB2IPENSG00000136848ENST00000309989p.G838Gc.2514C>TSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.S226Sc.678C>TSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.S226Sc.678C>TSubstitution - coding silent
ODF2ENSG00000136811ENST00000372814p.R610Hc.1829G>ASubstitution - Missense
DHX29ENSG00000067248ENST00000251636p.K220Kc.660G>ASubstitution - coding silent
C2ENSG00000166278ENST00000299367p.S527Sc.1581C>TSubstitution - coding silent
RIC3ENSG00000166405ENST00000396677p.K49Ic.146A>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.E1137Kc.3409G>ASubstitution - Missense
ENST00000266544_v70p.R270Qc.809G>ASubstitution - Missense
NFXL1ENSG00000170448ENST00000329043p.P519Lc.1556C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.E5255Kc.15763G>ASubstitution - Missense
NLGN4XENSG00000146938ENST00000381093p.Q348*c.1042C>TSubstitution - Nonsense
PCDHA5ENSG00000204965ENST00000529619p.F462Fc.1386C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000423058p.A966Ac.2898C>TSubstitution - coding silent
TMTC1ENSG00000133687ENST00000381224p.F96Fc.288C>TSubstitution - coding silent
CARSENSG00000110619ENST00000401769p.R26Rc.78T>GSubstitution - coding silent
PARVAENSG00000197702ENST00000538608p.L141Lc.423C>TSubstitution - coding silent
PDZRN4ENSG00000165966ENST00000298919p.S127Ic.380G>TSubstitution - Missense
NM_181334.1p.L98Lc.294G>ASubstitution - coding silent
ITPR1ENSG00000150995ENST00000302640p.R857Rc.2571G>ASubstitution - coding silent
ITPR1ENSG00000150995ENST00000456211p.R857Rc.2571G>ASubstitution - coding silent
SNRKENSG00000163788ENST00000454177p.G271Ec.812G>ASubstitution - Missense
SMARCC1ENSG00000173473ENST00000254480p.D370Vc.1109A>TSubstitution - Missense
MTRRENSG00000124275ENST00000264668p.?c.1757+10T>AUnknown
BHMTENSG00000145692ENST00000274353p.P46Sc.136C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.T2233Mc.6698C>TSubstitution - Missense
ENTPD8ENSG00000188833ENST00000344119p.Y350Sc.1049A>CSubstitution - Missense
MAN1B1ENSG00000177239ENST00000371589p.P195Lc.584C>TSubstitution - Missense
AIMP2ENSG00000106305ENST00000223029p.L285Lc.855C>TSubstitution - coding silent
SMARCA2ENSG00000080503ENST00000349721p.?c.3126-5T>GUnknown
ENST00000380437p.G1048Gc.3144T>CSubstitution - coding silent
SATL1ENSG00000184788ENST00000395409p.G283Sc.847G>ASubstitution - Missense
MAGEE2ENSG00000186675ENST00000373359p.E451Kc.1351G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.I633Ic.1899C>TSubstitution - coding silent
SATL1ENSG00000184788ENST00000509231p.G470Sc.1408G>ASubstitution - Missense
DACT3ENSG00000197380ENST00000391916p.A559Ac.1677C>TSubstitution - coding silent
DACT3ENSG00000197380ENST00000391916p.A559Ac.1677C>TSubstitution - coding silent
DACT3ENSG00000197380ENST00000300875p.A334Ac.1002C>TSubstitution - coding silent
PPP1R15AENSG00000087074ENST00000200453p.D467Hc.1399G>CSubstitution - Missense
FUT1ENSG00000174951ENST00000310160p.A354Ac.1062A>TSubstitution - coding silent
CCDC9ENSG00000105321ENST00000221922p.?c.211-9C>TUnknown
ZNF827ENSG00000151612ENST00000379448p.S837Lc.2510C>TSubstitution - Missense
SETD7ENSG00000145391ENST00000274031p.T85Mc.254C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.P310Lc.929C>TSubstitution - Missense
NM_133638.1p.D1084Vc.3251A>TSubstitution - Missense
SNCAIPENSG00000064692ENST00000503116p.P253Ac.757C>GSubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.?c.3114+5G>CUnknown
PCDH11XENSG00000102290ENST00000504220p.?c.3114+5G>CUnknown
KCNJ4ENSG00000168135ENST00000303592p.A44Ac.132G>ASubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.F165fs*34c.495delCDeletion - Frameshift
RAVER1ENSG00000161847ENST00000293677p.F148fs*34c.444delCDeletion - Frameshift
ZNF236ENSG00000130856ENST00000543926p.?c.4408+7G>AUnknown
DSTENSG00000151914ENST00000370769p.E6474Gc.19421A>GSubstitution - Missense
OR13D1ENSG00000179055ENST00000318763p.L258Lc.772C>TSubstitution - coding silent
TAF2ENSG00000064313ENST00000378164p.L413Lc.1239A>GSubstitution - coding silent
TAF2ENSG00000064313ENST00000378164p.L413Lc.1239A>GSubstitution - coding silent
RNF183ENSG00000165188ENST00000297894p.G68Gc.204G>ASubstitution - coding silent
NM_139285.1p.I242Ic.726C>TSubstitution - coding silent
TJP3ENSG00000105289ENST00000262968p.G174Rc.520G>CSubstitution - Missense
IGFLR1ENSG00000126246ENST00000246532p.G105Ec.314G>ASubstitution - Missense
DMKNENSG00000161249ENST00000408915p.?c.82-2A>CUnknown
RFTN1ENSG00000131378ENST00000334133p.P272Sc.814C>TSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.V583Ic.1747G>ASubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.V622Ic.1864G>ASubstitution - Missense
CAPN12ENSG00000182472ENST00000328867p.L165Lc.493C>TSubstitution - coding silent
SEMA4DENSG00000187764ENST00000450295p.S453Sc.1359C>TSubstitution - coding silent
SPATA31E1ENSG00000177992ENST00000325643p.R1065Rc.3195G>ASubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.R693Kc.2078G>ASubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.R693Kc.2078G>ASubstitution - Missense
FKBP9ENSG00000122642ENST00000242209p.Q164Qc.492G>ASubstitution - coding silent
CEACAM21ENSG00000007129ENST00000401445p.?c.65-10C>TUnknown
AXLENSG00000167601ENST00000301178p.L50Fc.148C>TSubstitution - Missense
PAF1ENSG00000006712ENST00000221265p.?c.1184-8C>TUnknown
PAF1ENSG00000006712ENST00000221265p.?c.1184-9C>TUnknown
HTATSF1ENSG00000102241ENST00000535601p.D693Dc.2079C>TSubstitution - coding silent
PLXNB3ENSG00000198753ENST00000538966p.D395Nc.1183G>ASubstitution - Missense
PCDHAC2ENSG00000243232ENST00000289269p.P859Pc.2577C>ASubstitution - coding silent
PCDHAC1ENSG00000248383ENST00000253807p.P815Pc.2445C>ASubstitution - coding silent
PCDHA3ENSG00000255408ENST00000522353p.P802Pc.2406C>ASubstitution - coding silent
PCDHA6ENSG00000081842ENST00000529310p.P802Pc.2406C>ASubstitution - coding silent
PCDHA13ENSG00000239389ENST00000289272p.P802Pc.2406C>ASubstitution - coding silent
PCDHA11ENSG00000249158ENST00000398640p.P801Pc.2403C>ASubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.T861Tc.2583G>ASubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.T861Tc.2583G>ASubstitution - coding silent
ZNF394ENSG00000160908ENST00000337673p.A290Gc.869C>GSubstitution - Missense
NM_004260.1p.F390Fc.1170T>CSubstitution - coding silent
SLC14A2ENSG00000132874ENST00000255226p.F767Fc.2301C>TSubstitution - coding silent
NEDD4LENSG00000049759ENST00000400345p.F249Fc.747C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.E32971Kc.98911G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.E26599Kc.79795G>ASubstitution - Missense
HOXD1ENSG00000128645ENST00000331462p.P164Sc.490C>TSubstitution - Missense
HNRNPA3ENSG00000170144ENST00000392524p.R9Rc.27C>ASubstitution - coding silent
DGCR8ENSG00000128191ENST00000351989p.D375Dc.1125T>CSubstitution - coding silent
CLTCL1ENSG00000070371ENST00000263200p.P253Sc.757C>TSubstitution - Missense
ENSG00000088899ENST00000329152p.P17Lc.50C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P18386Lc.55157C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P12014Lc.36041C>TSubstitution - Missense
NM_003319p.P11889Lc.35666C>TSubstitution - Missense
HDAC4ENSG00000068024ENST00000541256p.P733Lc.2198C>TSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.M1630Ic.4890G>ASubstitution - Missense
TATDN2ENSG00000157014ENST00000287652p.?c.1834-10C>TUnknown
ATP2B2ENSG00000157087ENST00000360273p.R983Rc.2949G>ASubstitution - coding silent
ZNF816ENSG00000180257ENST00000357666p.P536fs*5c.1605_1606insAInsertion - Frameshift
LILRA3ENSG00000170866ENST00000251390p.R396Rc.1188G>ASubstitution - coding silent
PAK7ENSG00000101349ENST00000378429p.D88Nc.262G>ASubstitution - Missense
ZNF512BENSG00000196700ENST00000369888p.S371Sc.1113C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T1854Ac.5560A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2498Lc.7493C>TSubstitution - Missense
ENST00000405167p.P2498Lc.7493C>TSubstitution - Missense
OR5H6ENSG00000230301ENST00000383696p.I73Ic.219C>TSubstitution - coding silent
OR5H1ENSG00000231192ENST00000354565p.A30Ac.90A>GSubstitution - coding silent
CPNE9ENSG00000144550ENST00000383832p.?c.1344+9G>CUnknown
MAPK10ENSG00000109339ENST00000359221p.P357Pc.1071C>TSubstitution - coding silent
MAPK10ENSG00000109339ENST00000449047p.P212Pc.636C>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.F2808Fc.8424C>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.F2808Fc.8424C>TSubstitution - coding silent
DDIT4LENSG00000145358ENST00000273990p.K178Kc.534G>ASubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.L1070Lc.3210G>TSubstitution - coding silent
EPN1ENSG00000063245ENST00000411543p.R246Rc.738C>TSubstitution - coding silent
GRIPAP1ENSG00000068400ENST00000376441p.P181Sc.541C>TSubstitution - Missense
GRIPAP1ENSG00000068400ENST00000376423p.P128Sc.382C>TSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.?c.3977-7C>TUnknown
TRIM28ENSG00000130726ENST00000253024p.E462Ec.1386G>ASubstitution - coding silent
IL5RAENSG00000091181ENST00000446632p.L171Fc.511C>TSubstitution - Missense
SEPT10ENSG00000186522ENST00000397712p.G255Rc.763G>ASubstitution - Missense
SEPT10ENSG00000186522ENST00000397714p.G232Rc.694G>ASubstitution - Missense
SHANK3ENSG00000251322ENST00000262795p.?c.1944+8C>TUnknown
SCN10AENSG00000185313ENST00000449082p.L1612Lc.4836G>TSubstitution - coding silent
SLC22A14ENSG00000144671ENST00000273173p.P359Pc.1077C>ASubstitution - coding silent
TRANK1ENSG00000168016ENST00000429976p.L799Lc.2397G>ASubstitution - coding silent
TK2ENSG00000166548ENST00000299697p.A115Vc.344C>TSubstitution - Missense
CDH18ENSG00000145526ENST00000507958p.P269Sc.805C>TSubstitution - Missense
AGPAT4ENSG00000026652ENST00000320285p.E296Dc.888G>TSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.L289Lc.865C>TSubstitution - coding silent
PLXNA3ENSG00000130827ENST00000369682p.F1832Fc.5496C>TSubstitution - coding silent
WDR33ENSG00000136709ENST00000322313p.P841Lc.2522C>TSubstitution - Missense
PAX3ENSG00000135903ENST00000392069p.?c.322-5T>AUnknown
PAX3ENSG00000135903ENST00000409828p.?c.322-5T>AUnknown
AFTPHENSG00000119844ENST00000238855p.A574Ac.1722T>GSubstitution - coding silent
KBTBD12ENSG00000187715ENST00000405109p.L554Fc.1660C>TSubstitution - Missense
ADCY5ENSG00000173175ENST00000462833p.V771Ic.2311G>ASubstitution - Missense
ENSG00000073169ENST00000380903p.R610Rc.1830C>TSubstitution - coding silent
FBLN1ENSG00000077942ENST00000327858p.R431Qc.1292G>ASubstitution - Missense
FBLN1ENSG00000077942ENST00000262722p.R431Qc.1292G>ASubstitution - Missense
FBLN1ENSG00000077942ENST00000442170p.R431Qc.1292G>ASubstitution - Missense
ARHGAP8ENSG00000241484ENST00000389774p.L62Lc.186G>ASubstitution - coding silent
MROH2BENSG00000171495ENST00000399564p.G1299Gc.3897G>ASubstitution - coding silent
ENST00000331986p.P2406Qc.7217C>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.D455Yc.1363G>TSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.G1011Gc.3033A>TSubstitution - coding silent
APOBENSG00000084674ENST00000233242p.D2993Nc.8977G>ASubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.T800Sc.2398A>TSubstitution - Missense
CCNYL1ENSG00000163249ENST00000392209p.I155Ic.465C>TSubstitution - coding silent
KLHL13ENSG00000003096ENST00000262820p.F218Fc.654C>TSubstitution - coding silent
ARHGEF18ENSG00000104880ENST00000359920p.Q107Pc.320A>CSubstitution - Missense
ARHGEF18ENSG00000104880ENST00000359920p.Q107Hc.321G>TSubstitution - Missense
USP26ENSG00000134588ENST00000370832p.F26Fc.78C>TSubstitution - coding silent
ENST00000429478p.?c.904-5C>TUnknown
TP53ENSG00000141510ENST00000413465p.L145Lc.435G>TSubstitution - coding silent
TDRD12ENSG00000173809ENST00000444215p.G60Rc.178G>ASubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.R762Rc.2286G>ASubstitution - coding silent
ENST00000301415p.S1353Sc.4059C>TSubstitution - coding silent
MYH14ENSG00000105357ENST00000262269p.D563Yc.1687G>TSubstitution - Missense
ENST00000301415p.D555Yc.1663G>TSubstitution - Missense
ENST00000359032_v68p.?c.706-5G>AUnknown
RHPN2ENSG00000131941ENST00000254260p.?c.1226-9C>TUnknown
SOGA1ENSG00000149639ENST00000237536p.A982Ac.2946C>TSubstitution - coding silent
SOGA1ENSG00000149639ENST00000237536p.A982Ac.2946C>TSubstitution - coding silent
GGT7ENSG00000131067ENST00000336431p.A445Vc.1334C>TSubstitution - Missense
ASIPENSG00000101440ENST00000374954p.S51Fc.152C>TSubstitution - Missense
ZNF341ENSG00000131061ENST00000342427p.G750Sc.2248G>ASubstitution - Missense
ENST00000335056_v70p.R343Rc.1029G>ASubstitution - coding silent
PROKR2ENSG00000101292ENST00000217270p.V55Vc.165C>TSubstitution - coding silent
ATP9AENSG00000054793ENST00000338821p.I162Ic.486C>TSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000371754p.H542Hc.1626T>CSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000455070p.H346Hc.1038T>CSubstitution - coding silent
LBPENSG00000129988ENST00000217407p.L262Lc.786C>TSubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000344754p.K278Kc.834G>ASubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000202578p.K278Kc.834G>ASubstitution - coding silent
SAMHD1ENSG00000101347ENST00000262878p.T232Tc.696G>TSubstitution - coding silent
SYCP2ENSG00000196074ENST00000357552p.K849Ec.2545A>GSubstitution - Missense
DNAH12ENSG00000174844ENST00000351747p.A196Pc.586G>CSubstitution - Missense
ENST00000318252p.G2855Gc.8565T>CSubstitution - coding silent
FAM160B2ENSG00000158863ENST00000289921p.A73Tc.217G>ASubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.G384Sc.1150G>ASubstitution - Missense
ZNF596ENSG00000172748ENST00000308811p.E494Kc.1480G>ASubstitution - Missense
TLK2ENSG00000146872ENST00000326270p.D738Nc.2212G>ASubstitution - Missense
TLK2ENSG00000146872ENST00000346027p.D716Nc.2146G>ASubstitution - Missense
TLK2ENSG00000146872ENST00000346027p.D716Nc.2146G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.?c.11143-8C>TUnknown
RAP1GAP2ENSG00000132359ENST00000254695p.I114Ic.342C>TSubstitution - coding silent
RAP1GAP2ENSG00000132359ENST00000254695p.I114Ic.342C>TSubstitution - coding silent
ENST00000317571_v68p.S146Lc.437C>TSubstitution - Missense
TTC39CENSG00000168234ENST00000304621p.S85Lc.254C>TSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.F1686Fc.5058C>TSubstitution - coding silent
ENST00000269205_v65p.R84Gc.250A>GSubstitution - Missense
BEST2ENSG00000039987ENST00000042931p.F14Fc.42C>TSubstitution - coding silent
PRDM15ENSG00000141956ENST00000269844p.H1042Hc.3126C>TSubstitution - coding silent
THNSL2ENSG00000144115ENST00000324166p.Y110Yc.330T>CSubstitution - coding silent
CD8BENSG00000172116ENST00000431506p.Y29*c.87T>ASubstitution - Nonsense
USP39ENSG00000168883ENST00000409470p.D479Dc.1437T>CSubstitution - coding silent
GBE1ENSG00000114480ENST00000429644p.Y329Sc.986A>CSubstitution - Missense
GBE1ENSG00000114480ENST00000429644p.Y329Sc.986A>CSubstitution - Missense
ENST00000400482p.L171Fc.511C>TSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.L911Ic.2731C>ASubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.L911Ic.2731C>ASubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.G415Ec.1244G>ASubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.?c.2854-4C>TUnknown
HIST1H2ABENSG00000137259ENST00000259791p.F26Yc.77T>ASubstitution - Missense
THBS2ENSG00000186340ENST00000366787p.D93Nc.277G>ASubstitution - Missense
TRPC4ENSG00000133107ENST00000379681p.R322Rc.966G>ASubstitution - coding silent
ALDH9A1ENSG00000143149ENST00000354775p.S126Sc.378C>TSubstitution - coding silent
NM_000696.2p.S102Sc.306C>TSubstitution - coding silent
CLCNKAENSG00000186510ENST00000331433p.R272Rc.816G>ASubstitution - coding silent
TJP1ENSG00000104067ENST00000346128p.S1153Sc.3459C>TSubstitution - coding silent
PADI3ENSG00000142619ENST00000375460p.G44Ec.131G>ASubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.D50Dc.150C>TSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000361221p.?c.2172-1G>CUnknown
ARHGEF10LENSG00000074964ENST00000361221p.?c.2172-1G>CUnknown
ARHGEF10LENSG00000074964ENST00000375408p.?c.1491-1G>CUnknown
KCNC2ENSG00000166006ENST00000341669p.E573Kc.1717G>ASubstitution - Missense
KCNC2ENSG00000166006ENST00000298972p.E573Kc.1717G>ASubstitution - Missense
NM_182530.1p.A250Tc.748G>ASubstitution - Missense
AASDHPPTENSG00000149313ENST00000278618p.F144Fc.432C>TSubstitution - coding silent
CARSENSG00000110619ENST00000380525p.R96Rc.288T>GSubstitution - coding silent
IFITM2ENSG00000185201ENST00000399817p.L65Lc.195C>ASubstitution - coding silent
C1orf27ENSG00000157181ENST00000287859p.L342Fc.1024C>TSubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.N117Tc.350A>CSubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.N117Tc.350A>CSubstitution - Missense
GAD2ENSG00000136750ENST00000259271p.G490Ec.1469G>ASubstitution - Missense
BLMENSG00000197299ENST00000355112p.T221Ic.662C>TSubstitution - Missense
ZC2HC1CENSG00000119703ENST00000524913p.G26Rc.76G>ASubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.E721Kc.2161G>ASubstitution - Missense
SLC8A3ENSG00000100678ENST00000357887p.E719Kc.2155G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.A1469Ac.4407C>ASubstitution - coding silent
P2RX7ENSG00000089041ENST00000546057p.?c.614+1G>AUnknown
GCN1L1ENSG00000089154ENST00000300648p.V407Ic.1219G>ASubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.P177Sc.529C>TSubstitution - Missense
RNF220ENSG00000187147ENST00000361799p.T303Sc.908C>GSubstitution - Missense
RNF220ENSG00000187147ENST00000355387p.T303Sc.908C>GSubstitution - Missense
MLXIPENSG00000175727ENST00000319080p.I367Ic.1101C>ASubstitution - coding silent
CYP4A11ENSG00000187048ENST00000310638p.N234Kc.702T>GSubstitution - Missense
PPAP2BENSG00000162407ENST00000371250p.L134Fc.400C>TSubstitution - Missense
EPS15ENSG00000085832ENST00000371733p.A677Ac.2031C>TSubstitution - coding silent
TMTC1ENSG00000133687ENST00000256062p.Q81*c.241C>TSubstitution - Nonsense
ADAMTS17ENSG00000140470ENST00000268070p.Y661Hc.1981T>CSubstitution - Missense
ENST00000362017p.S197Lc.590C>TSubstitution - Missense
LCE1FENSG00000240386ENST00000334371p.C37Cc.111C>TSubstitution - coding silent
ADIPOR1ENSG00000159346ENST00000340990p.?c.618-8C>TUnknown
LMOD1ENSG00000163431ENST00000367288p.G616Sc.1846G>ASubstitution - Missense
BNIP2ENSG00000140299ENST00000267859p.?c.307-5C>GUnknown
SCUBE2ENSG00000175356ENST00000457346p.E254Dc.762G>TSubstitution - Missense
OR2M7ENSG00000177186ENST00000317965p.E173Gc.518A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.P2141Pc.6423C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.P2141Pc.6423C>TSubstitution - coding silent
ESPNENSG00000187017ENST00000377828p.A173Vc.518C>TSubstitution - Missense
CHD5ENSG00000116254ENST00000262450p.L1044Lc.3132C>TSubstitution - coding silent
MAP3K6ENSG00000142733ENST00000493901p.H132Hc.396C>TSubstitution - coding silent
MAP3K6ENSG00000142733ENST00000374040p.H132Hc.396C>TSubstitution - coding silent
C14orf37ENSG00000139971ENST00000267485p.S241Sc.723C>TSubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.P554Sc.1660C>TSubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.E3139Kc.9415G>ASubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.E3139Kc.9415G>ASubstitution - Missense
PLEKHN1ENSG00000187583ENST00000379410p.R556Rc.1668G>ASubstitution - coding silent
PLEKHN1ENSG00000187583ENST00000379409p.R608Rc.1824G>ASubstitution - coding silent
FMN1ENSG00000248905ENST00000334528p.S69Cc.206C>GSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.L1289Lc.3867C>TSubstitution - coding silent
WARSENSG00000140105ENST00000392882p.A149Dc.446C>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.L1191Fc.3571C>TSubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.L72Fc.214C>TSubstitution - Missense
SPRED1ENSG00000166068ENST00000299084p.N249Sc.746A>GSubstitution - Missense
ACTC1ENSG00000159251ENST00000290378p.S273Fc.818C>TSubstitution - Missense
KARSENSG00000065427ENST00000319410p.?c.566+8G>AUnknown
MROH2BENSG00000171495ENST00000399564p.G647Ec.1940G>ASubstitution - Missense
ENST00000545858p.L52Rc.155T>GSubstitution - Missense
LLGL2ENSG00000073350ENST00000167462p.E893Kc.2677G>ASubstitution - Missense
ZNF560ENSG00000198028ENST00000301480p.G522Ec.1565G>ASubstitution - Missense
DNM2ENSG00000079805ENST00000359692p.R107Kc.320G>ASubstitution - Missense
DNM2ENSG00000079805ENST00000389253p.R107Kc.320G>ASubstitution - Missense
CDH20ENSG00000101542ENST00000262717p.D300Nc.898G>ASubstitution - Missense
SERPINB7ENSG00000166396ENST00000336429p.C193*c.579C>ASubstitution - Nonsense
GRIN3BENSG00000116032ENST00000234389p.D801Yc.2401G>TSubstitution - Missense
KIF3BENSG00000101350ENST00000375712p.Q368*c.1102C>TSubstitution - Nonsense
ZNF613ENSG00000176024ENST00000293471p.G317Ec.950G>ASubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.T125Nc.374C>ASubstitution - Missense
CECR6ENSG00000183307ENST00000331437p.S552Fc.1655C>TSubstitution - Missense
KLC3ENSG00000104892ENST00000391946p.A359fs*6c.1075_1076insGInsertion - Frameshift
PAFAH2ENSG00000158006ENST00000374284p.?c.2delTUnknown
MAGEC1ENSG00000155495ENST00000285879p.S147Fc.440C>TSubstitution - Missense
NM_032946.1p.D341Gc.1022A>GSubstitution - Missense
TMC5ENSG00000103534ENST00000396229p.S356Fc.1067C>TSubstitution - Missense
TMC5ENSG00000103534ENST00000219821p.S110Fc.329C>TSubstitution - Missense
KCNQ5ENSG00000185760ENST00000370398p.S724Lc.2171C>TSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.P91Sc.271C>TSubstitution - Missense
ENST00000327087_v68p.E948Ec.2844G>ASubstitution - coding silent
RB1ENSG00000139687ENST00000267163p.E894Ec.2682G>ASubstitution - coding silent
CCDC122ENSG00000151773ENST00000444614p.D19Nc.55G>ASubstitution - Missense
TSPAN3ENSG00000140391ENST00000267970p.?c.433-7C>TUnknown
ENST00000377560_v62p.S3153Sc.9459G>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000358392p.S1673Lc.5018C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.S1661Lc.4982C>TSubstitution - Missense
RAP1GAPENSG00000076864ENST00000374761p.V349Vc.1047C>TSubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.P191Sc.571C>TSubstitution - Missense
C1orf35ENSG00000143793ENST00000272139p.S185Sc.555C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.T3709Tc.11127G>ASubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.A3710Tc.11128G>ASubstitution - Missense
PARVAENSG00000197702ENST00000334956p.L194Lc.582C>TSubstitution - coding silent
ENST00000458043_v65p.L1652Fc.4954C>TSubstitution - Missense
XPOTENSG00000184575ENST00000332707p.?c.1182+5G>AUnknown
GALNT4ENSG00000257594ENST00000529983p.G245Gc.735G>ASubstitution - coding silent
ABCC9ENSG00000069431ENST00000261200p.D924Nc.2770G>ASubstitution - Missense
ABCC9ENSG00000069431ENST00000261201p.D924Nc.2770G>ASubstitution - Missense
ABCC9ENSG00000069431ENST00000261200p.I580Ic.1740C>TSubstitution - coding silent
RERGLENSG00000111404ENST00000229002p.R49Rc.147G>ASubstitution - coding silent
SLC15A5ENSG00000188991ENST00000344941p.P412Sc.1234C>TSubstitution - Missense
HYKKENSG00000188266ENST00000388988p.M335Ic.1005G>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.L380Lc.1140C>TSubstitution - coding silent
CHST15ENSG00000182022ENST00000346248p.D363Nc.1087G>ASubstitution - Missense
CHST15ENSG00000182022ENST00000421115p.D363Nc.1087G>ASubstitution - Missense
OR4N2ENSG00000176294ENST00000315947p.L289Pc.866T>CSubstitution - Missense
FOXG1ENSG00000176165ENST00000382535p.L467Lc.1399C>TSubstitution - coding silent
NYNRINENSG00000205978ENST00000382554p.G937Gc.2811C>TSubstitution - coding silent
GMPR2ENSG00000100938ENST00000399440p.D259Nc.775G>ASubstitution - Missense
GMPR2ENSG00000100938ENST00000348719p.D259Nc.775G>ASubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.V1899Mc.5695G>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.T1020Mc.3059C>TSubstitution - Missense
TPCN2ENSG00000162341ENST00000294309p.Q367Qc.1101G>ASubstitution - coding silent
CHKAENSG00000110721ENST00000265689p.H450Hc.1350C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.G605Rc.1813G>ASubstitution - Missense
ENTPD7ENSG00000198018ENST00000370489p.Y8Sc.23A>CSubstitution - Missense
ENST00000393462p.P648Sc.1942C>TSubstitution - Missense
LRRK2ENSG00000188906ENST00000298910p.?c.1182-5G>AUnknown
SU_LRRK2p.?c.1182-5G>AUnknown
UTP20ENSG00000120800ENST00000261637p.Q2291Qc.6873A>GSubstitution - coding silent
HDAC1ENSG00000116478ENST00000373548p.K476Qc.1426A>CSubstitution - Missense
NM_000655.2p.?c.581-9C>TUnknown
NM_000655.2p.?c.581-10C>TUnknown
FREM2ENSG00000150893ENST00000280481p.W2031Lc.6092G>TSubstitution - Missense
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.L145Rc.434T>GSubstitution - Missense
APCENSG00000134982ENST00000457016p.S130Gc.388A>GSubstitution - Missense
EHBP1L1ENSG00000173442ENST00000309295p.D165Dc.495C>TSubstitution - coding silent
GLT6D1ENSG00000204007ENST00000371763p.F61Fc.183C>TSubstitution - coding silent
FAM92BENSG00000153789ENST00000539556p.S137Sc.411G>ASubstitution - coding silent
NDUFA9ENSG00000139180ENST00000266544p.R270Qc.809G>ASubstitution - Missense
ZEB2ENSG00000169554ENST00000303660p.S982Sc.2946C>TSubstitution - coding silent
OR2W3ENSG00000238243ENST00000360358p.G307Gc.921G>ASubstitution - coding silent
CLEC2BENSG00000110852ENST00000228438p.R101*c.301C>TSubstitution - Nonsense
ENST00000359667p.F25Fc.75C>TSubstitution - coding silent
CRHBPENSG00000145708ENST00000274368p.R203Qc.608G>ASubstitution - Missense
VITENSG00000205221ENST00000457137p.D55Nc.163G>ASubstitution - Missense
C6orf106ENSG00000196821ENST00000374023p.H276Hc.828C>TSubstitution - coding silent
ATP8B2ENSG00000143515ENST00000368489p.L185Fc.553C>TSubstitution - Missense
GPR61ENSG00000156097ENST00000404129p.R413*c.1237C>TSubstitution - Nonsense
NLRP3ENSG00000162711ENST00000391828p.D305Nc.913G>ASubstitution - Missense
LCTENSG00000115850ENST00000264162p.S769Fc.2306C>TSubstitution - Missense
IMPDH2ENSG00000178035ENST00000326739p.I250Sc.749T>GSubstitution - Missense
CCDC36ENSG00000173421ENST00000296449p.S262Pc.784T>CSubstitution - Missense
CCDC36ENSG00000173421ENST00000438782p.S262Pc.784T>CSubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.L2785Fc.8353C>TSubstitution - Missense
GRM2ENSG00000164082ENST00000395052p.L66Hc.197T>ASubstitution - Missense
ARHGEF38ENSG00000236699ENST00000420470p.E59*c.175G>TSubstitution - Nonsense
NFXL1ENSG00000170448ENST00000381538p.P519Lc.1556C>TSubstitution - Missense
COL19A1ENSG00000082293ENST00000322773p.G322Rc.964G>ASubstitution - Missense
ATP5J2ENSG00000241468ENST00000292475p.D15Nc.43G>ASubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.H256Yc.766C>TSubstitution - Missense
CA1ENSG00000133742ENST00000523953p.R247Sc.739C>ASubstitution - Missense
JAK2ENSG00000096968ENST00000381652p.E592Kc.1774G>ASubstitution - Missense
TRHRENSG00000174417ENST00000518632p.P295Lc.884C>TSubstitution - Missense
OR1J1ENSG00000136834ENST00000259357p.F200Vc.598T>GSubstitution - Missense
C9orf47ENSG00000186354ENST00000334490p.W5Rc.13T>CSubstitution - Missense
PTPDC1ENSG00000158079ENST00000288976p.S279Fc.836C>TSubstitution - Missense
PTPDC1ENSG00000158079ENST00000375360p.S227Fc.680C>TSubstitution - Missense
ALDOBENSG00000136872ENST00000374855p.E35Kc.103G>ASubstitution - Missense
ACTR1AENSG00000138107ENST00000369905p.G161Ec.482G>ASubstitution - Missense
TDRD1ENSG00000095627ENST00000251864p.E935Kc.2803G>ASubstitution - Missense
MPPED2ENSG00000066382ENST00000358117p.R229Sc.687A>TSubstitution - Missense
OR52B6ENSG00000187747ENST00000345043p.L241Fc.721C>TSubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.P785Lc.2354C>TSubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.P785Lc.2354C>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000294018p.V1028Vc.3084T>GSubstitution - coding silent
NCKAP1LENSG00000123338ENST00000293373p.H337Yc.1009C>TSubstitution - Missense
PZPENSG00000126838ENST00000381997p.R24Gc.70C>GSubstitution - Missense
SACSENSG00000151835ENST00000382298p.F2678Lc.8034C>GSubstitution - Missense
NM_014363.3p.F2531Lc.7593C>GSubstitution - Missense
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.L575Fc.1723C>TSubstitution - Missense
MAP1AENSG00000166963ENST00000300231p.P1252Sc.3754C>TSubstitution - Missense
UBN1ENSG00000118900ENST00000396658p.D498Hc.1492G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.L145Rc.434T>GSubstitution - Missense


COSMIC

205 mutations reported
3 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
JAK2ENSG00000096968ENST00000381652p.E592Kc.1774G>ASubstitution - Missense23856246
TCHHENSG00000159450ENST00000368804p.E493Qc.1477G>CSubstitution - Missense23856246
ANO7ENSG00000146205ENST00000402430p.W440*c.1320G>ASubstitution - Nonsense23856246
EMILIN2ENSG00000132205ENST00000254528p.Y948fs*1c.2843_2844insAInsertion - Frameshift23856246
JAK3ENSG00000105639ENST00000458235p.P693Lc.2078C>TSubstitution - Missense23856246
EGFRENSG00000146648ENST00000275493p.P753Sc.2257C>TSubstitution - Missense23856246
JAK3ENSG00000105639ENST00000458235p.P693Lc.2078C>TSubstitution - Missense23856246
TRIM59ENSG00000213186ENST00000309784p.W47*c.141G>ASubstitution - Nonsense23856246
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense12819038
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense16001072
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense15009714
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense12068308
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense20689758
ATP2B3ENSG00000067842ENST00000263519p.G793Ec.2378G>ASubstitution - Missense23856246
NFXL1ENSG00000170448ENST00000381538p.P519Lc.1556C>TSubstitution - Missense23856246
CLEC2BENSG00000110852ENST00000228438p.R101*c.301C>TSubstitution - Nonsense23856246
TP53ENSG00000141510ENST00000269305p.L145Rc.434T>GSubstitution - Missense23856246
UNC79ENSG00000133958ENST00000553484p.P612Lc.1835C>TSubstitution - Missense23856246
PTPN23ENSG00000076201ENST00000265562p.K1296delKc.3886_3888delAAGDeletion - In frame23856246
MYH2ENSG00000125414ENST00000245503p.A1446Vc.4337C>TSubstitution - Missense23856246
MYO1GENSG00000136286ENST00000258787p.R324Hc.971G>ASubstitution - Missense23856246
ARHGAP31ENSG00000031081ENST00000264245p.S487Fc.1460C>TSubstitution - Missense23856246
SIRT4ENSG00000089163ENST00000202967p.G135Vc.404G>TSubstitution - Missense23856246
GTF2E1ENSG00000153767ENST00000283875p.R60*c.178C>TSubstitution - Nonsense23856246
NAV3ENSG00000067798ENST00000397909p.T240fs*29c.718_721delACCADeletion - Frameshift23856246
KRTAP5-1ENSG00000205869ENST00000382171p.S111_C112insGc.333_334insGGCInsertion - In frame23856246
ENST00000338282p.E1196Kc.3586G>ASubstitution - Missense23856246
ENST00000414315p.L13Rc.38T>GSubstitution - Missense23856246
COL7A1ENSG00000114270ENST00000328333p.P2152Sc.6454C>TSubstitution - Missense23856246
CDK4ENSG00000135446ENST00000257904p.R24Cc.70C>TSubstitution - Missense23856246
CHEK2ENSG00000183765ENST00000328354p.E394Kc.1180G>ASubstitution - Missense23856246
IL27RAENSG00000104998ENST00000263379p.R446*c.1336C>TSubstitution - Nonsense23856246
SAMD15ENSG00000100583ENST00000216471p.S505fs*5c.1515_1516delTGDeletion - Frameshift23856246
IQSEC1ENSG00000144711ENST00000273221p.D256Nc.766G>ASubstitution - Missense23856246
CSMD3ENSG00000164796ENST00000343508p.S2079Cc.6235A>TSubstitution - Missense23856246
KCNN2ENSG00000080709ENST00000264773p.A58_V59insAc.173_174insCGCInsertion - In frame23856246
RIC3ENSG00000166405ENST00000343202p.K210Ic.629A>TSubstitution - Missense23856246
ADAMDEC1ENSG00000134028ENST00000256412p.R317*c.949C>TSubstitution - Nonsense23856246
NM_152586.2p.P714Lc.2141C>TSubstitution - Missense23856246
UNC79ENSG00000133958ENST00000256339p.P435Lc.1304C>TSubstitution - Missense23856246
LLGL2ENSG00000073350ENST00000392550p.E893Kc.2677G>ASubstitution - Missense23856246
SYNE1ENSG00000131018ENST00000423061p.E5255Kc.15763G>ASubstitution - Missense23856246
IL1RL2ENSG00000115598ENST00000264257p.P545Sc.1633C>TSubstitution - Missense23856246
PTENENSG00000171862ENST00000371953p.T167Ac.499A>GSubstitution - Missense23856246
JPH1ENSG00000104369ENST00000342232p.S299Fc.896C>TSubstitution - Missense23856246
KCNH5ENSG00000140015ENST00000322893p.P498Sc.1492C>TSubstitution - Missense23856246
DPP4ENSG00000197635ENST00000360534p.P362Sc.1084C>TSubstitution - Missense23856246
TP53ENSG00000141510ENST00000455263p.L145Rc.434T>GSubstitution - Missense23856246
MYH11ENSG00000133392ENST00000396324p.E1203Kc.3607G>ASubstitution - Missense23856246
PAK4ENSG00000130669ENST00000358301p.S247delSc.739_741delTCCDeletion - In frame23856246
SIGLECL1ENSG00000179213ENST00000316401p.M41fs*27c.120_121insGInsertion - Frameshift23856246
CSMD3ENSG00000164796ENST00000297405p.S2119Cc.6355A>TSubstitution - Missense23856246
KCNH5ENSG00000140015ENST00000394968p.P440Sc.1318C>TSubstitution - Missense23856246
ENST00000318560_v70p.K609delKc.1826_1828delAGADeletion - In frame23856246
SORCS3ENSG00000156395ENST00000369701p.Y688Dc.2062T>GSubstitution - Missense23856246
EP400ENSG00000183495ENST00000389561p.E1101Kc.3301G>ASubstitution - Missense23856246
ARHGEF38ENSG00000236699ENST00000265154p.E59*c.175G>TSubstitution - Nonsense23856246
ZEB2ENSG00000169554ENST00000303660p.S982Fc.2945C>TSubstitution - Missense23856246
NOS1ENSG00000089250ENST00000317775p.S482Fc.1445C>TSubstitution - Missense23856246
MEGF6ENSG00000162591ENST00000356575p.L124Fc.370C>TSubstitution - Missense23856246
MAGI1ENSG00000151276ENST00000483466p.E823fs*31c.2455_2456delGADeletion - Frameshift23856246
SYNE1ENSG00000131018ENST00000265368p.E5326Kc.15976G>ASubstitution - Missense23856246
IQSEC1ENSG00000144711ENST00000429247p.D242Nc.724G>ASubstitution - Missense23856246
CDCP2ENSG00000157211ENST00000371330p.M409fs*>42c.1216_1217insCInsertion - Frameshift23856246
SYNE1ENSG00000131018ENST00000265368p.E5326Kc.15976G>ASubstitution - Missense23856246
SHANK2ENSG00000162105ENST00000338508p.V1624Vc.4872T>GSubstitution - coding silent23856246
ADAM7ENSG00000069206ENST00000175238p.M359Ic.1077G>ASubstitution - Missense23856246
PROS1ENSG00000184500ENST00000394236p.A348Vc.1043C>TSubstitution - Missense23856246
CANXENSG00000127022ENST00000247461p.R359Kc.1076G>ASubstitution - Missense23856246
LRP1BENSG00000168702ENST00000389484p.R2161*c.6481C>TSubstitution - Nonsense23856246
REPS1ENSG00000135597ENST00000258062p.H296Yc.886C>TSubstitution - Missense23856246
ARVCFENSG00000099889ENST00000263207p.P344Lc.1031C>TSubstitution - Missense23856246
CHKAENSG00000110721ENST00000265689p.Q451*c.1351C>TSubstitution - Nonsense23856246
MRPL4ENSG00000105364ENST00000307422p.P84Sc.250C>TSubstitution - Missense23856246
OR4D2ENSG00000255713ENST00000545221p.G41Ec.122G>ASubstitution - Missense23856246
NLGN4XENSG00000146938ENST00000381095p.Q328*c.982C>TSubstitution - Nonsense23856246
GOLGB1ENSG00000173230ENST00000340645p.L2785Fc.8353C>TSubstitution - Missense23856246
KLC3ENSG00000104892ENST00000391946p.A359fs*6c.1075_1076insGInsertion - Frameshift23856246
SACSENSG00000151835ENST00000382298p.F2678Lc.8034C>GSubstitution - Missense23856246
GLT8D2ENSG00000120820ENST00000360814p.E105fs*4c.309_310delGADeletion - Frameshift23856246
LLGL2ENSG00000073350ENST00000167462p.E893Kc.2677G>ASubstitution - Missense23856246
ATP2B3ENSG00000067842ENST00000349466p.G793Ec.2378G>ASubstitution - Missense23856246
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense16170021
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense17699719
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense20562921
MPPED2ENSG00000066382ENST00000448418p.R229Sc.687A>TSubstitution - Missense23856246
HS3ST2ENSG00000122254ENST00000261374p.P351Lc.1052C>TSubstitution - Missense23856246
ABCB1ENSG00000085563ENST00000265724p.A1217Tc.3649G>ASubstitution - Missense23856246
MTM1ENSG00000171100ENST00000370396p.S229Lc.686C>TSubstitution - Missense23856246
TRPM2ENSG00000142185ENST00000397928p.T1442Mc.4325C>TSubstitution - Missense23856246
ATP2B3ENSG00000067842ENST00000370186p.G779Ec.2336G>ASubstitution - Missense23856246
GPC6ENSG00000183098ENST00000377047p.E82Kc.244G>ASubstitution - Missense23856246
ATP8B2ENSG00000143515ENST00000368487p.L152Fc.454C>TSubstitution - Missense23856246
NPHS1ENSG00000161270ENST00000378910p.L969fs*10c.2903_2904insCInsertion - Frameshift23856246
KRT24ENSG00000167916ENST00000264651p.A223Tc.667G>ASubstitution - Missense23856246
CYP2U1ENSG00000155016ENST00000332884p.R390*c.1168C>TSubstitution - Nonsense23856246
CCDC36ENSG00000173421ENST00000438782p.S262Pc.784T>CSubstitution - Missense23856246
PTPDC1ENSG00000158079ENST00000375360p.S227Fc.680C>TSubstitution - Missense23856246
TDRD1ENSG00000095627ENST00000251864p.E935Kc.2803G>ASubstitution - Missense23856246
NM_014903.3p.T240fs*29c.718_721delACCADeletion - Frameshift23856246
ENST00000545858p.L52Rc.155T>GSubstitution - Missense23856246
MAGEC1ENSG00000155495ENST00000285879p.S147Fc.440C>TSubstitution - Missense23856246
DNM2ENSG00000079805ENST00000389253p.R107Kc.320G>ASubstitution - Missense23856246
ZBTB21ENSG00000173276ENST00000398499p.E885delEc.2649_2651delGGADeletion - In frame23856246
GRM2ENSG00000164082ENST00000395052p.L66Hc.197T>ASubstitution - Missense23856246
KIF3BENSG00000101350ENST00000375712p.Q368*c.1102C>TSubstitution - Nonsense23856246
ACTR1AENSG00000138107ENST00000369905p.G161Ec.482G>ASubstitution - Missense23856246
ALDOBENSG00000136872ENST00000374855p.E35Kc.103G>ASubstitution - Missense23856246
C9orf47ENSG00000186354ENST00000334490p.W5Rc.13T>CSubstitution - Missense23856246
NCKAP1LENSG00000123338ENST00000293373p.H337Yc.1009C>TSubstitution - Missense23856246
ABL1ENSG00000097007ENST00000372348p.K628delKc.1883_1885delAGADeletion - In frame23856246
GRIN3BENSG00000116032ENST00000234389p.D801Yc.2401G>TSubstitution - Missense23856246
PTPDC1ENSG00000158079ENST00000288976p.S279Fc.836C>TSubstitution - Missense23856246
SHANK2ENSG00000162105ENST00000294018p.V1028Vc.3084T>GSubstitution - coding silent23856246
MPPED2ENSG00000066382ENST00000358117p.R229Sc.687A>TSubstitution - Missense23856246
FASTKD3ENSG00000124279ENST00000264669p.I240delIc.715_717delATTDeletion - In frame23856246
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.L575Fc.1723C>TSubstitution - Missense23856246
ADAM12ENSG00000148848ENST00000368679p.P785Lc.2354C>TSubstitution - Missense23856246
PAFAH2ENSG00000158006ENST00000374284p.?c.2delTUnknown23856246
NLRP3ENSG00000162711ENST00000391828p.D305Nc.913G>ASubstitution - Missense23856246
ATP5J2ENSG00000241468ENST00000292475p.D15Nc.43G>ASubstitution - Missense23856246
ANO7ENSG00000146205ENST00000274979p.W441*c.1323G>ASubstitution - Nonsense23856246
TRHRENSG00000174417ENST00000518632p.P295Lc.884C>TSubstitution - Missense23856246
DNM2ENSG00000079805ENST00000359692p.R107Kc.320G>ASubstitution - Missense23856246
NM_032946.1p.D341Gc.1022A>GSubstitution - Missense23856246
LILRB2ENSG00000131042ENST00000314446p.T125Nc.374C>ASubstitution - Missense23856246
ARHGEF38ENSG00000236699ENST00000420470p.E59*c.175G>TSubstitution - Nonsense23856246
BZRAP1ENSG00000005379ENST00000343736p.S1417fs*40c.4247_4248insAInsertion - Frameshift23856246
KCNN2ENSG00000080709ENST00000512097p.A58_V59insAc.173_174insCGCInsertion - In frame23856246
COL19A1ENSG00000082293ENST00000322773p.G322Rc.964G>ASubstitution - Missense23856246
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense23856246
ZNF613ENSG00000176024ENST00000293471p.G317Ec.950G>ASubstitution - Missense23856246
PTPN14ENSG00000152104ENST00000366956p.S550fs*3c.1646_1647insCInsertion - Frameshift23856246
UBN1ENSG00000118900ENST00000396658p.D498Hc.1492G>CSubstitution - Missense23856246
OR1J1ENSG00000136834ENST00000259357p.F200Vc.598T>GSubstitution - Missense23856246
CCDC36ENSG00000173421ENST00000296449p.S262Pc.784T>CSubstitution - Missense23856246
ATP8B2ENSG00000143515ENST00000368489p.L185Fc.553C>TSubstitution - Missense23856246
LCTENSG00000115850ENST00000264162p.S769Fc.2306C>TSubstitution - Missense23856246
GPR61ENSG00000156097ENST00000404129p.R413*c.1237C>TSubstitution - Nonsense23856246
CDH20ENSG00000101542ENST00000262717p.D300Nc.898G>ASubstitution - Missense23856246
ARFGEF1ENSG00000066777ENST00000262215p.H256Yc.766C>TSubstitution - Missense23856246
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense19996208
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense20551065
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense18628094
APCENSG00000134982ENST00000457016p.S130Gc.388A>GSubstitution - Missense15133491
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense19441164
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense15191558
PTENENSG00000171862ENST00000371953p.R130Qc.?Substitution - Missense21725359
PTENENSG00000171862ENST00000371953p.T167Ac.?Substitution - Missense21725359
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense21725359
PTENENSG00000171862ENST00000371953p.T167Ac.499A>GSubstitution - Missense17260012
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense17260012
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense18790768
EGFRENSG00000146648ENST00000275493p.P753Sc.2257C>TSubstitution - Missense18006781
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense17145850
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense21262211
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense24838835
PTENENSG00000171862ENST00000371953p.T167Ac.499A>GSubstitution - Missense10766161
EGFRENSG00000146648ENST00000275493p.P753Sc.?Substitution - Missense22515704
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense22515704
PTENENSG00000171862ENST00000371953p.T167Ac.499A>GSubstitution - Missense16273242
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense16273242
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense18650848
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense20406486
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense12670889
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense15467732
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense17308088
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense19799798
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense15588860
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense18483309
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense18632627
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense18602919
EGFRENSG00000146648ENST00000275493p.P753Sc.?Substitution - Missense20406486
C16orf78ENSG00000166152ENST00000299191p.D235Nc.703G>ASubstitution - Missense23856246
OR7C2ENSG00000127529ENST00000248072p.S229_A230insTc.686_687insAACInsertion - In frame23856246
OR51B5ENSG00000242180ENST00000300773p.A66fs*48c.192_208del17Deletion - Frameshift23856246
TP53ENSG00000141510ENST00000269305p.L145Rc.434T>GSubstitution - Missense23856246
ATP2B3ENSG00000067842ENST00000359149p.G793Ec.2378G>ASubstitution - Missense23856246
BZRAP1ENSG00000005379ENST00000355701p.S1417fs*40c.4247_4248insAInsertion - Frameshift23856246
ST6GAL2ENSG00000144057ENST00000361686p.Y472*c.1416C>GSubstitution - Nonsense23856246
ADAM12ENSG00000148848ENST00000368679p.P785Lc.2354C>TSubstitution - Missense23856246
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense21295875
IMPDH2ENSG00000178035ENST00000326739p.I250Sc.749T>GSubstitution - Missense23856246
MAP1AENSG00000166963ENST00000300231p.P1252Sc.3754C>TSubstitution - Missense23856246
PZPENSG00000126838ENST00000261336p.R155Gc.463C>GSubstitution - Missense23856246
KIF3CENSG00000084731ENST00000264712p.A265fs*24c.790_791insCInsertion - Frameshift23856246
USP54ENSG00000166348ENST00000408019p.P1631Lc.4892C>TSubstitution - Missense23856246
TMEM40ENSG00000088726ENST00000314124p.E129Kc.385G>ASubstitution - Missense23856246
IL1RL2ENSG00000115598ENST00000441515p.P427Sc.1279C>TSubstitution - Missense23856246
GPR160ENSG00000173890ENST00000355897p.S186Lc.557C>TSubstitution - Missense23856246
ARID1AENSG00000117713ENST00000324856p.P1456Lc.4367C>TSubstitution - Missense23856246
ABL1ENSG00000097007ENST00000318560p.K609delKc.1826_1828delAGADeletion - In frame23856246
ZNF560ENSG00000198028ENST00000301480p.G522Ec.1565G>ASubstitution - Missense23856246
CA1ENSG00000133742ENST00000523953p.R247Sc.739C>ASubstitution - Missense23856246
GZMAENSG00000145649ENST00000274306p.G32Ec.95G>ASubstitution - Missense23856246
NM_014363.3p.F2531Lc.7593C>GSubstitution - Missense23856246
TP53ENSG00000141510ENST00000413465p.L145Rc.434T>GSubstitution - Missense23856246
CECR6ENSG00000183307ENST00000331437p.S552Fc.1655C>TSubstitution - Missense23856246
MAGI1ENSG00000151276ENST00000330909p.E823fs*31c.2455_2456delGADeletion - Frameshift23856246
SERPINB7ENSG00000166396ENST00000336429p.C193*c.579C>ASubstitution - Nonsense23856246
NM_002711.2p.E528Kc.1582G>ASubstitution - Missense23856246
PZPENSG00000126838ENST00000381997p.R24Gc.70C>GSubstitution - Missense23856246
OR52B6ENSG00000187747ENST00000345043p.S113Fc.338C>TSubstitution - Missense23856246
OR52B6ENSG00000187747ENST00000345043p.L241Fc.721C>TSubstitution - Missense23856246
DIS3ENSG00000083520ENST00000377767p.L668*c.2003T>ASubstitution - Nonsense23856246