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KMRC-20 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

664 mutations reported
262 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
ENST00000251757p.Q389*c.1165C>TSubstitution - Nonsense
HK1ENSG00000156515ENST00000359426p.T419Tc.1257G>ASubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367135p.I67Tc.200T>CSubstitution - Missense
BAP1ENSG00000163930ENST00000460680p.E31Kc.91G>ASubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.T2657Ac.7969A>GSubstitution - Missense
ENST00000377560_v62p.T2907Ac.8719A>GSubstitution - Missense
HPS4ENSG00000100099ENST00000336873p.A339Tc.1015G>ASubstitution - Missense
TBX5ENSG00000089225ENST00000310346p.T223Tc.669G>ASubstitution - coding silent
TBX5ENSG00000089225ENST00000526441p.T223Tc.669G>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.D966Dc.2898C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.R2410Hc.7229G>ASubstitution - Missense
SLC39A10ENSG00000196950ENST00000359634p.D454Dc.1362C>TSubstitution - coding silent
ATG16L1ENSG00000085978ENST00000392017p.A421Ac.1263G>ASubstitution - coding silent
ENST00000334050p.A80Ac.240G>ASubstitution - coding silent
P2RY6ENSG00000171631ENST00000393590p.R100Hc.299G>ASubstitution - Missense
NRG2ENSG00000158458ENST00000361474p.V358Ic.1072G>ASubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.S599Lc.1796C>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.?c.672+1G>TUnknown
ENST00000545858p.?c.393+1G>TUnknown
TP53ENSG00000141510ENST00000269305p.?c.672+1G>TUnknown
TAB3ENSG00000157625ENST00000378933p.Q522Qc.1566A>GSubstitution - coding silent
PRF1ENSG00000180644ENST00000373209p.P210Pc.630C>TSubstitution - coding silent
MS4A4AENSG00000110079ENST00000337908p.A156Vc.467C>TSubstitution - Missense
MS4A4AENSG00000110079ENST00000395016p.A137Vc.410C>TSubstitution - Missense
TRPM7ENSG00000092439ENST00000313478p.V496Ic.1486G>ASubstitution - Missense
CGNL1ENSG00000128849ENST00000281282p.K921Kc.2763G>ASubstitution - coding silent
CHTOPENSG00000160679ENST00000368694p.G129Gc.387C>TSubstitution - coding silent
USP24ENSG00000162402ENST00000294383p.?c.5453+6T>GUnknown
XM_371254.3p.?c.5204+6T>GUnknown
ENST00000228245p.A386Tc.1156G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.G2412Gc.7236G>ASubstitution - coding silent
SU_KSR2p.V300Lc.898G>CSubstitution - Missense
ATP6V0BENSG00000117410ENST00000472174p.I106Ic.318C>TSubstitution - coding silent
NPPAENSG00000175206ENST00000376480p.Q91Rc.272A>GSubstitution - Missense
TET1ENSG00000138336ENST00000373644p.T321Mc.962C>TSubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.R810Lc.2429G>TSubstitution - Missense
SPAG6ENSG00000077327ENST00000376624p.A355Ec.1064C>ASubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.P1027Pc.3081T>CSubstitution - coding silent
SNW1ENSG00000100603ENST00000261531p.?c.168+10G>AUnknown
SHISA9ENSG00000237515ENST00000558318p.S254Ic.761G>TSubstitution - Missense
SHISA9ENSG00000237515ENST00000558583p.P374Ac.1120C>GSubstitution - Missense
TTLL10ENSG00000162571ENST00000379290p.E298*c.892G>TSubstitution - Nonsense
TTLL10ENSG00000162571ENST00000379288p.E225*c.673G>TSubstitution - Nonsense
TAS1R2ENSG00000179002ENST00000375371p.R317Pc.950G>CSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.L3322Pc.9965T>CSubstitution - Missense
XM_372608.1p.R382Qc.1145G>ASubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.H2642Lc.7925A>TSubstitution - Missense
ATMENSG00000149311ENST00000278616p.?c.8419-8A>GUnknown
ATMENSG00000149311ENST00000278616p.?c.8419-8A>GUnknown
CELSR2ENSG00000143126ENST00000271332p.Y2659Yc.7977C>TSubstitution - coding silent
USP28ENSG00000048028ENST00000003302p.?c.622-4A>GUnknown
TMPRSS5ENSG00000166682ENST00000299882p.Q173fs*46c.517delCDeletion - Frameshift
TMPRSS5ENSG00000166682ENST00000299882p.Q173fs*46c.517delCDeletion - Frameshift
CLSTN3ENSG00000139182ENST00000266546p.T241Tc.723C>GSubstitution - coding silent
DYNC2H1ENSG00000187240ENST00000334267p.I60Ic.180C>TSubstitution - coding silent
ARHGAP30ENSG00000186517ENST00000368016p.Q863Qc.2589G>ASubstitution - coding silent
GLB1L2ENSG00000149328ENST00000339772p.P137Rc.410C>GSubstitution - Missense
WASF3ENSG00000132970ENST00000361042p.R464Rc.1392G>ASubstitution - coding silent
RABGAP1LENSG00000152061ENST00000489615p.V39Ec.116T>ASubstitution - Missense
PLD5ENSG00000180287ENST00000366545p.I9Tc.26T>CSubstitution - Missense
RNF17ENSG00000132972ENST00000255324p.P1143Lc.3428C>TSubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.P160Pc.480C>GSubstitution - coding silent
LRP5ENSG00000162337ENST00000294304p.S1550Sc.4650C>TSubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.T2437Tc.7311A>GSubstitution - coding silent
TMCC3ENSG00000057704ENST00000261226p.N201Sc.602A>GSubstitution - Missense
SMC3ENSG00000108055ENST00000361804p.I413Tc.1238T>CSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.D2798Nc.8392G>ASubstitution - Missense
FAM111AENSG00000166801ENST00000528737p.F425fs*6c.1272_1273insAAACTACInsertion - Frameshift
BEST1ENSG00000167995ENST00000449131p.P173Pc.519A>GSubstitution - coding silent
BEST1ENSG00000167995ENST00000378043p.P233Pc.699A>GSubstitution - coding silent
C11orf30ENSG00000158636ENST00000334736p.V578Mc.1732G>ASubstitution - Missense
GPR123ENSG00000197177ENST00000392607p.L290Vc.868C>GSubstitution - Missense
ENST00000368577p.D444Dc.1332C>TSubstitution - coding silent
HTR1DENSG00000179546ENST00000374619p.V43Mc.127G>ASubstitution - Missense
KRT6AENSG00000205420ENST00000330722p.S307Sc.921C>TSubstitution - coding silent
AP3B2ENSG00000103723ENST00000261722p.D726_E727delDEc.2178_2183delTGAGGADeletion - In frame
PPFIA2ENSG00000139220ENST00000549396p.A553Vc.1658C>TSubstitution - Missense
OR6K3ENSG00000203757ENST00000368146p.P8Pc.24A>GSubstitution - coding silent
PEAR1ENSG00000187800ENST00000338302p.P103Pc.309G>ASubstitution - coding silent
TM9SF3ENSG00000077147ENST00000371142p.A557Ac.1671G>ASubstitution - coding silent
IDEENSG00000119912ENST00000265986p.?c.1245+8T>CUnknown
UBE3BENSG00000151148ENST00000434735p.V941Vc.2823C>TSubstitution - coding silent
ANKRD30AENSG00000148513ENST00000361713p.I535Vc.1603A>GSubstitution - Missense
SVILENSG00000197321ENST00000355867p.E1684Dc.5052A>TSubstitution - Missense
IFT81ENSG00000122970ENST00000242591p.V624fs*10c.1865delADeletion - Frameshift
ATP2A2ENSG00000174437ENST00000539276p.T630Tc.1890T>CSubstitution - coding silent
ACACBENSG00000076555ENST00000377848p.R615Qc.1844G>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000264211p.T295Tc.885T>GSubstitution - coding silent
NSUN7ENSG00000179299ENST00000381782p.F339Sc.1016T>CSubstitution - Missense
NSUN7ENSG00000179299ENST00000316607p.F339Sc.1016T>CSubstitution - Missense
PBRM1ENSG00000163939ENST00000356770p.N421Yc.1261A>TSubstitution - Missense
PBRM1ENSG00000163939ENST00000337303p.N453Yc.1357A>TSubstitution - Missense
PBRM1ENSG00000163939ENST00000296302p.N453Yc.1357A>TSubstitution - Missense
KRTAP4-7ENSG00000240871ENST00000391417p.*156Wc.468A>GNonstop extension
ADAM17ENSG00000151694ENST00000310823p.C611Cc.1833T>CSubstitution - coding silent
AMBNENSG00000178522ENST00000322937p.Q213Qc.639A>GSubstitution - coding silent
MAST1ENSG00000105613ENST00000251472p.T615Rc.1844C>GSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.S423Ac.1267T>GSubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.K554Rc.1661A>GSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.R514Qc.1541G>ASubstitution - Missense
SLC38A10ENSG00000157637ENST00000288439p.R184Wc.550C>TSubstitution - Missense
GAAENSG00000171298ENST00000390015p.R74Hc.221G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000320876p.L911Ic.2731T>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.L911Ic.2731T>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.L359Ic.1075T>ASubstitution - Missense
C8orf37ENSG00000156172ENST00000286688p.N90Sc.269A>GSubstitution - Missense
ENST00000290422p.F486Lc.1456T>CSubstitution - Missense
ASPSCR1ENSG00000169696ENST00000580534p.R370Qc.1109G>ASubstitution - Missense
SLC38A10ENSG00000157637ENST00000374759p.R184Wc.550C>TSubstitution - Missense
ENST00000380781p.E527delEc.1579_1581delGAGDeletion - In frame
EQTNENSG00000120160ENST00000380032p.E170Gc.509A>GSubstitution - Missense
ENST00000443737p.D51Ec.153C>GSubstitution - Missense
KIAA0020ENSG00000080608ENST00000397885p.G554Rc.1660G>ASubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.?c.4338+4A>TUnknown
DOCK8ENSG00000107099ENST00000432829p.?c.4134+4A>TUnknown
FRMD4AENSG00000151474ENST00000264546p.?c.1553-5C>TUnknown
PCK1ENSG00000124253ENST00000319441p.E215fs*8c.644_655>TCAGGCTComplex - frameshift
DPM1ENSG00000000419ENST00000371588p.G242Gc.726A>GSubstitution - coding silent
MTG2ENSG00000101181ENST00000370823p.N84Nc.252C>TSubstitution - coding silent
HRCT1ENSG00000196196ENST00000354323p.L27_L28delLLc.64_69delCTGCTGDeletion - In frame
ENST00000343811_v68p.H798fs*4c.2390_2391insTInsertion - Frameshift
RBM12ENSG00000244462ENST00000374104p.N791Dc.2371A>GSubstitution - Missense
NM_004259.4p.T648Mc.1943C>TSubstitution - Missense
ENST00000293218_v68p.V42fs*23c.124_125insGInsertion - Frameshift
TRIM16ENSG00000221926ENST00000578237p.R271Tc.812G>CSubstitution - Missense
ZMAT1ENSG00000166432ENST00000372782p.H425Hc.1275C>TSubstitution - coding silent
NM_032441.1p.H254Hc.762C>TSubstitution - coding silent
MYO1BENSG00000128641ENST00000339514p.?c.252-9C>AUnknown
WDR75ENSG00000115368ENST00000314761p.L800Lc.2400A>GSubstitution - coding silent
WDR44ENSG00000131725ENST00000254029p.T296Tc.888G>ASubstitution - coding silent
ENST00000331986p.P1174Pc.3522C>TSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.T4521Ac.13561A>GSubstitution - Missense
DYTNENSG00000232125ENST00000452335p.A564Tc.1690G>ASubstitution - Missense
MYO1BENSG00000128641ENST00000392318p.?c.252-9C>AUnknown
TBX21ENSG00000073861ENST00000177694p.D277Dc.831C>TSubstitution - coding silent
SP6ENSG00000189120ENST00000342234p.S199Sc.597T>ASubstitution - coding silent
PSMF1ENSG00000125818ENST00000335877p.R156Qc.467G>ASubstitution - Missense
RICTORENSG00000164327ENST00000296782p.A976Dc.2927C>ASubstitution - Missense
EFCAB13ENSG00000178852ENST00000331493p.I253Vc.757A>GSubstitution - Missense
PAQR5ENSG00000137819ENST00000395407p.E329Gc.986A>GSubstitution - Missense
DENND4AENSG00000174485ENST00000431932p.N1255Nc.3765T>CSubstitution - coding silent
DIS3LENSG00000166938ENST00000319212p.D537Vc.1610A>TSubstitution - Missense
DIS3LENSG00000166938ENST00000319194p.D454Vc.1361A>TSubstitution - Missense
UPF3AENSG00000169062ENST00000375299p.L226Lc.676T>CSubstitution - coding silent
SPACA7ENSG00000153498ENST00000283550p.N123Nc.369T>CSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.E1339Kc.4015G>ASubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.F924Cc.2771T>GSubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.T317Tc.951G>ASubstitution - coding silent
SERPINA12ENSG00000165953ENST00000556881p.V36Fc.106G>TSubstitution - Missense
HIF1AENSG00000100644ENST00000337138p.L169fs*9c.498_499insTInsertion - Frameshift
DDX47ENSG00000213782ENST00000358007p.V224Mc.670G>ASubstitution - Missense
SCAMP3ENSG00000116521ENST00000302631p.S15Sc.45C>TSubstitution - coding silent
CUL7ENSG00000044090ENST00000265348p.E1376delEc.4126_4128delGAGDeletion - In frame
TBCCENSG00000124659ENST00000372876p.T209Nc.626C>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.P259Pc.777A>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.G353Sc.1057G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.S428Yc.1283C>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.M475Vc.1423A>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.H1717Hc.5151C>TSubstitution - coding silent
MAPK12ENSG00000188130ENST00000215659p.D91Dc.273C>TSubstitution - coding silent
ENST00000438835p.D91Dc.273C>TSubstitution - coding silent
MLC1ENSG00000100427ENST00000395876p.T17Tc.51G>ASubstitution - coding silent
STK38ENSG00000112079ENST00000229812p.Q190fs*4c.570delGDeletion - Frameshift
GIGYF2ENSG00000204120ENST00000409451p.Q1237_P1238insQc.3696_3697insCAGInsertion - In frame
GIGYF2ENSG00000204120ENST00000373563p.Q1216_P1217insQc.3633_3634insCAGInsertion - In frame
ALPIENSG00000163295ENST00000295463p.A275Ac.825G>ASubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000409202p.T452Tc.1356A>GSubstitution - coding silent
TMEM17ENSG00000186889ENST00000335390p.D177Gc.530A>GSubstitution - Missense
PELI1ENSG00000197329ENST00000358912p.R331Hc.992G>ASubstitution - Missense
MBD4ENSG00000129071ENST00000249910p.P28Pc.84A>GSubstitution - coding silent
ISY1ENSG00000240682ENST00000393295p.?c.187+1G>AUnknown
RQCD1ENSG00000144580ENST00000273064p.E285Gc.854A>GSubstitution - Missense
OLIG3ENSG00000177468ENST00000367734p.M20Lc.58A>CSubstitution - Missense
SASH1ENSG00000111961ENST00000367467p.E358Dc.1074G>CSubstitution - Missense
GRM6ENSG00000113262ENST00000231188p.R527Wc.1579C>TSubstitution - Missense
NAGKENSG00000124357ENST00000244204p.?c.115-10T>CUnknown
SEPT10ENSG00000186522ENST00000397714p.S411Pc.1231T>CSubstitution - Missense
SLC35A2ENSG00000102100ENST00000445167p.C156Rc.466T>CSubstitution - Missense
SLC35A2ENSG00000102100ENST00000376529p.C156Rc.466T>CSubstitution - Missense
OTTHUMT00000056248.1p.N2267Ic.6800A>TSubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.P642Pc.1926G>ASubstitution - coding silent
GRIN2CENSG00000161509ENST00000293190p.T644Tc.1932G>ASubstitution - coding silent
GRIN2CENSG00000161509ENST00000293190p.T644Tc.1932G>ASubstitution - coding silent
FAM47BENSG00000189132ENST00000329357p.H396Yc.1186C>TSubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.H680Qc.2040C>ASubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.P631Rc.1892C>GSubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.P598Rc.1793C>GSubstitution - Missense
GOT1L1ENSG00000169154ENST00000307599p.Y363fs*26c.1088delADeletion - Frameshift
CAMK1ENSG00000134072ENST00000256460p.T331Mc.992C>TSubstitution - Missense
KIAA0226ENSG00000145016ENST00000296343p.A713Ac.2139C>TSubstitution - coding silent
BDH2ENSG00000164039ENST00000296424p.E216Ec.648A>GSubstitution - coding silent
TTC28ENSG00000100154ENST00000397906p.K158Rc.473A>GSubstitution - Missense
ZNF613ENSG00000176024ENST00000293471p.L331Vc.991C>GSubstitution - Missense
ZNF432ENSG00000256087ENST00000221315p.E11Dc.33G>CSubstitution - Missense
ZNF611ENSG00000213020ENST00000319783p.I31Vc.91A>GSubstitution - Missense
HADHBENSG00000138029ENST00000317799p.R33Qc.98G>ASubstitution - Missense
ZNF778ENSG00000170100ENST00000306502p.M196Vc.586A>GSubstitution - Missense
GLIS2ENSG00000126603ENST00000262366p.N217Nc.651C>TSubstitution - coding silent
NCOA1ENSG00000084676ENST00000406961p.R1029Qc.3086G>ASubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.A371Ac.1113G>ASubstitution - coding silent
ANO7ENSG00000146205ENST00000274979p.P754Pc.2262G>CSubstitution - coding silent
PGAP1ENSG00000197121ENST00000354764p.N807Nc.2421C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.?c.27946+10T>CUnknown
ENST00000356127p.?c.27946+10T>CUnknown
DIP2AENSG00000160305ENST00000417564p.A1170Tc.3508G>ASubstitution - Missense
POTEHENSG00000198062ENST00000343518p.P168Lc.503C>TSubstitution - Missense
BAP1ENSG00000163930ENST00000460680p.I586Vc.1756A>GSubstitution - Missense
ENST00000273600p.S849Rc.2547C>GSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.Y1856Yc.5568C>TSubstitution - coding silent
ENST00000242365_v65p.Y1806Yc.5418C>TSubstitution - coding silent
FAM65BENSG00000111913ENST00000378023p.?c.360+6T>CUnknown
HEPACAM2ENSG00000188175ENST00000394468p.H58Pc.173A>CSubstitution - Missense
C7orf63ENSG00000105792ENST00000316089p.I17Vc.49A>GSubstitution - Missense
APPENSG00000142192ENST00000346798p.G611Gc.1833A>GSubstitution - coding silent
LTN1ENSG00000198862ENST00000361371p.T1553Kc.4658C>ASubstitution - Missense
KRT35ENSG00000197079ENST00000393989p.N201Nc.603C>TSubstitution - coding silent
ZNF3ENSG00000166526ENST00000413658p.L90Lc.268C>TSubstitution - coding silent
KELENSG00000197993ENST00000355265p.G480Gc.1440G>ASubstitution - coding silent
COG5ENSG00000164597ENST00000297135p.R47Rc.141A>CSubstitution - coding silent
NOS3ENSG00000164867ENST00000297494p.S453Sc.1359G>ASubstitution - coding silent
NOBOXENSG00000106410ENST00000467773p.?c.211-1G>AUnknown
NOBOXENSG00000106410ENST00000223140p.?c.211-1G>AUnknown
ABCA13ENSG00000179869ENST00000435803p.Q1005*c.3013C>TSubstitution - Nonsense
CD74ENSG00000019582ENST00000009530p.G267Rc.799G>ASubstitution - Missense
DDR1ENSG00000204580ENST00000324771p.P43Tc.127C>ASubstitution - Missense
KMT2EENSG00000005483ENST00000257745p.E827Gc.2480A>GSubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.R235Sc.703C>ASubstitution - Missense
GALNT10ENSG00000164574ENST00000425427p.H132Yc.394C>TSubstitution - Missense
ATP11CENSG00000101974ENST00000361648p.P958Sc.2872C>TSubstitution - Missense
MRPS24ENSG00000062582ENST00000317534p.H72Qc.216C>ASubstitution - Missense
EPDR1ENSG00000086289ENST00000559325p.C233Cc.699C>TSubstitution - coding silent
ENSG00000183760ENST00000331256p.N146Kc.438C>ASubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.R30Sc.88C>ASubstitution - Missense
RPL22L1ENSG00000163584ENST00000295830p.?c.9+7G>CUnknown
SETXENSG00000107290ENST00000224140p.T1069Tc.3207T>ASubstitution - coding silent
DIAPH1ENSG00000131504ENST00000398557p.A1245Tc.3733G>ASubstitution - Missense
TAF15ENSG00000172660ENST00000311979p.C365Cc.1095C>TSubstitution - coding silent
CA4ENSG00000167434ENST00000300900p.K145Kc.435A>GSubstitution - coding silent
ZNF260ENSG00000254004ENST00000523638p.H158Hc.474T>CSubstitution - coding silent
PTPRKENSG00000152894ENST00000368213p.T470Ic.1409C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.T470Ic.1409C>TSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.P1111Pc.3333T>ASubstitution - coding silent
ERLEC1ENSG00000068912ENST00000185150p.Q456Qc.1368A>GSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.?c.5809+3G>AUnknown
NCOA7ENSG00000111912ENST00000368357p.H856Hc.2568C>TSubstitution - coding silent
TBC1D32ENSG00000146350ENST00000398212p.E130Ec.390A>GSubstitution - coding silent
LCA5ENSG00000135338ENST00000392959p.N113Sc.338A>GSubstitution - Missense
HBS1LENSG00000112339ENST00000367822p.D176Gc.527A>GSubstitution - Missense
ARHGAP28ENSG00000088756ENST00000314319p.P480Pc.1440G>ASubstitution - coding silent
ARHGAP28ENSG00000088756ENST00000400091p.P639Pc.1917G>ASubstitution - coding silent
DSELENSG00000171451ENST00000310045p.D413Dc.1239T>CSubstitution - coding silent
EP300ENSG00000100393ENST00000263253p.?c.730-10T>CUnknown
CYTH4ENSG00000100055ENST00000248901p.R170Qc.509G>ASubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.E822*c.2464G>TSubstitution - Nonsense
TNIP2ENSG00000168884ENST00000315423p.V202Vc.606T>GSubstitution - coding silent
NOP14ENSG00000087269ENST00000314262p.D142Ec.426C>GSubstitution - Missense
KAL1ENSG00000011201ENST00000262648p.Y673Hc.2017T>CSubstitution - Missense
GUCY1A3ENSG00000164116ENST00000296518p.A680Tc.2038G>ASubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.P748Pc.2244G>CSubstitution - coding silent
SMIM20ENSG00000250317ENST00000506197p.R44Rc.132G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.I557Vc.1669A>GSubstitution - Missense
NAA50ENSG00000121579ENST00000240922p.?c.333-8T>CUnknown
DDX49ENSG00000105671ENST00000247003p.C265Yc.794G>ASubstitution - Missense
ATRXENSG00000085224ENST00000373344p.F1764Fc.5292T>CSubstitution - coding silent
ZCCHC5ENSG00000179300ENST00000321110p.D146Dc.438T>CSubstitution - coding silent
GPR174ENSG00000147138ENST00000276077p.R268Sc.804G>CSubstitution - Missense
TBX22ENSG00000122145ENST00000373296p.T378Sc.1132A>TSubstitution - Missense
OGTENSG00000147162ENST00000373701p.E91Gc.272A>GSubstitution - Missense
NM_138737.1p.Y698Hc.2092T>CSubstitution - Missense
DMPKENSG00000104936ENST00000343373p.?c.462+10G>AUnknown
DMPKENSG00000104936ENST00000291270p.?c.432+10G>AUnknown
SYMPKENSG00000125755ENST00000245934p.A499Ac.1497C>TSubstitution - coding silent
TBL2ENSG00000106638ENST00000305632p.N421delNc.1261_1263delAACDeletion - In frame
POM121ENSG00000196313ENST00000257622p.A739_A740insPAc.2216_2217insCCCGGCInsertion - In frame
POM121ENSG00000196313ENST00000395270p.A739_A740insPAc.2216_2217insCCCGGCInsertion - In frame
RABGEF1ENSG00000154710ENST00000510829p.?c.513+10G>CUnknown
FAM220AENSG00000178397ENST00000313324p.A18Ac.54C>TSubstitution - coding silent
XM_377014.1p.I106Ic.318C>TSubstitution - coding silent
SAPCD2ENSG00000186193ENST00000409687p.?c.1057-3C>TUnknown
MAST4ENSG00000069020ENST00000405643p.P1642Lc.4925C>TSubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.Q1439Qc.4317G>ASubstitution - coding silent
ENST00000409172p.L114Rc.341T>GSubstitution - Missense
DLL1ENSG00000198719ENST00000366756p.T610Tc.1830G>ASubstitution - coding silent
ANKRD35ENSG00000198483ENST00000355594p.?c.170+1G>AUnknown
VPS13CENSG00000129003ENST00000261517p.T317Tc.951G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.E1538Kc.4612G>ASubstitution - Missense
FAM189BENSG00000160767ENST00000361361p.R539Lc.1616G>TSubstitution - Missense
ENST00000300671p.?c.918+4C>TUnknown
ARHGEF9ENSG00000131089ENST00000374878p.I106Ic.318C>TSubstitution - coding silent
CDHR5ENSG00000099834ENST00000358353p.P229Pc.687C>TSubstitution - coding silent
SETXENSG00000107290ENST00000372169p.T1069Tc.3207T>ASubstitution - coding silent
COL4A5ENSG00000188153ENST00000328300p.G606Wc.1816G>TSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000396257p.S218Nc.653G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.S4888Cc.14663C>GSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.A244Ec.731C>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.P402Pc.1206A>GSubstitution - coding silent
MICAL1ENSG00000135596ENST00000368952p.R935Cc.2803C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.T470Ic.1409C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.P1627Lc.4880C>TSubstitution - Missense
SMIM3ENSG00000256235ENST00000526627p.L38Vc.112T>GSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.G496Sc.1486G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.M618Vc.1852A>GSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T776Tc.2328A>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.T1810Sc.5429C>GSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.H1860Hc.5580C>TSubstitution - coding silent
FAM65BENSG00000111913ENST00000538035p.?c.447+6T>CUnknown
KIAA0226ENSG00000145016ENST00000389665p.A738Ac.2214C>TSubstitution - coding silent
CTCFLENSG00000124092ENST00000423479p.G579Rc.1735G>CSubstitution - Missense
ENST00000310397_v70p.A371Ac.1113G>ASubstitution - coding silent
NOP14ENSG00000087269ENST00000398071p.D142Ec.426C>GSubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.D710Dc.2130T>CSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.?c.918+4C>TUnknown
RECQL5ENSG00000108469ENST00000317905p.T675Ic.2024C>TSubstitution - Missense
MAST3ENSG00000099308ENST00000262811p.S50Sc.150G>ASubstitution - coding silent
DDX49ENSG00000105671ENST00000438170p.C158Yc.473G>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000356916p.T421Tc.1263T>GSubstitution - coding silent
HK1ENSG00000156515ENST00000360289p.T407Tc.1221G>ASubstitution - coding silent
OR8K1ENSG00000150261ENST00000279783p.F164Ic.490T>ASubstitution - Missense
FOLH1ENSG00000086205ENST00000256999p.L528Lc.1584T>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.?c.672+1G>TUnknown
ZNF438ENSG00000183621ENST00000452305p.T81Ic.242C>TSubstitution - Missense
CLCN2ENSG00000114859ENST00000265593p.D894Ec.2682C>ASubstitution - Missense
FSTL5ENSG00000168843ENST00000306100p.H232Nc.694C>ASubstitution - Missense
CEP72ENSG00000112877ENST00000264935p.G436Sc.1306G>ASubstitution - Missense
ESM1ENSG00000164283ENST00000381405p.G159Cc.475G>TSubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.R1308Hc.3923G>ASubstitution - Missense
ATP13A3ENSG00000133657ENST00000256031p.L46Hc.137T>ASubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.G686Gc.2058G>CSubstitution - coding silent
PI4KAENSG00000241973ENST00000572273p.C435Cc.1305C>TSubstitution - coding silent
SNX13ENSG00000071189ENST00000428135p.T70Ac.208A>GSubstitution - Missense
RBMS1ENSG00000153250ENST00000348849p.P11Pc.33T>GSubstitution - coding silent
ENST00000392753_v71p.P11Pc.33T>GSubstitution - coding silent
IFIH1ENSG00000115267ENST00000263642p.L35Lc.103C>TSubstitution - coding silent
CDH22ENSG00000149654ENST00000372262p.R136Wc.406C>TSubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.M475Kc.1424T>ASubstitution - Missense
ZNF404ENSG00000176222ENST00000587539p.G139Gc.417C>TSubstitution - coding silent
ZNF404ENSG00000176222ENST00000324394p.G137Gc.411C>TSubstitution - coding silent
ZNF234ENSG00000263002ENST00000426739p.Q133*c.397C>TSubstitution - Nonsense
ZNF112ENSG00000062370ENST00000337401p.E556Kc.1666G>ASubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.E556Kc.1666G>ASubstitution - Missense
ENST00000316490p.E4178Gc.12533A>GSubstitution - Missense
ENST00000319379p.Q950*c.2848C>TSubstitution - Nonsense
ADCY1ENSG00000164742ENST00000297323p.K1117Kc.3351G>ASubstitution - coding silent
C8orf74ENSG00000171060ENST00000304519p.R99Rc.297G>TSubstitution - coding silent
MXD1ENSG00000059728ENST00000264444p.D42Gc.125A>GSubstitution - Missense
MARCH7ENSG00000136536ENST00000259050p.I12Tc.35T>CSubstitution - Missense
NPNTENSG00000168743ENST00000379987p.P181Lc.542C>TSubstitution - Missense
PCYT2ENSG00000185813ENST00000538936p.A247Ac.741G>ASubstitution - coding silent
MROH8ENSG00000101353ENST00000343811p.H798fs*4c.2390_2391insTInsertion - Frameshift
SIPA1L2ENSG00000116991ENST00000366630p.R944Kc.2831G>ASubstitution - Missense
COL4A5ENSG00000188153ENST00000361603p.G606Wc.1816G>TSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000396259p.S218Nc.653G>ASubstitution - Missense
HEPHENSG00000089472ENST00000519389p.Y752Hc.2254T>CSubstitution - Missense
ENST00000451649p.L152Vc.454C>GSubstitution - Missense
ZNF628ENSG00000197483ENST00000598519p.P646Pc.1938G>ASubstitution - coding silent
PCK1ENSG00000124253ENST00000535860p.E83fs*8c.248_259>TCAGGCTComplex - frameshift
ZMAT3ENSG00000172667ENST00000311417p.E202Ec.606G>ASubstitution - coding silent
RASL11BENSG00000128045ENST00000248706p.C100Fc.299G>TSubstitution - Missense
ACTN4ENSG00000130402ENST00000252699p.D581Nc.1741G>ASubstitution - Missense
NCOA1ENSG00000084676ENST00000405141p.R1029Qc.3086G>ASubstitution - Missense
WNT7BENSG00000188064ENST00000339464p.K349Kc.1047G>ASubstitution - coding silent
TSTENSG00000128311ENST00000249042p.V152Fc.454G>TSubstitution - Missense
SMPD2ENSG00000135587ENST00000258052p.D171Dc.513C>TSubstitution - coding silent
DDX49ENSG00000105671ENST00000247003p.C265Cc.795C>TSubstitution - coding silent
ARHGEF9ENSG00000131089ENST00000253401p.I108Ic.324C>TSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.D879Dc.2637T>CSubstitution - coding silent
PAX9ENSG00000198807ENST00000402703p.L11Lc.33G>TSubstitution - coding silent
KIAA1551ENSG00000174718ENST00000312561p.M429Vc.1285A>GSubstitution - Missense
ENST00000435384p.T296Tc.888G>ASubstitution - coding silent
KLENSG00000133116ENST00000380099p.A249Ac.747C>TSubstitution - coding silent
LRP4ENSG00000134569ENST00000378623p.G870Dc.2609G>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.E922Dc.2766G>TSubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.Y755fs*1c.2265delCDeletion - Frameshift
CYP2C9ENSG00000138109ENST00000260682p.R124Qc.371G>ASubstitution - Missense
ENST00000316490_v65p.F4154Fc.12462C>TSubstitution - coding silent
ENST00000325845p.R36Cc.106C>TSubstitution - Missense
CTNSENSG00000040531ENST00000381870p.R367Hc.1100G>ASubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.M475Kc.1424T>ASubstitution - Missense
ARL5AENSG00000162980ENST00000295087p.S174Sc.522A>GSubstitution - coding silent
SULT2B1ENSG00000088002ENST00000201586p.R93Lc.278G>TSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.R1210Gc.3628A>GSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.S984Rc.2950A>CSubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.Q1421Qc.4263G>ASubstitution - coding silent
NM_133638.1p.?c.3472+6C>TUnknown
ATRXENSG00000085224ENST00000373344p.F1764Fc.5292T>CSubstitution - coding silent
BAG1ENSG00000107262ENST00000472232p.R88Lc.263G>TSubstitution - Missense
SLC25A38ENSG00000144659ENST00000273158p.R54Cc.160C>TSubstitution - Missense
SEPT10ENSG00000186522ENST00000397712p.S434Pc.1300T>CSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.S1036Ic.3107G>TSubstitution - Missense
MROH8ENSG00000101353ENST00000400441p.H771fs*4c.2310_2311insTInsertion - Frameshift
CHST8ENSG00000124302ENST00000262622p.I222Mc.666C>GSubstitution - Missense
CUL4BENSG00000158290ENST00000371322p.D57Ec.171C>GSubstitution - Missense
OSGIN1ENSG00000140961ENST00000343939p.A383Tc.1147G>ASubstitution - Missense
TEX26ENSG00000175664ENST00000380473p.Q258*c.772C>TSubstitution - Nonsense
MCTP2ENSG00000140563ENST00000357742p.R204Qc.611G>ASubstitution - Missense
RICTORENSG00000164327ENST00000357387p.A976Dc.2927C>ASubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.S880Lc.2639C>TSubstitution - Missense
ATP11CENSG00000101974ENST00000327569p.P958Sc.2872C>TSubstitution - Missense
SLC45A1ENSG00000162426ENST00000377479p.K338Kc.1014G>ASubstitution - coding silent
KSR2ENSG00000171435ENST00000339824p.V268Lc.802G>CSubstitution - Missense
SLC35A2ENSG00000102100ENST00000376515p.C132Rc.394T>CSubstitution - Missense
TRIM10ENSG00000204613ENST00000376704p.H365Nc.1093C>ASubstitution - Missense
NSDHLENSG00000147383ENST00000370274p.P209Pc.627G>ASubstitution - coding silent
RHEBENSG00000106615ENST00000262187p.Y35delYc.103_105delTACDeletion - In frame
CHMP2AENSG00000130724ENST00000312547p.A200Ac.600C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.S4745Cc.14234C>GSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.V726Vc.2178G>CSubstitution - coding silent
STK11IPENSG00000144589ENST00000295641p.V726Vc.2178G>CSubstitution - coding silent
GJB4ENSG00000189433ENST00000339480p.R98Cc.292C>TSubstitution - Missense
TLL1ENSG00000038295ENST00000061240p.G783Gc.2349C>TSubstitution - coding silent
LCE3EENSG00000185966ENST00000368789p.E49Kc.145G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.S571Yc.1712C>ASubstitution - Missense
HK1ENSG00000156515ENST00000298649p.T418Tc.1254G>ASubstitution - coding silent
PALB2ENSG00000083093ENST00000261584p.L961Lc.2881C>TSubstitution - coding silent
BCKDHAENSG00000248098ENST00000269980p.L33Mc.97C>ASubstitution - Missense
PPP1R13LENSG00000104881ENST00000360957p.?c.812-3C>TUnknown
PLEKHA8ENSG00000106086ENST00000258679p.S218Nc.653G>ASubstitution - Missense
HAUS3ENSG00000214367ENST00000243706p.L58Lc.172T>CSubstitution - coding silent
TRIM10ENSG00000204613ENST00000449742p.H365Nc.1093C>ASubstitution - Missense
DDR1ENSG00000204580ENST00000418800p.P374Pc.1122G>ASubstitution - coding silent
RAD18ENSG00000070950ENST00000264926p.K17Nc.51G>CSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.N90Kc.270C>ASubstitution - Missense
OTOP3ENSG00000182938ENST00000328801p.R495Rc.1485C>ASubstitution - coding silent
ZNF804AENSG00000170396ENST00000302277p.I207Vc.619A>GSubstitution - Missense
CC2D2BENSG00000188649ENST00000344386p.L152Vc.454C>GSubstitution - Missense
CSNK1A1LENSG00000180138ENST00000379800p.G6Sc.16G>ASubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.D3040fs*130c.9120delCDeletion - Frameshift
RSL1D1ENSG00000171490ENST00000571133p.K51Nc.153A>CSubstitution - Missense
PSMF1ENSG00000125818ENST00000246015p.R156Qc.467G>ASubstitution - Missense
NISCHENSG00000010322ENST00000488380p.S246fs*15c.735_736delGADeletion - Frameshift
HK1ENSG00000156515ENST00000404387p.T423Tc.1269G>ASubstitution - coding silent
ZFHX3ENSG00000140836ENST00000268489p.M1476Ic.4428G>ASubstitution - Missense
SYT14ENSG00000143469ENST00000422431p.G183Ec.548G>ASubstitution - Missense
NCOA7ENSG00000111912ENST00000438495p.H151Yc.451C>TSubstitution - Missense
NCOA7ENSG00000111912ENST00000433571p.H166Hc.498C>TSubstitution - coding silent
DDR1ENSG00000204580ENST00000376575p.P374Pc.1122G>ASubstitution - coding silent
DGKGENSG00000058866ENST00000265022p.Q43Kc.127C>ASubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.G597fs*6c.1784delCDeletion - Frameshift
ECSITENSG00000130159ENST00000270517p.R124Qc.371G>ASubstitution - Missense
ADCY9ENSG00000162104ENST00000294016p.G602Cc.1804G>TSubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.A1170Tc.3508G>ASubstitution - Missense
LILRA1ENSG00000104974ENST00000251372p.D434Dc.1302T>CSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.L3322Pc.9965T>CSubstitution - Missense
AJAP1ENSG00000196581ENST00000378190p.?c.30-8C>GUnknown
RABGEF1ENSG00000154710ENST00000437078p.?c.555+10G>CUnknown
CROCCENSG00000058453ENST00000375541p.?c.196+7C>TUnknown
ZNF112ENSG00000062370ENST00000536500p.E573Kc.1717G>ASubstitution - Missense
OTOAENSG00000155719ENST00000388957p.E463*c.1387G>TSubstitution - Nonsense
TBC1D10AENSG00000099992ENST00000215790p.R105Cc.313C>TSubstitution - Missense
MAP9ENSG00000164114ENST00000311277p.R466Ic.1397G>TSubstitution - Missense
WFS1ENSG00000109501ENST00000226760p.A134Ac.402G>ASubstitution - coding silent
DDR1ENSG00000204580ENST00000324771p.P374Pc.1122G>ASubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000409220p.T445Tc.1335A>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.A101Ec.302C>ASubstitution - Missense
SLCO6A1ENSG00000205359ENST00000379807p.L623Fc.1869G>CSubstitution - Missense
SULT2B1ENSG00000088002ENST00000323090p.R78Lc.233G>TSubstitution - Missense
UNC13BENSG00000198722ENST00000378495p.S1541Tc.4622G>CSubstitution - Missense
CDK5RAP1ENSG00000101391ENST00000346416p.K382Ec.1144A>GSubstitution - Missense
C7orf63ENSG00000105792ENST00000389297p.I17Vc.49A>GSubstitution - Missense
USP9XENSG00000124486ENST00000324545p.N2274Ic.6821A>TSubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.R214Mc.641G>TSubstitution - Missense
LRFN4ENSG00000173621ENST00000309602p.R158Pc.473G>CSubstitution - Missense
ERI2ENSG00000196678ENST00000357967p.Q101fs*5c.299_300insAInsertion - Frameshift
XM_031689.7p.A3107Ac.9321C>TSubstitution - coding silent
CH25HENSG00000138135ENST00000371852p.H225Yc.673C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.A519Ac.1557G>CSubstitution - coding silent
IGSF9BENSG00000080854ENST00000321016p.T64Tc.192T>CSubstitution - coding silent
NM_058004.1p.G686Gc.2058G>CSubstitution - coding silent
ENST00000316490p.F4106Fc.12318C>TSubstitution - coding silent
PPFIA2ENSG00000139220ENST00000333447p.A535Vc.1604C>TSubstitution - Missense
TM6SF2ENSG00000213996ENST00000389363p.A50Ac.150G>ASubstitution - coding silent
TRIM74ENSG00000155428ENST00000285805p.K24Rc.71A>GSubstitution - Missense
TGFB1ENSG00000105329ENST00000221930p.I300Vc.898A>GSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.R235Sc.703C>ASubstitution - Missense
CDSNENSG00000204539ENST00000376288p.L176Lc.528G>ASubstitution - coding silent
ANKRD53ENSG00000144031ENST00000360589p.R334_A337delRATAc.997_1008del12Deletion - In frame
KIAA0226ENSG00000145016ENST00000273582p.A668Ac.2004C>TSubstitution - coding silent
TRAPPC12ENSG00000171853ENST00000382110p.P108Pc.324G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.T633Tc.1899A>TSubstitution - coding silent
CYB5R3ENSG00000100243ENST00000361740p.L55Lc.165G>ASubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.D1818Nc.5452G>ASubstitution - Missense
PRDM13ENSG00000112238ENST00000369214p.V709Fc.2125G>TSubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.K554Rc.1661A>GSubstitution - Missense
SHANK1ENSG00000161681ENST00000391813p.V1299Ic.3895G>ASubstitution - Missense
ENST00000331807p.E281Kc.841G>ASubstitution - Missense
ENST00000327553p.I59Tc.176T>CSubstitution - Missense
AKR1E2ENSG00000165568ENST00000298375p.P266Pc.798C>TSubstitution - coding silent
RBMXL3ENSG00000175718ENST00000424776p.G369Cc.1105G>TSubstitution - Missense
ALG8ENSG00000159063ENST00000299626p.?c.898+4T>CUnknown
ENST00000368577p.L1009Vc.3025C>GSubstitution - Missense
TEX26ENSG00000175664ENST00000380473p.C114Rc.340T>CSubstitution - Missense
MTORENSG00000198793ENST00000361445p.W1304Rc.3910T>CSubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.D830Dc.2490C>TSubstitution - coding silent
UNC13BENSG00000198722ENST00000396787p.S1572Tc.4715G>CSubstitution - Missense
SYTL4ENSG00000102362ENST00000372981p.L223Pc.668T>CSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.R235Sc.703C>ASubstitution - Missense
NUDCD1ENSG00000120526ENST00000239690p.V529Ac.1586T>CSubstitution - Missense
DDR1ENSG00000204580ENST00000418800p.P43Tc.127C>ASubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.N2064Hc.6190A>CSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.N2039Hc.6115A>CSubstitution - Missense
CPEB4ENSG00000113742ENST00000265085p.?c.1781-7_1782deltaattagTGUnknown
MAGI2ENSG00000187391ENST00000354212p.P908Hc.2723C>ASubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.R208Pc.623G>CSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.R866Wc.2596C>TSubstitution - Missense
ZBTB20ENSG00000181722ENST00000474710p.A40Gc.119C>GSubstitution - Missense
PCDH12ENSG00000113555ENST00000231484p.E1082Qc.3244G>CSubstitution - Missense
NPY2RENSG00000185149ENST00000329476p.G216Sc.646G>ASubstitution - Missense
TECRENSG00000099797ENST00000215567p.F258Fc.774C>TSubstitution - coding silent
CCM2LENSG00000101331ENST00000300415p.G364Rc.1090G>CSubstitution - Missense
FAM179AENSG00000189350ENST00000379558p.R892Hc.2675G>ASubstitution - Missense
GRM8ENSG00000179603ENST00000339582p.Y755fs*1c.2265delCDeletion - Frameshift
CUL4BENSG00000158290ENST00000404115p.D75Ec.225C>GSubstitution - Missense
KRT25ENSG00000204897ENST00000312150p.P16Pc.48C>TSubstitution - coding silent
AFPENSG00000081051ENST00000395792p.L71Lc.213G>ASubstitution - coding silent
HELZENSG00000198265ENST00000358691p.T516Tc.1548A>GSubstitution - coding silent
ENST00000321016_v61p.T608Tc.1824T>CSubstitution - coding silent
GJB2ENSG00000165474ENST00000382844p.R127Cc.379C>TSubstitution - Missense
ANAPC16ENSG00000166295ENST00000299381p.T37Tc.111C>TSubstitution - coding silent
NM_058004.1p.C435Cc.1305C>TSubstitution - coding silent
IFIH1ENSG00000115267ENST00000421365p.L35Lc.103C>TSubstitution - coding silent
ATP11CENSG00000101974ENST00000370543p.P958Sc.2872C>TSubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.P1632Lc.4895C>TSubstitution - Missense
SU_MAST3p.S72Sc.216G>ASubstitution - coding silent
DDR1ENSG00000204580ENST00000376575p.P43Tc.127C>ASubstitution - Missense
ENST00000532298_v68p.R51Cc.151C>TSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.S344Sc.1032A>GSubstitution - coding silent
ZSCAN5DENSG00000267908ENST00000600684p.N104Nc.312C>TSubstitution - coding silent
VHLENSG00000134086ENST00000256474p.S168fs*5c.503_505GCC>AComplex - frameshift
MYH7BENSG00000078814ENST00000262873p.S93Sc.279G>ASubstitution - coding silent
ZNF778ENSG00000170100ENST00000433976p.M238Vc.712A>GSubstitution - Missense
ZSWIM5ENSG00000162415ENST00000359600p.L946Lc.2838G>ASubstitution - coding silent
FRMD5ENSG00000171877ENST00000417257p.P432Sc.1294C>TSubstitution - Missense
PPP1R15BENSG00000158615ENST00000367188p.F25Yc.74T>ASubstitution - Missense
TM4SF5ENSG00000142484ENST00000270560p.?c.177+3G>AUnknown
ZNF408ENSG00000175213ENST00000311764p.P235Rc.704C>GSubstitution - Missense
ADAMTS4ENSG00000158859ENST00000367996p.R696Sc.2088G>TSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.S423Ac.1267T>GSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.N90Kc.270C>ASubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.V3117Ic.9349G>ASubstitution - Missense
HOXB3ENSG00000120093ENST00000311626p.P284Sc.850C>TSubstitution - Missense
OR2T2ENSG00000196240ENST00000342927p.V127Mc.379G>ASubstitution - Missense
RFWD3ENSG00000168411ENST00000361070p.M487Lc.1459A>CSubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.F924Cc.2771T>GSubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.T615Rc.1844C>GSubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.?c.1980+3A>GUnknown
PRSS58ENSG00000258223ENST00000547058p.E85Kc.253G>ASubstitution - Missense
MGPENSG00000111341ENST00000539261p.P64Pc.192T>CSubstitution - coding silent
HAO2ENSG00000116882ENST00000325945p.?c.132-8_132-1CGGCACAG>AUnknown
ADAMTS4ENSG00000158859ENST00000367996p.R696Sc.2088G>TSubstitution - Missense
EPXENSG00000121053ENST00000225371p.T379Tc.1137G>ASubstitution - coding silent
OTOAENSG00000155719ENST00000388958p.E787*c.2359G>TSubstitution - Nonsense
PDE3AENSG00000172572ENST00000359062p.L711Vc.2131C>GSubstitution - Missense
FCRL2ENSG00000132704ENST00000469986p.L190Lc.568C>TSubstitution - coding silent
SYT14ENSG00000143469ENST00000472886p.G138Ec.413G>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000374937p.T301Tc.903T>GSubstitution - coding silent
CYP17A1ENSG00000148795ENST00000369887p.V173Mc.517G>ASubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.G597fs*6c.1784delCDeletion - Frameshift
EPB41L3ENSG00000082397ENST00000542146p.D184Dc.552T>CSubstitution - coding silent
PTPN4ENSG00000088179ENST00000263708p.H482Rc.1445A>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.?c.5689+3G>AUnknown
PRDM13ENSG00000112238ENST00000369215p.V699Fc.2095G>TSubstitution - Missense
ENST00000316490_v65p.E4226Gc.12677A>GSubstitution - Missense
ZNF3ENSG00000166526ENST00000299667p.L90Lc.268C>TSubstitution - coding silent
NPNTENSG00000168743ENST00000305572p.P181Lc.542C>TSubstitution - Missense
ABATENSG00000183044ENST00000396600p.L405Ic.1213C>ASubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.S1619Nc.4856G>ASubstitution - Missense
B3GNT9ENSG00000237172ENST00000449549p.P220Rc.659C>GSubstitution - Missense
HEPACAM2ENSG00000188175ENST00000341723p.H46Pc.137A>CSubstitution - Missense
TCEB3CENSG00000183791ENST00000330682p.S286Sc.858C>TSubstitution - coding silent
NISCHENSG00000010322ENST00000345716p.S246fs*15c.735_736delGADeletion - Frameshift
ITGAEENSG00000083457ENST00000263087p.A919Ac.2757T>CSubstitution - coding silent
PRB1ENSG00000251655ENST00000500254p.G84Ec.251G>ASubstitution - Missense
DPP3ENSG00000254986ENST00000360510p.L183Sc.548T>CSubstitution - Missense
ERI2ENSG00000196678ENST00000300005p.Q101fs*5c.299_300insAInsertion - Frameshift
SLC2A10ENSG00000197496ENST00000359271p.R231Wc.691C>TSubstitution - Missense
SYT14ENSG00000143469ENST00000534859p.G138Ec.413G>ASubstitution - Missense
ATRXENSG00000085224ENST00000400866p.F53Sc.158T>CSubstitution - Missense
DDR1ENSG00000204580ENST00000361741p.P105Pc.315G>ASubstitution - coding silent
CD109ENSG00000156535ENST00000287097p.P527Lc.1580C>TSubstitution - Missense
SYTL4ENSG00000102362ENST00000372989p.L223Pc.668T>CSubstitution - Missense
ENST00000274705p.A217Tc.649G>ASubstitution - Missense
KCNAB1ENSG00000169282ENST00000490337p.S24Pc.70T>CSubstitution - Missense
ZNF582ENSG00000018869ENST00000301310p.P254Ac.760C>GSubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.P1821Lc.5462C>TSubstitution - Missense
FAM65BENSG00000111913ENST00000259698p.?c.360+6T>CUnknown
AFMENSG00000079557ENST00000226355p.N109Tc.326A>CSubstitution - Missense
GOT1L1ENSG00000169154ENST00000307599p.Y363fs*26c.1088delADeletion - Frameshift
ANK1ENSG00000029534ENST00000347528p.H647Qc.1941C>ASubstitution - Missense
ENST00000344886p.R190Hc.569G>ASubstitution - Missense
SEC23IPENSG00000107651ENST00000369075p.?c.1313-3T>CUnknown
PAPPA2ENSG00000116183ENST00000367662p.P1679Tc.5035C>ASubstitution - Missense
AIFM2ENSG00000042286ENST00000307864p.M42Tc.125T>CSubstitution - Missense
CARD6ENSG00000132357ENST00000254691p.E42Kc.124G>ASubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.Q1074Qc.3222G>ASubstitution - coding silent
CNTRLENSG00000119397ENST00000373855p.E1406Gc.4217A>GSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000308942p.R18Kc.53G>ASubstitution - Missense
MIB2ENSG00000197530ENST00000355826p.L667Lc.2001C>GSubstitution - coding silent
HPS4ENSG00000100099ENST00000398141p.A352Tc.1054G>ASubstitution - Missense
MED12LENSG00000144893ENST00000474524p.D1120Dc.3360C>TSubstitution - coding silent
VGLL2ENSG00000170162ENST00000326274p.P115Ac.343C>GSubstitution - Missense
ZSWIM6ENSG00000130449ENST00000252744p.N484Sc.1451A>GSubstitution - Missense
CUL4BENSG00000158290ENST00000336592p.D62Ec.186C>GSubstitution - Missense
NRG2ENSG00000158458ENST00000545385p.V358Ic.1072G>ASubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.Q398_R399>Gc.1192_1195CAAC>GComplex - deletion inframe
GFM1ENSG00000168827ENST00000486715p.M401Vc.1201A>GSubstitution - Missense
MICAL1ENSG00000135596ENST00000358807p.R916Cc.2746C>TSubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.E822*c.2464G>TSubstitution - Nonsense
OGTENSG00000147162ENST00000373719p.E101Gc.302A>GSubstitution - Missense
DYTNENSG00000232125ENST00000452335p.A564Tc.1690G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P5541Pc.16623C>TSubstitution - coding silent
ENST00000250872p.R142Cc.424C>TSubstitution - Missense
FRMD4BENSG00000114541ENST00000398540p.?c.1715-5C>TUnknown
PIFOENSG00000173947ENST00000369738p.V98fs*1c.289delADeletion - Frameshift
EME2ENSG00000197774ENST00000307394p.R367Qc.1100G>ASubstitution - Missense
CUBNENSG00000107611ENST00000377833p.R1275Rc.3823C>ASubstitution - coding silent
C20orf78ENSG00000149443ENST00000278779p.T140Tc.420C>ASubstitution - coding silent
DENND4AENSG00000174485ENST00000443035p.N1298Nc.3894T>CSubstitution - coding silent
CTCFLENSG00000124092ENST00000243914p.G579Rc.1735G>CSubstitution - Missense
MYBPC2ENSG00000086967ENST00000357701p.S520Sc.1560G>ASubstitution - coding silent
SHANK1ENSG00000161681ENST00000293441p.V1912Ic.5734G>ASubstitution - Missense
UBAC2ENSG00000134882ENST00000376440p.?c.823-7C>AUnknown
PLD5ENSG00000180287ENST00000536534p.N103Nc.309T>CSubstitution - coding silent
OTOAENSG00000155719ENST00000286149p.E801*c.2401G>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000455263p.?c.672+1G>TUnknown
ENST00000532298p.R51Cc.151C>TSubstitution - Missense
GALNT10ENSG00000164574ENST00000297107p.H132Yc.394C>TSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.E1397Dc.4191G>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.D3381Dc.10143T>CSubstitution - coding silent
SOS1ENSG00000115904ENST00000426016p.P1250Pc.3750A>CSubstitution - coding silent
TRPC7ENSG00000069018ENST00000513104p.R208Pc.623G>CSubstitution - Missense
FAM136AENSG00000035141ENST00000037869p.?c.229-9T>CUnknown
ZNF628ENSG00000197483ENST00000391718p.P642Pc.1926G>ASubstitution - coding silent
COL18A1ENSG00000182871ENST00000355480p.R279Qc.836G>ASubstitution - Missense
YARSENSG00000134684ENST00000373477p.K496Rc.1487A>GSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.Q1412Ec.4234C>GSubstitution - Missense
DDX49ENSG00000105671ENST00000438170p.C158Cc.474C>TSubstitution - coding silent
ENST00000544729p.V266Ic.796G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.672+1G>TUnknown
FAT1ENSG00000083857ENST00000441802p.I557Vc.1669A>GSubstitution - Missense
MCM5ENSG00000100297ENST00000216122p.K28Tc.83A>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P5541Pc.16623C>TSubstitution - coding silent
COL6A2ENSG00000142173ENST00000310645p.K554Rc.1661A>GSubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.P753Pc.2259G>CSubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.S849Rc.2547C>GSubstitution - Missense
SLC35A2ENSG00000102100ENST00000247138p.S352Sc.1056T>CSubstitution - coding silent
SPAG6ENSG00000077327ENST00000376603p.A431Ec.1292C>ASubstitution - Missense
ZNF266ENSG00000174652ENST00000361151p.T205fs*79c.613delADeletion - Frameshift
SLC45A1ENSG00000162426ENST00000289877p.K304Kc.912G>ASubstitution - coding silent
AGXT2ENSG00000113492ENST00000231420p.S75Pc.223T>CSubstitution - Missense
SNRNP70ENSG00000104852ENST00000221448p.G419Gc.1257C>TSubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367134p.I67Tc.200T>CSubstitution - Missense
WASF3ENSG00000132970ENST00000335327p.R467Rc.1401G>ASubstitution - coding silent
ENST00000329336p.I96Ic.288C>TSubstitution - coding silent
ISY1ENSG00000240682ENST00000273541p.?c.187+1G>AUnknown
ANKRD30AENSG00000148513ENST00000602533p.I535Vc.1603A>GSubstitution - Missense
ZNF438ENSG00000183621ENST00000361310p.T91Ic.272C>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.E988Dc.2964G>TSubstitution - Missense
TRIM10ENSG00000204613ENST00000449742p.H365Nc.1093C>ASubstitution - Missense
ENST00000342204p.A3Tc.7G>ASubstitution - Missense
POM121ENSG00000196313ENST00000434423p.A1004_A1005insPAc.3011_3012insCCCGGCInsertion - In frame
PLD5ENSG00000180287ENST00000427495p.N41Nc.123T>CSubstitution - coding silent
PLEKHA8ENSG00000106086ENST00000449726p.S218Nc.653G>ASubstitution - Missense
GCFC2ENSG00000005436ENST00000321027p.?c.619+3A>GUnknown
MUC12ENSG00000205277ENST00000536621p.T1667Sc.5000C>GSubstitution - Missense


COSMIC

0 mutations reported
0 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