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
C19orf55	148137	broad.mit.edu	37	19	36259088	36259088	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr19:36259088C>G	ENST00000544099.1	+	10	1315	c.1252C>G	c.(1252-1254)Cgt>Ggt	p.R418G	C19orf55_ENST00000396908.4_Silent_p.P416P			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	0										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGACGATCCCGTGCTGCAGG	0.632000													4	35					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228557666	228557666	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:228557666C>T	ENST00000570156.2	+	102	22936	c.22862C>T	c.(22861-22863)gCc>gTc	p.A7621V	OBSCN_ENST00000366707.4_Missense_Mutation_p.A4298V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A6664V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6664	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCCATTTGCCGGCGAGAGT	0.632000													4	124					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990733	47990733	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr20:47990733G>A	ENST00000371741.4	-	2	1530	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	455					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AATGCTCCGGGCAAAAGCATC	0.458000													4	131					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11199368	11199368	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:11199368G>A	ENST00000361445.4	-	36	5199	c.5123C>T	c.(5122-5124)gCc>gTc	p.A1708V	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1708	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GACCTTGCGGGCACTCTTCCA	0.507000													4	116					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_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													3	17					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			14	8					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98761065	98761065	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr10:98761065A>G	ENST00000266058.4	-	37	4654	c.4409T>C	c.(4408-4410)gTc>gCc	p.V1470A	SLIT1_ENST00000371070.4_Missense_Mutation_p.S1429P|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1470	CTCK.				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)		GCCCCTCTGGACCTGGTGAAA	0.677000													50	20					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34936017	34936017	+	Silent	SNP	T	T	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr19:34936017T>C	ENST00000439527.2	+	8	972	c.474T>C	c.(472-474)ctT>ctC	p.L158L	UBA2_ENST00000246548.4_Silent_p.L254L			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	254					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAGTTAAACTTTTTACCAAGG	0.328000													35	33					0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118038953	118038953	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:118038953C>T	ENST00000278947.5	-	3	536	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	99	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GAGAACTCCACGCGGTCTTGA	0.542000													34	4					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80040213	80040213	+	Silent	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:80040213G>T	ENST00000306749.2	-	35	6215	c.5997C>A	c.(5995-5997)acC>acA	p.T1999T	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1999	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCAGGTTCAGGGTGCCGCTGT	0.632000													18	57					3.52763e-06	3.78894e-06	1	1	0
LYZL2	119180	broad.mit.edu	37	10	30901770	30901770	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr10:30901770T>C	ENST00000375318.2	-	4	552	c.496A>G	c.(496-498)Aca>Gca	p.T166A		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	120					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTTGTGTCTCTTTAACA	0.418000													5	33					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923393	158923393	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr6:158923393G>T	ENST00000367097.3	+	13	4055	c.2698G>T	c.(2698-2700)Gtg>Ttg	p.V900L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	900					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGTGGAGGAGGTGTGCCGGCC	0.642000													13	129					2.32078e-09	2.58857e-09	1	1	0
CEP70	80321	broad.mit.edu	37	3	138290180	138290180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:138290180C>A	ENST00000264982.3	-	4	354	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	CEP70_ENST00000542237.1_Nonsense_Mutation_p.E10*|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000481834.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Nonsense_Mutation_p.E30*	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	30					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTATGCTTTCCCATTCTGCT	0.328000													3	27					0.115264	0.117286	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165969452	165969452	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:165969452A>T	ENST00000360093.3	-	21	4277	c.3786T>A	c.(3784-3786)taT>taA	p.Y1262*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Y1213*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Y1262*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1262						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTGAAATCCATAAGCAACCC	0.318000													114	112					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382479	41382479	+	Missense_Mutation	SNP	C	C	A	rs143006059		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:41382479C>A	ENST00000377801.3	-	2	335	c.261G>T	c.(259-261)caG>caT	p.Q87H	PLCXD3_ENST00000328457.3_Missense_Mutation_p.Q87H			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	87	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGCTCCTAGCTGGCCAGTAA	0.443000													16	56					6.72482e-11	7.96e-11	1	1	0
CRYGC	1420	broad.mit.edu	37	2	208994374	208994374	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:208994374G>C	ENST00000282141.3	-	2	80	c.43C>G	c.(43-45)Cgc>Ggc	p.R15G		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	15	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCGTAGCTGCGGCCCTGGAAG	0.522000													6	306					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051510	17051510	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:17051510G>T	ENST00000418129.2	+	2	759	c.294G>T	c.(292-294)gaG>gaT	p.E98D	PLCL2_ENST00000432376.1_Missense_Mutation_p.E98D|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.E98D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	224					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E98D(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TATATGGAGAGAATTATGAGT	0.418000													16	87					1.15088e-07	1.25945e-07	1	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40839788	40839788	+	Silent	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:40839788C>T	ENST00000264638.4	+	8	1312	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	365					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTATCAACTTCGGAGGCCCTC	0.617000													66	5					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127324	146127324	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr6:146127324C>T	ENST00000237281.4	-	2	384	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	73							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACTTTATTTCGGGCCATGGT	0.418000													106	105					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36023792	36023792	+	Translation_Start_Site	SNP	A	A	G	rs141726468		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:36023792A>G	ENST00000373243.2	+	1	384	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	NCDN_ENST00000356090.4_Start_Codon_SNP_p.M1V|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Intron	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	1					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GACTTCATCAATGTCGTGTTG	0.587000													98	5					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16340073	16340073	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:16340073G>A	ENST00000352083.6	-	3	441	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000527619.1_Missense_Mutation_p.R125C|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	122					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.R122C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGCGGCGCTCTGGGGTT	0.502000													88	6					0	0	1	0	0
FAM102B	284611	broad.mit.edu	37	1	109171385	109171385	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:109171385T>A	ENST00000370035.3	+	9	1269	c.929T>A	c.(928-930)aTa>aAa	p.I310K	FAM102B_ENST00000405454.1_Missense_Mutation_p.I310K	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	310										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GTAGAGAAAATATTACAAAGT	0.408000													21	39					0	0	1	0	0
CYB5D2	124936	broad.mit.edu	37	17	4058097	4058097	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:4058097C>T	ENST00000301391.3	+	3	1021	c.521C>T	c.(520-522)cCg>cTg	p.P174L	CYB5D2_ENST00000575251.1_Missense_Mutation_p.P62L|CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000573984.1_Missense_Mutation_p.P62L	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	174					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						ACATTCCCGCCGTGCAACGCG	0.612000													34	2					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626408	1626408	+	Missense_Mutation	SNP	G	G	A	rs34274599		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:1626408G>A	ENST00000421627.2	+	9	2211	c.2077G>A	c.(2077-2079)Gtc>Atc	p.V693I		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	772					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TTCTAACAGCGTCACGGCCGC	0.557000													24	78					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99852508	99852508	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chrX:99852508A>G	ENST00000373031.4	+	5	648	c.431A>G	c.(430-432)gAa>gGa	p.E144G	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	144	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CAGAATGAAGAAATTACCACA	0.358000													20	19					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191699	66191699	+	Silent	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:66191699C>G	ENST00000311034.2	+	7	1514	c.1338C>G	c.(1336-1338)acC>acG	p.T446T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	446					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTTCCAGACCCATTTGCCCA	0.557000													17	179					0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75312484	75312484	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr4:75312484G>C	ENST00000395748.3	+	2	507	c.295G>C	c.(295-297)Gat>Cat	p.D99H	AREG_ENST00000502307.1_Missense_Mutation_p.D99H|AREG_ENST00000264487.2_Missense_Mutation_p.D99H	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	99					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			CTATATTGTCGATGATTCAGT	0.448000													33	108					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64173847	64173847	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:64173847C>G	ENST00000261234.6	+	1	265	c.107C>G	c.(106-108)cCg>cGg	p.P36R	RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	36						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		cgccaggcgccggccgggtcc	0.716000													8	12					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411971	48411971	+	Silent	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr7:48411971A>G	ENST00000435803.1	+	33	11034	c.11010A>G	c.(11008-11010)gcA>gcG	p.A3670A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3670					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTGAGTGCATTTTTCAGCC	0.423000													89	96					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72473654	72473654	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:72473654C>T	ENST00000360141.3	+	4	901	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Nonsense_Mutation_p.Q75*|CD300A_ENST00000392625.3_Nonsense_Mutation_p.Q92*|CD300A_ENST00000310828.5_Nonsense_Mutation_p.Q92*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	205					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GAGGATGTTTCAGAAATGGAT	0.597000													21	55					0	0	1	0	0
FAM92B	339145	broad.mit.edu	37	16	85143873	85143873	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr16:85143873C>G	ENST00000539556.1	-	2	369	c.214G>C	c.(214-216)Gct>Cct	p.A72P		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	72										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGGTCCTCAGCGAAGCCCCTC	0.667000													21	17					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128593	161128593	+	Silent	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:161128593G>T	ENST00000523217.1	+	9	1388	c.1146G>T	c.(1144-1146)acG>acT	p.T382T	GABRA6_ENST00000274545.5_Silent_p.T392T	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	392					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGTGCTCACGAGAGCGCCCA	0.463000										TCGA Ovarian(5;0.080)			9	90					9.70103e-10	1.10325e-09	1	1	0
POTEA	340441	broad.mit.edu	37	8	43147752	43147752	+	RNA	SNP	A	A	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:43147752A>T	ENST00000522175.2	+	0	127							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCAAGAACAACATGGGTGCT	0.607000													8	123					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41530024	41530024	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:41530024C>A	ENST00000396942.1	-	38	5027	c.4944G>T	c.(4942-4944)gaG>gaT	p.E1648D	ANK1_ENST00000347528.4_Missense_Mutation_p.E1648D|ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1648	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGGCAGCTTCTCTTCTGACC	0.537000													9	304					0.00448238	0.00464247	1	1	0
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:7578443A>G	ENST00000420246.2	-	5	619	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)		GACTGCTTGTAGATGGCCATG	0.622000		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)			43	2					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	51					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37993284	37993284	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:37993284G>A	ENST00000343823.6	+	14	2028	c.1719_splice	c.e14+1	p.T573_splice	ASH2L_ENST00000250635.7_Intron|ASH2L_ENST00000521652.1_Intron|ASH2L_ENST00000545394.1_Splice_Site_p.T434_splice|ASH2L_ENST00000428278.2_Splice_Site_p.T479_splice	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	573	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				AGAGCTGCACGGTACGTACAT	0.423000													12	27					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110246256	110246256	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:110246256G>A	ENST00000418703.2	-	2	498	c.404C>T	c.(403-405)cCc>cTc	p.P135L	TRPV4_ENST00000541794.1_Missense_Mutation_p.P135L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P101L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P135L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P135L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P135L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P135L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P135L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	135					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGGGCTTTGGGGCTCTGCGG	0.647000													23	14					0	0	1	0	0
NME1	4830	broad.mit.edu	37	17	49237345	49237345	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:49237345C>T	ENST00000511355.1	+	3	217	c.131C>T	c.(130-132)tCc>tTc	p.S44F	NME1_ENST00000013034.3_Missense_Mutation_p.S69F|NME2_ENST00000376392.6_Missense_Mutation_p.S44F|NME2_ENST00000555572.1_Missense_Mutation_p.S69F|NME1_ENST00000480143.1_Missense_Mutation_p.S69F|NME2_ENST00000393193.2_Missense_Mutation_p.S44F|NME1_ENST00000393196.3_Missense_Mutation_p.S44F|NME1_ENST00000336097.3_Missense_Mutation_p.S69F					NME/NM23 nucleoside diphosphate kinase 1											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAATAGGCTTCCGAAGATCTT	0.463000													59	152					0	0	1	0	0
MRPL11	65003	broad.mit.edu	37	11	66204693	66204693	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:66204693C>T	ENST00000310999.7	-	4	448	c.355G>A	c.(355-357)Gag>Aag	p.E119K	MRPL11_ENST00000430466.2_Missense_Mutation_p.E93K|MRPL11_ENST00000329819.4_Missense_Mutation_p.E119K|MRPL11_ENST00000524576.1_5'UTR	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	119					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CGGGCAATCTCATACACATGC	0.567000													37	0					0	0	1	0	0
GRM3	0	broad.mit.edu	37	7	86468807	86468807	+	Silent	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr7:86468807G>A	ENST00000361669.2	+	4	3076	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	GRM3_ENST00000546348.1_Silent_p.L251L|GRM3_ENST00000536043.1_Silent_p.L531L|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	659					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACTCAGCCCTGCTGACCAAGA	0.527000													99	88					0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606828	82606828	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:82606828T>C	ENST00000518568.1	-	1	1581	c.380A>G	c.(379-381)aAa>aGa	p.K127R		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	127						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GTCTTTTTGTTTGAGCACTTT	0.353000													27	40					0	0	1	0	0
SOWAHA	134548	broad.mit.edu	37	5	132150842	132150842	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:132150842C>A	ENST00000378693.2	+	1	1810	c.1529C>A	c.(1528-1530)cCc>cAc	p.P510H		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	510																	AGCGCCTCGCCCATGGCTCCA	0.582000													10	45					9.70103e-10	1.10325e-09	1	1	0
CLTC	1213	broad.mit.edu	37	17	57721745	57721745	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:57721745G>A	ENST00000269122.3	+	2	425	c.151G>A	c.(151-153)Gta>Ata	p.V51I	CLTC_ENST00000393043.1_Missense_Mutation_p.V51I|CLTC_ENST00000579456.1_Missense_Mutation_p.V51I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	51	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGCCCAGGTGGTAATCATTGA	0.443000			T	"""ALK, TFE3"""	"""ALCL, renal """								16	94					0	0	1	0	0
AC009120.6	0	broad.mit.edu	37	16	74366447	74366447	+	RNA	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr16:74366447G>T	ENST00000565313.1	-	0	47				AC009120.6_ENST00000561921.1_RNA																							gggaggggaggggaggggGCC	0.622000													6	4					3.59834e-05	3.79461e-05	1	1	0
DAB2	1601	broad.mit.edu	37	5	39377323	39377323	+	Silent	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:39377323A>G	ENST00000320816.6	-	12	2033	c.1566T>C	c.(1564-1566)aaT>aaC	p.N522N	DAB2_ENST00000509337.1_Silent_p.N501N|DAB2_ENST00000545653.1_Silent_p.N501N|DAB2_ENST00000339788.6_Silent_p.N304N	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	522					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAGGGGACTGATTGAAGACCA	0.483000													54	64					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45583357	45583357	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:45583357A>T	ENST00000415258.1	+	20	2582	c.2441A>T	c.(2440-2442)tAc>tTc	p.Y814F	LARS2_ENST00000414984.1_Missense_Mutation_p.Y771F|LARS2_ENST00000265537.3_Missense_Mutation_p.Y814F			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	814					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGTGCCCACTACACTTGGGAT	0.597000													3	38					0	0	1	0	0
PLA2R1	0	broad.mit.edu	37	2	160918876	160918878	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:160918876_160918878delCAG	ENST00000283243.7	-	1	243_245	c.37_39delCTG	c.(37-39)del	p.L13del	PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	13					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGGCGCCCCcagcagcagcagc	0.729													3	5	---	---	---	---					
SDHAP1	0	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2																						catgcgcaacaggggactgtaa	0.366													2	4	---	---	---	---					
RASGRF2	5924	broad.mit.edu	37	5	80390692	80390693	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:80390692_80390693delGT	ENST00000265080.4	+	12	1703_1704	c.1636_1637delGT	c.(1636-1638)gfs	p.V546fs		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	546	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTCTGGGCAAGTGTTTGGGCAC	0.436													30	45	---	---	---	---					
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313													3	5	---	---	---	---					
CTD-2547L16.1	0	broad.mit.edu	37	8	17947397	17947398	+	RNA	INS	-	-	T	rs148283356		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:17947397_17947398insT	ENST00000499554.2	+	0	483				CTD-2547L16.1_ENST00000521775.1_RNA																							TAATGCTAttcttttttttttt	0.376													2	4	---	---	---	---					
SLC31A2	1318	broad.mit.edu	37	9	115913263	115913265	+	Translation_Start_Site	DEL	GCG	GCG	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr9:115913263_115913265delGCG	ENST00000259392.3	+	0	42_44				SLC31A2_ENST00000490809.1_3'UTR	NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2							integral to plasma membrane	copper ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7						GGTAGCTATCgcggcggcggcgg	0.744													2	4	---	---	---	---					
RP13-726E6.2	0	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													10	0	---	---	---	---					
LGR5	8549	broad.mit.edu	37	12	71918250	71918250	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:71918250delA	ENST00000266674.5	+	3	660	c.349delA	c.(349-351)aafs	p.K117fs	LGR5_ENST00000536515.1_Frame_Shift_Del_p.K117fs|LGR5_ENST00000540815.2_Frame_Shift_Del_p.K117fs			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	117						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTACAGTCTTAAAGTTCTGTA	0.408													9	67	---	---	---	---					
UBE2Q2P1	0	broad.mit.edu	37	15	85083188	85083188	+	RNA	DEL	T	T	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr15:85083188delT	ENST00000339094.1	-	0	1593					NR_003661.2																						aggccaagagtttgaaaccag	0.522													4	5	---	---	---	---					
STAT3	6774	broad.mit.edu	37	17	40489876	40489876	+	Splice_Site	DEL	C	C	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:40489876delC	ENST00000264657.5	-	7	863		c.e7-1		STAT3_ENST00000588969.1_Splice_Site|STAT3_ENST00000585517.1_Splice_Site|STAT3_ENST00000389272.3_Splice_Site|STAT3_ENST00000404395.3_Splice_Site	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)						cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCTTGCATGTCTGCGAAGGAA	0.507									Hyperimmunoglobulin E Recurrent Infection Syndrome				24	0	---	---	---	---					
FRMPD3	84443	broad.mit.edu	37	X	106846478	106846480	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chrX:106846478_106846480delCAG	ENST00000276185.4	+	16	5308_5310	c.5308_5310delCAG	c.(5308-5310)del	p.Q1776del				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1776	Gln-rich.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						gcaacaacaacagcagcagcagc	0.586													2	4	---	---	---	---