Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
Similar Cell Lines

DOV-13 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

709 mutations reported
283 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
PIK3AP1ENSG00000155629ENST00000339364p.P95Pc.285G>TSubstitution - coding silent
EIF4G3ENSG00000075151ENST00000264211p.T407Pc.1219A>CSubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.?c.3109+9G>AUnknown
FGF13ENSG00000129682ENST00000370603p.P47Pc.141C>ASubstitution - coding silent
ZFYVE28ENSG00000159733ENST00000290974p.P671Pc.2013C>TSubstitution - coding silent
AK9ENSG00000155085ENST00000424296p.D151Dc.453C>TSubstitution - coding silent
KIAA1683ENSG00000130518ENST00000392413p.G1277Gc.3831C>TSubstitution - coding silent
ENST00000328974p.Q329Qc.987A>GSubstitution - coding silent
MICAL1ENSG00000135596ENST00000358807p.E881delEc.2643_2645delAGADeletion - In frame
LLGL2ENSG00000073350ENST00000167462p.A282Ac.846G>ASubstitution - coding silent
ENST00000256343_v70p.P866Lc.2597C>TSubstitution - Missense
CYLC2ENSG00000155833ENST00000374798p.N334Dc.1000A>GSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.H1835Rc.5504A>GSubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.?c.6139-4T>CUnknown
JARID2ENSG00000008083ENST00000341776p.T943Tc.2829T>CSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P2342Lc.7025C>TSubstitution - Missense
ENST00000405167p.T2795Sc.8383A>TSubstitution - Missense
ZNF432ENSG00000256087ENST00000221315p.R302Hc.905G>ASubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.P132Lc.395C>TSubstitution - Missense
FRMPD3ENSG00000147234ENST00000276185p.V57Ic.169G>ASubstitution - Missense
CERKLENSG00000188452ENST00000339098p.H211Hc.633C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.L2005Hc.6014T>ASubstitution - Missense
ANO9ENSG00000185101ENST00000332826p.?c.539+5C>TUnknown
LACC1ENSG00000179630ENST00000325686p.R219Rc.657A>GSubstitution - coding silent
KIF27ENSG00000165115ENST00000376347p.M186Vc.556A>GSubstitution - Missense
SIMC1ENSG00000170085ENST00000429602p.S199_N200insSc.598_599insGCAInsertion - In frame
ENST00000416855p.L348Lc.1044G>ASubstitution - coding silent
CAMKK2ENSG00000110931ENST00000392474p.C159Cc.477T>CSubstitution - coding silent
GRM6ENSG00000113262ENST00000231188p.P431Pc.1293G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.V2867Lc.8599G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S2789Ic.8366G>TSubstitution - Missense
ENST00000405167p.H3197Dc.9589C>GSubstitution - Missense
FOXD4L5ENSG00000204779ENST00000377420p.R15Hc.44G>ASubstitution - Missense
GALK2ENSG00000156958ENST00000560031p.L316Mc.946C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.L1907Lc.5719C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.L1899Hc.5696T>ASubstitution - Missense
YME1L1ENSG00000136758ENST00000326799p.?c.2092-7G>TUnknown
NM_139155.1p.H349Hc.1047C>TSubstitution - coding silent
VPS51ENSG00000149823ENST00000279281p.C502Yc.1505G>ASubstitution - Missense
SCNN1AENSG00000111319ENST00000228916p.V193Vc.579C>ASubstitution - coding silent
ENST00000359737p.T108Tc.324G>ASubstitution - coding silent
SCN1AENSG00000144285ENST00000423058p.V906Mc.2716G>ASubstitution - Missense
ENST00000316490p.Q2546Kc.7636C>ASubstitution - Missense
NF1ENSG00000196712ENST00000358273p.Q531*c.1591C>TSubstitution - Nonsense
KLKB1ENSG00000164344ENST00000264690p.C227Cc.681T>CSubstitution - coding silent
CARD8ENSG00000105483ENST00000391898p.A380Ac.1140T>CSubstitution - coding silent
PDZD2ENSG00000133401ENST00000282493p.K2495Rc.7484A>GSubstitution - Missense
ENST00000405167p.D2405Ec.7215C>ASubstitution - Missense
TPTEENSG00000166157ENST00000298232p.?c.1117-2A>GUnknown
MYH4ENSG00000264424ENST00000255381p.V609Mc.1825G>ASubstitution - Missense
ENST00000356127p.S23769Lc.71306C>TSubstitution - Missense
SUN5ENSG00000167098ENST00000356173p.H371Qc.1113C>ASubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.T385Ic.1154C>TSubstitution - Missense
LILRB3ENSG00000204577ENST00000346401p.H409Yc.1225C>TSubstitution - Missense
FRA10AC1ENSG00000148690ENST00000394100p.N63Ic.188A>TSubstitution - Missense
MICAL1ENSG00000135596ENST00000358807p.A989Ac.2967C>TSubstitution - coding silent
NFATC1ENSG00000131196ENST00000329101p.P778Pc.2334G>ASubstitution - coding silent
ENST00000405167p.T2334Ac.7000A>GSubstitution - Missense
PLB1ENSG00000163803ENST00000327757p.P573Lc.1718C>TSubstitution - Missense
NIF3L1ENSG00000196290ENST00000359683p.E283Ec.849G>ASubstitution - coding silent
NM_003319p.D25592Vc.76775A>TSubstitution - Missense
NM_003319p.S17274Lc.51821C>TSubstitution - Missense
ENST00000360191p.G249Vc.746G>TSubstitution - Missense
NM_012216.2p.M623Ic.1869G>TSubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.A1004Ac.3012G>ASubstitution - coding silent
KIF16BENSG00000089177ENST00000354981p.A1004Ac.3012G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.L2013Lc.6037C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.E2007*c.6019G>TSubstitution - Nonsense
IRF2BPLENSG00000119669ENST00000238647p.S318Sc.954G>ASubstitution - coding silent
FOLR3ENSG00000110203ENST00000456237p.H42Yc.124C>TSubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.?c.144-5G>AUnknown
CBLN4ENSG00000054803ENST00000064571p.H125Hc.375C>TSubstitution - coding silent
DRG2ENSG00000108591ENST00000225729p.H323Lc.968A>TSubstitution - Missense
WDR81ENSG00000167716ENST00000309182p.R714Cc.2140C>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.P2337Pc.7011A>GSubstitution - coding silent
HCAR3ENSG00000255398ENST00000528880p.R187Qc.560G>ASubstitution - Missense
FESENSG00000182511ENST00000328850p.H216Hc.648C>TSubstitution - coding silent
FAM169BENSG00000185087ENST00000558256p.A71Vc.212C>TSubstitution - Missense
PZPENSG00000126838ENST00000381997p.E266*c.796G>TSubstitution - Nonsense
KRTAP5-10ENSG00000204572ENST00000398531p.S26Sc.78C>TSubstitution - coding silent
ENST00000432996p.C869fs*38c.2604delCDeletion - Frameshift
AKAP11ENSG00000023516ENST00000025301p.S873Nc.2618G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.H1046Qc.3138T>ASubstitution - Missense
DYRK1BENSG00000105204ENST00000593685p.R344Cc.1030C>TSubstitution - Missense
CYP4F12ENSG00000186204ENST00000324632p.?c.648-7T>CUnknown
LPHN3ENSG00000150471ENST00000512091p.I1152Nc.3455T>ASubstitution - Missense
ENST00000305759p.P565Pc.1695T>CSubstitution - coding silent
CPT1BENSG00000205560ENST00000395650p.P319Pc.957G>ASubstitution - coding silent
GDPD2ENSG00000130055ENST00000453994p.D37Nc.109G>ASubstitution - Missense
MAZENSG00000103495ENST00000322945p.?c.1108-6C>TUnknown
ENST00000329365_v68p.L28Pc.83T>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.D25717Vc.77150A>TSubstitution - Missense
MIER3ENSG00000155545ENST00000381213p.A124Ac.372G>ASubstitution - coding silent
GABRA6ENSG00000145863ENST00000274545p.A300Ac.900C>TSubstitution - coding silent
PCDHGA2ENSG00000081853ENST00000394576p.D234Yc.700G>TSubstitution - Missense
ENST00000344519_v61p.T385Kc.1154C>ASubstitution - Missense
ZNF688ENSG00000229809ENST00000223459p.R21Sc.63G>TSubstitution - Missense
TRIB2ENSG00000071575ENST00000155926p.S210Sc.630C>TSubstitution - coding silent
IQCA1ENSG00000132321ENST00000409907p.G324Rc.970G>ASubstitution - Missense
DBF4ENSG00000006634ENST00000265728p.T116Sc.347C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A5647Tc.16939G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A5647Tc.16939G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A2766Tc.8296G>ASubstitution - Missense
ENST00000405167p.T2462Ac.7384A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A2878Tc.8632G>ASubstitution - Missense
ENST00000405167p.S3445Gc.10333A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H989Dc.2965C>GSubstitution - Missense
CRYBA4ENSG00000196431ENST00000354760p.V16Gc.47T>GSubstitution - Missense
C20orf96ENSG00000196476ENST00000360321p.?c.2_20+12>26Unknown
EBF4ENSG00000088881ENST00000380648p.P340Pc.1020C>TSubstitution - coding silent
MANFENSG00000145050ENST00000528157p.?c.223-10A>CUnknown
KIR2DL3ENSG00000243772ENST00000342376p.S2Lc.5C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.L2013Lc.6037C>TSubstitution - coding silent
HSPA14ENSG00000187522ENST00000378372p.E101Ec.303A>GSubstitution - coding silent
OR2G2ENSG00000177489ENST00000320065p.V116Ic.346G>ASubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.L1416Lc.4246C>TSubstitution - coding silent
C19orf44ENSG00000105072ENST00000221671p.S294Lc.881C>TSubstitution - Missense
PPM1FENSG00000100034ENST00000263212p.E101*c.301G>TSubstitution - Nonsense
ENST00000316490_v65p.K1878Mc.5633A>TSubstitution - Missense
ENST00000305759p.D234Yc.700G>TSubstitution - Missense
RFESDENSG00000175449ENST00000458310p.D126Ec.378T>ASubstitution - Missense
RFXANKENSG00000064490ENST00000303088p.A63Tc.187G>ASubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.N563Nc.1689C>TSubstitution - coding silent
IQCA1ENSG00000132321ENST00000409907p.G324Rc.970G>ASubstitution - Missense
PDLIM2ENSG00000120913ENST00000308354p.T597Pc.1789A>CSubstitution - Missense
C3orf49ENSG00000163632ENST00000295896p.K266Ic.797A>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.S1643Sc.4929G>ASubstitution - coding silent
AP2A1ENSG00000196961ENST00000359032p.L661Lc.1981C>TSubstitution - coding silent
ENST00000359032_v68p.L661Lc.1981C>TSubstitution - coding silent
FYBENSG00000082074ENST00000351578p.T380Sc.1139C>GSubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.N1282Nc.3846C>TSubstitution - coding silent
OR2M2ENSG00000198601ENST00000359682p.D11Gc.32A>GSubstitution - Missense
THEM5ENSG00000196407ENST00000368817p.Q225fs*>23c.673delCDeletion - Frameshift
PZPENSG00000126838ENST00000261336p.E397*c.1189G>TSubstitution - Nonsense
C14orf79ENSG00000140104ENST00000547315p.C296Cc.888C>TSubstitution - coding silent
ENST00000381114p.A2622Ac.7866T>GSubstitution - coding silent
ENSG00000228259ENST00000418535p.L106Vc.316C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1680Ac.5038C>GSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.?c.1171-2A>GUnknown
MYH8ENSG00000133020ENST00000403437p.Y725fs*1c.2173_2174insAInsertion - Frameshift
TRHRENSG00000174417ENST00000518632p.F301Vc.901T>GSubstitution - Missense
ENST00000316490p.K1830Mc.5489A>TSubstitution - Missense
ENST00000344519_v61p.T384Tc.1152T>GSubstitution - coding silent
UBQLN2ENSG00000188021ENST00000338222p.T113Ac.337A>GSubstitution - Missense
ARSGENSG00000141337ENST00000448504p.W274*c.821G>ASubstitution - Nonsense
PLB1ENSG00000163803ENST00000422425p.P562Lc.1685C>TSubstitution - Missense
ENST00000405167p.V2867Lc.8599G>CSubstitution - Missense
ENST00000405167p.H989Dc.2965C>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.S17399Lc.52196C>TSubstitution - Missense
SLC39A14ENSG00000104635ENST00000359741p.L5Lc.15G>CSubstitution - coding silent
NUP62CLENSG00000198088ENST00000432145p.T179Tc.535A>GSubstitution - coding silent
HCAR3ENSG00000255398ENST00000528880p.R187Qc.560G>ASubstitution - Missense
OTOGENSG00000188162ENST00000399397p.P527Pc.1581G>ASubstitution - coding silent
GANABENSG00000089597ENST00000356638p.P111Rc.332C>GSubstitution - Missense
ENST00000371426p.N63Ic.188A>TSubstitution - Missense
CAMSAP3ENSG00000076826ENST00000446248p.L78Lc.234G>TSubstitution - coding silent
PLB1ENSG00000163803ENST00000329020p.P261Lc.782C>TSubstitution - Missense
MICAL1ENSG00000135596ENST00000368952p.E900delEc.2700_2702delAGADeletion - In frame
ENST00000380369p.P94Sc.280C>TSubstitution - Missense
NANOS3ENSG00000187556ENST00000339133p.G171_A172insGGc.514_515insGAGGAGInsertion - In frame
ENST00000316490_v65p.R3724Wc.11170C>TSubstitution - Missense
ZC3H7BENSG00000100403ENST00000352645p.D893Nc.2677G>ASubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.V2899Vc.8697A>GSubstitution - coding silent
PTCH2ENSG00000117425ENST00000372192p.P627Rc.1880C>GSubstitution - Missense
CASQ2ENSG00000118729ENST00000261448p.H244Yc.730C>TSubstitution - Missense
NM_007365.1p.V50Lc.148G>CSubstitution - Missense
ENST00000331572p.?c.199-8C>TUnknown
FAM216BENSG00000179813ENST00000313851p.R79Qc.236G>ASubstitution - Missense
OPN3ENSG00000054277ENST00000331838p.C155Yc.464G>ASubstitution - Missense
HSPA14ENSG00000187522ENST00000441647p.E90Gc.269A>GSubstitution - Missense
HPENSG00000257017ENST00000228226p.H222Pc.665A>CSubstitution - Missense
RBM33ENSG00000184863ENST00000401878p.Q593_Q596delQPQQc.1776_1787del12Deletion - In frame
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
MIS12ENSG00000167842ENST00000381165p.A38Ac.114C>TSubstitution - coding silent
ENST00000359737p.G1090Gc.3270C>TSubstitution - coding silent
SU_SK681p.D635Hc.1903G>CSubstitution - Missense
ENST00000405167p.T2254Ac.6760A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S23771Lc.71312C>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000377110p.S1639Sc.4917G>ASubstitution - coding silent
SLC7A10ENSG00000130876ENST00000253188p.R162Rc.486G>TSubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.D235Vc.704A>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.P2337Pc.7011A>GSubstitution - coding silent
OR2AJ1ENSG00000177275ENST00000318244p.K272Ec.814A>GSubstitution - Missense
ENST00000382949p.L130Lc.390G>ASubstitution - coding silent
SNRPNENSG00000128739ENST00000400100p.G219Gc.657A>GSubstitution - coding silent
AMOTL1ENSG00000166025ENST00000433060p.S90Sc.270C>TSubstitution - coding silent
GANABENSG00000089597ENST00000346178p.P111Rc.332C>GSubstitution - Missense
FGFR1OP2ENSG00000111790ENST00000229395p.R138Cc.412C>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.P2337Pc.7011A>GSubstitution - coding silent
BSPRYENSG00000119411ENST00000374183p.A261Sc.781G>TSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.P1235Pc.3705G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2462Ac.7384A>GSubstitution - Missense
ENST00000405167p.D2949Gc.8846A>GSubstitution - Missense
ENST00000405167p.P3440Ac.10318C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H3421Qc.10263C>GSubstitution - Missense
ENST00000405167p.V1017Ac.3050T>CSubstitution - Missense
LILRB3ENSG00000204577ENST00000391750p.H409Yc.1225C>TSubstitution - Missense
ENSG00000267848ENST00000595604p.R54Pc.161G>CSubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.K601Rc.1802A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G17950Ac.53849G>CSubstitution - Missense
SLC25A47ENSG00000140107ENST00000361529p.A79Vc.236C>TSubstitution - Missense
FYBENSG00000082074ENST00000351578p.T380Sc.1139C>GSubstitution - Missense
SSTR1ENSG00000139874ENST00000267377p.?c.1170_1176delGCTCTGAUnknown
PCNXL3ENSG00000197136ENST00000355703p.I56Fc.166A>TSubstitution - Missense
PROSER1ENSG00000120685ENST00000352251p.T339Tc.1017C>TSubstitution - coding silent
SCCPDHENSG00000143653ENST00000366510p.N116Kc.348T>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.S1836Sc.5508T>ASubstitution - coding silent
FAM90A1ENSG00000171847ENST00000307435p.?c.123+6T>CUnknown
OR4K5ENSG00000176281ENST00000315915p.I255Tc.764T>CSubstitution - Missense
TRIOENSG00000038382ENST00000344135p.A393Ac.1179G>ASubstitution - coding silent
PSMG4ENSG00000180822ENST00000324987p.F51Yc.152T>ASubstitution - Missense
GTF2H4ENSG00000213780ENST00000259895p.G305Sc.913G>ASubstitution - Missense
AGTPBP1ENSG00000135049ENST00000376083p.S111Sc.333A>GSubstitution - coding silent
SLC6A19ENSG00000174358ENST00000304460p.G161Vc.482G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.D25784Vc.77351A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S17466Lc.52397C>TSubstitution - Missense
HTR1FENSG00000179097ENST00000319595p.M328Vc.982A>GSubstitution - Missense
RBMXL3ENSG00000175718ENST00000424776p.S536Ic.1607G>TSubstitution - Missense
ACADLENSG00000115361ENST00000233710p.K333Nc.999A>TSubstitution - Missense
NOTCH2ENSG00000134250ENST00000256646p.M883Vc.2647A>GSubstitution - Missense
MECRENSG00000116353ENST00000263702p.I335Vc.1003A>GSubstitution - Missense
TPT1ENSG00000133112ENST00000530705p.G166Gc.498T>GSubstitution - coding silent
CSPG4ENSG00000173546ENST00000308508p.R535Wc.1603C>TSubstitution - Missense
POM121L12ENSG00000221900ENST00000408890p.R208Wc.622C>TSubstitution - Missense
HTR3EENSG00000186038ENST00000335304p.S461Sc.1383T>CSubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.F206Sc.617T>CSubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.R623Rc.1869T>CSubstitution - coding silent
THSD7BENSG00000144229ENST00000272643p.Q1415Kc.4243C>ASubstitution - Missense
ENST00000356127p.G24253Ac.72758G>CSubstitution - Missense
DNAJC28ENSG00000177692ENST00000314399p.E69Vc.206A>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.I971Lc.2911A>TSubstitution - Missense
NUGGCENSG00000189233ENST00000413272p.E708Kc.2122G>ASubstitution - Missense
CEP89ENSG00000121289ENST00000305768p.Y157*c.471C>GSubstitution - Nonsense
CATSPERBENSG00000133962ENST00000256343p.L832Vc.2494C>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.L1899Lc.5697C>ASubstitution - coding silent
CACNB2ENSG00000165995ENST00000377319p.?c.525+7T>GUnknown
IGSF3ENSG00000143061ENST00000369483p.P297Pc.891G>ASubstitution - coding silent
ANO4ENSG00000151572ENST00000538618p.Q218Qc.654A>GSubstitution - coding silent
RASGRF1ENSG00000058335ENST00000419573p.?c.383+5G>TUnknown
SLC25A22ENSG00000177542ENST00000320230p.?c.742+9A>GUnknown
ZNF682ENSG00000197124ENST00000397165p.Y147Fc.440A>TSubstitution - Missense
NM_019085.1p.S154Tc.460T>ASubstitution - Missense
RSPH3ENSG00000130363ENST00000252655p.N389Nc.1167C>TSubstitution - coding silent
GCKRENSG00000084734ENST00000264717p.G492Sc.1474G>ASubstitution - Missense
AFMENSG00000079557ENST00000226355p.?c.713+1G>AUnknown
MDH1BENSG00000138400ENST00000374412p.V415Ic.1243G>ASubstitution - Missense
RRBP1ENSG00000125844ENST00000360807p.N584Sc.1751A>GSubstitution - Missense
MNS1ENSG00000138587ENST00000260453p.N49Nc.147C>TSubstitution - coding silent
FCGR2CENSG00000244682ENST00000543859p.P16Lc.47C>TSubstitution - Missense
RBM20ENSG00000203867ENST00000369519p.K773Rc.2318A>GSubstitution - Missense
OPN3ENSG00000054277ENST00000366554p.C234Yc.701G>ASubstitution - Missense
SCGB2A1ENSG00000124939ENST00000244930p.E44Kc.130G>ASubstitution - Missense
OR2AP1ENSG00000179615ENST00000321688p.S91Ic.272G>TSubstitution - Missense
EIF4G3ENSG00000075151ENST00000374937p.T413Pc.1237A>CSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.P792Pc.2376C>TSubstitution - coding silent
PADI2ENSG00000117115ENST00000375486p.V50Lc.148G>CSubstitution - Missense
HSPA1LENSG00000204390ENST00000375654p.C617Cc.1851C>TSubstitution - coding silent
PCDHB2ENSG00000112852ENST00000194155p.L663Ic.1987C>ASubstitution - Missense
PLCL2ENSG00000154822ENST00000418129p.N996Nc.2988C>TSubstitution - coding silent
TIGD6ENSG00000164296ENST00000296736p.V24Vc.72A>GSubstitution - coding silent
AGTPBP1ENSG00000135049ENST00000357081p.S111Sc.333A>GSubstitution - coding silent
SRRM2ENSG00000167978ENST00000301740p.S943Lc.2828C>TSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.R2937Rc.8811A>GSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.H3197Dc.9589C>GSubstitution - Missense
ENST00000338885p.?c.419_435+9>25Unknown
TTNENSG00000155657ENST00000359218p.G17883Ac.53648G>CSubstitution - Missense
MANFENSG00000145050ENST00000528157p.?c.223-10A>CUnknown
KRT33BENSG00000131738ENST00000251646p.S92Sc.276T>ASubstitution - coding silent
C21orf33ENSG00000160221ENST00000291577p.K214Rc.641A>GSubstitution - Missense
STC1ENSG00000159167ENST00000290271p.D180Dc.540C>TSubstitution - coding silent
NUGGCENSG00000189233ENST00000341513p.E708Kc.2122G>ASubstitution - Missense
IGSF1ENSG00000147255ENST00000361420p.G102Gc.306T>GSubstitution - coding silent
ANKRD35ENSG00000198483ENST00000355594p.P595Tc.1783C>ASubstitution - Missense
ACBD5ENSG00000107897ENST00000396271p.K369Kc.1107G>ASubstitution - coding silent
FESENSG00000182511ENST00000328850p.H216Hc.648C>TSubstitution - coding silent
HPS5ENSG00000110756ENST00000349215p.G988Gc.2964A>CSubstitution - coding silent
ENST00000341155p.Q162Hc.486G>CSubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.T386Ac.1156A>GSubstitution - Missense
CAPN14ENSG00000214711ENST00000444918p.P155fs*4c.460_461insTInsertion - Frameshift
MRASENSG00000158186ENST00000289104p.R112Rc.336C>ASubstitution - coding silent
SCD5ENSG00000145284ENST00000273908p.?c.232+8C>GUnknown
MUC4ENSG00000145113ENST00000463781p.S3445Nc.10334G>ASubstitution - Missense
TTC30AENSG00000197557ENST00000355689p.K557Rc.1670A>GSubstitution - Missense
ABRENSG00000159842ENST00000291107p.S525Sc.1575C>ASubstitution - coding silent
MAP2K3ENSG00000034152ENST00000316920p.G248Vc.743G>TSubstitution - Missense
MBNL3ENSG00000076770ENST00000370853p.P268Qc.803C>ASubstitution - Missense
GSAPENSG00000186088ENST00000257626p.N341Kc.1023C>GSubstitution - Missense
MMP15ENSG00000102996ENST00000219271p.D593Nc.1777G>ASubstitution - Missense
ENST00000265148.1p.S1116Sc.3348T>CSubstitution - coding silent
ENST00000405167p.H3309Qc.9927C>GSubstitution - Missense
ENST00000405167p.D3453Ec.10359C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.D32089Vc.96266A>TSubstitution - Missense
KRTAP10-11ENSG00000243489ENST00000334670p.Y184Cc.551A>GSubstitution - Missense
FAM210BENSG00000124098ENST00000371384p.?c.363-5C>AUnknown
CERKLENSG00000188452ENST00000410087p.H211Hc.633C>TSubstitution - coding silent
GTF2BENSG00000137947ENST00000370500p.N221Nc.663C>TSubstitution - coding silent
GALK2ENSG00000156958ENST00000327171p.L305Mc.913C>ASubstitution - Missense
SRGAP2ENSG00000163486ENST00000414007p.E101Dc.303G>TSubstitution - Missense
CHIAENSG00000134216ENST00000369740p.A320Tc.958G>ASubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.D2273fs*>134c.6817delGDeletion - Frameshift
AHNAK2ENSG00000185567ENST00000333244p.D2209Nc.6625G>ASubstitution - Missense
SFTPA1ENSG00000122852ENST00000419470p.N222Nc.666C>TSubstitution - coding silent
CCDC157ENSG00000187860ENST00000338306p.P639Sc.1915C>TSubstitution - Missense
ENST00000316490p.S2006Sc.6018C>TSubstitution - coding silent
HPRENSG00000261701ENST00000540303p.H185Pc.554A>CSubstitution - Missense
CYB5R4ENSG00000065615ENST00000369681p.I416Tc.1247T>CSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.Q531*c.1591C>TSubstitution - Nonsense
CCL4L1ENSG00000205020ENST00000444414p.?c.192-2G>AUnknown
SH3TC2ENSG00000169247ENST00000515425p.V1093Vc.3279G>TSubstitution - coding silent
SPATA31E1ENSG00000177992ENST00000325643p.Q1192Qc.3576G>ASubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.A2894Ac.8682G>ASubstitution - coding silent
DTX2ENSG00000091073ENST00000324432p.V226Ac.677T>CSubstitution - Missense
NM_001001671.1p.D63Hc.187G>CSubstitution - Missense
NFE2L3ENSG00000050344ENST00000056233p.L36_P37insLc.109_110insTGCInsertion - In frame
ENST00000425471_v68p.L106Vc.316C>GSubstitution - Missense
BMP3ENSG00000152785ENST00000282701p.R74Gc.220C>GSubstitution - Missense
EIF4G3ENSG00000075151ENST00000356916p.T533Pc.1597A>CSubstitution - Missense
EDN1ENSG00000078401ENST00000379375p.S179Lc.536C>TSubstitution - Missense
MAZENSG00000103495ENST00000219782p.?c.1108-6C>TUnknown
PTK7ENSG00000112655ENST00000230419p.Q839Qc.2517G>ASubstitution - coding silent
SLC1A4ENSG00000115902ENST00000234256p.P372Tc.1114C>ASubstitution - Missense
ZNF304ENSG00000131845ENST00000282286p.Y615Yc.1845C>TSubstitution - coding silent
SCD5ENSG00000145284ENST00000319540p.?c.232+8C>GUnknown
MUC4ENSG00000145113ENST00000463781p.T2254Ac.6760A>GSubstitution - Missense
ENST00000405167p.L2226Pc.6677T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T3284Tc.9852C>TSubstitution - coding silent
ALKENSG00000171094ENST00000389048p.G924Gc.2772T>GSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.?c.24301-34_24394-39del661Unknown
NEBENSG00000183091ENST00000397345p.?c.24301-34_24394-39del661Unknown
PLIN4ENSG00000167676ENST00000301286p.E43Ec.129G>ASubstitution - coding silent
OR10H5ENSG00000172519ENST00000308940p.T69Tc.207C>TSubstitution - coding silent
HPRENSG00000261701ENST00000540303p.H185Yc.553C>TSubstitution - Missense
HPENSG00000257017ENST00000228226p.H222Yc.664C>TSubstitution - Missense
ENST00000316490_v65p.Q2594Kc.7780C>ASubstitution - Missense
ENST00000309900p.Q225Kc.673C>ASubstitution - Missense
ENST00000316490p.R3676Wc.11026C>TSubstitution - Missense
XKR6ENSG00000171044ENST00000416569p.T451Tc.1353C>TSubstitution - coding silent
PIPENSG00000159763ENST00000291009p.S74Sc.222C>TSubstitution - coding silent
GTF2H4ENSG00000213780ENST00000259895p.G305Sc.913G>ASubstitution - Missense
ENST00000319850p.Q131*c.391C>TSubstitution - Nonsense
KIR2DL3ENSG00000243772ENST00000434419p.S2Lc.5C>TSubstitution - Missense
ENST00000520965_v71p.?c.160-5T>GUnknown
CEP89ENSG00000121289ENST00000590597p.Y157*c.471C>GSubstitution - Nonsense
XM_496125.1p.R1299Cc.3895C>TSubstitution - Missense
CLEC16AENSG00000038532ENST00000409552p.A433Tc.1297G>ASubstitution - Missense
DUOX1ENSG00000137857ENST00000561166p.R617Hc.1850G>ASubstitution - Missense
C15orf52ENSG00000188549ENST00000397536p.?c.390-3C>TUnknown
SNRPNENSG00000128739ENST00000444203p.G223Gc.669A>GSubstitution - coding silent
ENST00000256343_v70p.L832Vc.2494C>GSubstitution - Missense
ENST00000295713_v70p.E155*c.463G>TSubstitution - Nonsense
SMARCC2ENSG00000139613ENST00000394023p.A1013Tc.3037G>ASubstitution - Missense
MLXIPENSG00000175727ENST00000377037p.?c.97-10C>AUnknown
KRTAP5-10ENSG00000204572ENST00000376536p.S26Sc.78C>TSubstitution - coding silent
OR52D1ENSG00000181609ENST00000322641p.Y181Nc.541T>ASubstitution - Missense
OR51I2ENSG00000187918ENST00000341449p.R151Qc.452G>ASubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.L13Fc.37C>TSubstitution - Missense
ACBD5ENSG00000107897ENST00000375888p.K378Kc.1134G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
HLA-DRB1ENSG00000196126ENST00000360004p.G245Gc.735G>TSubstitution - coding silent
SGTBENSG00000197860ENST00000381007p.A248Gc.743C>GSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.A2216Ac.6648C>TSubstitution - coding silent
AHRRENSG00000063438ENST00000316418p.P479Pc.1437C>TSubstitution - coding silent
CDHR2ENSG00000074276ENST00000261944p.N300Nc.900C>TSubstitution - coding silent
ENST00000345702p.S180_N181insSc.541_542insGCAInsertion - In frame
EFCAB9ENSG00000214360ENST00000398186p.?c.137-7T>AUnknown
ADAM29ENSG00000168594ENST00000359240p.R804Sc.2412G>CSubstitution - Missense
ENSG00000215428ENST00000277491p.R272Hc.815G>ASubstitution - Missense
L3HYPDHENSG00000126790ENST00000247194p.V23Vc.69G>TSubstitution - coding silent
ASPMENSG00000066279ENST00000367409p.N619Nc.1857T>CSubstitution - coding silent
MUTYHENSG00000132781ENST00000372098p.A305Ec.914C>ASubstitution - Missense
PVRL4ENSG00000143217ENST00000368012p.G56Rc.166G>ASubstitution - Missense
SLC25A3ENSG00000075415ENST00000228318p.K357Qc.1069A>CSubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.D588Hc.1762G>CSubstitution - Missense
FGF13ENSG00000129682ENST00000455663p.P53Pc.159C>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
JARID2ENSG00000008083ENST00000541660p.T905Tc.2715T>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.A5576Tc.16726G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.A5259Tc.15775G>ASubstitution - Missense
MICAL1ENSG00000135596ENST00000368952p.A1008Ac.3024C>TSubstitution - coding silent
SCD5ENSG00000145284ENST00000282709p.?c.232+8C>GUnknown
LPHN3ENSG00000150471ENST00000507625p.I1211Nc.3632T>ASubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.T386Kc.1157C>ASubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.T385Tc.1155T>GSubstitution - coding silent
OVCH2ENSG00000183378ENST00000454689p.?c.199-8C>TUnknown
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQQQQc.884_885ins24Insertion - In frame
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQQQQc.863_864ins24Insertion - In frame
ENST00000319748p.M39fs*6c.116delTDeletion - Frameshift
TTC29ENSG00000137473ENST00000513335p.T501Tc.1503T>GSubstitution - coding silent
MDH1BENSG00000138400ENST00000392214p.V202Ic.604G>ASubstitution - Missense
RFX8ENSG00000196460ENST00000376826p.T293Tc.879G>ASubstitution - coding silent
ENST00000405167p.T2756Tc.8268C>TSubstitution - coding silent
LGI2ENSG00000153012ENST00000382114p.H223Hc.669T>CSubstitution - coding silent
KLKB1ENSG00000164344ENST00000264690p.C227Cc.681T>CSubstitution - coding silent
TTC29ENSG00000137473ENST00000325106p.T475Tc.1425T>GSubstitution - coding silent
NM_001184p.M593Tc.1778T>CSubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.Q1384Kc.4150C>ASubstitution - Missense
FBXL19ENSG00000099364ENST00000380310p.S324Tc.970T>ASubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.R2938Rc.8812A>CSubstitution - coding silent
NM_014959.1p.A274Ac.822T>CSubstitution - coding silent
PLIN5ENSG00000214456ENST00000381848p.M435Rc.1304T>GSubstitution - Missense
ZNF714ENSG00000160352ENST00000291770p.S56Fc.167C>TSubstitution - Missense
ENST00000344519_v68p.K339Kc.1017A>GSubstitution - coding silent
ZNF66ENSG00000160229ENST00000425625p.K385Kc.1155A>GSubstitution - coding silent
ENST00000344519_v61p.T384Ic.1151C>TSubstitution - Missense
PBX4ENSG00000105717ENST00000251203p.R248Rc.744G>ASubstitution - coding silent
NR2C2APENSG00000184162ENST00000331552p.D119Dc.357T>CSubstitution - coding silent
KIAA1683ENSG00000130518ENST00000392413p.T108Tc.324G>ASubstitution - coding silent
CYLC1ENSG00000183035ENST00000329312p.R623Rc.1869T>CSubstitution - coding silent
GDPD2ENSG00000130055ENST00000374382p.D37Nc.109G>ASubstitution - Missense
SLC24A2ENSG00000155886ENST00000341998p.T425Ic.1274C>TSubstitution - Missense
FREM1ENSG00000164946ENST00000380894p.?c.1747-4T>CUnknown
ABCA2ENSG00000107331ENST00000341511p.D585Dc.1755C>TSubstitution - coding silent
POLR2JENSG00000005075ENST00000292614p.F105Fc.315T>CSubstitution - coding silent
AGGF1ENSG00000164252ENST00000312916p.T69Tc.207G>ASubstitution - coding silent
CPT1BENSG00000205560ENST00000395650p.T613Ic.1838C>TSubstitution - Missense
HEG1ENSG00000173706ENST00000311127p.Q774Pc.2321A>CSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.P1235Pc.3705G>ASubstitution - coding silent
CHPFENSG00000123989ENST00000243776p.R241fs*65c.722delGDeletion - Frameshift
ENST00000381114p.A2622Ac.7866T>GSubstitution - coding silent
SEMA3DENSG00000153993ENST00000284136p.G317Ec.950G>ASubstitution - Missense
PCDHGA2ENSG00000081853ENST00000394576p.P565Pc.1695T>CSubstitution - coding silent
PCDHGA2ENSG00000081853ENST00000394576p.F567Lc.1699T>CSubstitution - Missense
ENST00000305759p.F567Lc.1699T>CSubstitution - Missense
DDX26BENSG00000165359ENST00000370752p.?c.907-10T>AUnknown
NM_182540.2p.?c.907-10T>AUnknown
SPATA31E1ENSG00000177992ENST00000325643p.E623Kc.1867G>ASubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.M795Vc.2383A>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.P683Pc.2049C>TSubstitution - coding silent
TIGD6ENSG00000164296ENST00000296736p.I241Mc.723T>GSubstitution - Missense
FNDC3BENSG00000075420ENST00000336824p.P724Pc.2172A>GSubstitution - coding silent
SYNE4ENSG00000181392ENST00000324444p.A376Vc.1127C>TSubstitution - Missense
PIP5K1CENSG00000186111ENST00000335312p.?c.1211+9C>TUnknown
ZNF594ENSG00000180626ENST00000399604p.H345Rc.1034A>GSubstitution - Missense
GJC1ENSG00000182963ENST00000426548p.S374Sc.1122C>TSubstitution - coding silent
MDN1ENSG00000112159ENST00000369393p.T785Pc.2353A>CSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.P2443Lc.7328C>TSubstitution - Missense
CYLC2ENSG00000155833ENST00000374798p.A335Ec.1004C>ASubstitution - Missense
CD109ENSG00000156535ENST00000287097p.Q424Hc.1272A>CSubstitution - Missense
AK9ENSG00000155085ENST00000285397p.D151Dc.453C>TSubstitution - coding silent
COL5A3ENSG00000080573ENST00000264828p.D191Dc.573C>TSubstitution - coding silent
ATP9BENSG00000166377ENST00000307671p.G1025Sc.3073G>ASubstitution - Missense
RFESDENSG00000175449ENST00000311364p.D73Ec.219T>ASubstitution - Missense
ASTN2ENSG00000148219ENST00000417725p.P61Lc.181C>TSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.V906Mc.2716G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.V895Mc.2683G>ASubstitution - Missense
TWISTNBENSG00000105849ENST00000222567p.M256Vc.766A>GSubstitution - Missense
VIPR2ENSG00000106018ENST00000262178p.T101Tc.303G>ASubstitution - coding silent
PTPRN2ENSG00000155093ENST00000404321p.?c.2413+3A>GUnknown
NM_002847.2p.?c.2344+3A>GUnknown
RBM33ENSG00000184863ENST00000401878p.Q593_Q596delQPQQc.1776_1787del12Deletion - In frame
KMT2CENSG00000055609ENST00000355193p.?c.2976+1G>CUnknown
KMT2CENSG00000055609ENST00000262189p.?c.2976+1G>CUnknown
LPHN3ENSG00000150471ENST00000514591p.I1152Nc.3455T>ASubstitution - Missense
SRP72ENSG00000174780ENST00000342756p.Q333Qc.999A>GSubstitution - coding silent
ENST00000405167p.P2342Lc.7025C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2334Ac.7000A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D2333Hc.6997G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D2405Ec.7215C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2772Tc.8316C>TSubstitution - coding silent
ENST00000405167p.T2772Tc.8316C>TSubstitution - coding silent
ENST00000405167p.A2766Tc.8296G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2756Tc.8268C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2795Sc.8383A>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D2949Gc.8846A>GSubstitution - Missense
ENST00000405167p.A2878Tc.8632G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H3309Qc.9927C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T3278Ac.9832A>GSubstitution - Missense
ENST00000405167p.T3278Ac.9832A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3445Gc.10333A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3440Ac.10318C>GSubstitution - Missense
ENST00000405167p.D3421Ec.10263C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H3453Qc.10359C>GSubstitution - Missense
ENST00000405167p.S3445Nc.10334G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H3997Dc.11989C>GSubstitution - Missense
ENST00000405167p.Q3997Ec.11989C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T4228Nc.12683C>ASubstitution - Missense
VITENSG00000205221ENST00000379242p.K608Rc.1823A>GSubstitution - Missense
CAPN14ENSG00000214711ENST00000403897p.P155fs*4c.460_461insTInsertion - Frameshift
ALKENSG00000171094ENST00000389048p.P1398Lc.4193C>TSubstitution - Missense
POTEDENSG00000166351ENST00000299443p.S46Sc.138T>CSubstitution - coding silent
TPTEENSG00000166157ENST00000361285p.R220_R221>Kc.659_662GAAG>AComplex - deletion inframe
TPTEENSG00000166157ENST00000298232p.R202_R203>Kc.605_608GAAG>AComplex - deletion inframe
LILRA6ENSG00000244482ENST00000396365p.Y400Fc.1199A>TSubstitution - Missense
ZNF816ENSG00000180257ENST00000357666p.E366Ec.1098G>ASubstitution - coding silent
ZNF480ENSG00000198464ENST00000468240p.?c.199+7A>TUnknown
ZNF480ENSG00000198464ENST00000335090p.?c.142+7A>TUnknown
ZNF276ENSG00000158805ENST00000443381p.D363Ec.1089C>ASubstitution - Missense
ZNF276ENSG00000158805ENST00000289816p.D288Ec.864C>ASubstitution - Missense
NMRAL1ENSG00000153406ENST00000283429p.A225Gc.674C>GSubstitution - Missense
SLC5A2ENSG00000140675ENST00000330498p.V524Vc.1572G>CSubstitution - coding silent
TFGENSG00000114354ENST00000490574p.A382Ac.1146G>ASubstitution - coding silent
NIF3L1ENSG00000196290ENST00000409020p.E310Ec.930G>ASubstitution - coding silent
CARD11ENSG00000198286ENST00000396946p.H710Hc.2130C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.A5576Tc.16726G>ASubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.G1371Gc.4113A>TSubstitution - coding silent
OR2V1ENSG00000185372ENST00000329365p.L28Pc.83T>CSubstitution - Missense
ENSG00000228259ENST00000425471p.L106Vc.316C>GSubstitution - Missense
TNIP3ENSG00000050730ENST00000057513p.R104Rc.310A>CSubstitution - coding silent
ANK2ENSG00000145362ENST00000357077p.F2011Fc.6033T>CSubstitution - coding silent
GPR149ENSG00000174948ENST00000389740p.T479Kc.1436C>ASubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.E1114Qc.3340G>CSubstitution - Missense
E2F4ENSG00000205250ENST00000379378p.S317_S319delSSSc.918_926delCAGCAGCAGDeletion - In frame
RGPD3ENSG00000153165ENST00000409886p.E102*c.304G>TSubstitution - Nonsense
RGPD3ENSG00000153165ENST00000409886p.E102*c.304G>TSubstitution - Nonsense
RFX8ENSG00000196460ENST00000428343p.T180Tc.540G>ASubstitution - coding silent
LLGL2ENSG00000073350ENST00000578363p.A282Ac.846G>ASubstitution - coding silent
ENST00000449698p.E23Qc.67G>CSubstitution - Missense
THAP9ENSG00000168152ENST00000302236p.K756Ec.2266A>GSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.S1116Sc.3348T>CSubstitution - coding silent
OR5H15ENSG00000233412ENST00000356526p.H54Hc.162C>TSubstitution - coding silent
OR5H15ENSG00000233412ENST00000356526p.N83Ic.248A>TSubstitution - Missense
OR5H15ENSG00000233412ENST00000356526p.N83Nc.249T>CSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.V1017Ac.3050T>CSubstitution - Missense
ENST00000405167p.P1510Tc.4528C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1566Ac.4696A>GSubstitution - Missense
ENST00000405167p.T1566Ac.4696A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1510Tc.4528C>ASubstitution - Missense
ENST00000405167p.P1680Ac.5038C>GSubstitution - Missense
FYBENSG00000082074ENST00000512982p.T380Sc.1139C>GSubstitution - Missense
LTKENSG00000062524ENST00000263800p.V737Ac.2210T>CSubstitution - Missense
LTKENSG00000062524ENST00000355166p.V676Ac.2027T>CSubstitution - Missense
C15orf52ENSG00000188549ENST00000559313p.?c.1020-3C>TUnknown
DEGS2ENSG00000168350ENST00000305631p.G136Gc.408C>TSubstitution - coding silent
ENST00000370343p.E173Ec.519A>GSubstitution - coding silent
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQQQQc.884_885ins24Insertion - In frame
CATSPERBENSG00000133962ENST00000256343p.P866Lc.2597C>TSubstitution - Missense
WDHD1ENSG00000198554ENST00000360586p.?c.77+8T>CUnknown
DNAJB4ENSG00000162616ENST00000370763p.Q82Rc.245A>GSubstitution - Missense
USP1ENSG00000162607ENST00000371146p.R255Kc.764G>ASubstitution - Missense
FAM114A1ENSG00000197712ENST00000358869p.D481fs*16c.1441_1442insGInsertion - Frameshift
PTTG2ENSG00000250254ENST00000504686p.H185Lc.554A>TSubstitution - Missense
CHAF1BENSG00000159259ENST00000314103p.T531Mc.1592C>TSubstitution - Missense
IFNAR1ENSG00000142166ENST00000270139p.R103Hc.308G>ASubstitution - Missense
HUNKENSG00000142149ENST00000270112p.K444Kc.1332A>GSubstitution - coding silent
KRTAP19-8ENSG00000206102ENST00000382822p.G56*c.166G>TSubstitution - Nonsense
BACH1ENSG00000156273ENST00000399921p.D26Dc.78C>TSubstitution - coding silent
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
SLC6A2ENSG00000103546ENST00000219833p.R26Rc.78G>TSubstitution - coding silent
SLC6A2ENSG00000103546ENST00000379906p.R26Rc.78G>TSubstitution - coding silent
NM_032217.3p.L1499Lc.4497A>GSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.I1720Lc.5158A>TSubstitution - Missense
ENST00000420871_v68p.I971Lc.2911A>TSubstitution - Missense
TMED1ENSG00000099203ENST00000214869p.T214Tc.642G>ASubstitution - coding silent
ENST00000005905p.L1416Lc.4246C>TSubstitution - coding silent
LGALS9ENSG00000168961ENST00000395473p.T199Sc.595A>TSubstitution - Missense
MAP2K3ENSG00000034152ENST00000361818p.G215Vc.644G>TSubstitution - Missense
FBXO16ENSG00000214050ENST00000380254p.?c.508-4C>GUnknown
SLC39A14ENSG00000104635ENST00000381237p.L5Lc.15G>CSubstitution - coding silent
DCP1AENSG00000162290ENST00000294241p.T195Ic.584C>TSubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.S1511Sc.4533G>ASubstitution - coding silent
TRPM3ENSG00000083067ENST00000377105p.S1498Sc.4494G>ASubstitution - coding silent
FOXD4L5ENSG00000204779ENST00000377420p.R15Hc.44G>ASubstitution - Missense
HSPA12BENSG00000132622ENST00000254963p.A405Tc.1213G>ASubstitution - Missense
GZMMENSG00000197540ENST00000264553p.R217Wc.649C>TSubstitution - Missense
C20orf112ENSG00000197183ENST00000326071p.D153Nc.457G>ASubstitution - Missense
ENST00000456956p.D213Nc.637G>ASubstitution - Missense
ENST00000222301p.D25Dc.75C>TSubstitution - coding silent
ENSG00000178404ENST00000322630p.T389fs*56c.1164_1165insGInsertion - Frameshift
TTNENSG00000155657ENST00000342992p.V9230Vc.27690G>ASubstitution - coding silent
ENST00000356127p.V9230Vc.27690G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.G24255Ac.72764G>CSubstitution - Missense
NM_003319p.G17758Ac.53273G>CSubstitution - Missense
ENST00000356127p.D32087Vc.96260A>TSubstitution - Missense
RANBP1ENSG00000099901ENST00000430524p.H111fs*57c.327_328insAInsertion - Frameshift
TNNI3ENSG00000129991ENST00000344887p.N121Nc.363C>TSubstitution - coding silent
KIR2DL4ENSG00000189013ENST00000345540p.A305Vc.914C>TSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.A360Vc.1079C>TSubstitution - Missense
ABRENSG00000159842ENST00000302538p.S562Sc.1686C>ASubstitution - coding silent
TNFRSF11AENSG00000141655ENST00000269485p.C409Cc.1227C>TSubstitution - coding silent
ENSG00000182319ENST00000330777p.G1390Rc.4168G>ASubstitution - Missense
SU_SgK223p.G1392Rc.4174G>ASubstitution - Missense
CCDC132ENSG00000004766ENST00000305866p.V391Ic.1171G>ASubstitution - Missense
ZC3HAV1ENSG00000105939ENST00000242351p.G206Rc.616G>ASubstitution - Missense
BTN3A1ENSG00000026950ENST00000289361p.V411Vc.1233G>ASubstitution - coding silent
PCBP4ENSG00000090097ENST00000461554p.?c.106-10C>TUnknown
MST1ENSG00000173531ENST00000449682p.Q324*c.970C>TSubstitution - Nonsense
MUC4ENSG00000145113ENST00000463781p.A2112Sc.6334G>TSubstitution - Missense
ENST00000405167p.A2112Sc.6334G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D2253Hc.6757G>CSubstitution - Missense
ENST00000405167p.D2253Hc.6757G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L2226Pc.6677T>CSubstitution - Missense
ENST00000405167p.D2333Hc.6997G>CSubstitution - Missense
NTAN1ENSG00000157045ENST00000287706p.?c.639+9C>AUnknown
NBPF10ENSG00000163386ENST00000342960p.?c.10418+5C>TUnknown
PIFOENSG00000173947ENST00000369738p.A168fs*19c.498delADeletion - Frameshift
CHIAENSG00000134216ENST00000430615p.A212Tc.634G>ASubstitution - Missense
KCNA3ENSG00000177272ENST00000369769p.A415Ac.1245G>ASubstitution - coding silent
METTL15ENSG00000169519ENST00000407364p.H279Rc.836A>GSubstitution - Missense
NM_005933.1p.V2896Vc.8688A>GSubstitution - coding silent
KCNJ11ENSG00000187486ENST00000339994p.Q299Qc.897G>ASubstitution - coding silent
PLEKHA7ENSG00000166689ENST00000355661p.R516Wc.1546C>TSubstitution - Missense
SPENENSG00000065526ENST00000375759p.T2759Tc.8277G>ASubstitution - coding silent
ENST00000543859_v68p.P16Lc.47C>TSubstitution - Missense
SLC7A1ENSG00000139514ENST00000380752p.S305Sc.915G>ASubstitution - coding silent
ALDH1L2ENSG00000136010ENST00000258494p.L204Hc.611T>ASubstitution - Missense
SCYL2ENSG00000136021ENST00000360820p.?c.1095+9T>CUnknown
PIWIL4ENSG00000134627ENST00000299001p.W649Gc.1945T>GSubstitution - Missense
MGEA5ENSG00000198408ENST00000361464p.F212Fc.636C>TSubstitution - coding silent
MGEA5ENSG00000198408ENST00000370094p.F212Fc.636C>TSubstitution - coding silent
OR2L5ENSG00000197454ENST00000355281p.T75Mc.224C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.E2007*c.6019G>TSubstitution - Nonsense
PDE4DIPENSG00000178104ENST00000313382p.E1901*c.5701G>TSubstitution - Nonsense
PDE4DIPENSG00000178104ENST00000369356p.L2005Lc.6015C>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.L2005Lc.6015C>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.L2005Hc.6014T>ASubstitution - Missense
DHX37ENSG00000150990ENST00000308736p.?c.1591-7G>AUnknown
HCAR3ENSG00000255398ENST00000528880p.R187Qc.560G>ASubstitution - Missense
PNPLA2ENSG00000177666ENST00000336615p.?c.420+6G>TUnknown
SRGAP2ENSG00000163486ENST00000295713p.E155*c.463G>TSubstitution - Nonsense
DENND4BENSG00000198837ENST00000361217p.N1170Nc.3510C>TSubstitution - coding silent
ENSG00000206044ENST00000382678p.Y123Yc.369C>TSubstitution - coding silent
SOS2ENSG00000100485ENST00000216373p.?c.2384+5A>GUnknown
SOS2ENSG00000100485ENST00000216373p.?c.2384+5A>GUnknown
AKAP6ENSG00000151320ENST00000280979p.E945Ac.2834A>CSubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.R971Hc.2912G>ASubstitution - Missense
TBX19ENSG00000143178ENST00000367821p.S98Sc.294T>CSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.S2539Tc.7615T>ASubstitution - Missense
THEM5ENSG00000196407ENST00000453881p.?c.508+5delcUnknown
C1orf137ENSG00000203864ENST00000369482p.W32Rc.94T>CSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.P297Pc.891G>ASubstitution - coding silent
MLXIPENSG00000175727ENST00000319080p.P439Pc.1317C>ASubstitution - coding silent
SETD1BENSG00000139718ENST00000542440p.R1627Qc.4880G>ASubstitution - Missense
SETD1BENSG00000139718ENST00000267197p.R508Qc.1523G>ASubstitution - Missense
CAMKK2ENSG00000110931ENST00000324774p.C159Cc.477T>CSubstitution - coding silent
CAMKK2ENSG00000110931ENST00000392473p.C159Cc.477T>CSubstitution - coding silent
TAOK3ENSG00000135090ENST00000419821p.?c.1696-10T>CUnknown
TAOK3ENSG00000135090ENST00000419821p.?c.1696-10T>CUnknown
PCNXL3ENSG00000197136ENST00000355703p.I175Fc.523A>TSubstitution - Missense
ENST00000309024p.I56Fc.166A>TSubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.T1463Tc.4389G>ASubstitution - coding silent
ITGB4ENSG00000132470ENST00000339591p.T1393Tc.4179G>ASubstitution - coding silent
LLGL1ENSG00000131899ENST00000316843p.H699Qc.2097C>GSubstitution - Missense
WDR81ENSG00000167716ENST00000409644p.R1765Cc.5293C>TSubstitution - Missense
WDR81ENSG00000167716ENST00000437219p.R562Cc.1684C>TSubstitution - Missense
MID2ENSG00000080561ENST00000262843p.M643Ic.1929G>TSubstitution - Missense
MID1ENSG00000101871ENST00000453318p.G549Ec.1646G>ASubstitution - Missense
IGSF1ENSG00000147255ENST00000370901p.G102Gc.306T>GSubstitution - coding silent
TLR7ENSG00000196664ENST00000380659p.S359Sc.1077T>CSubstitution - coding silent
CAPN6ENSG00000077274ENST00000324068p.M368Rc.1103T>GSubstitution - Missense
MDH1BENSG00000138400ENST00000374412p.R270Kc.809G>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.D235Vc.704A>TSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.N1017Sc.3050A>GSubstitution - Missense
CRHR1ENSG00000120088ENST00000314537p.Q308Rc.923A>GSubstitution - Missense
ENST00000355290p.F263Lc.789T>GSubstitution - Missense
NPIPB15ENSG00000196436ENST00000429990p.F324Lc.972T>GSubstitution - Missense
FYBENSG00000082074ENST00000505428p.T380Sc.1139C>GSubstitution - Missense
IARS2ENSG00000067704ENST00000302637p.P28Lc.83C>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.H1046Qc.3138T>ASubstitution - Missense
SSH1ENSG00000084112ENST00000326470p.Y684Fc.2051A>TSubstitution - Missense
LACC1ENSG00000179630ENST00000325686p.A71Vc.212C>TSubstitution - Missense
TSC22D1ENSG00000102804ENST00000458659p.P579Rc.1736C>GSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.?c.252+10G>AUnknown
SMARCC2ENSG00000139613ENST00000267064p.A982Tc.2944G>ASubstitution - Missense
SMARCC2ENSG00000139613ENST00000267064p.A982Tc.2944G>ASubstitution - Missense
GPR84ENSG00000139572ENST00000267015p.R218Qc.653G>ASubstitution - Missense
NPFFENSG00000139574ENST00000267017p.D37Hc.109G>CSubstitution - Missense
CCDC157ENSG00000187860ENST00000405659p.P690Sc.2068C>TSubstitution - Missense
DUOX2ENSG00000140279ENST00000389039p.F1495Fc.4485C>TSubstitution - coding silent
KRTAP10-11ENSG00000243489ENST00000334670p.S183Pc.547T>CSubstitution - Missense
SLC12A3ENSG00000070915ENST00000438926p.L689Fc.2065C>TSubstitution - Missense
MMP3ENSG00000149968ENST00000299855p.S223Sc.669C>TSubstitution - coding silent
LTBP2ENSG00000119681ENST00000261978p.G1106Rc.3316G>ASubstitution - Missense
COL9A3ENSG00000092758ENST00000343916p.G268Gc.804C>TSubstitution - coding silent
LLGL2ENSG00000073350ENST00000392550p.A282Ac.846G>ASubstitution - coding silent
DYRK1BENSG00000105204ENST00000348817p.R344Cc.1030C>TSubstitution - Missense
TBRG4ENSG00000136270ENST00000258770p.R8Qc.23G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.V5037Ic.15109G>ASubstitution - Missense
ENST00000349637p.V4992Ic.14974G>ASubstitution - Missense
ENST00000446248_v68p.L78Lc.234G>TSubstitution - coding silent
KRTAP10-11ENSG00000243489ENST00000334670p.C189Cc.567C>TSubstitution - coding silent
ADAM29ENSG00000168594ENST00000359240p.Q803*c.2407C>TSubstitution - Nonsense
SHANK1ENSG00000161681ENST00000293441p.T287Tc.861G>ASubstitution - coding silent
CAMSAP3ENSG00000076826ENST00000160298p.L78Lc.234G>TSubstitution - coding silent
ENST00000344519_v61p.T385Ac.1153A>GSubstitution - Missense
ENST00000316490_v65p.S2054Sc.6162C>TSubstitution - coding silent
CYP2C19ENSG00000165841ENST00000371321p.R442Hc.1325G>ASubstitution - Missense
TRPM8ENSG00000144481ENST00000324695p.E274Kc.820G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.I1152Nc.3455T>ASubstitution - Missense
XM_042978.4p.V67Ic.199G>ASubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.S858_E859insSc.2568_2569insTCCInsertion - In frame
KIF26BENSG00000162849ENST00000407071p.S858_E859insSc.2568_2569insTCCInsertion - In frame
SLC10A2ENSG00000125255ENST00000245312p.G60Wc.178G>TSubstitution - Missense
SLC25A3ENSG00000075415ENST00000551917p.K357Qc.1069A>CSubstitution - Missense
SLC25A3ENSG00000075415ENST00000188376p.K356Qc.1066A>CSubstitution - Missense
CCDC41ENSG00000173588ENST00000339839p.A520Ac.1560G>ASubstitution - coding silent
OR56B3PENSG00000180913ENST00000316517p.L154Lc.462G>ASubstitution - coding silent
LRP10ENSG00000197324ENST00000359591p.M483Lc.1447A>CSubstitution - Missense
ARAP1ENSG00000186635ENST00000393609p.?c.879-5G>AUnknown
TMC3ENSG00000188869ENST00000359440p.T355Tc.1065A>TSubstitution - coding silent
NM_003076.3p.T150Sc.449C>GSubstitution - Missense
ALKBH3ENSG00000166199ENST00000302708p.P268Lc.803C>TSubstitution - Missense
PKP3ENSG00000184363ENST00000331563p.H372Hc.1116C>TSubstitution - coding silent
PRDM10ENSG00000170325ENST00000360871p.S860Fc.2579C>TSubstitution - Missense
TBRG1ENSG00000154144ENST00000441174p.Y234_T235insIYc.703_704insTATATAInsertion - In frame
TBRG1ENSG00000154144ENST00000284290p.Y83_T84insIYc.250_251insTATATAInsertion - In frame
SORBS1ENSG00000095637ENST00000371228p.A17Ac.51G>ASubstitution - coding silent
NOC3LENSG00000173145ENST00000371361p.R112delRc.334_336delAGADeletion - In frame
FRA10AC1ENSG00000148690ENST00000359204p.N63Ic.188A>TSubstitution - Missense
FRA10AC1ENSG00000148690ENST00000371430p.N63Ic.188A>TSubstitution - Missense
KIF20BENSG00000138182ENST00000260753p.H1036Rc.3107A>GSubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.H1106Rc.3317A>GSubstitution - Missense
SYNPO2LENSG00000166317ENST00000394810p.G161Gc.483C>TSubstitution - coding silent
ENSG00000188897ENST00000344649p.T537Mc.1610C>TSubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.A451Tc.1351G>ASubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.A829Ac.2487C>TSubstitution - coding silent
SLC8A3ENSG00000100678ENST00000357887p.A827Ac.2481C>TSubstitution - coding silent
ACBD5ENSG00000107897ENST00000375905p.K334Kc.1002G>ASubstitution - coding silent
GP2ENSG00000169347ENST00000381362p.N317Nc.951C>TSubstitution - coding silent


COSMIC

2 mutations reported
2 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.0?c.1_471del471Whole gene deletion11733961
CDKN2AENSG00000147889ENST00000304494p.?c.1_150del150Unknown7478544