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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TEX15	56154	broad.mit.edu	37	8	30695491	30695491	+	Missense_Mutation	SNP	T	C	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr8:30695491T>C	uc003xil.3	-	2	7160	c.7160A>G	c.(7159-7161)aAg>aGg	p.K2387R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2387										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388000														157			3		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27192585	27192585	+	Missense_Mutation	SNP	C	G	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:27192585C>G	uc011lno.2	+	9	1901	c.1459C>G	c.(1459-1461)Cct>Gct	p.P487A	TEK_uc003zqi.4_Missense_Mutation_p.P530A|TEK_uc011lnp.2_Missense_Mutation_p.P383A|TEK_uc003zqj.1_Missense_Mutation_p.P464A	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	530	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGAAGGGCATCCTGGACCTGT	0.517000														113			4		0	0	1	0	0
LDHA	3939	broad.mit.edu	37	11	18421059	18421059	+	Missense_Mutation	SNP	C	G	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr11:18421059C>G	uc001mok.3	+	2	480	c.208C>G	c.(208-210)Ctt>Gtt	p.L70V	LDHA_uc009yho.2_Intron|LDHA_uc001mol.3_Missense_Mutation_p.L70V|LDHA_uc010rdc.1_Missense_Mutation_p.L70V|LDHA_uc021qep.1_Missense_Mutation_p.L70V|LDHA_uc010rdd.2_Missense_Mutation_p.L99V	NM_005566	NP_005557	P00338	LDHA_HUMAN	Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 1, mRNA.	70					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	ACATGGCAGCCTTTTCCTTAG	0.378000														79			52		0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89053760	89053760	+	Missense_Mutation	SNP	A	T	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr8:89053760A>T	uc003yeb.4	-	9	2035	c.1753T>A	c.(1753-1755)Ttc>Atc	p.F585I		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	585					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTGAACTGGAACACAGTGTAA	0.443000														119			4		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183208652	183208652	+	Missense_Mutation	SNP	A	G	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:183208652A>G	uc001gqa.2	+	19	3337	c.3023A>G	c.(3022-3024)aAg>aGg	p.K1008R	LAMC2_uc001gpz.4_Missense_Mutation_p.K1008R|LAMC2_uc010poa.2_Missense_Mutation_p.K708R	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	1008	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGAGGGCAAAGAATGGGGCC	0.542000														77			43		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14850291	14850291	+	Silent	SNP	T	C	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr18:14850291T>C	uc010dlo.2	+	34	3297	c.3117T>C	c.(3115-3117)ctT>ctC	p.L1039L	ANKRD30B_uc021uhy.1_Silent_p.L1039L|ANKRD30B_uc010xal.1_Silent_p.L181L	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1124										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGAGCAACTTAGGAAAAAGT	0.294000														13			13		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196883707	196883707	+	Silent	SNP	C	T	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:196883707C>T	uc001gtp.3	+	7	1400	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.Y420Y|CFH_uc001gto.3_Silent_p.Y174Y	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	779	Sushi 7.				complement activation, alternative pathway	extracellular space		p.Y420Y(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CATTGGACTACGAATGCTACG	0.393000														107			5		0	0	1	0	0
TCAP	8557	broad.mit.edu	37	17	37822184	37822184	+	Missense_Mutation	SNP	C	T	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:37822184C>T	uc002hsh.3	+	1	340	c.326C>T	c.(325-327)aCc>aTc	p.T109I	PNMT_uc002hsi.1_5'Flank	NM_003673	NP_003664	O15273	TELT_HUMAN	Homo sapiens titin-cap (telethonin) (TCAP), mRNA.	109					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	Z disc|cytosol	structural constituent of muscle|titin Z domain binding|titin binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTGAGGACACCCCCATCCAG	0.662000														15			17		0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242179484	242179484	+	Missense_Mutation	SNP	G	C	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr2:242179484G>C	uc002waz.3	-	17	2396	c.2223C>G	c.(2221-2223)ttC>ttG	p.F741L	HDLBP_uc002wba.3_Missense_Mutation_p.F741L|HDLBP_uc021vzg.1_Missense_Mutation_p.F708L	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	741	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGCCGATGAGGAATTTGTGGT	0.557000														95			64		0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8015971	8015971	+	Splice_Site	SNP	A	T	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr11:8015971A>T	uc001mfw.3	+	5	1109	c.654_splice	c.e5-2	p.S218_splice	EIF3F_uc010rbj.2_Splice_Site_p.S69_splice	NM_003754	NP_003745	O00303	EIF3F_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit F (EIF3F), mRNA.	218						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCTTCCGCAGCACTTTAAT	0.512000														26			7		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95664979	95664979	+	Missense_Mutation	SNP	G	A	A			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr7:95664979G>A	uc003uoc.4	+	12	1607	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R	DYNC1I1_uc003uod.4_Missense_Mutation_p.G427R|DYNC1I1_uc003uob.3_Missense_Mutation_p.G407R|DYNC1I1_uc003uoe.4_Missense_Mutation_p.G424R|DYNC1I1_uc010lfl.3_Missense_Mutation_p.G433R	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	444					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGCTGTTACCGGAATGGCTTT	0.493000														181			4		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41280634	41280634	+	Missense_Mutation	SNP	A	G	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:41280634A>G	uc010hia.1	+	15	2303	c.2147A>G	c.(2146-2148)tAt>tGt	p.Y716C	CTNNB1_uc003ckq.2_Missense_Mutation_p.Y716C|CTNNB1_uc003ckp.2_Missense_Mutation_p.Y716C|CTNNB1_uc003ckr.2_Missense_Mutation_p.Y716C|CTNNB1_uc011azf.1_Missense_Mutation_p.Y709C|CTNNB1_uc011azg.1_Missense_Mutation_p.Y644C	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	716					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GATCCTAGCTATCGTTCTTTT	0.493000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					105			4		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101253689	101253689	+	Missense_Mutation	SNP	A	G	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:101253689A>G	uc003pqk.3	-	4	1198	c.869T>C	c.(868-870)aTt>aCt	p.I290T	ASCC3_uc011eai.1_Missense_Mutation_p.I192T|ASCC3_uc003pql.3_Missense_Mutation_p.I290T	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCTATCCACAATTGTAATTCT	0.328000														20			21		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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					60			42		0	0	1	0	0
TMEM160	54958	broad.mit.edu	37	19	47549926	47549926	+	Missense_Mutation	SNP	G	A	A			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:47549926G>A	uc002pfz.3	-	1	236	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C		NM_017854	NP_060324	Q9NX00	TM160_HUMAN	Homo sapiens transmembrane protein 160 (TMEM160), mRNA.	76						integral to membrane				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		AGGCCATTGCGGAACCAGGAG	0.612000														186			4		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46766859	46766859	+	Missense_Mutation	SNP	T	C	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:46766859T>C	uc011dwh.1	+	3	295	c.287T>C	c.(286-288)cTg>cCg	p.L96P	MEP1A_uc010jzh.1_Missense_Mutation_p.L68P|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_5'UTR	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	68	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGAAATGGCCTGAGAGACCCA	0.428000														126			3		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739081	40739081	+	Missense_Mutation	SNP	C	A	A			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr20:40739081C>A	uc002xkg.3	-	22	3330	c.3146G>T	c.(3145-3147)aGc>aTc	p.S1049I	PTPRT_uc010ggj.3_Missense_Mutation_p.S1068I|PTPRT_uc010ggi.3_Missense_Mutation_p.S252I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1049	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCAGGCCAGCTGGTGAAGTG	0.622000														67			3		1	1	1	1	0
HEATR5B	54497	broad.mit.edu	37	2	37227778	37227778	+	Silent	SNP	T	C	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr2:37227778T>C	uc002rpp.1	-	32	5592	c.5496A>G	c.(5494-5496)acA>acG	p.T1832T	HEATR5B_uc010ezy.1_Silent_p.T327T	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1832							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAATCAGAGCTGTCCACTGTT	0.428000														98			53		0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128099547	128099547	+	Missense_Mutation	SNP	C	T	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:128099547C>T	uc004bpp.3	+	15	2795	c.2635C>T	c.(2635-2637)Cat>Tat	p.H879Y	GAPVD1_uc011lzs.1_Missense_Mutation_p.H852Y|GAPVD1_uc004bpq.3_Missense_Mutation_p.H852Y|GAPVD1_uc010mwx.3_Missense_Mutation_p.H852Y|GAPVD1_uc004bpr.3_Missense_Mutation_p.H831Y|GAPVD1_uc004bps.3_Missense_Mutation_p.H852Y|GAPVD1_uc010mwy.1_Missense_Mutation_p.H685Y	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	852					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	p.S878S(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAGGCCATCGCATCCACCACC	0.478000														37			22		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76464923	76464923	+	Missense_Mutation	SNP	C	T	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:76464923C>T	uc010dhp.2	-	54	8679	c.8554G>A	c.(8554-8556)Gtt>Att	p.V2852I	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCGAGGGAACGTTCTTCACG	0.542000														77			3		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705452	112705452	+	Missense_Mutation	SNP	A	G	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:112705452A>G	uc004bei.2	+	6	1175	c.983A>G	c.(982-984)aAg>aGg	p.K328R	PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.K296R|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.K328R|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAGACGAAAAAGGTGCTAGGC	0.498000														113			3		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63069044	63069044	+	Missense_Mutation	SNP	G	A	A			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr15:63069044G>A	uc002alb.4	+	39	5449	c.5449G>A	c.(5449-5451)Gaa>Aaa	p.E1817K	TLN2_uc002alc.4_Missense_Mutation_p.E210K|TLN2_uc002ald.3_Missense_Mutation_p.E210K	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1817					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GACGCTGAACGAAGCTGCCAG	0.567000														84			3		0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38420767	38420767	+	Nonsense_Mutation	SNP	C	T	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:38420767C>T	uc003cic.2	+	14	1334	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	XYLB_uc011ayp.1_Nonsense_Mutation_p.R272*|XYLB_uc003cid.1_Nonsense_Mutation_p.R331*	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	409					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TGTGGAGGTTCGAGCACTAAT	0.527000														67			65		0	0	1	0	0
OAZ1	4946	broad.mit.edu	37	19	2272779	2272779	+	Frame_Shift_Del	DEL	C	-	-			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:2272779delC	uc002lvk.3	+	4	588	c.510delC	c.(508-510)gacfs	p.D170fs	OAZ1_uc002lvl.3_Non-coding_Transcript|SPPL2B_uc010dsw.1_Intron	NM_004152	NP_004143	P54368	OAZ1_HUMAN	Homo sapiens ornithine decarboxylase antizyme 1 (OAZ1), mRNA.	170					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	TGCGAGCCGACCATGTCTTCA	0.632													---	4	---	---	2	---					
