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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													8	59					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18234789	18234789	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:18234789T>A	ENST00000380033.4	-	2	222	c.90A>T	c.(88-90)gaA>gaT	p.E30D	BEND2_ENST00000380030.3_Missense_Mutation_p.E30D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	30										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTTCAGAAACTTCCACCATCT	0.358000													6	51					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246284	56246284	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr18:56246284A>G	ENST00000361673.3	-	4	1937	c.1724T>C	c.(1723-1725)cTa>cCa	p.L575P	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	575							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTCTGGGTTAGTGGGGGCTC	0.498000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	63					0	0	1	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70432116	70432116	+	Silent	SNP	C	C	T			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr16:70432116C>T	ENST00000393640.4	-	1	2425	c.318G>A	c.(316-318)ccG>ccA	p.P106P	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.P106P			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	106					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCTGGACGTCCGGTGGAAGAT	0.597000													3	51					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	1					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230588	38230588	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr19:38230588T>A	ENST00000339503.4	-	8	1130	c.629A>T	c.(628-630)cAt>cTt	p.H210L	ZNF573_ENST00000392138.1_Missense_Mutation_p.H181L|ZNF573_ENST00000357309.3_Missense_Mutation_p.H180L|ZNF573_ENST00000536220.1_Missense_Mutation_p.H180L|ZNF573_ENST00000590414.2_Missense_Mutation_p.H268L	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTCGCCAGTATGAACTCTCTG	0.433000													37	68					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187541588	187541588	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr2:187541588C>A	ENST00000261023.3	+	29	3251	c.2977C>A	c.(2977-2979)Cct>Act	p.P993T	ITGAV_ENST00000433736.2_Missense_Mutation_p.P947T|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.P957T	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	993					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CATGCCTGTGCCTGTGTGGGT	0.423000													25	62					6.21321e-17	6.56825e-17	1	1	0
PGK2	5232	broad.mit.edu	37	6	49754598	49754598	+	Silent	SNP	G	G	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr6:49754598G>A	ENST00000304801.3	-	1	455	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	101					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCACTTCTGCGCCTACACAGT	0.522000													14	100					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	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				13	39					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201718131	201718131	+	Silent	SNP	A	A	G			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr2:201718131A>G	ENST00000434813.2	-	13	1813	c.1479T>C	c.(1477-1479)ttT>ttC	p.F493F	CLK1_ENST00000409769.2_Silent_p.F274F|CLK1_ENST00000321356.4_Silent_p.F451F	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	451					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GAATGAGGTCAAAGAGACGCT	0.363000													14	28					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98806446	98806446	+	Silent	SNP	G	G	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr10:98806446G>A	ENST00000266058.4	-	18	2063	c.1818C>T	c.(1816-1818)agC>agT	p.S606S	SLIT1_ENST00000371070.4_Silent_p.S606S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	606					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGAACATGCCGCTCCGGATGG	0.617000													14	23					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864423	153864423	+	Missense_Mutation	SNP	A	A	C			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr4:153864423A>C	ENST00000511601.1	+	2	402	c.214A>C	c.(214-216)Atc>Ctc	p.I72L	FHDC1_ENST00000260008.3_Missense_Mutation_p.I72L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	72					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAGCCTCCCATCCCACCTCC	0.557000													8	36					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54545172	54545172	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr19:54545172G>A	ENST00000338372.2	-	7	726	c.551C>T	c.(550-552)gCc>gTc	p.A184V	VSTM1_ENST00000376626.1_Missense_Mutation_p.A153V|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.A96V	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	184						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCCCTTACCGGCAGCCTCCTG	0.478000													3	45					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453135	140453135	+	Silent	SNP	C	C	T	rs121913377		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr7:140453135C>T	ENST00000288602.6	-	15	1860	c.1800G>A	c.(1798-1800)gtG>gtA	p.V600V		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(36)|p.V600D(16)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600V(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)	ATCGAGATTTCACTGTAGCTA	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_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				13	39					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966816	41966816	+	Silent	SNP	C	C	T			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr12:41966816C>T	ENST00000298919.7	+	10	1843	c.1455C>T	c.(1453-1455)tgC>tgT	p.C485C	PDZRN4_ENST00000402685.2_Silent_p.C745C|PDZRN4_ENST00000539469.2_Silent_p.C487C			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	745	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTGAGAGCTGCAGAAGTACTC	0.483000													39	60					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7622115	7622115	+	Silent	SNP	C	C	T			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr19:7622115C>T	ENST00000221249.6	+	30	3659	c.3228C>T	c.(3226-3228)tgC>tgT	p.C1076C	PNPLA6_ENST00000600737.1_Silent_p.C1114C|PNPLA6_ENST00000545201.2_Silent_p.C1049C|PNPLA6_ENST00000450331.3_Silent_p.C1076C|PNPLA6_ENST00000414982.3_Silent_p.C1124C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1115	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCCCGCTGTGCGACCCCAAGG	0.662000													3	44					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412844	77412844	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr11:77412844T>C	ENST00000308488.6	-	6	1732	c.1430A>G	c.(1429-1431)gAc>gGc	p.D477G	RSF1_ENST00000480887.1_Missense_Mutation_p.D225G|RSF1_ENST00000360355.2_Missense_Mutation_p.D446G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	477					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GATATTTCTGTCCTTAGAGGG	0.403000													23	51					0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135865148	135865148	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr9:135865148G>A	ENST00000339463.3	+	10	1487	c.668G>A	c.(667-669)cGc>cAc	p.R223H	GFI1B_ENST00000372122.1_Missense_Mutation_p.R223H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R177H|GFI1B_ENST00000372123.1_Missense_Mutation_p.R177H|GFI1B_ENST00000450530.1_Missense_Mutation_p.R223H|GFI1B_ENST00000372124.1_Missense_Mutation_p.R177H			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	223	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.R223F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TTCGAGTGCCGCATGTGCGGC	0.677000													3	29					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52652211	52652211	+	Missense_Mutation	SNP	A	A	C			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr15:52652211A>C	ENST00000399231.3	-	25	3620	c.3377T>G	c.(3376-3378)tTt>tGt	p.F1126C	MYO5A_ENST00000399233.2_Missense_Mutation_p.F1126C|MYO5A_ENST00000553916.1_Missense_Mutation_p.F1126C|MYO5A_ENST00000356338.6_Missense_Mutation_p.F1126C|MYO5A_ENST00000358212.6_Missense_Mutation_p.F1126C	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1126					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTCAGAGCTAAAGATATATTC	0.428000													12	10					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34549844	34549844	+	Splice_Site	SNP	C	C	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr15:34549844C>A	ENST00000354181.3	-	6	1181	c.690_splice	c.e6+1	p.C230_splice	SLC12A6_ENST00000560611.1_Splice_Site_p.C230_splice|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000558589.1_Splice_Site_p.C221_splice|SLC12A6_ENST00000558667.1_Splice_Site_p.C230_splice|SLC12A6_ENST00000458406.2_Splice_Site_p.C171_splice|SLC12A6_ENST00000397702.2_Splice_Site_p.C171_splice|SLC12A6_ENST00000397707.2_Splice_Site_p.C215_splice|SLC12A6_ENST00000290209.5_Splice_Site_p.C179_splice|SLC12A6_ENST00000560164.1_Intron|RP11-1084A12.2_ENST00000559867.1_RNA			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	230	Poly-Cys.				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGTACTTACACAGCAGCAGCA	0.438000													7	17					1.26484e-09	1.26484e-09	1	1	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	42					0	0	1	0	0
ITPA	3704	broad.mit.edu	37	20	3204049	3204049	+	Missense_Mutation	SNP	T	T	G			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr20:3204049T>G	ENST00000380113.3	+	8	718	c.526T>G	c.(526-528)Tcc>Gcc	p.S176A	ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.1_Missense_Mutation_p.S159A|ITPA_ENST00000399838.3_Missense_Mutation_p.S135A	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	176					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						GAACGCTGTCTCCCATCGCTT	0.617000													7	28					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110951452	110951452	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:110951452C>T	ENST00000394780.3	+	4	593	c.581C>T	c.(580-582)cCt>cTt	p.P194L	ALG13_ENST00000251943.4_Missense_Mutation_p.P90L|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	194					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GCTTTTTTTCCTCTCCCTCTT	0.473000													6	70					0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37931394	37931394	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:37931394T>A	ENST00000357972.5	+	4	970	c.424T>A	c.(424-426)Tcc>Acc	p.S142T	SYTL5_ENST00000456733.2_Missense_Mutation_p.S142T|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.S142T			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	142					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGTCCGACAGTCCATTTTAAG	0.373000													8	71					0	0	1	0	0