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COR-L279 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

548 mutations reported
206 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
LTFENSG00000012223ENST00000231751p.C646Yc.1937G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.A2403fs*7c.7207delGDeletion - Frameshift
INPP5EENSG00000148384ENST00000371712p.L323Pc.968T>CSubstitution - Missense
ENST00000397266p.G9Rc.25G>CSubstitution - Missense
ENST00000328843_v70p.R1546Qc.4637G>ASubstitution - Missense
PRR4ENSG00000111215ENST00000228811p.P108Pc.324T>GSubstitution - coding silent
FLRT1ENSG00000126500ENST00000246841p.P197Pc.591G>ASubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.H738Yc.2212C>TSubstitution - Missense
IPO13ENSG00000117408ENST00000372343p.G956Vc.2867G>TSubstitution - Missense
ELP4ENSG00000109911ENST00000395934p.A197Sc.589G>TSubstitution - Missense
BRMS1LENSG00000100916ENST00000216807p.T289Kc.866C>ASubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.R510Sc.1528C>ASubstitution - Missense
USP24ENSG00000162402ENST00000294383p.?c.1554+4C>TUnknown
SMOENSG00000128602ENST00000249373p.G497Vc.1490G>TSubstitution - Missense
TCEB3CENSG00000183791ENST00000330682p.P365Sc.1093C>TSubstitution - Missense
HECW2ENSG00000138411ENST00000260983p.A1537Ac.4611G>ASubstitution - coding silent
ZNF324BENSG00000249471ENST00000391696p.T506Tc.1518C>TSubstitution - coding silent
ZNF551ENSG00000204519ENST00000282296p.I100Vc.298A>GSubstitution - Missense
CLDN4ENSG00000189143ENST00000340958p.L151Qc.452T>ASubstitution - Missense
UNC45BENSG00000141161ENST00000394570p.D364Gc.1091A>GSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.R571Wc.1711C>TSubstitution - Missense
TPSB2ENSG00000197253ENST00000430512p.I266Mc.798C>GSubstitution - Missense
TTLL9ENSG00000131044ENST00000375922p.R69Qc.206G>ASubstitution - Missense
ENST00000304751p.K60Kc.180G>ASubstitution - coding silent
TDRKHENSG00000182134ENST00000368822p.T247Sc.740C>GSubstitution - Missense
SYTL2ENSG00000137501ENST00000354566p.N1053Nc.3159C>TSubstitution - coding silent
ENST00000545858p.?c.97-4_105delacagTACTCCCCTUnknown
AATKENSG00000181409ENST00000326724p.E1373Ec.4119G>ASubstitution - coding silent
ITIH6ENSG00000102313ENST00000218436p.A110Ac.330C>ASubstitution - coding silent
USP6ENSG00000129204ENST00000250066p.?c.3518-3C>AUnknown
STAT3ENSG00000168610ENST00000264657p.H410Hc.1230C>TSubstitution - coding silent
AK8ENSG00000165695ENST00000298545p.T215Tc.645G>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
ST6GAL1ENSG00000073849ENST00000169298p.I330Vc.988A>GSubstitution - Missense
NTPCRENSG00000135778ENST00000366627p.T132Tc.396G>ASubstitution - coding silent
MED16ENSG00000175221ENST00000312090p.S326Sc.978C>TSubstitution - coding silent
MYLK4ENSG00000145949ENST00000274643p.W58*c.173G>ASubstitution - Nonsense
SU_SgK085p.W58*c.173G>ASubstitution - Nonsense
KCNIP3ENSG00000115041ENST00000295225p.N136Nc.408C>TSubstitution - coding silent
SZT2ENSG00000198198ENST00000562955p.H1580Yc.4738C>TSubstitution - Missense
ASUNENSG00000064102ENST00000261191p.?c.1945+9C>AUnknown
XM_046751.7p.R644Rc.1932A>GSubstitution - coding silent
OVCH1ENSG00000187950ENST00000318184p.L160Fc.478C>TSubstitution - Missense
CPNE8ENSG00000139117ENST00000331366p.P180Pc.540T>CSubstitution - coding silent
LRRC7ENSG00000033122ENST00000035383p.H1176Qc.3528C>ASubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.L1143Lc.3429G>ASubstitution - coding silent
KIAA0020ENSG00000080608ENST00000397885p.A507Ec.1520C>ASubstitution - Missense
ENST00000570743p.L603fs*63c.1802_1803insCInsertion - Frameshift
SLC26A1ENSG00000145217ENST00000361661p.G134Rc.400G>ASubstitution - Missense
SLC26A1ENSG00000145217ENST00000398520p.G134Rc.400G>ASubstitution - Missense
GMPRENSG00000137198ENST00000259727p.S103*c.308C>ASubstitution - Nonsense
TBRG4ENSG00000136270ENST00000258770p.V227Ac.680T>CSubstitution - Missense
AKAP8ENSG00000105127ENST00000269701p.P82Ac.244C>GSubstitution - Missense
ENST00000318560_v70p.?c.550-4T>GUnknown
ABL1ENSG00000097007ENST00000318560p.?c.550-4T>GUnknown
ADAMTS2ENSG00000087116ENST00000251582p.D1051Nc.3151G>ASubstitution - Missense
GNALENSG00000141404ENST00000334049p.E378Kc.1132G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.I4764Ic.14292C>TSubstitution - coding silent
EDRF1ENSG00000107938ENST00000337623p.G628Rc.1882G>CSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.N1561Nc.4683C>TSubstitution - coding silent
LRRK1ENSG00000154237ENST00000284395p.I840Ic.2520C>TSubstitution - coding silent
SPECC1ENSG00000128487ENST00000395527p.S691Cc.2071A>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.L1782Fc.5344C>TSubstitution - Missense
CYP51A1ENSG00000001630ENST00000003100p.M24Kc.71T>ASubstitution - Missense
PCNTENSG00000160299ENST00000359568p.R2855Qc.8564G>ASubstitution - Missense
NM_152536.2p.C121Yc.362G>ASubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.?c.832-8G>AUnknown
C4orf3ENSG00000164096ENST00000399075p.T98Ic.293C>TSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.?c.8219-3C>TUnknown
SNX13ENSG00000071189ENST00000428135p.R170Rc.510A>GSubstitution - coding silent
VWA3AENSG00000175267ENST00000389398p.C546Rc.1636T>CSubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.?c.607-4T>GUnknown
OR1L6ENSG00000171459ENST00000373684p.S130Sc.390C>TSubstitution - coding silent
UBN2ENSG00000157741ENST00000473989p.A1040Ac.3120C>TSubstitution - coding silent
TBC1D10CENSG00000175463ENST00000312390p.R412Rc.1236C>TSubstitution - coding silent
OR4D11ENSG00000176200ENST00000313253p.L107Fc.319C>TSubstitution - Missense
SLC6A19ENSG00000174358ENST00000304460p.A273Tc.817G>ASubstitution - Missense
SU_KSR2p.?c.1082+8C>TUnknown
TIE1ENSG00000066056ENST00000372476p.T114Mc.341C>TSubstitution - Missense
INPP5BENSG00000204084ENST00000373026p.P700Pc.2100C>GSubstitution - coding silent
PRDM2ENSG00000116731ENST00000235372p.G520Gc.1560C>ASubstitution - coding silent
PADI4ENSG00000159339ENST00000375448p.I313Tc.938T>CSubstitution - Missense
IL7RENSG00000168685ENST00000303115p.V344Vc.1032G>TSubstitution - coding silent
DHPSENSG00000095059ENST00000210060p.T237fs*25c.708_709insAInsertion - Frameshift
ABCC11ENSG00000121270ENST00000356608p.L1003Fc.3007C>TSubstitution - Missense
ARHGEF10ENSG00000104728ENST00000349830p.G901Ec.2702G>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.A714Ac.2142A>GSubstitution - coding silent
PAPOLGENSG00000115421ENST00000238714p.Y432Sc.1295A>CSubstitution - Missense
ENST00000359737p.M916Vc.2746A>GSubstitution - Missense
ENST00000349653p.Q546Qc.1638G>ASubstitution - coding silent
CATSPERGENSG00000099338ENST00000409235p.Y894Cc.2681A>GSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ASB5ENSG00000164122ENST00000296525p.Q92Hc.276G>CSubstitution - Missense
PPA2ENSG00000138777ENST00000357415p.A277Vc.830C>TSubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.?c.3319-7A>GUnknown
ATICENSG00000138363ENST00000236959p.G439Rc.1315G>ASubstitution - Missense
OR10G3ENSG00000169208ENST00000303532p.M137Ic.411G>CSubstitution - Missense
TXNDC16ENSG00000087301ENST00000281741p.R759Cc.2275C>TSubstitution - Missense
TRAF3IP1ENSG00000204104ENST00000373327p.T381Tc.1143G>ASubstitution - coding silent
KALRNENSG00000160145ENST00000291478p.T530Kc.1589C>ASubstitution - Missense
CFHENSG00000000971ENST00000367429p.A969Sc.2905G>TSubstitution - Missense
PIDDENSG00000177595ENST00000347755p.L77Lc.231G>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.K1948Ec.5842A>GSubstitution - Missense
OR14A16ENSG00000196772ENST00000357627p.T114Tc.342G>ASubstitution - coding silent
PHF20ENSG00000025293ENST00000374012p.S581Sc.1743C>GSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.G2950Gc.8850C>ASubstitution - coding silent
ZNF525ENSG00000203326ENST00000474037p.Y257*c.771C>GSubstitution - Nonsense
ZNF324BENSG00000249471ENST00000336614p.T516Tc.1548C>TSubstitution - coding silent
SAGENSG00000130561ENST00000409110p.Y88Hc.262T>CSubstitution - Missense
DHX34ENSG00000134815ENST00000328771p.A610Ac.1830C>TSubstitution - coding silent
IGSF11ENSG00000144847ENST00000393775p.E278Qc.832G>CSubstitution - Missense
ZNF100ENSG00000197020ENST00000305570p.S94Fc.281C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
RABGAP1ENSG00000011454ENST00000373647p.L852Lc.2554T>CSubstitution - coding silent
EEF1DENSG00000104529ENST00000423316p.Y28Yc.84C>TSubstitution - coding silent
OR2T33ENSG00000177212ENST00000318021p.M134Ic.402G>ASubstitution - Missense
OR4C3ENSG00000176547ENST00000319856p.F236Lc.708C>ASubstitution - Missense
OR4N5ENSG00000184394ENST00000333629p.F168Fc.504C>TSubstitution - coding silent
COL8A2ENSG00000171812ENST00000397799p.P607Pc.1821A>CSubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.R571Wc.1711C>TSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.I524Ic.1572C>TSubstitution - coding silent
PAPPA2ENSG00000116183ENST00000367661p.G161Wc.481G>TSubstitution - Missense
LMF1ENSG00000103227ENST00000262301p.V369Vc.1107C>TSubstitution - coding silent
ZNF480ENSG00000198464ENST00000335090p.C214Yc.641G>ASubstitution - Missense
HEG1ENSG00000173706ENST00000311127p.T513Tc.1539A>GSubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000389532p.?c.666+5A>CUnknown
GGNENSG00000179168ENST00000334928p.F351Fc.1053C>TSubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.R2104Gc.6310C>GSubstitution - Missense
MFSD12ENSG00000161091ENST00000355415p.G324Dc.971G>ASubstitution - Missense
TBCDENSG00000141556ENST00000397466p.R68Qc.203G>ASubstitution - Missense
DNMT1ENSG00000130816ENST00000340748p.D1520Dc.4560C>TSubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.F350Sc.1049T>CSubstitution - Missense
ZP4ENSG00000116996ENST00000366570p.P81Lc.242C>TSubstitution - Missense
CATSPER1ENSG00000175294ENST00000312106p.R552Rc.1656G>ASubstitution - coding silent
NUFIP2ENSG00000108256ENST00000225388p.S383Sc.1149T>ASubstitution - coding silent
ENST00000366809p.T74Tc.222G>ASubstitution - coding silent
BTN2A1ENSG00000112763ENST00000312541p.S481Sc.1443C>ASubstitution - coding silent
PARP14ENSG00000173193ENST00000474629p.Y830Yc.2490T>CSubstitution - coding silent
PRDM6ENSG00000061455ENST00000407847p.Q571Hc.1713G>TSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000376083p.K1019Rc.3056A>GSubstitution - Missense
ASPAENSG00000108381ENST00000263080p.A305Ec.914C>ASubstitution - Missense
C11orf31ENSG00000211450ENST00000388857p.V67Vc.201A>GSubstitution - coding silent
ENST00000256343_v70p.R510Sc.1528C>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.C590Cc.1770T>CSubstitution - coding silent
CNKSR2ENSG00000149970ENST00000279451p.E622*c.1864G>TSubstitution - Nonsense
CYP11B1ENSG00000160882ENST00000292427p.R282Hc.845G>ASubstitution - Missense
OAS3ENSG00000111331ENST00000228928p.G983Ac.2948G>CSubstitution - Missense
RSF1ENSG00000048649ENST00000308488p.D1224Dc.3672C>TSubstitution - coding silent
COPAENSG00000122218ENST00000241704p.L167Lc.501G>ASubstitution - coding silent
ACAP3ENSG00000131584ENST00000354700p.P603Tc.1807C>ASubstitution - Missense
SNRNP25ENSG00000161981ENST00000383018p.Q78Rc.233A>GSubstitution - Missense
DLATENSG00000150768ENST00000280346p.A337Tc.1009G>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
SLC24A5ENSG00000188467ENST00000341459p.F458Cc.1373T>GSubstitution - Missense
FGGYENSG00000172456ENST00000303721p.R396Wc.1186C>TSubstitution - Missense
ENST00000340028p.G99Gc.297C>TSubstitution - coding silent
NPFFR2ENSG00000056291ENST00000308744p.P42fs*22c.124delCDeletion - Frameshift
ENST00000325084p.K1438Kc.4314G>ASubstitution - coding silent
C22orf24ENSG00000128254ENST00000543051p.V112Ic.334G>ASubstitution - Missense
ERCC3ENSG00000163161ENST00000285398p.R742Wc.2224C>TSubstitution - Missense
CXCR2ENSG00000180871ENST00000318507p.W170Cc.510G>CSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.Y494Cc.1481A>GSubstitution - Missense
DDOENSG00000203797ENST00000368924p.A4Dc.11C>ASubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.T648Tc.1944G>TSubstitution - coding silent
BRWD3ENSG00000165288ENST00000373275p.E1377Kc.4129G>ASubstitution - Missense
ZNF568ENSG00000198453ENST00000455427p.L270Fc.808C>TSubstitution - Missense
TRA2BENSG00000136527ENST00000453386p.R241Tc.722G>CSubstitution - Missense
NM_012197.2p.L780Lc.2338T>CSubstitution - coding silent
XIRP2ENSG00000163092ENST00000409728p.T192Tc.576G>CSubstitution - coding silent
EGFLAMENSG00000164318ENST00000354891p.G366fs*32c.1091delGDeletion - Frameshift
PPLENSG00000118898ENST00000345988p.R1597Wc.4789C>TSubstitution - Missense
ATP2A2ENSG00000174437ENST00000539276p.G438Gc.1314A>CSubstitution - coding silent
PITPNM1ENSG00000110697ENST00000534749p.Q760Rc.2279A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P2995Ac.8983C>GSubstitution - Missense
KIAA0355ENSG00000166398ENST00000299505p.T48Mc.143C>TSubstitution - Missense
ENST00000290422p.G9Cc.25G>TSubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.P320Pc.960C>TSubstitution - coding silent
KIR3DL1ENSG00000167633ENST00000402254p.I182Mc.546C>GSubstitution - Missense
HOXD13ENSG00000128714ENST00000392539p.R274Rc.822A>GSubstitution - coding silent
SEMA5BENSG00000082684ENST00000451055p.N805Kc.2415C>GSubstitution - Missense
CELENSG00000170835ENST00000372080p.G455Rc.1363G>CSubstitution - Missense
DUSP9ENSG00000130829ENST00000370167p.M183Vc.547A>GSubstitution - Missense
TIE1ENSG00000066056ENST00000538015p.T114Mc.341C>TSubstitution - Missense
CLN3ENSG00000188603ENST00000354630p.T108Kc.323C>ASubstitution - Missense
CASTENSG00000153113ENST00000395813p.E457Gc.1370A>GSubstitution - Missense
SERPINF2ENSG00000167711ENST00000324015p.R161Qc.482G>ASubstitution - Missense
GREM2ENSG00000180875ENST00000318160p.Q150*c.448C>TSubstitution - Nonsense
POSTNENSG00000133110ENST00000379747p.T785Tc.2355C>ASubstitution - coding silent
ACAP3ENSG00000131584ENST00000354980p.P561Tc.1681C>ASubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.V1347Gc.4040T>GSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.I1803Ic.5409C>TSubstitution - coding silent
XM_371254.3p.?c.1461+4C>TUnknown
RUSC2ENSG00000198853ENST00000361226p.N903Kc.2709C>ASubstitution - Missense
SEBOX,VTNENSG00000109072ENST00000431468p.C151fs*3c.452_453delGTDeletion - Frameshift
ENST00000360228_v70p.K1437Kc.4311G>ASubstitution - coding silent
ABATENSG00000183044ENST00000396600p.?c.71-4G>AUnknown
ZNF804BENSG00000182348ENST00000333190p.S381Sc.1143T>ASubstitution - coding silent
TBC1D22AENSG00000054611ENST00000337137p.A291Ac.873G>TSubstitution - coding silent
SMARCA2ENSG00000080503ENST00000349721p.E1212*c.3634G>TSubstitution - Nonsense
ITIH6ENSG00000102313ENST00000218436p.H111Nc.331C>ASubstitution - Missense
GPR75-ASB3ENSG00000115239ENST00000263634p.L474Lc.1422A>TSubstitution - coding silent
CATSPERGENSG00000099338ENST00000312265p.Y534Cc.1601A>GSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.P4620Lc.13859C>TSubstitution - Missense
CARD9ENSG00000187796ENST00000371734p.V48Vc.144G>ASubstitution - coding silent
PLECENSG00000178209ENST00000354589p.G2813Gc.8439C>ASubstitution - coding silent
PAHENSG00000171759ENST00000553106p.F299Cc.896T>GSubstitution - Missense
SCYL1ENSG00000142186ENST00000270176p.W649*c.1946G>ASubstitution - Nonsense
PAPPA2ENSG00000116183ENST00000367662p.G161Wc.481G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.L333Lc.997C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.?c.376-4_384delacagTACTCCCCTUnknown
DEFA3ENSG00000239839ENST00000327857p.R69Sc.207A>CSubstitution - Missense
BPTFENSG00000171634ENST00000335221p.P2667_P2668insAPPAPPc.7977_7978ins18Insertion - In frame
TGIF1ENSG00000177426ENST00000330513p.A80fs*54c.238delGDeletion - Frameshift
GPR31ENSG00000120436ENST00000366834p.G304Rc.910G>ASubstitution - Missense
SHISA6ENSG00000188803ENST00000432116p.A84fs*17c.249delGDeletion - Frameshift
MPPED1ENSG00000186732ENST00000538182p.D110Dc.330C>TSubstitution - coding silent
FAM109BENSG00000177096ENST00000321753p.A86Pc.256G>CSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.E1212*c.3634G>TSubstitution - Nonsense
KIAA1683ENSG00000130518ENST00000392413p.M1103Vc.3307A>GSubstitution - Missense
PHLDB2ENSG00000144824ENST00000431670p.?c.1863+4A>TUnknown
CLVS2ENSG00000146352ENST00000275162p.K310Nc.930A>TSubstitution - Missense
KSR2ENSG00000171435ENST00000339824p.?c.986+8C>TUnknown
MLXIPENSG00000175727ENST00000377037p.R120Wc.358C>TSubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.S222Ic.665G>TSubstitution - Missense
RASSF5ENSG00000136653ENST00000355294p.T352Tc.1056G>ASubstitution - coding silent
IL18BPENSG00000137496ENST00000337131p.E122Qc.364G>CSubstitution - Missense
NM_130398.2p.Y312Fc.935A>TSubstitution - Missense
CIITAENSG00000179583ENST00000324288p.G531Ac.1592G>CSubstitution - Missense
MCM3ENSG00000112118ENST00000596288p.R812Rc.2436C>TSubstitution - coding silent
PODXLENSG00000128567ENST00000537928p.A304Vc.911C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.G2799Gc.8397C>ASubstitution - coding silent
BNC2ENSG00000173068ENST00000380666p.P340Sc.1018C>TSubstitution - Missense
BNC2ENSG00000173068ENST00000418777p.P297Sc.889C>TSubstitution - Missense
PNPLA7ENSG00000130653ENST00000406427p.R647Lc.1940G>TSubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.?c.666+5A>CUnknown
PBDC1ENSG00000102390ENST00000373357p.I54Lc.160A>CSubstitution - Missense
MICAL2ENSG00000133816ENST00000379612p.P628Pc.1884C>TSubstitution - coding silent
OR4C5ENSG00000176540ENST00000319813p.C118Yc.353G>ASubstitution - Missense
PHF21AENSG00000135365ENST00000323180p.S325Ic.974G>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.Q836Kc.2506C>ASubstitution - Missense
FAM72BENSG00000188610ENST00000369390p.A144Ac.432A>CSubstitution - coding silent
OR6F1ENSG00000169214ENST00000302084p.R172fs*24c.515delGDeletion - Frameshift
DOCK7ENSG00000116641ENST00000340370p.V539Ic.1615G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.?c.376-4_384delacagTACTCCCCTUnknown
FAM83CENSG00000125998ENST00000374408p.A99Dc.296C>ASubstitution - Missense
GCDHENSG00000105607ENST00000457854p.G354Gc.1062C>TSubstitution - coding silent
LRRC16AENSG00000079691ENST00000377969p.T119Tc.357A>TSubstitution - coding silent
ENST00000249505p.R266Rc.798A>GSubstitution - coding silent
MYO18BENSG00000133454ENST00000335473p.Q89Hc.267G>TSubstitution - Missense
OR5H15ENSG00000233412ENST00000356526p.T78Tc.234C>TSubstitution - coding silent
SLC16A5ENSG00000170190ENST00000450736p.I58fs*144c.171_172insCCCCTCCInsertion - Frameshift
CCNT2ENSG00000082258ENST00000264157p.Y494Cc.1481A>GSubstitution - Missense
MPPED1ENSG00000186732ENST00000417669p.D77Dc.231C>TSubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.P1233Lc.3698C>TSubstitution - Missense
CASTENSG00000153113ENST00000309190p.E352Gc.1055A>GSubstitution - Missense
PDE8BENSG00000113231ENST00000264917p.T128Tc.384G>ASubstitution - coding silent
TDRD6ENSG00000180113ENST00000316081p.R1007Tc.3020G>CSubstitution - Missense
MEP1AENSG00000112818ENST00000230588p.?c.95-7T>CUnknown
SCNN1GENSG00000166828ENST00000300061p.L511Qc.1532T>ASubstitution - Missense
GLE1ENSG00000119392ENST00000309971p.A198Vc.593C>TSubstitution - Missense
EXO1ENSG00000174371ENST00000366548p.Y312Fc.935A>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.A545Ac.1635A>GSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.R1546Qc.4637G>ASubstitution - Missense
SOX4ENSG00000124766ENST00000244745p.S459Wc.1376C>GSubstitution - Missense
EDRF1ENSG00000107938ENST00000356792p.G662Rc.1984G>CSubstitution - Missense
RNF31ENSG00000092098ENST00000324103p.N909Nc.2727T>CSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.H738Yc.2212C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.G2125Sc.6373G>ASubstitution - Missense
ERGIC2ENSG00000087502ENST00000360150p.H208Rc.623A>GSubstitution - Missense
CACHD1ENSG00000158966ENST00000290039p.L1037Ic.3109T>ASubstitution - Missense
PIN1ENSG00000127445ENST00000247970p.H157Qc.471C>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.?c.376-4_384delacagTACTCCCCTUnknown
ZACNENSG00000186919ENST00000334586p.?c.1048+8G>AUnknown
PLECENSG00000178209ENST00000436759p.G2840Gc.8520C>ASubstitution - coding silent
SLC14A2ENSG00000132874ENST00000255226p.A711Ac.2133A>CSubstitution - coding silent
SFI1ENSG00000198089ENST00000400288p.T357Ac.1069A>GSubstitution - Missense
IDUAENSG00000127415ENST00000247933p.R122Kc.365G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.R2563Lc.7688G>TSubstitution - Missense
EYSENSG00000188107ENST00000370621p.L414Lc.1242G>ASubstitution - coding silent
AK8ENSG00000165695ENST00000298545p.T215Tc.645G>ASubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.Y1594Cc.4781A>GSubstitution - Missense
TTLL9ENSG00000131044ENST00000375938p.R119Qc.356G>ASubstitution - Missense
PODXLENSG00000128567ENST00000541194p.A338Vc.1013C>TSubstitution - Missense
HAPLN1ENSG00000145681ENST00000274341p.R247Kc.740G>ASubstitution - Missense
C1QBENSG00000173369ENST00000314933p.P44Tc.130C>ASubstitution - Missense
PIDDENSG00000177595ENST00000347755p.L77Lc.231G>TSubstitution - coding silent
KANSL1ENSG00000120071ENST00000262419p.R433Gc.1297A>GSubstitution - Missense
INSRENSG00000171105ENST00000302850p.S296Sc.888G>CSubstitution - coding silent
MYO1FENSG00000142347ENST00000338257p.E181Ac.542A>CSubstitution - Missense
MLLT4ENSG00000130396ENST00000366806p.T74Tc.222G>ASubstitution - coding silent
EPHB1ENSG00000154928ENST00000398015p.?c.59-2A>GUnknown
PBDC1ENSG00000102390ENST00000373358p.I54Lc.160A>CSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.M984Tc.2951T>CSubstitution - Missense
DSEENSG00000111817ENST00000331677p.P579Pc.1737C>TSubstitution - coding silent
EYSENSG00000188107ENST00000342421p.L414Lc.1242G>ASubstitution - coding silent
ENST00000326605p.Y143Cc.428A>GSubstitution - Missense
CLVS2ENSG00000146352ENST00000275162p.K310Nc.930A>TSubstitution - Missense
EYA4ENSG00000112319ENST00000355167p.T548Tc.1644G>ASubstitution - coding silent
EYA4ENSG00000112319ENST00000367895p.T548Tc.1644G>ASubstitution - coding silent
RAB11FIP4ENSG00000131242ENST00000325874p.R76Lc.227G>TSubstitution - Missense
C17orf66ENSG00000172653ENST00000311880p.R544Qc.1631G>ASubstitution - Missense
UNC45BENSG00000141161ENST00000394570p.R102Pc.305G>CSubstitution - Missense
SULT6B1ENSG00000138068ENST00000260637p.F220Fc.660C>TSubstitution - coding silent
EPXENSG00000121053ENST00000225371p.N700Nc.2100C>TSubstitution - coding silent
MFSD12ENSG00000161091ENST00000398558p.G324Dc.971G>ASubstitution - Missense
MFSD12ENSG00000161091ENST00000389395p.G324Dc.971G>ASubstitution - Missense
USP32ENSG00000170832ENST00000300896p.?c.4123+3G>AUnknown
ZNF793ENSG00000188227ENST00000445217p.S319Lc.956C>TSubstitution - Missense
SPATA16ENSG00000144962ENST00000351008p.S184Rc.552C>GSubstitution - Missense
USP13ENSG00000058056ENST00000263966p.N527Sc.1580A>GSubstitution - Missense
CARD9ENSG00000187796ENST00000371732p.V48Vc.144G>ASubstitution - coding silent
C9orf172ENSG00000232434ENST00000436881p.E701Dc.2103G>CSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.K1059Rc.3176A>GSubstitution - Missense
IFNL3ENSG00000197110ENST00000413851p.A109Ac.327T>CSubstitution - coding silent
POLMENSG00000122678ENST00000242248p.T178Ic.533C>TSubstitution - Missense
ENST00000274705p.S645Sc.1935G>TSubstitution - coding silent
ENST00000274705p.N546Nc.1638C>TSubstitution - coding silent
ENST00000274705p.R580Rc.1740C>ASubstitution - coding silent
MYLK4ENSG00000145949ENST00000268446p.W58*c.173G>ASubstitution - Nonsense
UBR5ENSG00000104517ENST00000520539p.S2325Nc.6974G>ASubstitution - Missense
SCNN1BENSG00000168447ENST00000343070p.Q608Hc.1824G>TSubstitution - Missense
SCNN1BENSG00000168447ENST00000307331p.Q653Hc.1959G>TSubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.V1278Gc.3833T>GSubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.V1143Gc.3428T>GSubstitution - Missense
ARHGEF1ENSG00000076928ENST00000337665p.Q84Qc.252G>ASubstitution - coding silent
PSG5ENSG00000204941ENST00000342951p.T80Tc.240A>GSubstitution - coding silent
ADCY8ENSG00000155897ENST00000286355p.R772Lc.2315G>TSubstitution - Missense
GLE1ENSG00000119392ENST00000372770p.A198Vc.593C>TSubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.H152Qc.456C>ASubstitution - Missense
CLDN1ENSG00000163347ENST00000295522p.V97Vc.291G>CSubstitution - coding silent
TMEM207ENSG00000198398ENST00000354905p.?c.304+9T>CUnknown
LPPENSG00000145012ENST00000312675p.R418Cc.1252C>TSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.I1905Mc.5715C>GSubstitution - Missense
ZSWIM6ENSG00000130449ENST00000252744p.N491Sc.1472A>GSubstitution - Missense
NFKBIEENSG00000146232ENST00000275015p.?c.782+9G>CUnknown
MEP1AENSG00000112818ENST00000230588p.P432Lc.1295C>TSubstitution - Missense
MCM3ENSG00000112118ENST00000229854p.R767Rc.2301C>TSubstitution - coding silent
EDRF1ENSG00000107938ENST00000368813p.G82Rc.244G>CSubstitution - Missense
PPHLN1ENSG00000134283ENST00000432191p.P356Lc.1067C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.G1689Sc.5065G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.I4764Ic.14292C>TSubstitution - coding silent
TIE1ENSG00000066056ENST00000538015p.E172Kc.514G>ASubstitution - Missense
DOCK7ENSG00000116641ENST00000251157p.V539Ic.1615G>ASubstitution - Missense
DOCK7ENSG00000116641ENST00000404627p.V539Ic.1615G>ASubstitution - Missense
BTBD8ENSG00000189195ENST00000370382p.?c.753-3C>TUnknown
USP6ENSG00000129204ENST00000304328p.?c.2567-3C>AUnknown
GCDHENSG00000105607ENST00000422947p.G310Gc.930C>TSubstitution - coding silent
TTLL9ENSG00000131044ENST00000310998p.R69Qc.206G>ASubstitution - Missense
PLCB1ENSG00000182621ENST00000439627p.K115Rc.344A>GSubstitution - Missense
TBC1D22AENSG00000054611ENST00000380995p.A244Ac.732G>TSubstitution - coding silent
TRAF3IP1ENSG00000204104ENST00000391994p.T381Tc.1143G>ASubstitution - coding silent
SULT6B1ENSG00000138068ENST00000535679p.F258Fc.774C>TSubstitution - coding silent
KCNIP3ENSG00000115041ENST00000360990p.N114Nc.342C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.?c.376-4_384delacagTACTCCCCTUnknown
CACNA1EENSG00000198216ENST00000357570p.G2076Sc.6226G>ASubstitution - Missense
CASTENSG00000153113ENST00000338252p.E361Gc.1082A>GSubstitution - Missense
KIR3DL1ENSG00000167633ENST00000391728p.I182Mc.546C>GSubstitution - Missense
OLA1ENSG00000138430ENST00000284719p.L42Ic.124T>ASubstitution - Missense
ASB1ENSG00000065802ENST00000264607p.E132Dc.396A>TSubstitution - Missense
CCDC54ENSG00000138483ENST00000261058p.S204Yc.611C>ASubstitution - Missense
NLRC3ENSG00000167984ENST00000301749p.E425Ec.1275G>ASubstitution - coding silent
NLRC3ENSG00000167984ENST00000324659p.E360Ec.1080G>ASubstitution - coding silent
CREBBPENSG00000005339ENST00000262367p.?c.4133+7G>AUnknown
MYH13ENSG00000006788ENST00000252172p.L603fs*63c.1802_1803insCInsertion - Frameshift
SHISA6ENSG00000188803ENST00000441885p.A84fs*17c.249delGDeletion - Frameshift
ZNF480ENSG00000198464ENST00000468240p.C233Yc.698G>ASubstitution - Missense
PLCB1ENSG00000182621ENST00000338037p.K796Rc.2387A>GSubstitution - Missense
PLCB1ENSG00000182621ENST00000378641p.K796Rc.2387A>GSubstitution - Missense
C22orf24ENSG00000128254ENST00000248984p.V45Ic.133G>ASubstitution - Missense
C22orf24ENSG00000128254ENST00000248984p.V45Ic.133G>ASubstitution - Missense
PPA2ENSG00000138777ENST00000341695p.A262Vc.785C>TSubstitution - Missense
GPR78ENSG00000155269ENST00000382487p.F268Lc.804C>ASubstitution - Missense
SSX5ENSG00000165583ENST00000311798p.R64Rc.190A>CSubstitution - coding silent
ZNF579ENSG00000218891ENST00000325421p.P511Lc.1532C>TSubstitution - Missense
SAFB2ENSG00000130254ENST00000252542p.A870Ac.2610G>TSubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.V479Mc.1435G>ASubstitution - Missense
ZNF587BENSG00000269343ENST00000442832p.K249Kc.747A>GSubstitution - coding silent
SLC16A5ENSG00000170190ENST00000580123p.I58fs*144c.171_172insCCCCTCCInsertion - Frameshift
ODC1ENSG00000115758ENST00000234111p.G302Cc.904G>TSubstitution - Missense
IDUAENSG00000127415ENST00000453894p.R75Kc.224G>ASubstitution - Missense
EXOC6BENSG00000144036ENST00000272427p.T692Nc.2075C>ASubstitution - Missense
EXOC6BENSG00000144036ENST00000272427p.T229Nc.686C>ASubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.C362Yc.1085G>ASubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.P121Lc.362C>TSubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.A131Ac.393C>TSubstitution - coding silent
SDHAENSG00000073578ENST00000264932p.T87Rc.260C>GSubstitution - Missense
TARSENSG00000113407ENST00000265112p.K231fs*10c.691delADeletion - Frameshift
SHPRHENSG00000146414ENST00000367505p.D263Dc.789T>CSubstitution - coding silent
SHPRHENSG00000146414ENST00000438092p.D263Dc.789T>CSubstitution - coding silent
ZNF804BENSG00000182348ENST00000333190p.P922Lc.2765C>TSubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.E622*c.1864G>TSubstitution - Nonsense
IWS1ENSG00000163166ENST00000295321p.P129Pc.387T>GSubstitution - coding silent
FARSBENSG00000116120ENST00000281828p.E322*c.964G>TSubstitution - Nonsense
DNERENSG00000187957ENST00000341772p.G562Sc.1684G>ASubstitution - Missense
SAGENSG00000130561ENST00000409110p.Y88Hc.262T>CSubstitution - Missense
AGAP1ENSG00000157985ENST00000304032p.L664Pc.1991T>CSubstitution - Missense
SEMA5BENSG00000082684ENST00000357599p.N751Kc.2253C>GSubstitution - Missense
SEMA5BENSG00000082684ENST00000195173p.N751Kc.2253C>GSubstitution - Missense
ENST00000310276p.Y667Yc.2001T>CSubstitution - coding silent
ZNF148ENSG00000163848ENST00000360647p.D300Vc.899A>TSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.T2227Kc.6680C>ASubstitution - Missense
SV2CENSG00000122012ENST00000502798p.F507Lc.1521C>ASubstitution - Missense
TREM2ENSG00000095970ENST00000373113p.R136Qc.407G>ASubstitution - Missense
TREM2ENSG00000095970ENST00000373122p.R136Qc.407G>ASubstitution - Missense
TREM2ENSG00000095970ENST00000338469p.R136Qc.407G>ASubstitution - Missense
ZCWPW1ENSG00000078487ENST00000398027p.?c.752-7C>GUnknown
RABL5ENSG00000128581ENST00000315322p.R96Wc.286C>TSubstitution - Missense
PNPLA7ENSG00000130653ENST00000277531p.R622Lc.1865G>TSubstitution - Missense
BNC2ENSG00000173068ENST00000380672p.P340Sc.1018C>TSubstitution - Missense
GDF15ENSG00000130513ENST00000252809p.A123Pc.367G>CSubstitution - Missense
ENST00000397179p.P199Pc.597C>TSubstitution - coding silent
CLN3ENSG00000188603ENST00000359984p.T108Kc.323C>ASubstitution - Missense
SULT1A1ENSG00000196502ENST00000314752p.P30Rc.89C>GSubstitution - Missense
PHLDB2ENSG00000144824ENST00000393923p.?c.1944+4A>TUnknown
PHLDB2ENSG00000144824ENST00000412622p.?c.1863+4A>TUnknown
LRP1BENSG00000168702ENST00000389484p.G4011Ec.12032G>ASubstitution - Missense
IGSF11ENSG00000144847ENST00000354673p.E277Qc.829G>CSubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.?c.59-2A>GUnknown
FAT1ENSG00000083857ENST00000441802p.A2403fs*7c.7207delGDeletion - Frameshift
SALL3ENSG00000256463ENST00000537592p.Q365Hc.1095G>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.K1948Ec.5842A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.K1842Ec.5524A>GSubstitution - Missense
OR2L2ENSG00000203663ENST00000366479p.L291Lc.873G>TSubstitution - coding silent
EXTL1ENSG00000158008ENST00000374280p.S527*c.1580C>ASubstitution - Nonsense
FGGYENSG00000172456ENST00000303721p.I58Mc.174C>GSubstitution - Missense
ENST00000315089p.R284Wc.850C>TSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.Y690*c.2070C>GSubstitution - Nonsense
PTPN21ENSG00000070778ENST00000328736p.A953Ac.2859A>GSubstitution - coding silent
NRDE2ENSG00000119720ENST00000354366p.A1061Tc.3181G>ASubstitution - Missense
BTBD8ENSG00000189195ENST00000342818p.?c.753-3C>TUnknown
ENST00000599516p.T83Mc.248C>TSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.I1803Ic.5409C>TSubstitution - coding silent
ENST00000318301p.P768Pc.2304T>CSubstitution - coding silent
ENST00000299564p.L46Lc.138G>ASubstitution - coding silent
PNPOENSG00000108439ENST00000225573p.E251*c.751G>TSubstitution - Nonsense
HOXB13ENSG00000159184ENST00000290295p.P158Qc.473C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.L333Lc.997C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P2995Ac.8983C>GSubstitution - Missense
TTNENSG00000155657ENST00000360870p.H4823Lc.14468A>TSubstitution - Missense
MYBL1ENSG00000185697ENST00000522677p.T479Ic.1436C>TSubstitution - Missense
RAB33AENSG00000134594ENST00000257017p.S15Sc.45G>CSubstitution - coding silent
INSRENSG00000171105ENST00000302850p.S296Sc.888G>CSubstitution - coding silent
MED16ENSG00000175221ENST00000325464p.S326Sc.978C>TSubstitution - coding silent
PHF2ENSG00000197724ENST00000359246p.T143Mc.428C>TSubstitution - Missense
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>CSubstitution - coding silent
ENST00000293218_v68p.N63fs*50c.185_188delTGAADeletion - Frameshift
UBA2ENSG00000126261ENST00000246548p.S565fs*2c.1690delADeletion - Frameshift
NUDT19ENSG00000213965ENST00000397061p.R142Wc.424C>TSubstitution - Missense
SCAF1ENSG00000126461ENST00000360565p.?c.167-4C>TUnknown
CHMP4BENSG00000101421ENST00000217402p.D212Yc.634G>TSubstitution - Missense
PODXLENSG00000128567ENST00000378555p.A336Vc.1007C>TSubstitution - Missense
ZC3HC1ENSG00000091732ENST00000358303p.Q30fs*9c.82_83insCInsertion - Frameshift
ANKRD18AENSG00000180071ENST00000399703p.Y133*c.399C>ASubstitution - Nonsense
CADPSENSG00000163618ENST00000383710p.T1212Sc.3635C>GSubstitution - Missense
CADPSENSG00000163618ENST00000283269p.T1173Sc.3518C>GSubstitution - Missense
CALB1ENSG00000104327ENST00000265431p.E121Kc.361G>ASubstitution - Missense
ENST00000340028p.I100Fc.298A>TSubstitution - Missense
BPTFENSG00000171634ENST00000306378p.P2684_P2685insAPPAPPc.8028_8029ins18Insertion - In frame
XM_043272.9p.N593Tc.1778A>CSubstitution - Missense
AATKENSG00000181409ENST00000326724p.E1373Ec.4119G>ASubstitution - coding silent
TBCDENSG00000141556ENST00000355528p.R454Qc.1361G>ASubstitution - Missense
CELF4ENSG00000101489ENST00000361795p.P364Pc.1092C>ASubstitution - coding silent
SMARCA4ENSG00000127616ENST00000429416p.P320Pc.960C>TSubstitution - coding silent
GCDHENSG00000105607ENST00000222214p.G354Gc.1062C>TSubstitution - coding silent
CACNA1AENSG00000141837ENST00000360228p.K1437Kc.4311G>ASubstitution - coding silent
ENST00000357018p.K1438Kc.4314G>ASubstitution - coding silent
BRWD1ENSG00000185658ENST00000342449p.L1782Fc.5344C>TSubstitution - Missense
KCNIP3ENSG00000115041ENST00000468529p.N110Nc.330C>TSubstitution - coding silent
FRG2CENSG00000172969ENST00000308062p.A254Dc.761C>ASubstitution - Missense
SEPT12ENSG00000140623ENST00000268231p.V222Fc.664G>TSubstitution - Missense
PCGF2ENSG00000056661ENST00000360797p.H176Dc.526C>GSubstitution - Missense
RELL1ENSG00000181826ENST00000314117p.S23fs*60c.65_66insTInsertion - Frameshift
MLLT4ENSG00000130396ENST00000392108p.T74Tc.222G>ASubstitution - coding silent
LRRC16AENSG00000079691ENST00000329474p.T280Tc.840A>TSubstitution - coding silent
ENST00000399313p.T280Tc.840A>TSubstitution - coding silent
ENST00000265424p.?c.1400+1C>AUnknown
UBN2ENSG00000157741ENST00000288561p.A957Ac.2871C>TSubstitution - coding silent
ZC3H3ENSG00000014164ENST00000262577p.R633Cc.1897C>TSubstitution - Missense
EEF1DENSG00000104529ENST00000442189p.Y28Yc.84C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.G2813Gc.8439C>ASubstitution - coding silent
PLECENSG00000178209ENST00000354958p.G2791Gc.8373C>ASubstitution - coding silent
NM_014629.1p.G678Ec.2033G>ASubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.E813Kc.2437G>ASubstitution - Missense
GNALENSG00000141404ENST00000423027p.E301Kc.901G>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.1498+5G>CUnknown
TP53ENSG00000141510ENST00000269305p.?c.376-4_384delacagTACTCCCCTUnknown
OR10X1ENSG00000186400ENST00000368150p.M317Ic.951G>TSubstitution - Missense
JAM3ENSG00000166086ENST00000299106p.R236Cc.706C>TSubstitution - Missense
XM_031689.7p.R1053*c.3157C>TSubstitution - Nonsense
TRIOENSG00000038382ENST00000344204p.R1006Cc.3016C>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.C590Cc.1770T>CSubstitution - coding silent
KIAA0355ENSG00000166398ENST00000299505p.P743Pc.2229G>ASubstitution - coding silent
EGFLAMENSG00000164318ENST00000322350p.G366fs*32c.1091delGDeletion - Frameshift
SYTL2ENSG00000137501ENST00000316356p.A208Tc.622G>ASubstitution - Missense
RASSF5ENSG00000136653ENST00000304534p.T199Tc.597G>ASubstitution - coding silent
ENST00000338603p.T352Tc.1056G>ASubstitution - coding silent
RD3ENSG00000198570ENST00000367002p.R45Qc.134G>ASubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.G1274Vc.3821G>TSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.G1274Vc.3821G>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.1498+5G>CUnknown
CAB39LENSG00000102547ENST00000355854p.E64Ac.191A>CSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.V1700Fc.5098G>TSubstitution - Missense
SNAP47ENSG00000143740ENST00000315781p.M421Vc.1261A>GSubstitution - Missense
EPHX1ENSG00000143819ENST00000366837p.M235Tc.704T>CSubstitution - Missense
TLL2ENSG00000095587ENST00000357947p.E589*c.1765G>TSubstitution - Nonsense
OR10G7ENSG00000182634ENST00000330487p.P128Rc.383C>GSubstitution - Missense
MICAL2ENSG00000133816ENST00000256194p.P628Pc.1884C>TSubstitution - coding silent
VWA5AENSG00000110002ENST00000392748p.L632Fc.1896A>TSubstitution - Missense
PHF21AENSG00000135365ENST00000418153p.S324Ic.971G>TSubstitution - Missense
NTPCRENSG00000135778ENST00000366628p.T132Tc.396G>ASubstitution - coding silent
SLCO1B1ENSG00000134538ENST00000256958p.S132Pc.394T>CSubstitution - Missense
CCNT1ENSG00000129315ENST00000261900p.R709Qc.2126G>ASubstitution - Missense
ZNF839ENSG00000022976ENST00000442396p.R838Rc.2514A>GSubstitution - coding silent
OR4E2ENSG00000221977ENST00000408935p.M36Vc.106A>GSubstitution - Missense
IKBIPENSG00000166130ENST00000299157p.L273Fc.819G>CSubstitution - Missense
UTP20ENSG00000120800ENST00000261637p.V593Ic.1777G>ASubstitution - Missense
KIAA1033ENSG00000136051ENST00000332180p.T832Sc.2494A>TSubstitution - Missense
PPHLN1ENSG00000134283ENST00000395568p.P380Lc.1139C>TSubstitution - Missense
RPAP3ENSG00000005175ENST00000005386p.S391Sc.1173C>ASubstitution - coding silent
B3GALTLENSG00000187676ENST00000343307p.P258Lc.773C>TSubstitution - Missense
COPAENSG00000122218ENST00000368069p.L167Lc.501G>ASubstitution - coding silent
PAPPA2ENSG00000116183ENST00000367662p.T810Tc.2430G>ASubstitution - coding silent
PAPPA2ENSG00000116183ENST00000367661p.T810Tc.2430G>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000367570p.G2082Sc.6244G>ASubstitution - Missense
BUD13ENSG00000137656ENST00000260210p.H309Rc.926A>GSubstitution - Missense
NXPE1ENSG00000095110ENST00000424269p.C113Rc.337T>CSubstitution - Missense
BIRC2ENSG00000110330ENST00000227758p.T393Tc.1179A>TSubstitution - coding silent
ELP4ENSG00000109911ENST00000350638p.A197Sc.589G>TSubstitution - Missense
LGR4ENSG00000205213ENST00000379214p.F803Fc.2409C>TSubstitution - coding silent
KCNC4ENSG00000116396ENST00000369787p.W145Lc.434G>TSubstitution - Missense
KCNC4ENSG00000116396ENST00000438661p.W145Lc.434G>TSubstitution - Missense
F13BENSG00000143278ENST00000367412p.F258Ic.772T>ASubstitution - Missense
TPSAB1ENSG00000172236ENST00000338844p.I267Mc.801C>GSubstitution - Missense
ENST00000399868p.T53Kc.158C>ASubstitution - Missense
SCYL1ENSG00000142186ENST00000270176p.W649*c.1946G>ASubstitution - Nonsense
TIE1ENSG00000066056ENST00000372476p.E172Kc.514G>ASubstitution - Missense
P2RX7ENSG00000089041ENST00000546057p.Y343Sc.1028A>CSubstitution - Missense
MLXIPENSG00000175727ENST00000319080p.R530Wc.1588C>TSubstitution - Missense
NRASENSG00000213281ENST00000369535p.K5Rc.14A>GSubstitution - Missense
GANCENSG00000214013ENST00000318010p.D445Hc.1333G>CSubstitution - Missense
LRR1ENSG00000165501ENST00000298288p.F46Ic.136T>ASubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.I843Ic.2529C>TSubstitution - coding silent
SU_LRRK1p.I855Ic.2565C>TSubstitution - coding silent
SYT2ENSG00000143858ENST00000367267p.?c.179-9T>CUnknown
PLA2G5ENSG00000127472ENST00000375108p.G51Sc.151G>ASubstitution - Missense
SYTL2ENSG00000137501ENST00000316356p.N716Nc.2148C>TSubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.A623Ac.1869T>ASubstitution - coding silent


COSMIC

1 mutations reported
1 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
EP300ENSG00000100393ENST00000263253p.?c.1623-(43)del3Unknown10700188