Cancer genes that have missense mutations.

This table is a list of the cancer genes that are characterised by missense mutations. The full version of this table can be downloaded here .This is part of Table 1 in Futreal et al.

Symbol	Name	Entrez GeneID	Tumour Types (Somatic Mutations)	Tumour Types (Germline Mutations)	Cancer Syndrome	Synonyms
ABL1	v-abl Abelson murine leukemia viral oncogene homolog 1	25	CML, ALL, T-ALL			25, ABL, ABL1, ENSG00000097007, JTK7, P00519, bcr/abl, c-ABL, p150, v-abl
AKT1	v-akt murine thymoma viral oncogene homolog 1	207	breast, colorectal, ovarian, NSCLC			207, AKT, AKT1, AKT1_NEW, B0LPE5, B2RAM5, B3KVH4, B3KXD7, B7Z5R1, CCDS9994, ENSG00000142208, MGC99656, P31749, PKB, PKB-ALPHA, PRKBA, Q9BV07, RAC, RAC-ALPHA
ALK	anaplastic lymphoma kinase (Ki-1)	238	ALCL, NSCLC, Neuroblastoma	neuroblastoma	Familial neuroblastoma	238, ALK, CD246, ENSG00000171094, Q9UM73, TFG/ALK
APC	adenomatous polyposis of the colon gene	324	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	Adenomatous polyposis coli; Turcot syndrome	324, APC, CCDS4107.1, DP2, DP2_5, DP3, ENSG00000134982, FAP, FPC, GS, P25054
ARID1A	AT rich interactive domain 1A (SWI-like)	8289	clear cell ovarian carcinoma, RCC			8289, ARID1A, B120, BAF250, BAF250a, BM029, C1orf4, ENSG00000117713, P270, RP1-50O24_1, SMARCF1
ASXL1	additional sex combs like 1	171023	MDS, CMML			171023, ASXL1, CCDS13201.1, ENSG00000171456, KIAA0978, MGC117280, MGC71111, Q498B9, Q6P1M8, Q8IXJ9
ATM	ataxia telangiectasia mutated	472	T-PLL	leukemia, lymphoma, medulloblastoma, glioma	Ataxia-telangiectasia	472, AT1, ATA, ATC, ATD, ATDC, ATE, ATM, DKFZp781A0353, ENSG00000149311, MGC74674, Q13315, TEL1, TELO1
ATRX	alpha thalassemia/mental retardation syndrome X-linked	546	Pancreatic neuroendocrine tumors			546, A4LAA3, A8MTN6, ATR2, ATRX, ATRX_ENST00000373344, B4DHH8, B4DLE1, B4DLW1, B7Z1D8, CCDS14434, D3DTE2, MGC2094, MRXHF1, P46100, Q86U63, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX
BAP1	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	8314	uveal melanoma, breast, NSCLC, RCC	mesothelioma, uveal melanoma		8314, BAP1, CCDS2853.1, DKFZp686N04275, ENSG00000163930, FLJ35406, FLJ37180, HUCEP-13, KIAA0272, Q92560, hucep-6
BCL6	B-cell CLL/lymphoma 6	604	NHL, CLL			604, BCL5, BCL6, BCL6A, CCDS3289.1, ENSG00000113916, LAZ3, P41182, ZBTB27, ZNF51
BHD	folliculin, Birt-Hogg-Dube syndrome	201163		renal, fibrofolliculomas, trichodiscomas	Birt-Hogg-Dube syndrome	201163, BHD, ENSG00000154803, FLCL, FLCN, MGC17998, MGC23445
BLM	Bloom Syndrome	641		leukemia, lymphoma, skin squamous cell , other cancers	Bloom Syndrome	641, BLM, BS, CCDS10363.1, ENSG00000197299, MGC126616, MGC131618, MGC131620, RECQ2, RECQL2, RECQL3
BMPR1A	bone morphogenetic protein receptor, type IA	657		gastrointestinal polyps	Juvenile polyposis	657, ACVRLK3, ALK3, BMPR1A, CCDS7378.1, CD292, ENSG00000107779, P36894
BRAF	v-raf murine sarcoma viral oncogene homolog B1	673	melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma			673, B-raf 1, B-raf1, BRAF, BRAF1, CCDS5863.1, ENSG00000157764, MGC126806, MGC138284, P15056, RAFB1
BRCA1	familial breast/ovarian cancer gene 1	672	ovarian	breast, ovarian	Hereditary breast/ovarian cancer	672, BRCA1, BRCAI, BRCC1, ENSG00000012048, IRIS, PSCP, RNF53
BRCA2	familial breast/ovarian cancer gene 2	675	breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)	Hereditary breast/ovarian cancer	675, BRCA2, BRCC2, ENSG00000139618, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, RP11-298P3_4
BRIP1	BRCA1 interacting protein C-terminal helicase 1	83990		AML, leukemia, breast	Fanconi anaemia J, breast cancer susceptiblity	83990, BACH1, BRIP1, CCDS11631.1, ENSG00000136492, FANCJ, FLJ90232, MGC126521, MGC126523, OF, Q9BX63
BUB1B	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)	701		rhabdomyosarcoma	Mosaic variegated aneuploidy	701, BUB1B, BUB1beta, BUBR1, Bub1A, CCDS10053.1, ENSG00000156970, MAD3L, O60566, SSK1, hBUBR1
CARD11	caspase recruitment domain family, member 11	84433	DLBCL			84433, BIMP3, CARD11, CARMA1, CCDS5336.1, ENSG00000198286, MGC133069, Q9BXL7
CBL	Cas-Br-M (murine) ecotropic retroviral transforming	867	AML, JMML, MDS			867, C-CBL, CBL, CBL2, CCDS8418.1, ENSG00000110395, RNF55
CBLB	Cas-Br-M (murine) ecotropic retroviral transforming sequence b	868	AML			868, CBLB, CCDS2948.1, DKFZp686J10223, DKFZp779A0729, DKFZp779F1443, ENSG00000114423, FLJ36865, FLJ41152, Nbla00127, RNF56
CD79B	CD79b molecule, immunoglobulin-associated beta	974	DLBCL			974, B29, CCDS11655.1, CD79B, ENSG00000007312, IGB, P40259
CDH1	cadherin 1, type 1, E-cadherin (epithelial) (ECAD)	999	lobular breast, gastric	gastric	Familial gastric carcinoma	999, Arc-1, CCDS10869.1, CD324, CDH1, CDHE, ECAD, ENSG00000039068, LCAM, P12830, UVO, uvomorulin
CDK12	cyclin-dependent kinase 12	51755	serous ovarian			51755, CCDS11337.1, CDK12, CRK7, CRKR, CRKRS, ENSG00000167258, KIAA0904, Q9NYV4
CDK4	cyclin-dependent kinase 4	1019		melanoma	Familial malignant melanoma	1019, CCDS8953.1, CDK4, CMM3, ENSG00000135446, MGC14458, P11802, PSK-J3
CDKN2A	cyclin-dependent kinase inhibitor 2A (p16(INK4a)) gene	1029	melanoma, multiple other tumour types	melanoma, pancreatic	Familial malignant melanoma	1029, ARF, CDK4I, CDKN2, CDKN2A, CMM2, ENSG00000147889, INK4, INK4a, MLM, MTS1, P42771, TP16, p14, p14ARF, p16, p16INK4, p16INK4a, p19
CEBPA	CCAAT/enhancer binding protein (C/EBP), alpha	1050	AML, MDS			1050, C/EBP-alpha, CEBP, CEBPA, P49715
CIC	capicua homolog	23152	oligodendroglioma			23152, CCDS12601.1, CIC, ENSG00000079432, KIAA0306, Q96RK0
COPEB	core promoter element binding protein (KLF6)	1316	prostate, glioma			1316, BCD1, CCDS7060.1, COPEB, CPBP, DKFZp686N0199, ENSG00000067082, GBF, KLF6, PAC1, RP11-184A2_1, ST12, ZF9, Zf9
CREBBP	CREB binding protein (CBP)	1387	ALL, AML, DLBCL, B-NHL			1387, CBP, CCDS10509.1, CREBBP, ENSG00000005339, RSTS, RTS
CRLF2	cytokine receptor-like factor 2	64109	B-ALL, Downs associated ALL			CRLF2, ENSG00000205755, Q4V300
CTNNB1	catenin (cadherin-associated protein), beta 1	1499	colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma			1499, CCDS2694.1, CTNNB, CTNNB1, ENSG00000168036, P35222
CYLD	familial cylindromatosis gene	1540	cylindroma	cylindroma	Familial cylindromatosis	1540, CDMT, CYLD, CYLD1, CYLDI, EAC, ENSG00000083799, FLJ20180, FLJ31664, HSPC057, KIAA0849, USPL2
DAXX	death-domain associated protein	1616	Pancreatic neuroendocrine tumors			1616, A2AB94, BING2, CCDS4776.1, DAP6, DAQB-126H3_2, DAXX, ENSG00000206206, MGC126245, MGC126246, Q4VX54, Q53F85, Q59FG7, Q5STK9, Q5STR5, Q9UER7
DDB2	damage-specific DNA binding protein 2	1643		skin basal cell, skin squamous cell, melanoma	Xeroderma pigmentosum (E)	1643, CCDS7927.1, DDB2, ENSG00000134574, FLJ34321, Q92466
DICER1	dicer 1, ribonuclease type III	23405	sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma	Familial Pleuropulmonary Blastoma	23405, CCDS9931.1, DICER1, Dicer, ENSG00000100697, HERNA, K12H4_8-LIKE, KIAA0928, Q5D0K4, Q5D0K5, Q9UFF3, Q9UPY3
DNMT3A	DNA (cytosine-5-)-methyltransferase 3 alpha	1788	AML			1788, CCDS33157.1, DNMT3A, DNMT3A2, ENSG00000119772, M_HsaIIIA, Q59HC6, Q6PJ37, Q86TE8, Q86XF5, Q8IZV0, Q8WVA9, Q9Y6K1
EGFR	epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	1956	glioma, NSCLC	NSCLC	Familial lung cancer	1956, CCDS5514.1, EGFR, ENSG00000146648, ERBB, ERBB1, P00533, mENA
EP300	300 kd E1A-Binding protein gene	2033	colorectal, breast, pancreatic, AML, ALL, DLBCL			2033, CCDS14010.1, ENSG00000100393, EP300, RP1-85F18_1, p300
ERBB2	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	2064	breast, ovarian, other tumour types, NSCLC, gastric			2064, ENSG00000141736, ERBB2, HER-2, HER-2/neu, HER2, NEU, NGL, P04626, TKR1, c-erb B2, c-erbB2
ERCC2	excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	2068		skin basal cell, skin squamous cell, melanoma	Xeroderma pigmentosum (D)	2068, CCDS33049.1, COFS2, EM9, ENSG00000104884, ERCC2, MAG, MGC102762, MGC126218, MGC126219, P18074, Q2TB78, Q7KZU6, TTD, XPD
ERCC3	excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)	2071		skin basal cell, skin squamous cell, melanoma	Xeroderma pigmentosum (B)	2071, BTF2, CCDS2144.1, ENSG00000163161, ERCC3, GTF2H, P19447, Q53HW5, Q53QM0, RAD25, TFIIH, XPB
ERCC4	excision repair cross-complementing rodent repair deficiency, complementation group 4	2072		skin basal cell, skin squamous cell, melanoma	Xeroderma pigmentosum (F)	2072, A0PJA9, CCDS32390.1, ENSG00000175595, ERCC4, Q92889, RAD1, XPF
ERCC5	excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	2073		skin basal cell, skin squamous cell, melanoma	Xeroderma pigmentosum (G)	2073, COFS3, ENSG00000134899, ERCC5, ERCM2, RP11-484I6_5, UVDR, XPG, XPGC
EXT1	multiple exostoses type 1 gene	2131		exostoses, osteosarcoma	Multiple Exostoses Type 1	2131, CCDS6324.1, ENSG00000182197, EXT, EXT1, Q16394, ttv
EXT2	multiple exostoses type 2 gene	2132		exostoses, osteosarcoma	Multiple Exostoses Type 2	2132, CCDS7908.1, ENSG00000151348, EXT2, Q6NUL1, Q93063, SOTV
EZH2	enhancer of zeste homolog 2	2146	DLBCL			2146, B2RAQ1, B3KS30, CCDS5891.1, CCDS5892, ENSG00000106462, ENX-1, ENX1, EZH1, EZH2, EZH2_ENST00000350995, KMT6, MGC9169, Q15910, Q6R125, Q75MG3, Q75MP9, Q75MQ0, Q96FI6
FAM46C	family with sequence similarity 46, member C	54855	MM			54855, A3KMG2, CCDS896.1, ENSG00000183508, FAM46C, FLJ20202, Q5VWP2
FANCA	Fanconi anemia, complementation group A	2175		AML, leukemia	Fanconi anaemia A	2175, ENSG00000187741, FA, FA-H, FA1, FAA, FACA, FAH, FANCA, FANCH, MGC75158
FANCC	Fanconi anemia, complementation group C	2176		AML, leukemia	Fanconi anaemia C	2176, ENSG00000158169, FA3, FAC, FACC, FANCC, FLJ14675, RP11-80I15_2
FANCD2	Fanconi anemia, complementation group D2	2177		AML, leukemia	Fanconi anaemia D2	2177, CCDS2595.1, DKFZp762A223, ENSG00000144554, FA-D2, FA4, FACD, FAD, FAD2, FANCD, FANCD2, FLJ23826
FANCG	Fanconi anemia, complementation group G	2189		AML, leukemia	Fanconi anaemia G	2189, CCDS6574.1, ENSG00000221829, FAG, FANCG, O15287, Q53XM5, XRCC9
FBXO11	F-box protein 11	80204	DLBCL			80204, A1L491, CCDS1837.1, ENSG00000138081, FBX11, FBXO11, FLJ12673, MGC44383, PRMT9, Q53RT5, Q86XK2, UG063H01, VIT1
FBXW7	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)	55294	colorectal, endometrial, T-ALL			55294, AGO, CCDS3777.1, CCDS3778.1, CDC4, DKFZp686F23254, ENSG00000109670, FBW7, FBX30, FBXW6, FBXW7, FBXW7_NM_018315_2, FLJ11071, SEL-10, SEL10
FGFR2	fibroblast growth factor receptor 2	2263	gastric. NSCLC, endometrial			2263, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, ENSG00000066468, FGFR2, JWS, K-SAM, KGFR, TK14, TK25
FGFR3	fibroblast growth factor receptor 3	2261	bladder, MM, T-cell lymphoma			2261, ACH, CCDS3353.1, CD333, CEK2, ENSG00000068078, FGFR3, HSFGFR3EX, JTK4, P22607
FH	fumarate hydratase	2271		lieomyomatosis, renal	hereditary leiomyomatosis and renal cell cancer	2271, CCDS1617.1, ENSG00000091483, FH, HLRCC, LRCC, MCL, MCUL1, P07954, Q5SY06
FLT3	fms-related tyrosine kinase 3	2322	AML, ALL			2322, CD135, ENSG00000122025, FLK2, FLT3, P36888, RP11-153M24_3, STK1
FOXL2	forkhead box L2	668	granulosa-cell tumour of the ovary			668, BPES, BPES1, CCDS3105.1, ENSG00000183770, FOXL2, P58012, PFRK, PINTO, POF3, Q05CX9, Q4JHB5, Q4JHB7, Q53ZD3
GATA1	GATA binding protein 1 (globin transcription factor 1)	2623	megakaryoblastic leukemia of Downs Syndrome			2623, CCDS14305.1, ENSG00000102145, ERYF1, GATA1, GF1, NFE1, P15976
GATA2	GATA binding protein 2	2624	AML(CML blast transformation)			2624, CCDS3049.1, ENSG00000179348, GATA2, MGC2306, NFE1B, P23769, Q53YE0, Q96BH0, Q96BH8
GNA11	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	2767	uveal melanoma			2767, CCDS12103.1, ENSG00000088256, GNA-11, GNA11
GNAQ	guanine nucleotide binding protein (G protein), q polypeptide	2776	uveal melanoma			2776, CCDS6658.1, ENSG00000156052, G-ALPHA-q, GAQ, GNAQ, P50148, Q5T8F3, Q6NT27, RP11-494N1_1
GNAS	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	2778	pituitary adenoma			2778, AHO, C20orf45, CCDS13471.1, ENSG00000087460, GNAS, GNAS1, GNASXL, GNAS_NM_016592_1, GPSA, GSA, GSP, Gnas, MGC33735, NESP, NESP55, PHP1A, PHP1B, POH, RP4-543J19_4, SCG6, XL, XL2, XLalphas, dJ309F20_1_1, dJ806M20_3_3
GPC3	glypican 3	2719		Wilms tumour	Simpson-Golabi-Behmel syndrome	2719, AC002420_1, CCDS14638.1, DGSX, ENSG00000147257, GPC3, OCI-5, P51654, Q1MTS4, Q2L880, Q53H15, Q8IYG2, SDYS, SGB, SGBS, SGBS1
HRAS	v-Ha-ras Harvey rat sarcoma viral oncogene homolog	3265	infrequent sarcomas, rare other types	rhadomyosarcoma, ganglioneuroblastoma, bladder	Costello syndrome	3265, CCDS7698.1, ENSG00000174775, HRAS, HRAS1, K-ras, N-ras, P01112, RASH1, c-bas/has
HRPT2	hyperparathyroidism 2	3279	parathyroid adenoma	parathyroid adenoma, mulitiple ossifying jaw fibroma	Hyperparathyroidism-jaw tumor syndrome	79577, C1orf28, CCDS1382.1, CDC73, ENSG00000134371, FLJ23316, HPT-JT, HRPT2, Q6P1J9, Q6PHR8
IDH1	isocitrate dehydrogenase 1 (NADP+), soluble	3417	gliobastoma			3417, CCDS2381.1, ENSG00000138413, IDH, IDH1, IDP, O75874, PICD, Q0QER2, Q567U4, Q6FHQ6, Q6FI37, Q6FIA4, Q7Z3V0
IL7R	interleukin 7 receptor	146661	ALL			3575, CCDS3911.1, CD127, CDW127, ENSG00000168685, IL-7R-alpha, IL7R, P16871, Q05CU8, Q6NSP4, Q6NWM0, Q6NWM1, Q6NWM2, Q6NWM3
JAK1	Janus kinase 1	3716	ALL			3716, CCDS41346, ENSG00000162434, JAK1, JAK1A, JAK1B, JAK1_ENST00000342505, JTK3, P23458, Q0VGA4, Q4LDX3, Q6P669, Q8IV82
JAK2	Janus kinase 2	3717	ALL, AML, MPD, CML			3717, A8K910, A9QVL8, B4DYV1, CCDS6457, ENSG00000096968, JAK2, JAK2_ENST00000381652, JTK10, O60674, Q506Q0, Q52R86, Q8IXP2
JAK3	Janus kinase 3	3718	acute megakaryocytic leukemia,			3718, CCDS12366.1, ENSG00000105639, JAK-3, JAK3, JAK3_HUMAN, JAKL, L-JAK, LJAK, P52333
KDR	vascular endothelial growth factor receptor 2	3791	NSCLC, angiosarcoma			3791, CCDS3497.1, CD309, ENSG00000128052, FLK1, KDR, P35968, VEGFR, VEGFR2
KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	3815	GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Familial gastrointestinal stromal tumour	3815, C-Kit, CD117, ENSG00000157404, KIT, P10721, SCFR
KRAS	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog	3845	pancreatic, colorectal, lung, thyroid, AML, others			3845, C-K-RAS, CCDS8702.1, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, KI-RAS, KRAS, KRAS1, KRAS2, NS3, P01116, RASK2
MADH4	Homolog of Drosophila Mothers Against Decapentaplegic 4 gene	4089	colorectal, pancreatic, small intestine	gastrointestinal polyps	Juvenile polyposis	4089, CCDS11950.1, DPC4, ENSG00000141646, JIP, MADH4, Q13485, Q9BYG6, SMAD4
MAP2K4	mitogen-activated protein kinase kinase 4	6416	pancreatic, breast, colorectal			6416, CCDS11162.1, ENSG00000065559, JNKK, JNKK1, MAP2K4, MAPKK4, MEK4, MKK4, P45985, PRKMK4, SEK1, SERK1
MEN1	multiple endocrine neoplasia type 1 gene	4221	parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid	Multiple Endocrine Neoplasia Type 1	4221, CCDS31600.1, ENSG00000133895, MEN1, Q9BUF0, Q9GZQ5, Q9UE24
MET	met proto-oncogene (hepatocyte growth factor receptor)	4233	papillary renal, head-neck squamous cell	papillary renal	Familial Papillary Renal Cancer	4233, AUTS9, ENSG00000105976, HGFR, MET, P08581, RCCP2
MLH1	E.coli MutL homolog gene	4292	colorectal, endometrial, ovarian, CNS	colorectal, endometrial, ovarian, CNS	Hereditary non-polyposis colorectal cancer, Turcot syndrome	4292, CCDS2663.1, COCA2, ENSG00000076242, FCC2, HNPCC, HNPCC2, MGC5172, MLH1, P40692, Q0ZAJ3, Q0ZAJ6, Q53GX1, Q5GJ64, Q64FK0, Q6VBB8, hMLH1
MLL2	myeloid/lymphoid or mixed-lineage leukemia 2	8085	medulloblastoma, renal			8085, ENSG00000167548, MLL2
MPL	myeloproliferative leukemia virus oncogene, thrombopoietin receptor	4352	MPD	MPD	Familial essential thrombocythemia	4352, C-MPL, CCDS483.1, CD110, ENSG00000117400, MPL, MPLV, P40238, Q308M1, Q5JUZ0, RP1-92O14_1, TPOR
MSH2	mutS homolog 2 (E. coli)	4436	colorectal, endometrial, ovarian	colorectal, endometrial, ovarian	Hereditary non-polyposis colorectal cancer	4436, CCDS1834.1, COCA1, ENSG00000095002, FCC1, HNPCC, HNPCC1, MSH2, P43246, Q0ZAI9, Q0ZAJ1, Q53FK0, Q53GS1, Q53RU4, Q6VBB7
MSH6	mutS homolog 6 (E. coli)	2956	colorectal	colorectal, endometrial, ovarian	Hereditary non-polyposis colorectal cancer	2956, CCDS1836.1, ENSG00000116062, GTBP, HNPCC5, HSAP, MSH6, P52701, Q1L838, Q3SWU9
MUTYH	mutY homolog (E. coli)	4595		colorectal	Adenomatous polyposis coli	4595, CCDS520.1, ENSG00000132781, MGC4416, MUTYH, MYH, MYHbeta, hMYH
MYD88	myeloid differentiation primary response gene (88)	4615	ABC-DLBCL			4615, B4DKU4, B4DU08, B4E3D6, CCDS2674, MYD88, MYD88D, MYD88_ENST00000396334, Q99836
NBS1	Nijmegen breakage syndrome 1 (nibrin)	4683		NHL, glioma, medulloblastoma, rhabdomyosarcoma	Nijmegen breakage syndrome	4683, AT-V1, AT-V2, ATV, CCDS6249.1, ENSG00000104320, FLJ10155, MGC87362, NBN, NBS, NBS1
NF1	neurofibromatosis type 1 gene	4763	neurofibroma, glioma	neurofibroma, glioma	Neurofibromatosis type 1	4763, ENSG00000196712, NF1, NFNS, P21359, Q14931, Q4W6X4, Q7Z3J5, Q9UMU3
NF2	neurofibromatosis type 2 gene	4771	meningioma, acoustic neuroma, renal	meningioma, acoustic neuroma	Neurofibromatosis type 2	4771, ACN, BANF, CCDS13861.1, ENSG00000186575, Merlin, NF2, P35240, Q9NRW8, SCH
NFE2L2	nuclear factor (erythroid-derived 2)-like 2 (NRF2)	4780	NSCLC, HNSCC			4780, CCDS42782.1, ENSG00000116044, NFE2L2, NRF2, Q16236, Q9BZF8
NOTCH1	Notch homolog 1, translocation-associated (Drosophila) (TAN1)	4851	T-ALL			4851, ENSG00000148400, NOTCH1, P46531, Q59ED8, Q5SXM3, TAN1, hN1
NOTCH2	Notch homolog 2	4853	marginal zone lymphoma, DLBCL			4853, AGS2, CCDS908.1, ENSG00000134250, NOTCH2, Q04721, Q13560, Q5VTD0, Q6IQ50, Q96JU8, Q9UFD5, hN2
NRAS	neuroblastoma RAS viral (v-ras) oncogene homolog	4893	melanoma, MM, AML, thyroid			4893, ENSG00000213281, N-ras, NRAS, NRAS1, P01111
PALB2	partner and localizer of BRCA2	79728		Wilms tumor, medulloblastoma, AML ,breast	Fanconi anaemia N, breast cancer susceptibility	79728, ENSG00000083093, PALB2
PAX5	paired box gene 5 (B-cell lineage specific activator protein)	5079	NHL, ALL, B-ALL			5079, BSAP, CCDS6607.1, ENSG00000196092, PAX5, Q02548, Q5VVI9
PBRM1	polybromo 1	55193	clear cell renal carcinoma, breast			55193, BAF180, C9J053, C9J409, C9J9L6, C9JCJ2, C9JPI5, C9JQF1, CCDS2860, MGC156155, MGC156156, PB1, PBRM1, Q6IRX1, Q9NUX9
PDGFRA	platelet-derived growth factor, alpha-receptor	5156	GIST, idiopathic hypereosinophilic syndrome			5156, CCDS3495.1, CD140A, CD140a, ENSG00000134853, MGC74795, P16234, PDGFR2, PDGFRA, Rhe-PDGFRA
PHOX2B	paired-like homeobox 2b	8929	neuroblastoma	neuroblastoma	familial neuroblastoma	8929, PHOX2B
PIK3CA	phosphoinositide-3-kinase, catalytic, alpha polypeptide	5290	colorectal, gastric, gliobastoma, breast			5290, ENSG00000121879, MGC142161, MGC142163, P42336, PI3K, PIK3CA, p110-alpha
PIK3R1	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	5295	gliobastoma, ovarian, colorectal			5295, CCDS3993.1, CCDS3995.1, ENSG00000145675, GRB1, P27986, PIK3R1, p85-ALPHA
PMS1	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	5378		colorectal, endometrial, ovarian	Hereditary non-polyposis colorectal cancer	5378, CCDS2302.1, DKFZp781M0253, ENSG00000064933, HNPCC3, PMS1, PMSL1, hPMS1
PMS2	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	5395		colorectal, endometrial, ovarian, medulloblastoma, glioma	Hereditary non-polyposis colorectal cancer, Turcot syndrome	5395, CCDS5343.1, ENSG00000122512, HNPCC4, H_DJ0042M02_9, PMS2, PMS2CL, PMSL2
PPP2R1A	protein phosphatase 2, regulatory subunit A, alpha	5518	clear cell ovarian carcinoma			5518, CCDS12849.1, ENSG00000105568, MGC786, P30153, PPP2R1A, PR65A, Q6ICQ3, Q96DH3
PRDM1	PR domain containing 1, with ZNF domain	639	DLBCL			639, BLIMP1, CCDS5054, ENSG00000057657, MGC118922, MGC118923, MGC118924, MGC118925, O75626, PRDI-BF1, PRDM1, Q5T4E8, Q658W0, RP1-134E15_1
PRKAR1A	protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)	5573	papillary thyroid	myxoma, endocrine, papillary thyroid	Carney complex	5573, CAR, CCDS11678.1, CNC, CNC1, DKFZp779L0468, ENSG00000108946, MGC17251, P10644, PKR1, PPNAD1, PRKAR1, PRKAR1A, Q68DQ4, Q96P62, TSE1
PTCH	Homolog of Drosophila Patched gene	5727	skin basal cell , medulloblastoma	skin basal cell, medulloblastoma	Nevoid Basal Cell Carcinoma Syndrome	5727, BCNS, CCDS6714.1, ENSG00000185920, FLJ26746, FLJ42602, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH1, Q13635, Q59FG5, Q5R1U7, Q5R1V0, Q5VZC2, Q6TKP8, Q6TKP9, Q6TKQ0, Q86XG7, RP11-435O5_3
PTEN	phosphatase and tensin homolog gene	5728	glioma, prostate, endometrial	harmartoma, glioma, prostate, endometrial	Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome	5728, BZS, ENSG00000171862, MGC11227, MHAM, MMAC1, P60484, PTEN, PTEN1, TEP1
PTPN11	protein tyrosine phosphatase, non-receptor type 11	5781	JMML, AML, MDS			5781, BPTP3, CCDS9163.1, CFC, ENSG00000179295, MGC14433, NS1, PTP-1D, PTP2C, PTPN11, Q06124, Q16344, SH-PTP2, SH-PTP3, SHP-2, SHP2
RB1	retinoblastoma gene	5925	retinoblastoma, sarcoma, breast, small cell lung	retinoblastoma, sarcoma, breast, small cell lung	Familial retinoblastoma	5925, ENSG00000139687, OSRC, P06400, RB, RB1
RET	ret proto-oncogene	5979	medullary thyroid, papillary thyroid, pheochromocytoma	medullary thyroid, papillary thyroid, pheochromocytoma	Multiple endocrine neoplasia 2A/2B	5979, CCDS7200.1, CDHF12, ENSG00000165731, HSCR1, MEN2A, MEN2B, MTC1, P07949, PTC, RET, RET-ELE1, RET51
SDHB	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	6390		paraganglioma, pheochromocytoma	Familial paraganglioma	6390, CCDS176.1, ENSG00000117118, IP, PGL4, SDH, SDH1, SDHB, SDHIP
SDHC	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	6391		paraganglioma, pheochromocytoma	Familial paraganglioma	6391, CYB560, CYBL, ENSG00000143252, PGL3, QPS1, SDH3, SDHC
SDHD	succinate dehydrogenase complex, subunit D, integral membrane protein	6392		paraganglioma, pheochromocytoma	Familial paraganglioma	6392, CBT1, CCDS31678.1, ENSG00000204370, O14521, PGL, PGL1, Q53XW5, SDH4, SDHD
SETD2	SET domain containing 2	29072	clear cell renal carcinoma			29072, ENSG00000181555, SETD2
SF3B1	splicing factor 3b, subunit 1, 155kDa	23451	myelodysplastic syndrome			23451, A0JLT9, A0PJH5, CCDS33356.1, ENSG00000115524, O75533, PRP10, PRPF10, Q32Q20, Q7Z497, Q9NTB4, SAP155, SF3B1, SF3b155
SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	6597	NSCLC			6597, BAF190, BRG1, CCDS12253.1, ENSG00000127616, FLJ39786, P51532, Q59FZ6, SMARCA4, SNF2, SNF2-BETA, SNF2L4, SNF2LB, SWI2, hSNF2b
SMO	smoothened homolog (Drosophila)	6608	skin basal cell			6608, CCDS5811.1, ENSG00000128602, Gx, NP_005622, Q99835, Q9Y2Y5, SMO, SMOH
SRSF2	serine/arginine-rich splicing factor 2	6427	MDS, CLL			6427, CCDS11749.1, Q01130, Q53FN0, SFRS2, SRSF2
STK11	serine/threonine kinase 11 gene (LKB1)	6794	NSCLC, pancreatic	jejunal harmartoma, ovarian, testicular, pancreatic	Peutz-Jeghers syndrome	6794, ENSG00000118046, LKB1, PJS, Q15831, STK11
TCF1	transcription factor 1, hepatic (HNF1)	6927	hepatic adenoma, hepatocellular ca	hepatic adenoma, hepatocellular ca	Familial Hepatic Adenoma	6927, CCDS9209.1, ENSG00000135100, HNF1, HNF1A, LFB1, MODY3, P20823, TCF1
TET2	tet oncogene family member 2	54790	MDS			54790, A7E237, B5MDU0, C3W8F4, ENSG00000168769, FLJ20032, KIAA1546, MGC125715, Q6N021, TET2, TET2-202
TNFRSF14	tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)	8764	follicular lymphoma			8764, ATAR, CCDS43.1, ENSG00000157873, HVEA, HVEM, LIGHTR, Q6IB95, Q8N634, Q92956, TNFRSF14, TR2
TNFRSF6	tumor necrosis factor receptor superfamily, member 6 (FAS)	355	TGCT, nasal NK/T lymphoma, skin squamous cell ca -burn scar-related			355, ALPS1A, APO-1, APT1, CCDS7393.1, CD95, ENSG00000026103, FAS, FAS1, FASTM, P25445, Q5T9P1, Q6ICT6, Q8IUB6, Q8IUB7, TNFRSF6
TP53	tumor protein p53	7157	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	Li-Fraumeni syndrome	7157, CCDS11118.1, ENSG00000141510, LFS1, P04637, P53, TP53, TRP53, p53
TSC1	tuberous sclerosis 1 gene	7248		hamartoma, renal cell	Tuberous sclerosis 1	7248, ENSG00000165699, KIAA0243, LAM, MGC86987, TSC, TSC1, hamartin
TSC2	tuberous sclerosis 2 gene	7249		hamartoma, renal cell	Tuberous sclerosis 2	7249, CCDS10458.1, ENSG00000103197, FLJ43106, LAM, TSC2, TSC4, tuberin
TSHR	thyroid stimulating hormone receptor	7253	toxic thyroid adenoma	thyroid adenoma		7253, CCDS9872.1, ENSG00000165409, LGR3, MGC75129, TSHR, hTSHR-I
U2AF1	U2 small nuclear RNA auxiliary factor 1	7307	CLL, MDS			7307, CCDS13694.1, DKFZp313J1712, ENSG00000160201, FP793, Q01081, Q71RF1, Q7Z780, RN, RNU2AF1, U2AF1, U2AF35, U2AFBP
VHL	von Hippel-Lindau syndrome gene	7428	renal, hemangioma, pheochromocytoma	renal, hemangioma, pheochromocytoma	von Hippel-Lindau syndrome	7428, A0PJF6, CCDS2597.1, ENSG00000134086, HRCA1, P40337, RCA1, VHL, VHL1
WAS	Wiskott-Aldrich syndrome	7454		lymphoma	Wiskott-Aldrich syndrome	7454, CCDS14303.1, ENSG00000015285, IMD2, P42768, THC, WAS, WASP
WRN	Werner syndrome (RECQL2)	7486		osteosarcoma, meningioma, others	Werner Syndrome	7486, A1KYY9, CCDS6082.1, ENSG00000165392, Q14191, Q59F09, RECQ3, RECQL2, WRN
WT1	Wilms tumour 1 gene	7490	Wilms, desmoplastic small round cell tumor	Wilms	Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor	7490, ENSG00000184937, GUD, WAGR, WIT-2, WT1, WT33
WTX	family with sequence similarity 123B (FAM123B)	139285	Wilms tumour			139285, CCDS14377.1, ENSG00000184675, FAM123B, FLJ39827, RP11-403E24_2, WTX
XPA	xeroderma pigmentosum, complementation group A	7507		skin basal cell, skin squamous cell, melanoma	Xeroderma pigmentosum (A)	7507, CCDS6729.1, ENSG00000136936, P23025, Q5T1U9, Q6LD02, XP1, XPA, XPAC
XPC	xeroderma pigmentosum, complementation group C	7508		skin basal cell, skin squamous cell, melanoma	Xeroderma pigmentosum (C)	7508, ENSG00000154767, XP3, XPC, XPCC
XPO1	exportin 1 (CRM1 homolog, yeast)	7514	CLL			7514, CCDS33205.1, CRM1, DKFZp686B1823, ENSG00000082898, O14980, XPO1
ZRSR2	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	8233	MDS, CLL			8233, ENSG00000169249, MGC142014, MGC142040, U2AF1-RS2, U2AF1L2, U2AF1RS2, URP, ZRSR2

A, amplification; AEL, acute eosinophilic leukemia; AL, acute leukemia; ALCL, anaplastic large-cell lymphoma; ALL, acute lymphocytic leukemia; AML, acute myelogenous leukemia; AML*, acute myelogenous leukemia (primarily treatment associated); APL, acute promyelocytic leukemia; B-ALL, B-cell acute lymphocytic leukaemia; B-CLL, B-cell Lymphocytic leukemia; B-NHL, B-cell Non-Hodgkin Lymphoma; CLL, chronic lymphatic leukemia; CML, chronic myeloid leukemia; CMML, chronic myelomonocytic leukemia; CNS, central nervous system; D, large deletion; DFSP, dermatofibrosarcoma protuberans; DLBL, diffuse large B-cell lymphoma; DLCL, diffuse large-cell lymphoma; Dom, dominant; E, epithelial; F, frameshift; GIST, gastrointestinal stromal tumour; JMML, juvenile myelomonocytic leukemia; L, leukaemia/lymphoma; M, mesenchymal; MALT, mucosa-associated lymphoid tissue lymphoma; MDS, myelodysplastic syndrome; Mis, Missense; MLCLS, mediastinal large cell lymphoma with sclerosis; MM, multiple myeloma; MPD, Myeloproliferative disorder; N, nonsense; NHL, non-Hodgkin lymphoma; NK/T, natural killer T cell; NSCLC, non small cell lung cancer; O, other; PMBL, primary mediastinal B-cell lymphoma; pre-B All, pre-B-cell acute lymphoblastic leukaemia; Rec, recesive; S, splice site; T, translocation; T-ALL, T-cell acute lymphoblastic leukemia; T-CLL, T-cell chronic lymphocytic leukaemia; TGCT, testicular germ cell tumour; T-PLL, T cell prolymphocytic leukaemia;