Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HEXB	3074	broad.mit.edu	37	5	74001087	74001087	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr5:74001087T>C	ENST00000511181.1	+	6	950	c.38T>C	c.(37-39)aTa>aCa	p.I13T	HEXB_ENST00000261416.7_Missense_Mutation_p.I238T			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	238					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	p.I238K(1)		endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CACTGGCACATAGTTGATGAC	0.328000													12	12					0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589		TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612000	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""								11	22					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77906580	77906580	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr15:77906580G>C	ENST00000355300.6	-	2	1843	c.1669C>G	c.(1669-1671)Ctc>Gtc	p.L557V	LINGO1_ENST00000561030.1_Missense_Mutation_p.L551V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	557					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCGATGATGAGGGTCTTGATG	0.597000													30	48					0	0	1	0	0
EGFL8	80864	broad.mit.edu	37	6	32135007	32135007	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr6:32135007A>G	ENST00000395512.1	+	6	679	c.574A>G	c.(574-576)Acc>Gcc	p.T192A	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.T192A			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	192						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGAGCCCCCAACCAGTGCCAG	0.662000													15	41					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039406	11039406	+	RNA	SNP	T	T	C	rs8134740	by1000genomes	TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr21:11039406T>C	ENST00000470054.1	-	0	797									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATTAGAAATCTGTTTTTCC	0.299000													8	69					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6501536	6501536	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr19:6501536G>A	ENST00000601152.1	-	2	205	c.80C>T	c.(79-81)aCg>aTg	p.T27M	TUBB4A_ENST00000264071.2_Silent_p.N52N|TUBB4A_ENST00000596926.1_Silent_p.N52N|TUBB4A_ENST00000540257.1_Silent_p.N52N|TUBB4A_ENST00000598006.1_Missense_Mutation_p.T38M			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	0					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CTGTGGCCTCGTTGTAGTACA	0.592000													30	63					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24657601	24657601	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr14:24657601C>T	ENST00000354464.6	-	3	361	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	62	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGTCGTCTGCGGGTCAGCAC	0.692000													3	36					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													4	35					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43813749	43813749	+	Silent	SNP	C	C	G			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr15:43813749C>G	ENST00000382031.1	+	5	823	c.792C>G	c.(790-792)ccC>ccG	p.P264P	MAP1A_ENST00000399453.1_Silent_p.P26P|MAP1A_ENST00000300231.5_Silent_p.P26P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	26						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TACTAGAGCCCCCCACCTCAG	0.577000													37	56					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271735	59271735	+	Silent	SNP	A	A	C			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr11:59271735A>C	ENST00000313253.1	+	1	687	c.687A>C	c.(685-687)gcA>gcC	p.A229A		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTCTCAGGCAGGAGGGGGCA	0.527000													72	114					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	628429	628429	+	Silent	SNP	C	C	T	rs142362312		TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr16:628429C>T	ENST00000321878.5	+	5	1152	c.993C>T	c.(991-993)ccC>ccT	p.P331P	PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000026218.5_Silent_p.P331P|PIGQ_ENST00000409527.2_Silent_p.P331P	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	331	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGGTGCTCCCGCCGGGCTCA	0.682000													4	52					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42877273	42877273	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr13:42877273G>A	ENST00000025301.2	+	8	4566	c.4391G>A	c.(4390-4392)aGc>aAc	p.S1464N		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1464				LDPYRNEVSQLYSFSTSLVHSITKDA -> CGPSVELSPWK WQTRCGREGNSWKRE (in Ref. 5; BAA92117).	intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTGGTTCACAGCATAACAAAA	0.378000													3	40					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579472	7579472	+	Missense_Mutation	SNP	G	G	C	rs1042522	byFrequency	TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr17:7579472G>C	ENST00000420246.2	-	4	347	c.215C>G	c.(214-216)cCc>cGc	p.P72R	TP53_ENST00000359597.4_Missense_Mutation_p.P72R|TP53_ENST00000269305.4_Missense_Mutation_p.P72R|TP53_ENST00000455263.2_Missense_Mutation_p.P72R|TP53_ENST00000445888.2_Missense_Mutation_p.P72R|TP53_ENST00000413465.2_Missense_Mutation_p.P72R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	72	Interaction with HRMT1L2.|Interaction with WWOX.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.R72P(3)|p.R72fs*51(3)|p.G59fs*23(3)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGGCCACGGGGGGAGCAGC	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	182					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67017761	67017761	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr11:67017761G>A	ENST00000529006.2	+	17	2706	c.2260G>A	c.(2260-2262)Gat>Aat	p.D754N	KDM2A_ENST00000530342.1_Missense_Mutation_p.D315N|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.D212N|KDM2A_ENST00000398645.2_Missense_Mutation_p.D754N	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGCCAGCCGCGATGAGCGCTT	0.632000													21	35					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8707376	8707376	+	Silent	SNP	A	A	T			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr17:8707376A>T	ENST00000311434.9	-	20	2327	c.2088T>A	c.(2086-2088)acT>acA	p.T696T	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	697					platelet activation	cytosol											CATCCCTGAAAGTGCGTTGAT	0.587000													14	18					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73806316	73806316	+	Silent	SNP	G	G	A			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr11:73806316G>A	ENST00000334126.7	-	17	3343	c.3117C>T	c.(3115-3117)caC>caT	p.H1039H	C2CD3_ENST00000313663.7_Silent_p.H1039H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1039						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGGATTGAGAGTGTTGAACTG	0.393000													32	65					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	23					0	0	1	0	0
DRD4	1815	broad.mit.edu	37	11	639803	639803	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr11:639803G>T	ENST00000176183.5	+	3	566	c.554G>T	c.(553-555)tGc>tTc	p.C185F		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	185					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CCCGCCGTGTGCCGCCTGGAG	0.711000													11	24					1.5842e-08	1.66758e-08	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	40					0	0	1	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs147500263	by1000genomes	TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr16:22545865G>C	ENST00000424340.1	+	7	1840	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCAGCTCACTGCCCTTCCACC	0.567000													26	266					0	0	1	0	0
WEE1	7465	broad.mit.edu	37	11	9595595	9595597	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FY-A4B4-01A-11D-A23U-08	TCGA-FY-A4B4-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8356de8c-a93f-4dc6-8db0-31fefb435baf	535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d	g.chr11:9595595_9595597delGAG	ENST00000450114.2	+	1	368_370	c.115_117delGAG	c.(115-117)del	p.E43del		NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	43	Poly-Glu.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.E39delE(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ggaggaagaagaggaggaggagg	0.739													2	4	---	---	---	---					
