ACVR2A |
92 |
activin A receptor type 2A |
ACVR2 | ACTRII |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
4731 |
AFDN |
4301 |
afadin, adherens junction formation factor |
MLLT4 | AF-6 | AF6 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
2 |
2 |
1916 |
AFF4 |
27125 |
AF4/FMR2 family member 4 |
MCEF | AF5Q31 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
3224 |
AKT2 |
208 |
AKT serine/threonine kinase 2 |
|
Amplifications or recurrent mutations |
2 |
2 |
1087 |
APC |
324 |
APC, WNT signaling pathway regulator |
DP3 | DP2.5 | PPP1R46 | DP2 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
3 |
3631 |
ARID1A |
8289 |
AT-rich interaction domain 1A |
SMARCF1 | BAF250a | C10rf4 | B120 | C1orf4 | P270 | BAF250 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
6 |
8 |
8401 |
ARID1B |
57492 |
AT-rich interaction domain 1B |
6A3-5 | p250R | BAF250b | KIAA1235 | DAN15 | ELD/OSA1 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
4 |
2 |
3020 |
ARID2 |
196528 |
AT-rich interaction domain 2 |
DKFZp686G052 | BAF200 | KIAA1557 | FLJ30619 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
3 |
2979 |
ASXL1 |
171023 |
additional sex combs like 1, transcriptional regulator |
KIAA0978 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
2956 |
ATM |
472 |
ATM serine/threonine kinase |
ATC | ATDC | TELO1 | ATD | TEL1 | ATA |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
1 |
2023 |
ATRX |
546 |
ATRX, chromatin remodeler |
RAD54 | XNP | MRX52 | JMS | XH2 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
2973 |
AXIN1 |
8312 |
axin 1 |
PPP1R49 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
2 |
1 |
676 |
B2M |
567 |
beta-2-microglobulin |
|
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
4086 |
BCOR |
54880 |
BCL6 corepressor |
FLJ20285 | KIAA1575 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
3 |
3244 |
BIRC3 |
330 |
baculoviral IAP repeat containing 3 |
cIAP2 | MIHC | c-IAP2 | RNF49 | API2 | MALT2 | hiap-1 |
Amplifications or recurrent mutations |
2 |
1 |
1215 |
BRAF |
673 |
B-Raf proto-oncogene, serine/threonine kinase |
BRAF1 |
Recurrent mutations |
3 |
4 |
5440 |
BRCA1 |
672 |
BRCA1, DNA repair associated |
FANCS | RNF53 | BRCC1 | PPP1R53 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
4 |
2 |
3509 |
BRCA2 |
675 |
BRCA2, DNA repair associated |
FANCD | FAD1 | BRCC2 | FANCD1 | XRCC11 | FAD | FACD |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
4 |
3 |
5229 |
CASP8 |
841 |
caspase 8 |
Casp-8 | MCH5 | MACH | FLICE |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
2 |
1 |
2196 |
CCND1 |
595 |
cyclin D1 |
PRAD1 | BCL1 | U21B31 | D11S287E |
Amplifications or recurrent mutations |
5 |
4 |
5154 |
CCNE1 |
898 |
cyclin E1 |
CCNE |
Amplifications or recurrent mutations |
3 |
3 |
2322 |
CDH1 |
999 |
cadherin 1 |
uvomorulin | UVO | CD324 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
5 |
2 |
4226 |
CDK4 |
1019 |
cyclin dependent kinase 4 |
PSK-J3 |
Amplifications or recurrent mutations |
3 |
2 |
2678 |
CDKN2A |
1029 |
cyclin dependent kinase inhibitor 2A |
CDK4I | INK4 | ARF | CMM2 | MTS1 | p19Arf | p19 | MLM | CDKN2 | p16INK4a | INK4a | p16 | p14 | p14ARF |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
7 |
12 |
10976 |
CDKN2C |
1031 |
cyclin dependent kinase inhibitor 2C |
p18 | INK4C |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
3 |
2622 |
CIC |
23152 |
capicua transcriptional repressor |
KIAA0306 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
2 |
2 |
1119 |
CREBBP |
1387 |
CREB binding protein |
CBP | RSTS | KAT3A | RTS |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
3 |
3127 |
CTCF |
10664 |
CCCTC-binding factor |
|
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
3749 |
CTNNB1 |
1499 |
catenin beta 1 |
beta-catenin | CTNNB | armadillo |
Amplifications or recurrent mutations |
3 |
3 |
4843 |
DNMT3A |
1788 |
DNA methyltransferase 3 alpha |
|
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
458 |
EGFR |
1956 |
epidermal growth factor receptor |
ERBB1 | ERBB |
Amplifications or recurrent mutations |
4 |
4 |
4449 |
EP300 |
2033 |
E1A binding protein p300 |
p300 | KAT3B |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
4 |
5 |
5323 |
ERBB2 |
2064 |
erb-b2 receptor tyrosine kinase 2 |
NEU | NGL | HER-2 | CD340 | HER2 |
Amplifications |
6 |
3 |
5834 |
ERCC5 |
2073 |
ERCC excision repair 5, endonuclease |
XPGC | ERCM2 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
278 |
EZH2 |
2146 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
ENX-1 | EZH1 | KMT6 | KMT6A |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
4112 |
FANCA |
2175 |
Fanconi anemia complementation group A |
FANCH | FAA | FA-H | FACA | FAH |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
3007 |
FAT1 |
2195 |
FAT atypical cadherin 1 |
CDHR8 | CDHF7 | FAT |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
2704 |
FBXW7 |
55294 |
F-box and WD repeat domain containing 7 |
SEL-10 | CDC4 | AGO | FBW7 | FBXW6 | FLJ11071 | SEL10 | FBX30 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
3681 |
FGFR1 |
2260 |
fibroblast growth factor receptor 1 |
FLT2 | BFGFR | KAL2 | N-SAM | H5 | H4 | CD331 | H2 | H3 | CEK | FLG |
Amplifications or recurrent mutations |
1 |
1 |
991 |
FGFR2 |
2263 |
fibroblast growth factor receptor 2 |
CFD1 | K-SAM | TK14 | TK25 | JWS | KGFR | BEK | CEK3 | ECT1 | CD332 |
Amplifications or recurrent mutations |
2 |
1 |
917 |
FLCN |
201163 |
folliculin |
MGC17998 | BHD | MGC23445 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
1 |
2870 |
GNAS |
2778 |
GNAS complex locus |
GNASXL | SgVI | SCG6 | GPSA | NESP | GNAS1 | NESP55 |
Amplifications or recurrent mutations |
4 |
3 |
3139 |
HEY1 |
23462 |
hes related family bHLH transcription factor with YRPW motif 1 |
bHLHb31 | HESR1 | CHF2 | HERP2 | CHF-2 | HRT-1 | HESR-1 |
Amplifications or recurrent mutations |
1 |
1 |
643 |
HNF1A |
6927 |
HNF1 homeobox A |
HNF1 | TCF1 | MODY3 | LFB1 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
176 |
HRAS |
3265 |
HRas proto-oncogene, GTPase |
HRAS1 |
Recurrent mutations |
1 |
1 |
668 |
IL7R |
3575 |
interleukin 7 receptor |
CD127 |
Amplifications or recurrent mutations |
3 |
2 |
3131 |
JAK2 |
3717 |
Janus kinase 2 |
JTK10 |
Amplifications or recurrent mutations |
1 |
1 |
648 |
KDM5C |
8242 |
lysine demethylase 5C |
DXS1272E | MRX13 | JARID1C | SMCX | XE169 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
428 |
KDM6A |
7403 |
lysine demethylase 6A |
UTX |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
4 |
2706 |
KIT |
3815 |
KIT proto-oncogene receptor tyrosine kinase |
C-Kit | SCFR | CD117 | PBT |
Amplifications or recurrent mutations |
1 |
1 |
646 |
KRAS |
3845 |
KRAS proto-oncogene, GTPase |
KRAS1 | KRAS2 |
Recurrent mutations |
5 |
5 |
6548 |
MAP2K4 |
6416 |
mitogen-activated protein kinase kinase 4 |
MKK4 | SERK1 | MEK4 | PRKMK4 | JNKK1 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
5 |
3 |
4229 |
MDM2 |
4193 |
MDM2 proto-oncogene |
HDM2 | MGC5370 |
Amplifications or recurrent mutations |
2 |
1 |
1013 |
MET |
4233 |
MET proto-oncogene, receptor tyrosine kinase |
DFNB97 | RCCP2 | HGFR |
Amplifications or recurrent mutations |
3 |
2 |
2307 |
MLH1 |
4292 |
mutL homolog 1 |
HNPCC2 | FCC2 | HNPCC | COCA2 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
2 |
1 |
793 |
MSH2 |
4436 |
mutS homolog 2 |
HNPCC1 | COCA1 | HNPCC |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
2 |
855 |
MSH6 |
2956 |
mutS homolog 6 |
GTBP |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
3 |
4688 |
MYC |
4609 |
MYC proto-oncogene, bHLH transcription factor |
MYCC | bHLHe39 | c-Myc |
Amplifications |
5 |
6 |
6955 |
MYCN |
4613 |
MYCN proto-oncogene, bHLH transcription factor |
N-myc | NMYC | bHLHe37 | MYCNOT |
Amplifications |
2 |
1 |
2870 |
NBN |
4683 |
nibrin |
AT-V2 | ATV | NBS1 | AT-V1 | NBS |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
602 |
NCOA3 |
8202 |
nuclear receptor coactivator 3 |
KAT13B | AIB1 | p/CIP | SRC3 | bHLHe42 | ACTR | CAGH16 | TNRC16 | TRAM-1 | SRC-3 | RAC3 |
Amplifications or recurrent mutations |
2 |
2 |
1216 |
NCOR1 |
9611 |
nuclear receptor corepressor 1 |
TRAC1 | PPP1R109 | hN-CoR | hCIT529I10 | KIAA1047 | N-CoR | MGC104216 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
2858 |
NCOR2 |
9612 |
nuclear receptor corepressor 2 |
SMRT | SMRTE | TRAC-1 | TNRC14 | CTG26 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
1 |
1584 |
NF1 |
4763 |
neurofibromin 1 |
|
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
5 |
6 |
6234 |
NF2 |
4771 |
neurofibromin 2 |
merlin | ACN | BANF | SCH |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
3288 |
NOTCH1 |
4851 |
notch 1 |
TAN1 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
2 |
2 |
1867 |
NOTCH2 |
4853 |
notch 2 |
|
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
404 |
NRAS |
4893 |
NRAS proto-oncogene, GTPase |
N-ras |
Recurrent mutations |
4 |
5 |
6434 |
NSD1 |
64324 |
nuclear receptor binding SET domain protein 1 |
STO | KMT3B | FLJ22263 | ARA267 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
1 |
2055 |
NUP98 |
4928 |
nucleoporin 98 |
NUP96 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
2 |
686 |
PBRM1 |
55193 |
polybromo 1 |
PB1 | BAF180 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
3 |
2220 |
PIK3CA |
5290 |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
PI3K |
Amplifications or recurrent mutations |
6 |
7 |
8475 |
PIK3R1 |
5295 |
phosphoinositide-3-kinase regulatory subunit 1 |
GRB1 | p85 | p85-ALPHA |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
3 |
3533 |
PMS1 |
5378 |
PMS1 homolog 1, mismatch repair system component |
PMSL1 | MLH2 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
677 |
PPM1D |
8493 |
protein phosphatase, Mg2+/Mn2+ dependent 1D |
Wip1 | PP2C-DELTA |
Amplifications or recurrent mutations |
3 |
1 |
1873 |
PSIP1 |
11168 |
PC4 and SFRS1 interacting protein 1 |
DFS70 | p52 | LEDGF | p75 | PSIP2 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
1 |
1297 |
PTCH1 |
5727 |
patched 1 |
BCNS | NBCCS | PTCH |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
2 |
2 |
1503 |
PTEN |
5728 |
phosphatase and tensin homolog |
MHAM | PTEN1 | TEP1 | BZS | MMAC1 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
6 |
8 |
8506 |
PTPRK |
5796 |
protein tyrosine phosphatase, receptor type K |
R-PTP-kappa |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
2 |
2 |
1521 |
RB1 |
5925 |
RB transcriptional corepressor 1 |
OSRC | PPP1R130 | RB |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
5 |
6 |
5921 |
RNF43 |
54894 |
ring finger protein 43 |
URCC | DKFZp781H0392 | FLJ20315 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
4 |
3 |
5052 |
RPL22 |
6146 |
ribosomal protein L22 |
EAP | L22 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
3 |
5715 |
SETD2 |
29072 |
SET domain containing 2 |
FLJ23184 | HIF-1 | KMT3A | KIAA1732 | HYPB |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
2 |
3 |
2068 |
SKP2 |
6502 |
S-phase kinase associated protein 2 |
FBXL1 | p45 | FBL1 |
Amplifications or recurrent mutations |
4 |
3 |
4053 |
SMAD4 |
4089 |
SMAD family member 4 |
DPC4 | MADH4 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
5 |
7 |
5855 |
SMARCA4 |
6597 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
hSNF2b | BRG1 | FLJ39786 | SWI2 | SNF2-BETA | SNF2LB | SNF2L4 | BAF190 | SNF2 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
4 |
4 |
3869 |
SMARCB1 |
6598 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Snr1 | PPP1R144 | Ini1 | BAF47 | hSNFS | SNF5L1 | Sfh1p | RDT |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
483 |
SOX2 |
6657 |
SRY-box 2 |
|
Amplifications or recurrent mutations |
1 |
2 |
966 |
SOX9 |
6662 |
SRY-box 9 |
CMPD1 | SRA1 | CMD1 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
2 |
2 |
1970 |
SPOP |
8405 |
speckle type BTB/POZ protein |
BTBD32 | TEF2 |
Amplifications or recurrent mutations |
2 |
2 |
1842 |
STAG2 |
10735 |
stromal antigen 2 |
SA-2 | SCC3B | SA2 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
1415 |
STK11 |
6794 |
serine/threonine kinase 11 |
PJS | LKB1 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
4 |
2 |
4508 |
TCF12 |
6938 |
transcription factor 12 |
HEB | HTF4 | HsT17266 | bHLHb20 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
403 |
TERT |
7015 |
telomerase reverse transcriptase |
TRT | hEST2 | TCS1 | TP2 | EST2 |
Amplifications or recurrent mutations |
3 |
2 |
2971 |
TET2 |
54790 |
tet methylcytosine dioxygenase 2 |
FLJ20032 | KIAA1546 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
567 |
TGFBR2 |
7048 |
transforming growth factor beta receptor 2 |
MFS2 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
2 |
735 |
THRAP3 |
9967 |
thyroid hormone receptor associated protein 3 |
BCLAF2 | TRAP150 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
551 |
TP53 |
7157 |
tumor protein p53 |
p53 | LFS1 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
7 |
13 |
11384 |
TRRAP |
8295 |
transformation/transcription domain associated protein |
Tra1 | PAF400 | TR-AP |
Amplifications or recurrent mutations |
2 |
1 |
1242 |
TSC1 |
7248 |
TSC complex subunit 1 |
LAM | TSC | hamartin | KIAA0243 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
1 |
282 |
UBR5 |
51366 |
ubiquitin protein ligase E3 component n-recognin 5 |
DD5 | KIAA0896 | HYD | EDD | EDD1 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
3 |
2 |
4179 |
VHL |
7428 |
von Hippel-Lindau tumor suppressor |
VHL1 |
Homozygous deletions, nonsense mutations, frameshift mutations, splice-site mutations and recurrent mutations |
1 |
2 |
1211 |