Somatically Mutated Genes

From Compendium of Cancer Genome Aberrations
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The following list is based on the 2016 Sanger Centre Cancer Gene Census.

Gene Symbol Chromosome Band Tumour Types Translocation Partner (if any)
SEPT5 22q11.21 AML KMT2A
SEPT6 Xq24 AML KMT2A
SEPT9 17q25 AML KMT2A
ABI1 10p11.2 AML KMT2A
ABL1 9q34.1 CML,ALL,T-ALL BCR,ETV6,NUP214
ABL2 1q24-q25 AML ETV6
ACKR3 2q37.3 lipoma HMGA2
ACSL3 2q36 prostate ETV1
ACSL6 5q31.1 AML,AEL ETV6
ACVR1 2q23-q24 DIPG
AFF1 4q21 AL KMT2A
AFF3 2q11.2-q12 ALL,T-ALL KMT2A,RUNX1
AFF4 5q31 ALL KMT2A
AKAP9 7q21-q22 papillary thyroid BRAF
AKT1 14q32.32 breast,colorectal,ovarian,NSCLC
AKT2 19q13.1-q13.2 ovarian,pancreatic
ALDH2 12q24.2 leiomyoma HMGA2
ALK 2p23 ALCL,NSCLC,neuroblastoma,inflammatory myofibroblastic tumour,Spitzoid tumour NPM1,TPM3,TFG,TPM4,ATIC,CLTC,MSN,RNF213,CARS,EML4,KIF5B,C2orf22,DCTN1,HIP1,TPR,RANBP2,PPFIBP1,SEC31A,STRN,VCL,C2orf44,KLC1
AMER1 Xq11.2 Wilms tumour
APC 5q21 colorectal,pancreatic,desmoid,hepatoblastoma,glioma,other CNS
ARHGAP26 5q31 AML,MDS KMT2A
ARHGEF12 11q23.3 AML KMT2A
ARID1A 1p35.3 clear cell ovarian carcinoma,RCC,breast MAST2
ARID1B 6q25.1 breast,hepatocellular carcinoma
ARID2 12q12 hepatocellular carcinoma
ARNT 1q21 AML ETV6
ASPSCR1 17q25 alveolar soft part sarcoma TFE3
ASXL1 20q11.1 MDS,CMML
ATF1 12q13 malignant melanoma of soft parts,angiomatoid fibrous histiocytoma EWSR1,FUS
ATIC 2q35 ALCL ALK
ATM 11q22.3 T-PLL
ATP1A1 1p21 adrenal aldosterone producing adenoma
ATP2B3 Xq28 adrenal aldosterone producing adenoma
ATR 3q23 endometrial,gastric
ATRX Xq21.1 pancreatic neuroendocrine tumours,paediatric GBM
AXIN1 16p13.3 colorectal,endometrial,prostate,hepatocellular carcinoma,hepatoblastoma,sporadic medulloblastoma
AXIN2 17q24.1 colorectal carcinoma,stomach carcinoma,hepatocellular carcinoma
BAP1 3p21.31-p21.2 uveal melanoma,breast,NSCLC,RCC
BCL10 1p22 MALT IGH
BCL11A 2p13 B-CLL IGH
BCL11B 14q32.1 T-ALL TLX3
BCL2 18q21.3 NHL,CLL IGH
BCL3 19q13 CLL IGH
BCL5 17q22 CLL MYC
BCL6 3q27 NHL,CLL IG loci,ZNFN1A1,LCP1,PIM1,TFRC,CIITA,NACA,HSPCB,HSP90AA1,HIST1H4I,IL21R,POU2AF1,RHOH,EIF4A2,SRSF3
BCL7A 12q24.1 BNHL MYC
BCL9 1q21 B-ALL IGH,IGL
BCOR Xp11.4 retinoblastoma,AML,APL (translocation) RARA
BCR 22q11.21 CML,ALL,AML ABL1,FGFR1,JAK2
BIRC3 11q22 CLL,MALT,MCL,MM MALT1
BRAF 7q34 melanoma,colorectal,papillary thyroid,borderline ovarian,NSCLC,cholangiocarcinoma,pilocytic astrocytoma,Spitzoid tumour,pancreas acinar carcinoma,melanocytic nevus,prostate,gastric AKAP9,KIAA1549,CEP88,LSM14A,SND1,FCHSD1,SLC45A3,FAM131B,RNF130,CLCN6,MKRN1,GNAI1,AGTRAP
BRCA1 17q21 ovarian
BRCA2 13q12 breast,ovarian,pancreatic
BRD3 9q34 lethal midline carcinoma of young people NUTM1
BRD4 19p13.1 lethal midline carcinoma of young people NUTM1
BTG1 12q22 B-CLL MYC
C12orf9 12q14.3 lipoma LPP
C15orf65 15q21.3 PMBL,Hodgkin lymphoma CIITA
C2orf44 2p23.3 colorectal ALK
CACNA1D 3p14.3 adrenal aldosterone producing adenoma
CALR 19p13.3-p13.2 MPN,MDS
CAMTA1 1p36.31-p36.23 epithelioid haemangioendothelioma WWTR1
CANT1 17q25 prostate ETV4
CARD11 7p22 DLBCL
CARS 11p15.5 ALCL ALK
CASC5 15q14 AML KMT2A
CASP8 2q33-q34 hepatocellular,oral squamous cell,breast
CBFA2T3 16q24 AML RUNX1
CBFB 16q22 AML MYH11
CBL 11q23.3 AML,JMML,MDS KMT2A
CBLB 3q13.11 AML
CBLC 19q13.2 AML
CCDC6 10q21 papillary thyroid,CML,NSCLC RET,PDGFRB
CCNB1IP1 14q11.2 leiomyoma HMGA2
CCND1 11q13 CLL,B-ALL,breast IGH,FSTL3
CCND2 12p13 NHL,CLL IGL
CCND3 6p21 MM IGH
CCNE1 19q12 serous ovarian
CD274 9p24 PMBL,Hodgkin lymphoma CIITA
CD74 5q32 NSCLC ROS1,NRG1
CD79A 19q13.2 DLBCL,WM
CD79B 17q23 DLBCL,WM
CDC73 1q21-q31 parathyroid adenoma
CDH1 16q22.1 lobular breast,gastric
CDH11 16q22.1 aneurysmal bone cyst USP6
CDK12 17q12 serous ovarian
CDK6 7q21-q22 ALL MLLT10
CDKN1B 12p13.1-p12 breast,small intestine neuroendocrine tumours
CDKN2A 9p21 melanoma,multiple other tumour types
CDKN2A(p14) 9p21 melanoma,multiple other tumour types
CDKN2C 1p32 glioma,MM
CDX2 13q12.3 AML ETV6
CEBPA 19q13.1 AML,MDS
CEP89 19q13.11 Spitzoid tumour BRAF
CHCHD7 8q11.2 salivary adenoma PLAG1
CHIC2 4q11-q12 AML ETV6
CHN1 2q31-q32.1 extraskeletal myxoid chondrosarcoma TAF15
CIC 19q13.2 oligodendroglioma,soft tissue sarcoma DUX4L1,FOXO4
CIITA 16p13 PMBL,Hodgkin lymphoma C15orf55,CD274,PDCD1LG2,RALGDS,RUNDC2A,RMI2,BCL6
CLIP1 12q24.3 Spitzoid tumour ROS1
CLP1 11q12 AML KMT2A
CLTC 17q11-qter ALCL,renal ALK,TFE3
CLTCL1 22q11.21 ALCL Unknown
CNBP 3q21 aneurysmal bone cyst USP6
CNOT3 19q13.4 T-ALL
CNTRL 9q33.2 MPN,NHL FGFR1
COL1A1 17q21.31-q22 DFSP,aneurysmal bone cyst PDGFB,USP6
COL2A1 12q13.11 chondrosarcoma,enchondroma
COX6C 8q22-q23 uterine leiomyoma HMGA2
CREB1 2q34 clear cell sarcoma,angiomatoid fibrous histiocytoma EWSR1
CREB3L1 11p11.2 myxofibrosarcoma FUS
CREB3L2 7q34 fibromyxoid sarcoma FUS
CREBBP 16p13.3 ALL,AML,DLBCL,B-NHL KMT2A,MORF,KAT6A
CRLF2 Xp22.3; Yp11.3 B-ALL,Downs associated ALL P2RY8,IGH
CRTC1 19p13.11 salivary gland mucoepidermoid MAML2
CRTC3 15q26.1 salivary gland mucoepidermoid MAML2
CSF3R 1p35-p34.4 aCML,CNL,leukaemia lymphoma and MDS associated with severe congenital neutropenia,CMML,de novo AML,MDS
CTNNB1 3p22-p21.3 colorectal,ovarian,hepatoblastoma,pleomorphic salivary gland adenoma,other tumour types PLAG1
CUX1 7q22.1 endometrial,melanoma,colorectal,AML,MDS,other tumour types CLDN7
CYLD 16q12-q13 cylindroma
DAXX 6p21.3 pancreatic neuroendocrine tumour,paediatric glioblastoma
DCTN1 2p13 inflammatory myofibroblastic tumour,Spitzoid tumour ALK,ROS1
DDIT3 12q13.1-q13.2 liposarcoma FUS,EWSR1
DDX10 11q22-q23 AML* NUP98
DDX5 17q21 prostate ETV4
DDX6 11q23.3 B-NHL IGH
DEK 6p23 AML NUP214
DICER1 14q32.13 sex cord-stromal tumour,TGCT,embryonal rhabdomyosarcoma,pleuropulmonary blastoma,pituitary blastoma,Wilms tumour,thyroid cancer,other tumour types
DNM2 19p13.2 T-ALL
DNMT3A 2p23 AML
DUX4L1 4q35 soft tissue sarcoma CIC
EBF1 5q34 lipoma HMGA2
ECT2L 6q24.1 ETP ALL
EGFR 7p12.3-p12.1 glioma,NSCLC
EIF3E 8q22-q23 colorectal RSPO3
EIF4A2 3q27.3 NHL BCL6
ELF4 Xq26 AML ERG
ELK4 1q32 prostate SLC45A3
ELL 19p13.1 AL KMT2A
ELN 7q11.23 B-ALL PAX5
EML4 2p21 NSCLC ALK
EP300 22q13 colorectal,breast,pancreatic,AML,ALL,DLBCL KMT2A,KAT6A
EPS15 1p32 ALL KMT2A
ERBB2 17q21.1 breast,ovarian,other tumour types,NSCLC,gastric
ERBB3 12q13 colon,gastric,head and neck,bladder,skin
ERC1 12p13.3 papillary thyroid,Spitzoid tumour RET,ROS1
ERG 21q22.3 Ewing sarcoma,prostate,AML EWSR1,TMPRSS2,ELF4,FUS,HERPUD1,NDRG1
ESR1 6q25.1 breast
ETNK1 12p12.1 aCML,CMML,SM-AHD,HES
ETV1 7p22 Ewing sarcoma,prostate EWSR1,TMPRSS2,SLC45A3,HMGN2P46,HNRNPA2B1. ACSL3
ETV4 17q21 Ewing sarcoma,prostate carcinoma EWSR1,TMPRSS2,DDX5,KLK2,CANT1
ETV5 3q28 prostate TMPRSS2,SCL45A3
ETV6 12p13 congenital fibrosarcoma,multiple different leukaemia and lymphoma tumour types including ALL,secretory breast,MDS NTRK3,RUNX1,PDGFRB,ABL1,MN1,ABL2,ACSL6,CHIC2,ARNT,JAK2,MECOM,CDX2,RNF217-AS1,MNX1,MDS2,PER1,SYK,TTL,FGFR3,PAX5
EWSR1 22q12 Ewing sarcoma,desmoplastic small round cell tumour ,ALL,clear cell sarcoma,sarcoma,myoepithelioma,mesothelioma FLI1,ERG,NR4A3,FEV,ATF1,ETV1,ETV4,WT1,ZNF384,CREB1,POU5F1,PBX1,NFATC1,NFATC2,DDIT3,PATZ1,SMARCA5,SP3,ZNF444,YY1
EZH2 7q35-q36 DLBCL
EZR 6q25.3 NSCLC ROS1
FAM131B 7q34 pilocytic astrocytoma BRAF
FAM46C 1p12 MM
FAS 10q24.1 TGCT,nasal NK/T lymphoma,skin squamous cell carcinoma-burn scar related
FBXO11 2p16.3 DLBCL
FBXW7 4q31.3 colorectal,endometrial,T-ALL
FCGR2B 1q23 ALL Unknown
FCRL4 1q21 B-NHL IGH
FEV 2q36 Ewing sarcoma EWSR1,FUS
FGFR1 8p11.2-p11.1 MPN,NHL,salivary adenoma BCR,FOP,ZMYM2,CNTRL,PLAG1
FGFR1OP 6q27 MPN,NHL FGFR1
FGFR2 10q26 gastric,NSCLC,endometrial
FGFR3 4p16.3 bladder,MM,T-cell lymphoma IGH,ETV6
FGFR4 5q35.2 rhabdomyosarcoma
FHIT 3p14.2 pleomorphic salivary gland adenoma HMGA2
FIP1L1 4q12 idiopathic hypereosinophilic syndrome PDGFRA
FLI1 11q24 Ewing sarcoma EWSR1
FLT3 13q12 AML,ALL
FLT4 5q35.3 soft tissue sarcoma
FNBP1 9q23 AML KMT2A
FOXA1 14q12-q13 breast,prostate
FOXL2 3q23 granulosa-cell tumour of the ovary
FOXO1 13q14.1 alveolar rhabdomyosarcoma PAX3,PAX7
FOXO3 6q21 AL KMT2A
FOXO4 Xq13.1 soft tissue sarcoma CIC
FOXO4 Xq13.1 AL KMT2A
FOXP1 3p14.1 ALL PAX5
FSTL3 19p13 B-CLL CCND1
FUBP1 1p13.1 oligodendroglioma
FUS 16p11.2 liposarcoma,AML,Ewing sarcoma,angiomatoid fibrous histiocytoma,fibromyxoid sarcoma DDIT3,ERG,FEV,ATF1,CREB3L2,CREB3L1,NFATC2
GAS7 17p AML* KMT2A
GATA1 Xp11.23 megakaryoblastic leukaemia of Downs syndrome
GATA2 3q21.3 AML (CML blast transformation)
GATA3 10p15 breast
GMPS 3q24 AML KMT2A
GNA11 19p13.3 uveal melanoma
GNAQ 9q21 uveal melanoma
GNAS 20q13.2 pituitary adenoma
GOLGA5 14q papillary thyroid,Spitzoid tumour RET
GOPC 6q21 glioblastoma ROS1
GPHN 14q24 AL KMT2A
GRIN2A 16p13.2 melanoma,colorectal carcinoma,gastric carcinoma,lung carcinoma
H3F3A 1q42.12 glioma
H3F3B 17q25.1 chondroblastoma
HERPUD1 16q12.2-q13 prostate ERG
HEY1 8q21 mesenchymal chondrosarcoma NCOA2
HIP1 7q11.23 CMML,NSCLC PDGFRB,ALK
HIST1H3B 6p22.1 glioma
HIST1H4I 6p21.3 NHL BCL6
HLA-A 6p21.3 Spitzoid tumour ROS1
HLF 17q22 ALL TCF3
HMGA1 6p21 microfollicular thyroid adenoma,various benign mesenchymal tumours Unknown
HMGA2 12q15 lipoma,leiomyoma,pleomorphic salivary gland adenoma LHFP,RAD51B,LPP,COX6C,ACKR3,NFIB,ALDH2,CCNB1IP1,EBF1,WIF1,FHIT
HMGN2P46 15q21.1 prostate ETV1
HNF1A 12q24.2 hepatic adenoma,hepatocellular
HNRNPA2B1 7p15 prostate ETV1
HOOK3 8p11.21 papillary thyroid RET
HOXA11 7p15-p14.2 CML NUP98
HOXA13 7p15-p14.2 AML NUP98
HOXA9 7p15-p14.2 AML* NUP98,MSI2
HOXC11 12q13.3 AML NUP98
HOXC13 12q13.3 AML NUP98
HOXD11 2q31-q32 AML NUP98
HOXD13 2q31-q32 AML* NUP98
HRAS 11p15.5 infrequent sarcomas,rare other tumour types
HSP90AA1 14q32.33 NHL BCL6
HSP90AB1 6p12 NHL BCL6
IDH1 2q33.3 glioblastoma
IDH2 15q26.1 glioblastoma
IGH 14q32.33 MM,Burkitt lymphoma,NHL,CLL,B-ALL,MALT,MLCLS MYC,FGFR3,PAX5,FCRL4,IRF4,CCND1,BCL9,BCL8,BCL6,BCL2,BCL3,BCL10,BCL11A. LHX4,DDX6,NFKB2,PAFAH1B2,PCSK7,CRLF2
IGK 2p12 Burkitt lymphoma,B-NHL MYC,KDSR
IGL 22q11.2 Burkitt lymphoma BCL9,MYC,CCND2
IKBKB 8p11.2 SMZL
IKZF1 7p12.2 ALL,DLBCL BCL6
IL2 4q26-q27 intestinal T-cell lymphoma TNFRSF17
IL21R 16p11 NHL BCL6
IL6ST 5q11 hepatocellular carcinoma
IL7R 5p13 ALL,ETP ALL
IRF4 6p25-p23 MM IGH
ITK 5q31-q32 peripheral T-cell lymphoma SYK
JAK1 1p32.3-p31.3 ALL
JAK2 9p24 ALL,AML,MPN,CML ETV6,PCM1,BCR
JAK3 19p13.1 acute megakaryocytic leukaemia,ETP ALL
JAZF1 7p15.2-p15.1 endometrial stromal tumour SUZ12
JUN 1p32-p31 sarcoma
KAT6A 8p11 AML CREBBP,NCOA2,EP300
KAT6B 10q22.2 AML CREBBP
KCNJ5 11q24 adrenal adenoma
KDM5A 12p11 AML NUP98
KDM5C Xp11.22-p11.21 clear cell renal carcinoma
KDM6A Xp11.2 renal cell carcinoma,bladder carcinoma,oesophageal SCC,MM,medulloblastoma,T-ALL,other tumour types
KDR 4q11-q12 NSCLC,angiosarcoma
KDSR 18q21.3 B-NHL IGK
KIAA1549 7q34 pilocytic astrocytoma BRAF
KIAA1598 10q25.3 Spitzoid tumour ROS1
KIF5B 10p11.22 NSCLC,Spitzoid tumour RET,ALK
KIT 4q12 GIST,AML,TGCT,mastocytosis,mucosal melanoma
KLF4 9q31 meningioma
KLF6 10p15 prostate,glioma
KLK2 19q13.41 prostate ETV4
KMT2A 11q23 AML,ALL Various KMT2A Partner Genes
KMT2C 7q36.1 medulloblastoma
KMT2D 12q13.12 medulloblastoma,renal
KRAS 12p12.1 pancreatic,colorectal,lung,thyroid,AML,other tumour types
KTN1 14q22.1 papillary thyroid RET
LASP1 17q11-q21.3 AML KMT2A
LCK 1p35-p34.3 T-ALL TRB
LCP1 13q14.1-q14.3 NHL BCL6
LHFP 13q12 lipoma HMGA2
LIFR 5p13-p12 salivary adenoma PLAG1
LMNA 1q22 Spitzoid tumour NTRK1
LMO1 11p15 T-ALL,neuroblastoma TRD
LMO2 11p13 T-ALL TRD
LPP 3q28 lipoma,leukaemia HMGA2,KMT2A,C12orf9
LRIG3 12q14.1 NSCLC ROS1
LSM14A 19q13.11 Spitzoid tumour BRAF
LYL1 19p13.2-p13.1 T-ALL TRB
MAF 16q22-q23 MM IGH
MAFB 20q11.2-q13.1 MM IGH
MALAT1 11q31.1 renal cell carcinoma (childhood epithelioid),lung TFEB
MALT1 18q21 MALT BIRC3
MAML2 11q22-q23 salivary gland mucoepidermoid CRTC3,CRTC1
MAP2K1 15q22.1-q22.33 NSCLC,melanoma,colorectal
MAP2K2 19p13.3 NSCLC,melanoma
MAP2K4 17p11.2 pancreatic,breast,colorectal
MAP3K1 5q11.2 luminal A breast
MAP3K13 3q27 breast
MAX 14q23 pheochromocytoma,endometrioid carcinoma,colon carcinoma
MDM2 12q15 sarcoma,glioma,colorectal,other tumour types
MDM4 1q32 glioblastoma,bladder,retinoblastoma
MDS2 1p36 MDS ETV6
MECOM 3q26.2 AML,CML,MDS RUNX1,ETV6,PRDM16,RPN1
MED12 Xq13 uterine leiomyoma
MEN1 11q13 parathyroid tumours,pancreatic neuroendocrine tumour
MET 7q31 papillary renal,head-neck squamous cell
MITF 3p14.1 melanoma
MKL1 22q13 acute megakaryocytic leukaemia RBM15
MLF1 3q25.1 AML NPM1
MLH1 3p21.3 colorectal,endometrial,ovarian,CNS tumours
MLLT1 19p13.3 AL KMT2A
MLLT10 10p12 AL KMT2A,PICALM,CDK6
MLLT11 1q21 ALL KMT2A
MLLT3 9p22 ALL KMT2A
MLLT4 6q27 AL KMT2A
MLLT6 17q21 AL KMT2A
MN1 22q13 AML,meningioma ETV6
MNX1 7q36 AML ETV6
MPL 1p34 MPN
MSH2 2p22-p21 colorectal,endometrial,ovarian
MSH6 2p16 colorectal
MSI2 17q23.2 CML HOXA9
MSN Xq11.2-q12 ALCL ALK
MTCP1 Xq28 T cell prolymphocytic leukaemia TRA
MUC1 1q21 B-NHL IGH
MYB 6q22-23 adenoid cystic carcinoma NFIB
MYC 8q24.12-q24.13 Burkitt lymphoma,amplified in other cancers,B-CLL IGK,BCL5,BCL7A ,BTG1,TRA,IGH
MYCL 1p34.2 small cell lung carcinoma
MYCN 2p24.1 neuroblastoma
MYD88 3p22 ABC-DLBCL
MYH11 16p13.13-p13.12 AML CBFB
MYH9 22q13.1 ALCL ALK
MYO5A 15q21 Spitzoid tumour ROS1
MYOD1 11p15.4 embryonal rhabdomyosarcoma
NAB2 12q13.3 solitary fibrous tumour,meningeal haemangiopericytoma STAT6
NACA 12q23-q24.1 NHL BCL6
NCKIPSD 3p21 ALL KMT2A
NCOA1 2p23 alveolar rhabdomyosarcoma PAX3
NCOA2 8q13.1 AML,chondrosarcoma,rhabdomyosarcoma KAT6A,HEY1,NCOA2
NCOA4 10q11.2 papillary thyroid RET
NCOR1 17p11.2 breast
NDRG1 8q24.3 prostate ERG
NF1 17q12 neurofibroma,glioma
NF2 22q12.2 meningioma,acoustic neuroma,renal
NFATC2 20q13.2 Ewing sarcoma EWSR1
NFE2L2 2q31 NSCLC,HNSCC
NFIB 9p24.1 adenoid cystic carcinoma,lipoma MYB,HGMA2
NFKB2 10q24 B-NHL IGH
NFKBIE 6p21.1 CLL
NIN 14q24 MPN PDGFRB
NKX2-1 14q13 NSCLC
NONO Xq13.1 papillary renal TFE3
NOTCH1 9q34.3 T-ALL,breast,bladder,skin SCC,lung SCC,head and neck SCC TRB,SEC16A,GABBR2
NOTCH2 1p13-p11 marginal zone lymphoma,DLBCL,bladder
NPM1 5q35 NHL,APL,AML ALK,RARA,MLF1
NR4A3 9q22 extraskeletal myxoid chondrosarcoma EWSR1,TAF15,TCF12,TFG
NRAS 1p13.2 melanoma,MM,AML,thyroid
NRG1 8p12 NSCLC CD74
NSD1 5q35 AML NUP98
NT5C2 10q24.32 relapse ALL
NTRK1 1q21-q22 papillary thyroid,Spitzoid tumour TPM3,TPR,TFG,TP53,LMNA
NTRK3 15q25 congenital fibrosarcoma,secretory breast ETV6
NUMA1 11q13 APL RARA
NUP214 9q34.1 AML,T-ALL DEK,SET,ABL1
NUP98 11p15 AML HOXA9,NSD1,WHSC1L1,DDX10,TOP1,HOXD13,PRRX1,HOXA13,HOXD11,HOXA11,RAP1GDS1,HOXC11
NUTM1 15q14 lethal midline carcinoma BRD3,BRD4
NUTM2A 10q23.2 endometrial stromal sarcoma YWHAE
NUTM2B 10q22.3 endometrial stromal sarcoma YWHAE
OLIG2 21q22.11 T-ALL TRA
OMD 9q22.31 aneurysmal bone cyst USP6
P2RY8 Xp22.3; Yp11.3 B-ALL,Down syndrome associated ALL CRLF2
PAFAH1B2 11q23 MLCLS IGH
PAX3 2q35 alveolar rhabdomyosarcoma FOXO1,NCOA1,NCOA2
PAX5 9p13 NHL,ALL,B-ALL IGH,ETV6,PML,FOXP1,ZNF521,ELN
PAX7 1p36.2-p36.12 alveolar rhabdomyosarcoma FOXO1
PAX8 2q12-q14 follicular thyroid PPARG
PBRM1 3p21 clear cell renal carcinoma,breast
PBX1 1q23 pre B-ALL,myoepithelioma TCF3,EWSR1
PCM1 8p22-p21.3 papillary thyroid,CML,MPN RET,JAK2
PCSK7 11q23.3 MLCLS IGH
PDCD1LG2 9p24.2 PMBL,Hodgkin lymphoma CIITA
PDE4DIP 1q12 MPN PDGFRB
PDGFB 22q12.3-q13.1 DFSP COL1A1
PDGFRA 4q11-q13 GIST,idiopathic hypereosinophilic syndrome,paediatric glioblastoma FIP1L1
PDGFRB 5q31-q32 MPN,AML,CMML,CML ETV6,TRIP11,HIP1,RABEP1,H4,NIN,SPECC1,PDE4DIP
PER1 17p13.1-17p12 AML,CMML ETV6
PHF6 Xq26.3 ETP ALL
PHOX2B 4p12 neuroblastoma
PICALM 11q14 T-ALL,AML MLLT10,KMT2A
PIK3CA 3q26.3 colorectal,gastric,glioblastoma,breast
PIK3R1 5q13.1 glioblastoma,ovarian,colorectal
PIM1 6p21.2 NHL BCL6
PLAG1 8q12 salivary adenoma,lipoblastoma TCEA1,LIFR,CTNNB1,CHCHD7,COL1A2,HAS2
PLCG1 20q12-q13.1 angiosarcoma
PML 15q22 APL,ALL RARA,PAX5
POLE 12q24.3 colorectal carcinoma,endometrioid carcinoma,stomach carcinoma,skin cancer
POT1 7q31.33 CLL
POU2AF1 11q23.1 NHL BCL6
POU5F1 6p21.31 sarcoma EWSR1
PPARG 3p25 follicular thyroid PAX8
PPFIBP1 12p12.1 Spitzoid tumour,inflammatory myofibroblastic tumour ROS1,ALK
PPP2R1A 19q13.41 clear cell ovarian carcinoma
PPP6C 9q33.3 melanoma
PRCC 1q21.1 papillary renal TFE3
PRDM1 6q21 DLBCL
PRDM16 1p36.23-p33 MDS,AML MECOM
PRKAR1A 17q23-q24 papillary thyroid RET
PRRX1 1q24 AML NUP98
PSIP1 9p22.3 AML NUP98
PTCH1 9q22.3 skin basal cell,medulloblastoma
PTEN 10q23.3 glioma,prostate,endometrial
PTPN11 12q24.1 JMML,AML,MDS
PTPRB 12q15-q21 angiosarcoma
PTPRC 1q31-q32 T-ALL
PTPRK 6q22.2-q22.3 colorectal RSPO3
PWWP2A 5q33.3 Spitzoid tumour ROS1
RABEP1 17p13.2 CMML PDGFRB
RAC1 7p22 melanoma,carcinoma
RAD21 8q24.11 AML,endometrium,colorectal,lung
RAD51B 14q23-q24.2 lipoma,uterine leiomyoma HMGA2
RAF1 3p25 pilocytic astrocytoma,prostate SRGAP3,ESRP1
RALGDS 9q34.3 PMBL,Hodgkin lymphoma, CIITA
RANBP17 5q34 ALL TRD
RANBP2 2q12.3 inflammatory myofibroblastic tumour ALK
RAP1GDS1 4q21-q25 T-ALL NUP98
RARA 17q12 APL PML,ZBTB16,TRIM24,NUMA1,NPM1
RB1 13q14 retinoblastoma,sarcoma,breast,small cell lung carcinoma
RBM15 1p13 acute megakaryocytic leukaemia MKL1
REL 2p13-p12 Hodgkin lymphoma
RET 10q11.2 medullary thyroid,papillary thyroid,pheochromocytoma,NSCLC,Spitzoid tumour H4,PRKAR1A,NCOA4,PCM1,GOLGA5,TRIM33,KTN1,TRIM27,HOOK3,KIF5B,CCDC6
RHOA 3p21.3 diffuse gastric,T cell lymphomas,paediatric Burkitt lymphoma
RHOH 4p13 NHL BCL6
RMI2 16p13.13 PMBL,Hodgkin lymphoma CIITA
RNF213 17q25.3 ALCL ALK
RNF217-AS1 6q22.33 B-ALL ETV6
RNF43 17q23.2 cholangiocarcinoma,ovary,pancreas
ROS1 6q22 glioblastoma,NSCLC,Spitzoid tumour GOPC,SDC4,SLC34A2,EZR,LRIG3,HLA-A,MYO5A,PPFIBP1,ERC1,CLIP1,TPM3,ZCCHHC8,KIAA1598,PWWP2A
RPL10 Xq28 T-ALL
RPL22 1p36.31 AML,CML RUNX1
RPL5 1p22.1 T-ALL
RPN1 3q21.3-q25.2 AML MECOM
RSPO2 8q23.1 colorectal EIF3E
RSPO3 6q22.33 colorectal PTPRK
RUNDC2A 16p13.13 PMBL,Hodgkin lymphoma CIITA
RUNX1 21q22.3 AML,preB- ALL,T-ALL RPL22,MECOM,CBFA2T3,RUNX1T1,ETV6,AFF3
RUNX1T1 8q22 AML KMT2A,RUNX1
SDC4 20q12 NSCLC ROS1
SET 9q34 AML NUP214
SETBP1 18q21.1 aCML,sAML,MDS/MPN-U,CMML,JMML NUP98
SETD2 3p21.31 clear cell renal carcinoma
SF3B1 2q33.1 myelodysplastic syndrome
SFPQ 1p34.3 papillary renal TFE3
SH2B3 12q24.12 MPN,sAML,erythrocytosis,B-ALL
SH3GL1 19p13.3 AL KMT2A
SLC34A2 4p15.2 NSCLC ROS1
SLC45A3 1q32 prostate ETV1,ETV5,ELK4,ERG,BRAF
SMAD4 18q21.1 colorectal,pancreatic,small intestine
SMARCA4 19p13.2 NSCLC,SCCOHT
SMARCB1 22q11 malignant rhabdoid
SMARCD1 12q13-q14 breast
SMO 7q31-q32 skin basal cell
SND1 7q31.3 pancreas acinar carcinoma BRAF
SOCS1 16p13.13 Hodgkin lymphoma,PMBL
SOX2 3q26.3-q27 NSCLC,oesophageal squamous carcinoma
SPECC1 17p11.2 JMML PDGFRB
SPEN 1p36 SMZL,adenoid cystic carcinoma,DLBCL
SPOP 17q21.33 prostate,serous endometrial
SRGAP3 3p25.3 pilocytic astrocytoma RAF1
SRSF2 17q25 MDS,CLL
SRSF3 6p21 follicular lymphoma BCL6
SS18 18q11.2 synovial sarcoma SSX1,SSX2,SSX4
SS18L1 20q13.3 synovial sarcoma SSX1
SSX1 Xp11.23-p11.22 synovial sarcoma SS18
SSX2 Xp11.23-p11.22 synovial sarcoma SS18
SSX4 Xp11.23 synovial sarcoma SS18
STAG2 Xq25 bladder carcinoma,glioblastoma,melanoma,Ewing's sarcoma,myeloid neoplasms
STAT3 17q21.31 T-cell large granular lymphocytic leukaemia
STAT5B 17q11.2 large granular lymphocytic leukaemia,skin basal cell,APL RARA
STAT6 12q13 solitary fibrous tumour,meningeal haemangiopericytoma NAB2
STIL 1p32 T-ALL TAL1
STK11 19p13.3 NSCLC,pancreatic
STRN 2p22.2 anaplastic thyroid,papillary thyroid,lung ALK
SUFU 10q24.32 medulloblastoma
SUZ12 17q11.2 endometrial stromal tumour JAZF1
SYK 9q22 MDS,peripheral T-cell lymphoma ETV6,ITK
TAF15 17q11.1-q11.2 extraskeletal myxoid chondrosarcoma,ALL NR4A3,CHN1,ZNF384
TAL1 1p32 lymphoblastic leukaemia/biphasic TRD,STIL
TAL2 9q31 T-ALL TRB
TBL1XR1 3q26.32 splenic marginal zone lymphoma,primary central nervous system lymphoma,colorectal carcinoma,gallbladder carcinoma
TBX3 12q24.21 breast
TCEA1 8q11.2 salivary adenoma PLAG1
TCF12 15q21 extraskeletal myxoid chondrosarcoma NR4A3
TCF3 19p13.3 pre B-ALL PBX1,HLF,TFPT
TCF7L2 10q25.3 colorectal VTI1A
TCL1A 14q32.1 T-CLL TRA
TCL6 14q32.1 T-ALL TRA
TERT 5p15.33 melanoma,glioblastoma,hepatocellular carcinoma,bladder,skin basal cell,skin squamous cell,mesothelioma,medulloblastoma,other tumour types
TET1 10q21 AML KMT2A
TET2 4q24 MDS
TFE3 Xp11.22 papillary renal,alveolar soft part sarcoma,renal SFPQ,ASPSCR1,PRCC,NONO,CLTC
TFEB 6p21 renal cell carcinoma (childhood epithelioid) ALPHA
TFG 3q11-q12 papillary thyroid,ALCL,NSCLC,extraskeletal myxoid chondrosarcoma NTRK1,ALK,NR4A3
TFPT 19q13 pre-B ALL TCF3
TFRC 3q29 NHL BCL6
THRAP3 1p34.3 aneurysmal bone cyst USP6
TLX1 10q24 T-ALL TRB,TRD
TLX3 5q35.1 T-ALL BCL11B
TMPRSS2 21q22.3 prostate ERG,ETV1,ETV4,ETV5
TNFAIP3 6q23 marginal zone B-cell lymphomas,Hodgkin lymphoma,PMBL
TNFRSF14 1p36.32 follicular lymphoma
TNFRSF17 16p13.1 intestinal T-cell lymphoma IL2
TOP1 20q12-q13.1 AML* NUP98
TP53 17p13 breast,colorectal,lung,sarcoma,adrenocortical,glioma,Spitzoid tumour,multiple other tumour types NTRK1
TPM3 1q22-q23 papillary thyroid,ALCL,NSCLC,Spitzoid tumour NTRK1,ALK,ROS1
TPM4 19p13.1 ALCL ALK
TPR 1q25 papillary thyroid,NSCLC NTRK1,ALK
TRA 14q11.2 T-ALL ATL,OLIG2,MYC,TCL1A,TCL6,MTCP1,TCL6
TRAF7 16p13.3 meningioma
TRB 7q34 T-ALL HOX11,LCK,NOTCH1,TAL2,LYL1
TRD 14q11.2 T-cell leukaemia TAL1,HOX11,TLX1,LMO1,LMO2,RANBP17
TRIM24 7q32-q34 APL RARA
TRIM27 6p22 papillary thyroid RET
TRIM33 1p13 papillary thyroid RET
TRIP11 14q31-q32 AML PDGFRB
TRRAP 7q21.2-q22.1 melanoma
TSC1 9q34 renal cell carcinoma,bladder carcinoma
TSC2 16p13.3 pulmonary lymphangioleiomyomatosis (LAM),renal angiomyolipoma,HNSCC
TSHR 14q31 toxic thyroid adenoma
TTL 2q13 ALL ETV6
U2AF1 21q22.3 CLL,MDS
UBR5 8q22 mantle cell lymphoma,gastric,colorectal
USP6 17p13 aneurysmal bone cyst COL1A1,CDH11,CNBP,OMD,THRAP3
VHL 3p25 renal,haemangioma,pheochromocytoma
VTI1A 10q25.2 colorectal TCF7L2
WHSC1 4p16.3 MM IGH
WHSC1L1 8p12 AML NUP98
WIF1 12q14.3 pleomorphic salivary gland adenoma HMGA2
WT1 11p13 Wilms tumour,desmoplastic small round cell tumour EWSR1
WWTR1 3q23-q24 epithelioid haemangioendothelioma CAMTA1
XPO1 2p15 CLL
YWHAE 17p13.3 endometrial stromal sarcoma NUTM2A,NUTM2B
ZBTB16 11q23.1 APL RARA
ZCCHC8 12q24.31 Spitzoid tumour ROS1
ZNF198 13q11-q12 MPN,NHL FGFR1
ZNF278 22q12-q14 Ewing sarcoma EWSR1
ZNF331 19q13.3-q13.4 follicular thyroid adenoma Unknown
ZNF384 12p13 ALL EWSR1,TAF15
ZNF521 18q11.2 ALL PAX5
ZRSR2 Xp22.1 MDS,CLL