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
FLG	2312	broad.mit.edu	37	1	152285838	152285838	+	Silent	SNP	C	C	T	rs148161383	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:152285838C>T	ENST00000368799.1	-	3	1559	c.1524G>A	c.(1522-1524)gcG>gcA	p.A508A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	508	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTTGGGACGCTGAATGCC	0.597000									Ichthyosis				143	278					0	0	0.048971	0	0
CCDC159	126075	broad.mit.edu	37	19	11464486	11464486	+	Silent	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:11464486G>T	ENST00000588790.1	+	11	1155	c.708G>T	c.(706-708)ctG>ctT	p.L236L	CCDC159_ENST00000458408.1_Silent_p.L236L			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	351										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGCACGTGCTGCAGAACTCCA	0.602000													4	7					1.23904e-05	1.31246e-05	0.014758	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51914599	51914599	+	Silent	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:51914599T>C	ENST00000353836.5	-	10	1784	c.1563A>G	c.(1561-1563)acA>acG	p.T521T	SIGLEC10_ENST00000442846.3_Silent_p.T373T|SIGLEC10_ENST00000525998.1_Silent_p.T431T|SIGLEC10_ENST00000439889.2_Silent_p.T558T|SIGLEC10_ENST00000436984.2_Silent_p.T473T|SIGLEC10_ENST00000339313.5_Silent_p.T616T|SIGLEC10_ENST00000441969.3_Silent_p.T463T|SIGLEC10_ENST00000432469.2_Silent_p.T438T|SIGLEC10_ENST00000356298.5_Silent_p.T616T	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	616					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GACTGTTTGGTGTGGCTTTCT	0.507000													27	52					0	0	0.027356	0	0
RAB5C	5878	broad.mit.edu	37	17	40282496	40282496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:40282496G>A	ENST00000393860.3	-	3	341	c.25C>T	c.(25-27)Cga>Tga	p.R9*	CTD-2132N18.3_ENST00000592574.1_Nonsense_Mutation_p.R9*|RAB5C_ENST00000547517.1_Nonsense_Mutation_p.R42*|RAB5C_ENST00000346213.4_Nonsense_Mutation_p.R9*	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	9					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCATTGGGTCGTGCTGCGCCT	0.602000													11	19					0	0	0.069234	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420052	56420052	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:56420052G>A	ENST00000407595.2	+	2	1219	c.717G>A	c.(715-717)aaG>aaA	p.K239K	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	239	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTGCAGAAGCCCCGGAGCG	0.672000													16	18					0	0	0.024245	0	0
ACADVL	37	broad.mit.edu	37	17	7124963	7124963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:7124963A>G	ENST00000356839.5	+	7	763	c.584A>G	c.(583-585)aAg>aGg	p.K195R	ACADVL_ENST00000543245.2_Missense_Mutation_p.K218R|ACADVL_ENST00000350303.5_Missense_Mutation_p.K173R|ACADVL_ENST00000581562.1_Intron	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	195	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TTTGGCACAAAGGCCCAGAAA	0.577000													27	57					0	0	0.021523	0	0
SHISA5	51246	broad.mit.edu	37	3	48510918	48510918	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:48510918G>T	ENST00000296444.2	-	5	821	c.485C>A	c.(484-486)cCt>cAt	p.P162H	SHISA5_ENST00000444115.1_Missense_Mutation_p.P131H|SHISA5_ENST00000443308.2_Missense_Mutation_p.P155H|SHISA5_ENST00000442747.1_Missense_Mutation_p.P131H|SHISA5_ENST00000426002.1_Missense_Mutation_p.P59H|SHISA5_ENST00000465449.1_5'UTR	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	162	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						CACACTTGGAGGCTGAGGATA	0.607000													13	20					2.27111e-07	2.46037e-07	0.013537	1	0
CDH2	1000	broad.mit.edu	37	18	25593761	25593761	+	Silent	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr18:25593761G>C	ENST00000269141.3	-	3	708	c.285C>G	c.(283-285)ctC>ctG	p.L95L	CDH2_ENST00000399380.3_Silent_p.L64L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	95					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTCAGAAGAGAGTGGAAAGC	0.448000													24	21					0	0	0.018920	0	0
CYTH4	27128	broad.mit.edu	37	22	37695300	37695300	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:37695300C>T	ENST00000248901.6	+	6	574	c.387C>T	c.(385-387)ttC>ttT	p.F129F	CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000402997.1_Silent_p.F129F|CYTH4_ENST00000405206.3_Silent_p.F129F	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	129	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCCAGGCCTTCGTGGACTGCC	0.657000													10	22					0	0	0.013537	0	0
TIMD4	91937	broad.mit.edu	37	5	156346537	156346537	+	Silent	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr5:156346537T>A	ENST00000274532.2	-	9	1124	c.1068A>T	c.(1066-1068)ggA>ggT	p.G356G	TIMD4_ENST00000406964.1_Silent_p.G58G|TIMD4_ENST00000407087.3_Silent_p.G328G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	356						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTACTATCTCCAATGTAGT	0.423000													19	37					0	0	0.062417	0	0
COL11A1	1301	broad.mit.edu	37	1	103471421	103471421	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:103471421C>T	ENST00000358392.2	-	18	2171	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	COL11A1_ENST00000353414.4_Silent_p.P567P|COL11A1_ENST00000512756.1_Silent_p.P490P|COL11A1_ENST00000370096.3_Silent_p.P606P|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	606	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P606P(2)|p.P618P(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGCAGACCCGGAAGTCCAT	0.358000													28	54					0	0	0.064281	0	0
CAPN5	726	broad.mit.edu	37	11	76796018	76796018	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:76796018A>C	ENST00000278559.3	+	2	275	c.86A>C	c.(85-87)gAc>gCc	p.D29A	CAPN5_ENST00000456580.2_Missense_Mutation_p.D29A|CAPN5_ENST00000531028.1_Missense_Mutation_p.D29A|CAPN5_ENST00000529629.1_Missense_Mutation_p.D29A	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	29	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTCTTCGAGGACCCCCTCTTC	0.642000													5	28					0	0	0.069234	0	0
SEC24B	10427	broad.mit.edu	37	4	110442694	110442694	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:110442694G>T	ENST00000265175.5	+	14	2475	c.2420G>T	c.(2419-2421)cGt>cTt	p.R807L	SEC24B_ENST00000399100.2_Missense_Mutation_p.R772L|SEC24B_ENST00000504968.2_Missense_Mutation_p.R837L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	807					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.R807H(1)|p.R772H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACAGGTGGCCGTGTGTCTGTA	0.428000													18	21					4.96729e-08	5.50638e-08	0.049695	1	0
OSTM1	28962	broad.mit.edu	37	6	108370556	108370556	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:108370556G>A	ENST00000193322.3	-	5	935	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	284						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		GCAATTACAGGCACTGTGTCA	0.398000													20	119					0	0	0.049695	0	0
ZNF546	339327	broad.mit.edu	37	19	40520277	40520277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:40520277G>A	ENST00000347077.4	+	7	1316	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R341K	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGACCTTTAGGGTACAACGA	0.388000													18	35					0	0	0.033300	0	0
ZNF671	79891	broad.mit.edu	37	19	58232346	58232346	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:58232346G>T	ENST00000317398.6	-	4	1203	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.Q272K	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGCCACACTGATAGAGTCTT	0.473000													18	34					5.01169e-05	5.26965e-05	0.033300	1	0
PCDH9	5101	broad.mit.edu	37	13	67802486	67802486	+	Silent	SNP	A	A	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr13:67802486A>T	ENST00000544246.1	-	2	778	c.87T>A	c.(85-87)acT>acA	p.T29T	PCDH9_ENST00000377865.2_Silent_p.T29T|PCDH9_ENST00000328454.5_Silent_p.T29T|PCDH9_ENST00000456367.1_Silent_p.T29T|PCDH9_ENST00000377861.3_Silent_p.T29T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	29	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCTCTCTAATAGTGTAAATAA	0.433000													27	42					0	0	0.027356	0	0
MGAT5B	146664	broad.mit.edu	37	17	74944756	74944756	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:74944756A>T	ENST00000569840.2	+	18	2789	c.2215A>T	c.(2215-2217)Atg>Ttg	p.M739L	MGAT5B_ENST00000428789.2_Missense_Mutation_p.M748L|MGAT5B_ENST00000301618.4_Missense_Mutation_p.M737L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	739						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGTCGGAGATGAACCACCT	0.652000													4	9					0	0	0.014758	0	0
MYOM1	8736	broad.mit.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr18:3188882C>T	ENST00000356443.4	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	MYOM1_ENST00000400569.3_Missense_Mutation_p.R212K|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517000													7	155					0	0	0.047766	0	0
ERCC4	2072	broad.mit.edu	37	16	14029437	14029437	+	Missense_Mutation	SNP	C	C	T	rs139197943		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:14029437C>T	ENST00000311895.7	+	8	1657	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	550					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CCTGAAAGAACCCCTCACTAT	0.463000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				22	53					0	0	0.069288	0	0
TNRC18	84629	broad.mit.edu	37	7	5427413	5427413	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr7:5427413G>A	ENST00000399537.4	-	5	2390	c.2042C>T	c.(2041-2043)cCt>cTt	p.P681L	TNRC18_ENST00000430969.1_Missense_Mutation_p.P681L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	681							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AATGCCCACAGGCGGGTGTCG	0.701000													20	35					0	0	0.055883	0	0
C1orf27	54953	broad.mit.edu	37	1	186367550	186367550	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:186367550C>A	ENST00000367470.3	+	9	1053	c.817C>A	c.(817-819)Ccc>Acc	p.P273T	C1orf27_ENST00000432021.3_Missense_Mutation_p.P273T|C1orf27_ENST00000419367.3_Missense_Mutation_p.P264T|C1orf27_ENST00000287859.6_Missense_Mutation_p.P296T	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	296						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CAGCAGTAAACCCAAAGTTAA	0.378000													28	30					7.41945e-09	8.5563e-09	0.027356	1	0
EPHB1	2047	broad.mit.edu	37	3	134884901	134884901	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:134884901C>T	ENST00000398015.3	+	8	2047	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	EPHB1_ENST00000493838.1_Silent_p.I120I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	559						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGTGGCCATCTCTATCGTCT	0.587000													32	106					0	0	0.050027	0	0
SPEN	23013	broad.mit.edu	37	1	16254617	16254617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:16254617C>G	ENST00000375759.3	+	11	2086	c.1882C>G	c.(1882-1884)Caa>Gaa	p.Q628E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	628	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGACTATAACCAAGATCGTAC	0.403000													32	56					0	0	0.050027	0	0
LACE1	246269	broad.mit.edu	37	6	108645100	108645100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:108645100G>A	ENST00000368977.4	+	2	397	c.211G>A	c.(211-213)Gtt>Att	p.V71I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	71							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGCTTTGGCCGTTTGCCATGG	0.398000													118	74					0	0	0.048971	0	0
NTRK1	4914	broad.mit.edu	37	1	156846199	156846199	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:156846199A>C	ENST00000368196.3	+	13	1742	c.1622A>C	c.(1621-1623)aAg>aCg	p.K541T	NTRK1_ENST00000392302.2_Missense_Mutation_p.K511T|NTRK1_ENST00000358660.3_Missense_Mutation_p.K544T|NTRK1_ENST00000524377.1_Missense_Mutation_p.K547T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	547	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAGGCACTGAAGGAGGCGTCC	0.657000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			6	27					0	0	0.021553	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42292147	42292147	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr15:42292147G>A	ENST00000399518.3	-	9	1390	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L273F	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	295					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCATCGGAAAGGCAGTCGAGG	0.642000													4	6					0	0	0.014758	0	0
CSF2RB	1439	broad.mit.edu	37	22	37322077	37322077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:37322077G>A	ENST00000262825.5	+	4	466	c.249G>A	c.(247-249)tgG>tgA	p.W83*	CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.W83*|CSF2RB_ENST00000403662.3_Nonsense_Mutation_p.W83*|CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.W24*	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	83					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACATGCCCTGGTCAGCCTGCC	0.572000													11	36					0	0	0.013537	0	0
ACACA	31	broad.mit.edu	37	17	35631184	35631184	+	Missense_Mutation	SNP	C	C	T	rs73982299	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:35631184C>T	ENST00000353139.5	-	9	1389	c.908G>A	c.(907-909)cGt>cAt	p.R303H	ACACA_ENST00000394406.2_Missense_Mutation_p.R266H|ACACA_ENST00000360679.3_Missense_Mutation_p.R208H|ACACA_ENST00000335166.5_Missense_Mutation_p.R188H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	266	ATP-grasp.|Biotin carboxylation.			E -> K (in Ref. 1; AAC50139).	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAGTCCACACGAAGACCTGC	0.388000													26	46					0	0	0.024334	0	0
CLN3	1201	broad.mit.edu	37	16	28497943	28497943	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:28497943G>A	ENST00000569430.1	-	9	1308	c.489C>T	c.(487-489)ggC>ggT	p.G163G	CLN3_ENST00000357076.5_Intron|CLN3_ENST00000359984.7_Silent_p.G163G|CLN3_ENST00000535392.1_Silent_p.G85G|CLN3_ENST00000395653.4_Silent_p.G63G|CLN3_ENST00000333496.9_Silent_p.G139G|CLN3_ENST00000360019.2_Silent_p.G163G|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000357857.9_Silent_p.G109G|CLN3_ENST00000568224.1_Silent_p.G85G|CLN3_ENST00000355477.5_Silent_p.G163G|CLN3_ENST00000354630.5_Silent_p.G163G|CLN3_ENST00000567963.1_Silent_p.G163G|CLN3_ENST00000565316.1_Silent_p.G163G			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	163					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CCTCCCCAAGGCCTGATGAGA	0.607000													3	9					0	0	0.004672	0	0
FAM135B	51059	broad.mit.edu	37	8	139165127	139165127	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr8:139165127C>G	ENST00000395297.1	-	13	1761	c.1591G>C	c.(1591-1593)Gtg>Ctg	p.V531L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	531								p.V531L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACATCTGCCACTGGATATGTC	0.458000										HNSCC(54;0.14)			34	125					0	0	0.059317	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562297	145562297	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:145562297C>T	ENST00000355594.4	+	10	2072	c.1985C>T	c.(1984-1986)gCg>gTg	p.A662V		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	662										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCCAGAGGCGCAGGTCCAG	0.632000													19	41					0	0	0.055883	0	0
DESI1	27351	broad.mit.edu	37	22	42000099	42000099	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:42000099G>C	ENST00000263256.6	-	4	495	c.239C>G	c.(238-240)aCa>aGa	p.T80R	DESI1_ENST00000463886.1_5'UTR	NM_015704.2	NP_056519.1	Q6ICB0	PPDE2_HUMAN	desumoylating isopeptidase 1	80	PPPDE peptidase.																GATTTCTTCTGTGACTTCTGT	0.527000													24	79					0	0	0.076483	0	0
KCNT2	343450	broad.mit.edu	37	1	196309633	196309633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:196309633G>A	ENST00000367433.5	-	16	1722	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R491*|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.R152*|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R541*|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	541	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATAATGTATCGAGGACCTGGA	0.323000													14	34					0	0	0.038395	0	0
HIPK1	204851	broad.mit.edu	37	1	114506106	114506106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:114506106G>T	ENST00000369558.1	+	10	2433	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000426820.2_Missense_Mutation_p.G734V|HIPK1_ENST00000369559.4_Missense_Mutation_p.G734V|HIPK1_ENST00000406344.1_Missense_Mutation_p.G340V|HIPK1_ENST00000369561.4_Missense_Mutation_p.G700V|HIPK1_ENST00000340480.4_Missense_Mutation_p.G360V|HIPK1_ENST00000369553.1_Missense_Mutation_p.G340V|HIPK1_ENST00000369554.2_Intron			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCGCAGCCGGCCGGCCGGCG	0.517000													22	42					1.10513e-12	1.37421e-12	0.069288	1	0
ACAT2	39	broad.mit.edu	37	6	160199796	160199796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:160199796C>T	ENST00000367048.4	+	9	2889	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	TCP1_ENST00000321394.7_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.R406C|ACAT2_ENST00000472052.1_3'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	377						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGGCAGAAGTCGTGGTGTTGC	0.478000													33	108					0	0	0.050027	0	0
GPR125	166647	broad.mit.edu	37	4	22439976	22439976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:22439976G>A	ENST00000334304.5	-	8	1257	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	GPR125_ENST00000508133.1_Missense_Mutation_p.R104C|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.R330C	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	330	Ig-like.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTATTCCCACGTTTGGTCTGG	0.423000													29	46					0	0	0.037714	0	0
RASAL2	9462	broad.mit.edu	37	1	178423671	178423671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:178423671C>G	ENST00000448150.3	+	12	2863	c.2045C>G	c.(2044-2046)tCt>tGt	p.S682C	RASAL2_ENST00000367649.3_Missense_Mutation_p.S700C|RASAL2_ENST00000462775.1_Missense_Mutation_p.S552C	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	552					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGGAGATCTCTAATCCAGAC	0.423000													37	77					0	0	0.023175	0	0
TEX10	54881	broad.mit.edu	37	9	103091488	103091488	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:103091488C>A	ENST00000374902.4	-	7	1735	c.1559G>T	c.(1558-1560)cGg>cTg	p.R520L	TEX10_ENST00000535814.1_Missense_Mutation_p.R523L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	520						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TAACAAAGTCCGAACTGGAAG	0.343000													52	195					2.81731e-22	3.6961e-22	0.048971	1	0
ZIC1	7545	broad.mit.edu	37	3	147128258	147128258	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:147128258T>C	ENST00000282928.4	+	1	1088	c.359T>C	c.(358-360)cTc>cCc	p.L120P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	120					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAGCACAGCCTCTTTGCTGCA	0.706000													16	40					0	0	0.038395	0	0
PHF20	51230	broad.mit.edu	37	20	34389470	34389470	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:34389470G>T	ENST00000374012.3	+	2	155	c.26G>T	c.(25-27)cGa>cTa	p.R9L	PHF20_ENST00000439301.1_Missense_Mutation_p.R9L|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCTAACAGACGAGGAATCAGC	0.408000													15	37					1.5739e-10	1.90735e-10	0.028581	1	0
ANKRD36	375248	broad.mit.edu	37	2	97784187	97784187	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:97784187A>G	ENST00000420699.2	+	3	663	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	ANKRD36_ENST00000461153.2_Missense_Mutation_p.Y140C	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	140										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TACGCTGTGTATAATGAAGAT	0.398000													21	11					0	0	0.062417	0	0
AP2A1	160	broad.mit.edu	37	19	50302996	50302996	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:50302996G>A	ENST00000354293.5	+	10	1411	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	AP2A1_ENST00000359032.5_Silent_p.T415T	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	415					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACCTGGAGACGGCAGACTACG	0.642000													9	18					0	0	0.058154	0	0
ATRX	546	broad.mit.edu	37	X	76776335	76776335	+	Silent	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chrX:76776335T>C	ENST00000373344.5	-	34	7345	c.7131A>G	c.(7129-7131)caA>caG	p.Q2377Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.Q2339Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2377					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTGGCTGGCTTGTCTACTTA	0.378000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	10					0	0	0.038395	0	0
RAB21	23011	broad.mit.edu	37	12	72176380	72176380	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:72176380T>G	ENST00000261263.3	+	6	733	c.477T>G	c.(475-477)taT>taG	p.Y159*		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	159					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						CAAAACATTATCATACTTCAG	0.303000													10	22					0	0	0.016723	0	0
ZC3H14	79882	broad.mit.edu	37	14	89063145	89063145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:89063145G>A	ENST00000251038.5	+	10	1572	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	ZC3H14_ENST00000555755.1_Missense_Mutation_p.M449I|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000336693.4_Missense_Mutation_p.M415I|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Missense_Mutation_p.M415I|ZC3H14_ENST00000318308.6_Missense_Mutation_p.M151I|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.M449I|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555900.1_Missense_Mutation_p.M151I	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	449						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CTCTGCAGATGAGTCAAGGTT	0.383000													23	56					0	0	0.069288	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													4	29					0	0	0.009096	0	0
CCDC159	126075	broad.mit.edu	37	19	11464488	11464488	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:11464488A>T	ENST00000588790.1	+	11	1157	c.710A>T	c.(709-711)cAg>cTg	p.Q237L	CCDC159_ENST00000458408.1_Missense_Mutation_p.Q237L			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	352										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CACGTGCTGCAGAACTCCATA	0.597000													4	7					0	0	0.014758	0	0
CCDC50	152137	broad.mit.edu	37	3	191098615	191098615	+	Splice_Site	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:191098615A>C	ENST00000392455.3	+	8	1207		c.e8-1		CCDC50_ENST00000392456.3_Splice_Site	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TATTTTGTTTAGGAAATCGCT	0.368000													11	42					0	0	0.010729	0	0
TMEM168	64418	broad.mit.edu	37	7	112424255	112424255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr7:112424255G>T	ENST00000312814.5	-	2	1186	c.626C>A	c.(625-627)gCa>gAa	p.A209E	TMEM168_ENST00000454074.1_Missense_Mutation_p.A209E	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	209						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TAACAAAACTGCAAAAATAAC	0.333000													11	40					6.40141e-05	6.68176e-05	0.010729	1	0
OBSCN	84033	broad.mit.edu	37	1	228434319	228434319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:228434319C>A	ENST00000570156.2	+	14	4198	c.4124C>A	c.(4123-4125)gCc>gAc	p.A1375D	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1283D|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1283D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	357	Ig-like 14.				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)				TGTGAGGTGGCCCAGGCCCAG	0.612000													33	45					2.85442e-18	3.71074e-18	0.045705	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530443	84530443	+	RNA	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:84530443G>A	ENST00000527857.1	+	0	465					NR_026851.1																						GCTGTCTTGGGAGTCCCTGAA	0.532000													20	38					0	0	0.055883	0	0
KCNA2	3737	broad.mit.edu	37	1	111147063	111147063	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:111147063C>T	ENST00000485317.1	-	3	1015	c.342G>A	c.(340-342)cgG>cgA	p.R114R	KCNA2_ENST00000316361.4_Silent_p.R114R|KCNA2_ENST00000369770.3_Silent_p.R114R|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Silent_p.R114R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	114						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GCTCATAAAACCGAATTTCTT	0.478000													14	34					0	0	0.016723	0	0
SRSF6	6431	broad.mit.edu	37	20	42088474	42088474	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:42088474G>C	ENST00000244020.3	+	3	426	c.320G>C	c.(319-321)cGt>cCt	p.R107P		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	107					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCACCTGTTCGTACAGAATAC	0.393000													38	58					0	0	0.023175	0	0
TPP2	7174	broad.mit.edu	37	13	103271177	103271177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr13:103271177C>T	ENST00000376052.3	+	5	617	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	TPP2_ENST00000376065.4_Missense_Mutation_p.H201Y			P29144	TPP2_HUMAN	tripeptidyl peptidase II	201					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGGTATGGCATGATGGCGA	0.368000													29	85					0	0	0.050027	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275888	130275888	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:130275888G>A	ENST00000257359.6	-	9	2941	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	745	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCAGGTTGCCGTTGAGCAGGT	0.597000													17	70					0	0	0.033300	0	0
RSBN1	54665	broad.mit.edu	37	1	114310877	114310877	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:114310877A>G	ENST00000261441.5	-	5	1856	c.1793T>C	c.(1792-1794)gTt>gCt	p.V598A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	598						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACTCCAACAGCAGCCGT	0.438000													16	35					0	0	0.038395	0	0
FARSB	10056	broad.mit.edu	37	2	223497951	223497951	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:223497951C>A	ENST00000281828.6	-	7	945	c.682G>T	c.(682-684)Ggt>Tgt	p.G228C	FARSB_ENST00000536361.1_Missense_Mutation_p.G129C	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	228					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	AGGACGACACCATTGCTATCA	0.333000													32	83					9.62906e-15	1.21854e-14	0.025465	1	0
SHROOM3	57619	broad.mit.edu	37	4	77676119	77676119	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:77676119C>T	ENST00000296043.6	+	7	5436	c.4483C>T	c.(4483-4485)Cgg>Tgg	p.R1495W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1495					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTCTGTCCTGCGGGACTCCCC	0.577000													20	55					0	0	0.062417	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117351685	117351685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr7:117351685C>T	ENST00000160373.3	-	23	4989	c.4898G>A	c.(4897-4899)aGc>aAc	p.S1633N	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1633										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGTATTACTGCTGCTGCTGCT	0.383000													4	89					0	0	0.009096	0	0
ATP11B	23200	broad.mit.edu	37	3	182597414	182597414	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:182597414A>G	ENST00000323116.5	+	20	2643	c.2383A>G	c.(2383-2385)Atg>Gtg	p.M795V		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	795					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATGCTGTCGTATGGCTCCACT	0.353000													22	67					0	0	0.018920	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686279	108686279	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:108686279C>T	ENST00000312143.7	-	3	824	c.461G>A	c.(460-462)cGc>cAc	p.R154H	CMKLR1_ENST00000552995.1_Missense_Mutation_p.R152H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R154H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R154H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R152H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	154					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTAAGCCAGGCGAACGCTGCG	0.562000													10	38					0	0	0.058154	0	0
CTBP2	1488	broad.mit.edu	37	10	126682531	126682531	+	Silent	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr10:126682531C>A	ENST00000309035.6	-	6	2554	c.2424G>T	c.(2422-2424)gtG>gtT	p.V808V	CTBP2_ENST00000411419.2_Silent_p.V268V|CTBP2_ENST00000337195.5_Silent_p.V268V|CTBP2_ENST00000334808.6_Silent_p.V336V|CTBP2_ENST00000494626.2_Silent_p.V268V|CTBP2_ENST00000531469.1_Silent_p.V268V	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	268					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGCTGCGTTCACAAGGAATG	0.557000													40	66					3.4345e-17	4.42462e-17	0.042209	1	0
CENPBD1	92806	broad.mit.edu	37	16	90038291	90038291	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:90038291T>G	ENST00000314994.3	-	1	651	c.40A>C	c.(40-42)Agt>Cgt	p.S14R	CENPBD1_ENST00000567035.1_Intron|RP11-566K11.5_ENST00000565150.1_RNA	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	14	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						CTTTTGGCACTAGGGATGACA	0.502000													9	23					0	0	0.058154	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244657	1244657	+	RNA	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:1244657C>T	ENST00000581398.1	+	0	611				CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000514984.1_RNA	NR_033339.1																						GTCCAGCAAACATCACATAAG	0.552000													17	32					0	0	0.049695	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570579	20570579	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:20570579A>G	ENST00000329697.6	-	3	536	c.368T>C	c.(367-369)aTc>aCc	p.I123T	ACSM2B_ENST00000565232.1_Missense_Mutation_p.I123T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I44T|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I123T|ACSM2B_ENST00000567001.1_Missense_Mutation_p.I123T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	123					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCAGCCCAGGATCACCAGCCA	0.577000													8	17					0	0	0.058154	0	0
CTNNA3	29119	broad.mit.edu	37	10	68139106	68139106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr10:68139106G>T	ENST00000433211.1	-	12	1710	c.1536C>A	c.(1534-1536)agC>agA	p.S512R	CTNNA3_ENST00000373744.4_Missense_Mutation_p.S512R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	512					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAAGATATGGCTTTCTGTAA	0.378000													18	40					2.35188e-11	2.87452e-11	0.038395	1	0
CNKSR2	22866	broad.mit.edu	37	X	21534662	21534662	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chrX:21534662C>G	ENST00000425654.2	+	9	1350	c.870C>G	c.(868-870)atC>atG	p.I290M	CNKSR2_ENST00000379510.3_Missense_Mutation_p.I290M|CNKSR2_ENST00000279451.4_Missense_Mutation_p.I290M|CNKSR2_ENST00000543067.1_Intron	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	290	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTGGTGTTATCTTAACTTTGA	0.433000													29	15					0	0	0.034045	0	0
ACSS3	79611	broad.mit.edu	37	12	81545669	81545669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:81545669C>A	ENST00000548058.1	+	6	1878	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ACSS3_ENST00000548324.1_Nonsense_Mutation_p.S5*|ACSS3_ENST00000261206.3_Nonsense_Mutation_p.S322*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	323						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTACACTGGTCAATGTCTTCC	0.353000													19	45					5.26018e-13	6.59829e-13	0.062417	1	0
CENPE	1062	broad.mit.edu	37	4	104070291	104070291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:104070291C>G	ENST00000265148.3	-	27	3760	c.3671G>C	c.(3670-3672)aGa>aCa	p.R1224T	CENPE_ENST00000380026.3_Missense_Mutation_p.R1199T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1224					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCAATTTCTCTTATATATCC	0.338000													21	39					0	0	0.069288	0	0
KIF14	9928	broad.mit.edu	37	1	200555247	200555247	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:200555247T>C	ENST00000367350.4	-	19	3661	c.3223A>G	c.(3223-3225)Agg>Ggg	p.R1075G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1075	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTTTTATCCCTATTATTCCGA	0.303000													3	42					0	0	0.004672	0	0
ARMC9	80210	broad.mit.edu	37	2	232209757	232209757	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:232209757T>A	ENST00000349938.4	+	21	2143	c.1949T>A	c.(1948-1950)cTg>cAg	p.L650Q	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	650							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GATGAGCCCCTGCAAAGGCCC	0.547000													33	52					0	0	0.054565	0	0
STRA6	64220	broad.mit.edu	37	15	74490148	74490148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr15:74490148G>A	ENST00000323940.5	-	3	370	c.125C>T	c.(124-126)tCc>tTc	p.S42F	STRA6_ENST00000535552.1_Missense_Mutation_p.S79F|STRA6_ENST00000449139.2_Missense_Mutation_p.S42F|STRA6_ENST00000432245.2_Missense_Mutation_p.S42F|STRA6_ENST00000423167.2_Missense_Mutation_p.S42F|STRA6_ENST00000416286.3_Missense_Mutation_p.S42F|STRA6_ENST00000395105.4_Missense_Mutation_p.S42F|STRA6_ENST00000574278.1_Missense_Mutation_p.S57F|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Missense_Mutation_p.S81F	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	42					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGTGTGGCAGGAGGGCACTTC	0.622000													3	25					0	0	0.004672	0	0
CPT1A	1374	broad.mit.edu	37	11	68552321	68552321	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:68552321G>A	ENST00000265641.5	-	10	1279	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	CPT1A_ENST00000539743.1_Silent_p.P375P|CPT1A_ENST00000540367.1_Silent_p.P375P|CPT1A_ENST00000376618.2_Silent_p.P375P	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	375					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TGGCCTCCCCGGGCTGAGGCT	0.642000													28	30					0	0	0.050027	0	0
VSX1	30813	broad.mit.edu	37	20	25057052	25057052	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:25057052C>A	ENST00000376709.4	-	5	1206	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	315					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TCAGGGCTCACTTTATCTGAG	0.547000													37	53					5.73237e-09	6.66446e-09	0.025465	1	0
C1orf198	84886	broad.mit.edu	37	1	231004121	231004121	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:231004121G>T	ENST00000366663.5	-	1	278	c.138C>A	c.(136-138)gaC>gaA	p.D46E	C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Missense_Mutation_p.D8E	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	46										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCTTCTCCTTGTCCTGCATGA	0.682000													15	16					1.15088e-07	1.2563e-07	0.028581	1	0
MARK2	2011	broad.mit.edu	37	11	63666242	63666242	+	Silent	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:63666242A>G	ENST00000402010.2	+	6	990	c.411A>G	c.(409-411)gtA>gtG	p.V137V	MARK2_ENST00000413835.2_Silent_p.V137V|MARK2_ENST00000425897.2_Silent_p.V104V|MARK2_ENST00000509502.2_Silent_p.V104V|MARK2_ENST00000361128.5_Silent_p.V137V|MARK2_ENST00000513765.2_Silent_p.V104V|MARK2_ENST00000315032.8_Silent_p.V137V|MARK2_ENST00000508192.1_Silent_p.V137V|MARK2_ENST00000502399.3_Silent_p.V137V|MARK2_ENST00000408948.3_Silent_p.V104V|MARK2_ENST00000377810.3_Silent_p.V104V|MARK2_ENST00000350490.7_Silent_p.V137V|MARK2_ENST00000377809.4_Silent_p.V137V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	137	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGGAGAGGTATTTGATTACC	0.552000													17	52					0	0	0.033300	0	0
SEC23A	10484	broad.mit.edu	37	14	39509955	39509955	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:39509955G>A	ENST00000537403.1	-	14	2719	c.1517C>T	c.(1516-1518)aCt>aTt	p.T506I	SEC23A_ENST00000536508.1_Missense_Mutation_p.T606I|SEC23A_ENST00000307712.6_Missense_Mutation_p.T708I|SEC23A_ENST00000545328.2_Missense_Mutation_p.T679I			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	708					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCATGTTCAGTGTCAATGTA	0.428000													83	84					0	0	0.048971	0	0
ISM1	140862	broad.mit.edu	37	20	13279750	13279750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:13279750C>T	ENST00000262487.3	+	6	1045	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	347	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CAAGGACTTCCGCTGGAAGGA	0.627000													4	26					0	0	0.009096	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451945	48451945	+	Silent	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:48451945C>A	ENST00000358536.4	-	30	5708	c.5439G>T	c.(5437-5439)ggG>ggT	p.G1813G	PLXNB1_ENST00000358459.4_Silent_p.G1630G|PLXNB1_ENST00000296440.6_Silent_p.G1813G|PLXNB1_ENST00000456774.1_Silent_p.G1630G|PLXNB1_ENST00000448774.2_Silent_p.G424G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1813					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAATGAGGTGCCCGGCCACCC	0.597000													18	21					4.96729e-08	5.50638e-08	0.049695	1	0
TPTE2	93492	broad.mit.edu	37	13	20025355	20025355	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr13:20025355C>T	ENST00000400230.2	-	11	796	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	TPTE2_ENST00000382977.4_Missense_Mutation_p.R251Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R211Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R140Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R211Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R174Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R140Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R174Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	251	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATCTAGAAACCGCACAACTTC	0.338000													20	41					0	0	0.069288	0	0
ZNF510	22869	broad.mit.edu	37	9	99522150	99522150	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:99522150G>C	ENST00000375231.1	-	6	1612	c.962C>G	c.(961-963)tCa>tGa	p.S321*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.S321*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTCCACAGTTGACTTCTCAAA	0.358000													24	78					0	0	0.024334	0	0
CACNA1B	774	broad.mit.edu	37	9	140811748	140811748	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:140811748C>T	ENST00000371372.1	+	6	976	c.831C>T	c.(829-831)tgC>tgT	p.C277C	CACNA1B_ENST00000371363.1_Silent_p.C277C|CACNA1B_ENST00000371357.1_Silent_p.C277C|CACNA1B_ENST00000371355.4_Silent_p.C277C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.C277C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	277					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCGGCTGTGCGAGGGCGACA	0.572000													43	54					0	0	0.039052	0	0
INSL4	3641	broad.mit.edu	37	9	5233853	5233853	+	Silent	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr9:5233853A>G	ENST00000239316.4	+	2	501	c.396A>G	c.(394-396)ggA>ggG	p.G132G		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	132					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GTGACGATGGAACTTCAGTTA	0.363000													38	99					0	0	0.074837	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55239225	55239225	+	Silent	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:55239225T>C	ENST00000291860.1	+	4	522	c.504T>C	c.(502-504)gtT>gtC	p.V168V	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	168	Ig-like C2-type 2.		V -> I (in allele KIR3DL3*00101, allele KIR3DL3*00102, allele KIR3DL3*00103, allele KIR3DL3*0030101, allele KIR3DL3*00901, allele KIR3DL3*00902, allele KIR3DL3*010 and allele KIR3DL3*028; dbSNP:rs270790).			integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGCGCCTCGTTGGACAGCTCC	0.557000													4	71					0	0	0.009096	0	0
FASLG	356	broad.mit.edu	37	1	172634881	172634881	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:172634881G>T	ENST00000367721.2	+	4	755	c.571G>T	c.(571-573)Gta>Tta	p.V191L	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	191					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GCTGTACTTTGTATATTCCAA	0.468000													25	61					1.42536e-11	1.75712e-11	0.024334	1	0
SCN9A	6335	broad.mit.edu	37	2	167055277	167055277	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:167055277A>G	ENST00000303354.6	-	27	6215	c.5875T>C	c.(5875-5877)Tat>Cat	p.Y1959H	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.Y1958H|SCN9A_ENST00000409672.1_Missense_Mutation_p.Y1947H|SCN9A_ENST00000375387.4_Missense_Mutation_p.Y1959H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1958						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACACTATCATATGAAGGTGGA	0.358000													3	17					0	0	0.014758	0	0
CREBBP	1387	broad.mit.edu	37	16	3788646	3788646	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:3788646A>C	ENST00000262367.5	-	26	5117	c.4308T>G	c.(4306-4308)agT>agG	p.S1436R	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1398R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1436	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAAATGAATACTATCCAGAT	0.418000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	18					0	0	0.014758	0	0
CREBBP	1387	broad.mit.edu	37	16	3788645	3788645	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:3788645T>A	ENST00000262367.5	-	26	5118	c.4309A>T	c.(4309-4311)Att>Ttt	p.I1437F	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1399F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1437	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGAAATGAATACTATCCAGA	0.418000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						3	19					0	0	0.009096	0	0
OSBP2	23762	broad.mit.edu	37	22	31286872	31286872	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:31286872G>A	ENST00000332585.6	+	8	1885	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	OSBP2_ENST00000407373.1_Missense_Mutation_p.R421H|OSBP2_ENST00000401475.1_Missense_Mutation_p.R227H|OSBP2_ENST00000446658.2_Missense_Mutation_p.R593H|OSBP2_ENST00000535268.1_Missense_Mutation_p.R138H|OSBP2_ENST00000382310.3_Missense_Mutation_p.R545H|OSBP2_ENST00000437268.2_Missense_Mutation_p.R336H|OSBP2_ENST00000403222.3_Missense_Mutation_p.R428H	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	594					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACAGTGCACCGCATCGCCAAG	0.642000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	36					0	0	0.030593	0	0
JAK3	3718	broad.mit.edu	37	19	17941381	17941381	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:17941381G>A	ENST00000458235.1	-	22	3126	c.3027C>T	c.(3025-3027)gaC>gaT	p.D1009D	JAK3_ENST00000527670.1_Silent_p.D1009D|JAK3_ENST00000534444.1_Silent_p.D1009D	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1009	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGCTCCAGACGTCTGACTGGC	0.597000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								18	24					0	0	0.043863	0	0
MN1	4330	broad.mit.edu	37	22	28193502	28193502	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:28193502C>G	ENST00000302326.4	-	1	3984	c.3030G>C	c.(3028-3030)tgG>tgC	p.W1010C		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1010							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCCCCTTCCCCCAGGATGGCG	0.692000			T	ETV6	"""AML, meningioma"""								21	42					0	0	0.069288	0	0
GRIA4	2893	broad.mit.edu	37	11	105804580	105804580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:105804580G>T	ENST00000393127.2	+	14	2625	c.2179G>T	c.(2179-2181)Gag>Tag	p.E727*	GRIA4_ENST00000282499.5_Nonsense_Mutation_p.E727*|GRIA4_ENST00000530497.1_Nonsense_Mutation_p.E727*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.E727*	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	727					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTTTCTCCTGGAGTCCACTAT	0.488000													20	31					4.63292e-17	5.91525e-17	0.049695	1	0
HELT	391723	broad.mit.edu	37	4	185940787	185940787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr4:185940787C>T	ENST00000338875.4	+	3	274	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	HELT_ENST00000505610.1_Intron|HELT_ENST00000515777.1_Intron	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	92	Helix-loop-helix motif.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGGCGAACCTCAGGAGGCTCT	0.746000													3	13					0	0	0.009096	0	0
PA2G4	5036	broad.mit.edu	37	12	56506656	56506656	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:56506656A>G	ENST00000303305.6	+	13	1588	c.1169A>G	c.(1168-1170)aAt>aGt	p.N390S	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	390	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TTAGAAGAAAATGAAGCTGGG	0.517000													27	65					0	0	0.059317	0	0
KCNA10	3744	broad.mit.edu	37	1	111060811	111060811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:111060811C>T	ENST00000369771.2	-	1	986	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	200			R -> H (in a colorectal cancer sample; somatic mutation).			voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R200H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCAGAACTGACGGTGGATGTC	0.547000													27	45					0	0	0.021523	0	0
DAZAP2	9802	broad.mit.edu	37	12	51636287	51636287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:51636287C>T	ENST00000549555.1	+	4	559	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	DAZAP2_ENST00000449723.3_3'UTR|DAZAP2_ENST00000412716.3_3'UTR|DAZAP2_ENST00000439799.2_3'UTR|DAZAP2_ENST00000551313.1_3'UTR|DAZAP2_ENST00000549732.2_3'UTR|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000604900.1_Intron	NM_001136266.1	NP_001129738.1	Q15038	DAZP2_HUMAN	DAZ associated protein 2	0							WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CACATACCTTCAGCACTTCTC	0.483000													19	46					0	0	0.038395	0	0
OR5D14	219436	broad.mit.edu	37	11	55563815	55563815	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:55563815T>A	ENST00000335605.1	+	1	784	c.784T>A	c.(784-786)Tgt>Agt	p.C262S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTCCTTTACTGTGTACCCAA	0.488000													21	30					0	0	0.055883	0	0
CSNK2A1	1457	broad.mit.edu	37	20	468128	468128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:468128G>A	ENST00000217244.3	-	12	1291	c.916C>T	c.(916-918)Cga>Tga	p.R306*	CSNK2A1_ENST00000400217.1_Nonsense_Mutation_p.R170*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R306*|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R306*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	306	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGGTCATATCGCAGCAGTTTG	0.527000													39	68					0	0	0.027894	0	0
RGPD4	285190	broad.mit.edu	37	2	108475958	108475958	+	Missense_Mutation	SNP	A	A	G	rs142985549	by1000genomes	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr2:108475958A>G	ENST00000408999.3	+	11	1659	c.1582A>G	c.(1582-1584)Aga>Gga	p.R528G	RGPD4_ENST00000354986.4_Missense_Mutation_p.R528G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	528					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTGTACAGAAAGACAAAAATC	0.393000													8	230					0	0	0.047766	0	0
NR4A1	3164	broad.mit.edu	37	12	52451148	52451148	+	Silent	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:52451148C>A	ENST00000545748.1	+	7	2531	c.1536C>A	c.(1534-1536)ggC>ggA	p.G512G	NR4A1_ENST00000243050.1_Silent_p.G458G|NR4A1_ENST00000394824.2_Silent_p.G458G|NR4A1_ENST00000394825.1_Silent_p.G458G|NR4A1_ENST00000550082.1_Silent_p.G471G|NR4A1_ENST00000360284.3_Silent_p.G471G			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	458					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTAAGCCAGGCGAGGGCAAGC	0.607000													17	33					3.41278e-10	4.0669e-10	0.033300	1	0
OSBPL5	114879	broad.mit.edu	37	11	3121473	3121473	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr11:3121473C>T	ENST00000263650.7	-	14	1695	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	OSBPL5_ENST00000542243.1_Silent_p.S143S|OSBPL5_ENST00000525498.1_Silent_p.S423S|OSBPL5_ENST00000348039.5_Silent_p.S444S|OSBPL5_ENST00000389989.3_Silent_p.S444S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	512					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCAGCAGCGCCGACAGCGAGT	0.607000													11	13					0	0	0.010729	0	0
PTPRT	11122	broad.mit.edu	37	20	40730876	40730876	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr20:40730876C>A	ENST00000373198.3	-	27	3903	c.3668G>T	c.(3667-3669)cGg>cTg	p.R1223L	PTPRT_ENST00000373190.1_Missense_Mutation_p.R1200L|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1204L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1191L|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1210L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1211L|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1201L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1201	Tyrosine-protein phosphatase 2.				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)				ATCATGGTTCCGGGGCAGGAG	0.557000													20	29					2.4624e-09	2.88625e-09	0.049695	1	0
RNF123	63891	broad.mit.edu	37	3	49742142	49742142	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr3:49742142A>G	ENST00000327697.6	+	22	2056	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	RNF123_ENST00000432042.1_Missense_Mutation_p.M492V	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	638						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTCAACCGCCATGGATGACCT	0.587000													4	6					0	0	0.014758	0	0
TTC7B	145567	broad.mit.edu	37	14	91007854	91007854	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:91007854G>T	ENST00000357056.2	-	21	2562	c.2441C>A	c.(2440-2442)gCc>gAc	p.A814D	TTC7B_ENST00000328459.6_Missense_Mutation_p.A797D|TTC7B_ENST00000554654.1_5'UTR			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	797							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GACCTCGTGGGCTGTCGAGTT	0.647000													12	42					1.5842e-08	1.81233e-08	0.016723	1	0
KMT2D	8085	broad.mit.edu	37	12	49435983	49435983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:49435983G>A	ENST00000301067.7	-	28	5997	c.5998C>T	c.(5998-6000)Cag>Tag	p.Q2000*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGACTCCGCTGGTTATAGGAG	0.607000													7	7					0	0	0.047766	0	0
DGCR14	8220	broad.mit.edu	37	22	19130247	19130247	+	Missense_Mutation	SNP	G	G	A	rs111488352	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr22:19130247G>A	ENST00000252137.6	-	2	339	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	99					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582000													5	112					0	0	0.014758	0	0
FMNL3	91010	broad.mit.edu	37	12	50044492	50044492	+	Missense_Mutation	SNP	C	C	A	rs149056505	by1000genomes	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr12:50044492C>A	ENST00000335154.5	-	17	2200	c.1967G>T	c.(1966-1968)cGc>cTc	p.R656L	FMNL3_ENST00000352151.5_Missense_Mutation_p.R605L|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656L|FMNL3_ENST00000550488.1_Missense_Mutation_p.R656L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	656	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CTCAGCCGAGCGGCCAGCCTT	0.582000													23	32					4.72057e-08	5.31529e-08	0.021523	1	0
SOS2	6655	broad.mit.edu	37	14	50597308	50597308	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:50597308G>T	ENST00000216373.5	-	20	3522	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	SOS2_ENST00000543680.1_Missense_Mutation_p.P1050Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1083					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGGAGAGGTTGGTGCTGACAC	0.423000													65	83					1.32218e-49	1.76702e-49	0.048971	1	0
ZNF333	84449	broad.mit.edu	37	19	14805946	14805946	+	Splice_Site	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr19:14805946G>A	ENST00000292530.6	+	3	218		c.e3+1		ZNF333_ENST00000536363.1_Splice_Site|ZNF333_ENST00000601629.1_Splice_Site|ZNF333_ENST00000540689.2_Splice_Site|ZNF333_ENST00000601134.1_Splice_Site	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GCCTCCAGGGGTAAGGCTGGC	0.582000													13	26					0	0	0.020292	0	0
FLG	2312	broad.mit.edu	37	1	152285838	152285838	+	Silent	SNP	C	C	T	rs148161383	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:152285838C>T	ENST00000368799.1	-	3	1559	c.1524G>A	c.(1522-1524)gcG>gcA	p.A508A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	508	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTTGGGACGCTGAATGCC	0.597000									Ichthyosis				143	278					0	0	0.048971	0	0
CCDC159	126075	broad.mit.edu	37	19	11464486	11464486	+	Silent	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:11464486G>T	ENST00000588790.1	+	11	1155	c.708G>T	c.(706-708)ctG>ctT	p.L236L	CCDC159_ENST00000458408.1_Silent_p.L236L			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	351										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGCACGTGCTGCAGAACTCCA	0.602000													4	7					1.23904e-05	1.29804e-05	0.014758	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51914599	51914599	+	Silent	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:51914599T>C	ENST00000353836.5	-	10	1784	c.1563A>G	c.(1561-1563)acA>acG	p.T521T	SIGLEC10_ENST00000525998.1_Silent_p.T431T|SIGLEC10_ENST00000432469.2_Silent_p.T438T|SIGLEC10_ENST00000441969.3_Silent_p.T463T|SIGLEC10_ENST00000356298.5_Silent_p.T616T|SIGLEC10_ENST00000439889.2_Silent_p.T558T|SIGLEC10_ENST00000442846.3_Silent_p.T373T|SIGLEC10_ENST00000436984.2_Silent_p.T473T|SIGLEC10_ENST00000339313.5_Silent_p.T616T	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	616					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GACTGTTTGGTGTGGCTTTCT	0.507000													27	52					0	0	0.027356	0	0
RAB5C	5878	broad.mit.edu	37	17	40282496	40282496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr17:40282496G>A	ENST00000393860.3	-	3	341	c.25C>T	c.(25-27)Cga>Tga	p.R9*	CTD-2132N18.3_ENST00000592574.1_Nonsense_Mutation_p.R9*|RAB5C_ENST00000547517.1_Nonsense_Mutation_p.R42*|RAB5C_ENST00000346213.4_Nonsense_Mutation_p.R9*	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	9					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCATTGGGTCGTGCTGCGCCT	0.602000													11	19					0	0	0.069234	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420052	56420052	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr2:56420052G>A	ENST00000407595.2	+	2	1219	c.717G>A	c.(715-717)aaG>aaA	p.K239K	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	239	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTGCAGAAGCCCCGGAGCG	0.672000													16	18					0	0	0.024245	0	0
ACADVL	37	broad.mit.edu	37	17	7124963	7124963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr17:7124963A>G	ENST00000356839.5	+	7	763	c.584A>G	c.(583-585)aAg>aGg	p.K195R	ACADVL_ENST00000350303.5_Missense_Mutation_p.K173R|ACADVL_ENST00000543245.2_Missense_Mutation_p.K218R|ACADVL_ENST00000581562.1_Intron	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	195	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TTTGGCACAAAGGCCCAGAAA	0.577000													27	57					0	0	0.021523	0	0
SHISA5	51246	broad.mit.edu	37	3	48510918	48510918	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr3:48510918G>T	ENST00000296444.2	-	5	821	c.485C>A	c.(484-486)cCt>cAt	p.P162H	SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000444115.1_Missense_Mutation_p.P131H|SHISA5_ENST00000443308.2_Missense_Mutation_p.P155H|SHISA5_ENST00000442747.1_Missense_Mutation_p.P131H|SHISA5_ENST00000426002.1_Missense_Mutation_p.P59H	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	162	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						CACACTTGGAGGCTGAGGATA	0.607000													13	20					2.27111e-07	2.41763e-07	0.013537	1	0
CDH2	1000	broad.mit.edu	37	18	25593761	25593761	+	Silent	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr18:25593761G>C	ENST00000269141.3	-	3	708	c.285C>G	c.(283-285)ctC>ctG	p.L95L	CDH2_ENST00000399380.3_Silent_p.L64L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	95					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTCAGAAGAGAGTGGAAAGC	0.448000													24	21					0	0	0.018920	0	0
CYTH4	27128	broad.mit.edu	37	22	37695300	37695300	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr22:37695300C>T	ENST00000248901.6	+	6	574	c.387C>T	c.(385-387)ttC>ttT	p.F129F	CYTH4_ENST00000402997.1_Silent_p.F129F|CYTH4_ENST00000405206.3_Silent_p.F129F|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	129	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCCAGGCCTTCGTGGACTGCC	0.657000													10	22					0	0	0.013537	0	0
TIMD4	91937	broad.mit.edu	37	5	156346537	156346537	+	Silent	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr5:156346537T>A	ENST00000274532.2	-	9	1124	c.1068A>T	c.(1066-1068)ggA>ggT	p.G356G	TIMD4_ENST00000406964.1_Silent_p.G58G|TIMD4_ENST00000407087.3_Silent_p.G328G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	356						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTACTATCTCCAATGTAGT	0.423000													19	37					0	0	0.062417	0	0
COL11A1	1301	broad.mit.edu	37	1	103471421	103471421	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:103471421C>T	ENST00000358392.2	-	18	2171	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Silent_p.P490P|COL11A1_ENST00000370096.3_Silent_p.P606P|COL11A1_ENST00000353414.4_Silent_p.P567P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	606	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P606P(2)|p.P618P(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGCAGACCCGGAAGTCCAT	0.358000													28	54					0	0	0.064281	0	0
CAPN5	726	broad.mit.edu	37	11	76796018	76796018	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr11:76796018A>C	ENST00000278559.3	+	2	275	c.86A>C	c.(85-87)gAc>gCc	p.D29A	CAPN5_ENST00000529629.1_Missense_Mutation_p.D29A|CAPN5_ENST00000531028.1_Missense_Mutation_p.D29A|CAPN5_ENST00000456580.2_Missense_Mutation_p.D29A	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	29	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTCTTCGAGGACCCCCTCTTC	0.642000													5	28					0	0	0.069234	0	0
SEC24B	10427	broad.mit.edu	37	4	110442694	110442694	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr4:110442694G>T	ENST00000265175.5	+	14	2475	c.2420G>T	c.(2419-2421)cGt>cTt	p.R807L	SEC24B_ENST00000399100.2_Missense_Mutation_p.R772L|SEC24B_ENST00000504968.2_Missense_Mutation_p.R837L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	807					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.R807H(1)|p.R772H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACAGGTGGCCGTGTGTCTGTA	0.428000													18	21					4.96729e-08	5.41886e-08	0.049695	1	0
OSTM1	28962	broad.mit.edu	37	6	108370556	108370556	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr6:108370556G>A	ENST00000193322.3	-	5	935	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	284						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		GCAATTACAGGCACTGTGTCA	0.398000													20	119					0	0	0.049695	0	0
ZNF546	339327	broad.mit.edu	37	19	40520277	40520277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:40520277G>A	ENST00000347077.4	+	7	1316	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K	ZNF546_ENST00000600094.1_Missense_Mutation_p.R341K|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGACCTTTAGGGTACAACGA	0.388000													18	35					0	0	0.033300	0	0
ZNF671	79891	broad.mit.edu	37	19	58232346	58232346	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:58232346G>T	ENST00000317398.6	-	4	1203	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.Q272K	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGCCACACTGATAGAGTCTT	0.473000													18	34					5.01169e-05	5.20901e-05	0.033300	1	0
PCDH9	5101	broad.mit.edu	37	13	67802486	67802486	+	Silent	SNP	A	A	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr13:67802486A>T	ENST00000544246.1	-	2	778	c.87T>A	c.(85-87)acT>acA	p.T29T	PCDH9_ENST00000328454.5_Silent_p.T29T|PCDH9_ENST00000377861.3_Silent_p.T29T|PCDH9_ENST00000456367.1_Silent_p.T29T|PCDH9_ENST00000377865.2_Silent_p.T29T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	29	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCTCTCTAATAGTGTAAATAA	0.433000													27	42					0	0	0.027356	0	0
MGAT5B	146664	broad.mit.edu	37	17	74944756	74944756	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr17:74944756A>T	ENST00000569840.2	+	18	2789	c.2215A>T	c.(2215-2217)Atg>Ttg	p.M739L	MGAT5B_ENST00000301618.4_Missense_Mutation_p.M737L|MGAT5B_ENST00000428789.2_Missense_Mutation_p.M748L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	739						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGTCGGAGATGAACCACCT	0.652000													4	9					0	0	0.014758	0	0
ERCC4	2072	broad.mit.edu	37	16	14029437	14029437	+	Missense_Mutation	SNP	C	C	T	rs139197943		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr16:14029437C>T	ENST00000311895.7	+	8	1657	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	550					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CCTGAAAGAACCCCTCACTAT	0.463000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				22	53					0	0	0.069288	0	0
TNRC18	84629	broad.mit.edu	37	7	5427413	5427413	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr7:5427413G>A	ENST00000399537.4	-	5	2390	c.2042C>T	c.(2041-2043)cCt>cTt	p.P681L	TNRC18_ENST00000430969.1_Missense_Mutation_p.P681L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	681							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AATGCCCACAGGCGGGTGTCG	0.701000													20	35					0	0	0.055883	0	0
PSG8	440533	broad.mit.edu	37	19	43268311	43268311	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:43268311T>C	ENST00000404209.4	-	2	283	c.187A>G	c.(187-189)Act>Gct	p.T63A	PSG8_ENST00000401467.2_Missense_Mutation_p.T63A|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.T63A	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	63	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATGTAGCCAGTAAGATTCTGG	0.458000													90	197					0	0	0.048971	0	0
C1orf27	54953	broad.mit.edu	37	1	186367550	186367550	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:186367550C>A	ENST00000367470.3	+	9	1053	c.817C>A	c.(817-819)Ccc>Acc	p.P273T	C1orf27_ENST00000287859.6_Missense_Mutation_p.P296T|C1orf27_ENST00000432021.3_Missense_Mutation_p.P273T|C1orf27_ENST00000419367.3_Missense_Mutation_p.P264T	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	296						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CAGCAGTAAACCCAAAGTTAA	0.378000													28	30					7.41945e-09	8.37066e-09	0.027356	1	0
EPHB1	2047	broad.mit.edu	37	3	134884901	134884901	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr3:134884901C>T	ENST00000398015.3	+	8	2047	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	EPHB1_ENST00000493838.1_Silent_p.I120I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	559						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGTGGCCATCTCTATCGTCT	0.587000													32	106					0	0	0.050027	0	0
SPEN	23013	broad.mit.edu	37	1	16254617	16254617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:16254617C>G	ENST00000375759.3	+	11	2086	c.1882C>G	c.(1882-1884)Caa>Gaa	p.Q628E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	628	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGACTATAACCAAGATCGTAC	0.403000													32	56					0	0	0.050027	0	0
LACE1	246269	broad.mit.edu	37	6	108645100	108645100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr6:108645100G>A	ENST00000368977.4	+	2	397	c.211G>A	c.(211-213)Gtt>Att	p.V71I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	71							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGCTTTGGCCGTTTGCCATGG	0.398000													118	74					0	0	0.048971	0	0
NTRK1	4914	broad.mit.edu	37	1	156846199	156846199	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:156846199A>C	ENST00000368196.3	+	13	1742	c.1622A>C	c.(1621-1623)aAg>aCg	p.K541T	NTRK1_ENST00000524377.1_Missense_Mutation_p.K547T|NTRK1_ENST00000358660.3_Missense_Mutation_p.K544T|NTRK1_ENST00000392302.2_Missense_Mutation_p.K511T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	547	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAGGCACTGAAGGAGGCGTCC	0.657000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			6	27					0	0	0.021553	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42292147	42292147	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr15:42292147G>A	ENST00000399518.3	-	9	1390	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L273F	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	295					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCATCGGAAAGGCAGTCGAGG	0.642000													4	6					0	0	0.014758	0	0
CSF2RB	1439	broad.mit.edu	37	22	37322077	37322077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr22:37322077G>A	ENST00000262825.5	+	4	466	c.249G>A	c.(247-249)tgG>tgA	p.W83*	CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.W24*|CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.W83*|CSF2RB_ENST00000403662.3_Nonsense_Mutation_p.W83*	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	83					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACATGCCCTGGTCAGCCTGCC	0.572000													11	36					0	0	0.013537	0	0
ACACA	31	broad.mit.edu	37	17	35631184	35631184	+	Missense_Mutation	SNP	C	C	T	rs73982299	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr17:35631184C>T	ENST00000353139.5	-	9	1389	c.908G>A	c.(907-909)cGt>cAt	p.R303H	ACACA_ENST00000335166.5_Missense_Mutation_p.R188H|ACACA_ENST00000394406.2_Missense_Mutation_p.R266H|ACACA_ENST00000360679.3_Missense_Mutation_p.R208H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	266	ATP-grasp.|Biotin carboxylation.			E -> K (in Ref. 1; AAC50139).	acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAGTCCACACGAAGACCTGC	0.388000													26	46					0	0	0.024334	0	0
CLN3	1201	broad.mit.edu	37	16	28497943	28497943	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr16:28497943G>A	ENST00000569430.1	-	9	1308	c.489C>T	c.(487-489)ggC>ggT	p.G163G	CLN3_ENST00000360019.2_Silent_p.G163G|CLN3_ENST00000565316.1_Silent_p.G163G|CLN3_ENST00000395653.4_Silent_p.G63G|CLN3_ENST00000359984.7_Silent_p.G163G|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000355477.5_Silent_p.G163G|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000357857.9_Silent_p.G109G|CLN3_ENST00000568224.1_Silent_p.G85G|CLN3_ENST00000354630.5_Silent_p.G163G|CLN3_ENST00000333496.9_Silent_p.G139G|CLN3_ENST00000567963.1_Silent_p.G163G|CLN3_ENST00000535392.1_Silent_p.G85G			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	163					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CCTCCCCAAGGCCTGATGAGA	0.607000													3	9					0	0	0.004672	0	0
FAM135B	51059	broad.mit.edu	37	8	139165127	139165127	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr8:139165127C>G	ENST00000395297.1	-	13	1761	c.1591G>C	c.(1591-1593)Gtg>Ctg	p.V531L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	531								p.V531L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACATCTGCCACTGGATATGTC	0.458000										HNSCC(54;0.14)			34	125					0	0	0.059317	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562297	145562297	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:145562297C>T	ENST00000355594.4	+	10	2072	c.1985C>T	c.(1984-1986)gCg>gTg	p.A662V		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	662										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCCAGAGGCGCAGGTCCAG	0.632000													19	41					0	0	0.055883	0	0
DESI1	27351	broad.mit.edu	37	22	42000099	42000099	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr22:42000099G>C	ENST00000263256.6	-	4	495	c.239C>G	c.(238-240)aCa>aGa	p.T80R	DESI1_ENST00000463886.1_5'UTR	NM_015704.2	NP_056519.1	Q6ICB0	PPDE2_HUMAN	desumoylating isopeptidase 1	80	PPPDE peptidase.																GATTTCTTCTGTGACTTCTGT	0.527000													24	79					0	0	0.076483	0	0
KCNT2	343450	broad.mit.edu	37	1	196309633	196309633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:196309633G>A	ENST00000367433.5	-	16	1722	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R491*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R541*|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.R152*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	541	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATAATGTATCGAGGACCTGGA	0.323000													14	34					0	0	0.038395	0	0
HIPK1	204851	broad.mit.edu	37	1	114506106	114506106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:114506106G>T	ENST00000369558.1	+	10	2433	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	HIPK1_ENST00000406344.1_Missense_Mutation_p.G340V|HIPK1_ENST00000369561.4_Missense_Mutation_p.G700V|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000340480.4_Missense_Mutation_p.G360V|HIPK1_ENST00000369554.2_Intron|HIPK1_ENST00000369559.4_Missense_Mutation_p.G734V|HIPK1_ENST00000426820.2_Missense_Mutation_p.G734V|HIPK1_ENST00000369553.1_Missense_Mutation_p.G340V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCGCAGCCGGCCGGCCGGCG	0.517000													22	42					1.10513e-12	1.35072e-12	0.069288	1	0
ACAT2	39	broad.mit.edu	37	6	160199796	160199796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr6:160199796C>T	ENST00000367048.4	+	9	2889	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	TCP1_ENST00000321394.7_3'UTR|ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.R406C	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	377						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGGCAGAAGTCGTGGTGTTGC	0.478000													33	108					0	0	0.050027	0	0
GPR125	166647	broad.mit.edu	37	4	22439976	22439976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr4:22439976G>A	ENST00000334304.5	-	8	1257	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.R330C|GPR125_ENST00000508133.1_Missense_Mutation_p.R104C	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	330	Ig-like.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTATTCCCACGTTTGGTCTGG	0.423000													29	46					0	0	0.037714	0	0
RASAL2	9462	broad.mit.edu	37	1	178423671	178423671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:178423671C>G	ENST00000448150.3	+	12	2863	c.2045C>G	c.(2044-2046)tCt>tGt	p.S682C	RASAL2_ENST00000367649.3_Missense_Mutation_p.S700C|RASAL2_ENST00000462775.1_Missense_Mutation_p.S552C	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	552					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTGGAGATCTCTAATCCAGAC	0.423000													37	77					0	0	0.023175	0	0
TEX10	54881	broad.mit.edu	37	9	103091488	103091488	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr9:103091488C>A	ENST00000374902.4	-	7	1735	c.1559G>T	c.(1558-1560)cGg>cTg	p.R520L	TEX10_ENST00000535814.1_Missense_Mutation_p.R523L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	520						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TAACAAAGTCCGAACTGGAAG	0.343000													52	195					2.81731e-22	3.64593e-22	0.048971	1	0
ZIC1	7545	broad.mit.edu	37	3	147128258	147128258	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr3:147128258T>C	ENST00000282928.4	+	1	1088	c.359T>C	c.(358-360)cTc>cCc	p.L120P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	120					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAGCACAGCCTCTTTGCTGCA	0.706000													16	40					0	0	0.038395	0	0
PHF20	51230	broad.mit.edu	37	20	34389470	34389470	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr20:34389470G>T	ENST00000374012.3	+	2	155	c.26G>T	c.(25-27)cGa>cTa	p.R9L	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.R9L			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCTAACAGACGAGGAATCAGC	0.408000													15	37					1.5739e-10	1.87166e-10	0.028581	1	0
ANKRD36	375248	broad.mit.edu	37	2	97784187	97784187	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr2:97784187A>G	ENST00000420699.2	+	3	663	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	ANKRD36_ENST00000461153.2_Missense_Mutation_p.Y140C	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	140										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TACGCTGTGTATAATGAAGAT	0.398000													21	11					0	0	0.062417	0	0
AP2A1	160	broad.mit.edu	37	19	50302996	50302996	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:50302996G>A	ENST00000354293.5	+	10	1411	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	AP2A1_ENST00000359032.5_Silent_p.T415T	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	415					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACCTGGAGACGGCAGACTACG	0.642000													9	18					0	0	0.058154	0	0
ATRX	546	broad.mit.edu	37	X	76776335	76776335	+	Silent	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chrX:76776335T>C	ENST00000373344.5	-	34	7345	c.7131A>G	c.(7129-7131)caA>caG	p.Q2377Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.Q2339Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2377					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTGGCTGGCTTGTCTACTTA	0.378000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	10					0	0	0.038395	0	0
RAB21	23011	broad.mit.edu	37	12	72176380	72176380	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr12:72176380T>G	ENST00000261263.3	+	6	733	c.477T>G	c.(475-477)taT>taG	p.Y159*		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	159					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						CAAAACATTATCATACTTCAG	0.303000													10	22					0	0	0.016723	0	0
ZC3H14	79882	broad.mit.edu	37	14	89063145	89063145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr14:89063145G>A	ENST00000251038.5	+	10	1572	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	ZC3H14_ENST00000336693.4_Missense_Mutation_p.M415I|ZC3H14_ENST00000318308.6_Missense_Mutation_p.M151I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.M449I|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.M449I|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000359301.3_Missense_Mutation_p.M415I|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000555900.1_Missense_Mutation_p.M151I|ZC3H14_ENST00000302216.8_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	449						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CTCTGCAGATGAGTCAAGGTT	0.383000													23	56					0	0	0.069288	0	0
CCDC159	126075	broad.mit.edu	37	19	11464488	11464488	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:11464488A>T	ENST00000588790.1	+	11	1157	c.710A>T	c.(709-711)cAg>cTg	p.Q237L	CCDC159_ENST00000458408.1_Missense_Mutation_p.Q237L			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	352										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CACGTGCTGCAGAACTCCATA	0.597000													4	7					0	0	0.014758	0	0
CCDC50	152137	broad.mit.edu	37	3	191098615	191098615	+	Splice_Site	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr3:191098615A>C	ENST00000392455.3	+	8	1207		c.e8-1		CCDC50_ENST00000392456.3_Splice_Site	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TATTTTGTTTAGGAAATCGCT	0.368000													11	42					0	0	0.010729	0	0
TMEM168	64418	broad.mit.edu	37	7	112424255	112424255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr7:112424255G>T	ENST00000312814.5	-	2	1186	c.626C>A	c.(625-627)gCa>gAa	p.A209E	TMEM168_ENST00000454074.1_Missense_Mutation_p.A209E	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	209						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TAACAAAACTGCAAAAATAAC	0.333000													11	40					6.40141e-05	6.60145e-05	0.010729	1	0
OBSCN	84033	broad.mit.edu	37	1	228434319	228434319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:228434319C>A	ENST00000570156.2	+	14	4198	c.4124C>A	c.(4123-4125)gCc>gAc	p.A1375D	OBSCN_ENST00000422127.1_Missense_Mutation_p.A1283D|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1283D|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	357	Ig-like 14.				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)				TGTGAGGTGGCCCAGGCCCAG	0.612000													33	45					2.85442e-18	3.65809e-18	0.045705	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530443	84530443	+	RNA	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr9:84530443G>A	ENST00000527857.1	+	0	465					NR_026851.1																						GCTGTCTTGGGAGTCCCTGAA	0.532000													20	38					0	0	0.055883	0	0
KCNA2	3737	broad.mit.edu	37	1	111147063	111147063	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:111147063C>T	ENST00000485317.1	-	3	1015	c.342G>A	c.(340-342)cgG>cgA	p.R114R	KCNA2_ENST00000369770.3_Silent_p.R114R|KCNA2_ENST00000440270.1_Silent_p.R114R|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.R114R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	114						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GCTCATAAAACCGAATTTCTT	0.478000													14	34					0	0	0.016723	0	0
SRSF6	6431	broad.mit.edu	37	20	42088474	42088474	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr20:42088474G>C	ENST00000244020.3	+	3	426	c.320G>C	c.(319-321)cGt>cCt	p.R107P		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	107					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCACCTGTTCGTACAGAATAC	0.393000													38	58					0	0	0.023175	0	0
TPP2	7174	broad.mit.edu	37	13	103271177	103271177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr13:103271177C>T	ENST00000376052.3	+	5	617	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	TPP2_ENST00000376065.4_Missense_Mutation_p.H201Y			P29144	TPP2_HUMAN	tripeptidyl peptidase II	201					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGGTATGGCATGATGGCGA	0.368000													29	85					0	0	0.050027	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275888	130275888	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr11:130275888G>A	ENST00000257359.6	-	9	2941	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	745	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCAGGTTGCCGTTGAGCAGGT	0.597000													17	70					0	0	0.033300	0	0
RSBN1	54665	broad.mit.edu	37	1	114310877	114310877	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:114310877A>G	ENST00000261441.5	-	5	1856	c.1793T>C	c.(1792-1794)gTt>gCt	p.V598A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	598						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACTCCAACAGCAGCCGT	0.438000													16	35					0	0	0.038395	0	0
FARSB	10056	broad.mit.edu	37	2	223497951	223497951	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr2:223497951C>A	ENST00000281828.6	-	7	945	c.682G>T	c.(682-684)Ggt>Tgt	p.G228C	FARSB_ENST00000536361.1_Missense_Mutation_p.G129C	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	228					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	AGGACGACACCATTGCTATCA	0.333000													32	83					9.62906e-15	1.19909e-14	0.025465	1	0
SHROOM3	57619	broad.mit.edu	37	4	77676119	77676119	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr4:77676119C>T	ENST00000296043.6	+	7	5436	c.4483C>T	c.(4483-4485)Cgg>Tgg	p.R1495W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1495					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTCTGTCCTGCGGGACTCCCC	0.577000													20	55					0	0	0.062417	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117351685	117351685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr7:117351685C>T	ENST00000160373.3	-	23	4989	c.4898G>A	c.(4897-4899)aGc>aAc	p.S1633N	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1633										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGTATTACTGCTGCTGCTGCT	0.383000													4	89					0	0	0.009096	0	0
ATP11B	23200	broad.mit.edu	37	3	182597414	182597414	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr3:182597414A>G	ENST00000323116.5	+	20	2643	c.2383A>G	c.(2383-2385)Atg>Gtg	p.M795V		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	795					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATGCTGTCGTATGGCTCCACT	0.353000													22	67					0	0	0.018920	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686279	108686279	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr12:108686279C>T	ENST00000312143.7	-	3	824	c.461G>A	c.(460-462)cGc>cAc	p.R154H	CMKLR1_ENST00000397688.2_Missense_Mutation_p.R152H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R152H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R154H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R154H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	154					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTAAGCCAGGCGAACGCTGCG	0.562000													10	38					0	0	0.058154	0	0
CTBP2	1488	broad.mit.edu	37	10	126682531	126682531	+	Silent	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr10:126682531C>A	ENST00000309035.6	-	6	2554	c.2424G>T	c.(2422-2424)gtG>gtT	p.V808V	CTBP2_ENST00000411419.2_Silent_p.V268V|CTBP2_ENST00000337195.5_Silent_p.V268V|CTBP2_ENST00000494626.2_Silent_p.V268V|CTBP2_ENST00000334808.6_Silent_p.V336V|CTBP2_ENST00000531469.1_Silent_p.V268V	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	268					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGCTGCGTTCACAAGGAATG	0.557000													40	66					3.4345e-17	4.35917e-17	0.042209	1	0
CENPBD1	92806	broad.mit.edu	37	16	90038291	90038291	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr16:90038291T>G	ENST00000314994.3	-	1	651	c.40A>C	c.(40-42)Agt>Cgt	p.S14R	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	14	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						CTTTTGGCACTAGGGATGACA	0.502000													9	23					0	0	0.058154	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244657	1244657	+	RNA	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr4:1244657C>T	ENST00000581398.1	+	0	611				CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA	NR_033339.1																						GTCCAGCAAACATCACATAAG	0.552000													17	32					0	0	0.049695	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570579	20570579	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr16:20570579A>G	ENST00000329697.6	-	3	536	c.368T>C	c.(367-369)aTc>aCc	p.I123T	ACSM2B_ENST00000567001.1_Missense_Mutation_p.I123T|ACSM2B_ENST00000565232.1_Missense_Mutation_p.I123T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I44T|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I123T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	123					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCAGCCCAGGATCACCAGCCA	0.577000													8	17					0	0	0.058154	0	0
CTNNA3	29119	broad.mit.edu	37	10	68139106	68139106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr10:68139106G>T	ENST00000433211.1	-	12	1710	c.1536C>A	c.(1534-1536)agC>agA	p.S512R	CTNNA3_ENST00000373744.4_Missense_Mutation_p.S512R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	512					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAAGATATGGCTTTCTGTAA	0.378000													18	40					2.35188e-11	2.82226e-11	0.038395	1	0
CNKSR2	22866	broad.mit.edu	37	X	21534662	21534662	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chrX:21534662C>G	ENST00000425654.2	+	9	1350	c.870C>G	c.(868-870)atC>atG	p.I290M	CNKSR2_ENST00000279451.4_Missense_Mutation_p.I290M|CNKSR2_ENST00000379510.3_Missense_Mutation_p.I290M|CNKSR2_ENST00000543067.1_Intron	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	290	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTGGTGTTATCTTAACTTTGA	0.433000													29	15					0	0	0.034045	0	0
ACSS3	79611	broad.mit.edu	37	12	81545669	81545669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr12:81545669C>A	ENST00000548058.1	+	6	1878	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ACSS3_ENST00000261206.3_Nonsense_Mutation_p.S322*|ACSS3_ENST00000548324.1_Nonsense_Mutation_p.S5*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	323						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTACACTGGTCAATGTCTTCC	0.353000													19	45					5.26018e-13	6.48919e-13	0.062417	1	0
CENPE	1062	broad.mit.edu	37	4	104070291	104070291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr4:104070291C>G	ENST00000265148.3	-	27	3760	c.3671G>C	c.(3670-3672)aGa>aCa	p.R1224T	CENPE_ENST00000380026.3_Missense_Mutation_p.R1199T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1224					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCAATTTCTCTTATATATCC	0.338000													21	39					0	0	0.069288	0	0
KIF14	9928	broad.mit.edu	37	1	200555247	200555247	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:200555247T>C	ENST00000367350.4	-	19	3661	c.3223A>G	c.(3223-3225)Agg>Ggg	p.R1075G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1075	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTTTTATCCCTATTATTCCGA	0.303000													3	42					0	0	0.004672	0	0
ARMC9	80210	broad.mit.edu	37	2	232209757	232209757	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr2:232209757T>A	ENST00000349938.4	+	21	2143	c.1949T>A	c.(1948-1950)cTg>cAg	p.L650Q	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	650							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GATGAGCCCCTGCAAAGGCCC	0.547000													33	52					0	0	0.054565	0	0
STRA6	64220	broad.mit.edu	37	15	74490148	74490148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr15:74490148G>A	ENST00000323940.5	-	3	370	c.125C>T	c.(124-126)tCc>tTc	p.S42F	STRA6_ENST00000535552.1_Missense_Mutation_p.S79F|STRA6_ENST00000416286.3_Missense_Mutation_p.S42F|STRA6_ENST00000449139.2_Missense_Mutation_p.S42F|STRA6_ENST00000574278.1_Missense_Mutation_p.S57F|STRA6_ENST00000432245.2_Missense_Mutation_p.S42F|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.S42F|STRA6_ENST00000395105.4_Missense_Mutation_p.S42F|STRA6_ENST00000563965.1_Missense_Mutation_p.S81F	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	42					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGTGTGGCAGGAGGGCACTTC	0.622000													3	25					0	0	0.004672	0	0
CPT1A	1374	broad.mit.edu	37	11	68552321	68552321	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr11:68552321G>A	ENST00000265641.5	-	10	1279	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	CPT1A_ENST00000540367.1_Silent_p.P375P|CPT1A_ENST00000539743.1_Silent_p.P375P|CPT1A_ENST00000376618.2_Silent_p.P375P	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	375					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TGGCCTCCCCGGGCTGAGGCT	0.642000													28	30					0	0	0.050027	0	0
VSX1	30813	broad.mit.edu	37	20	25057052	25057052	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr20:25057052C>A	ENST00000376709.4	-	5	1206	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L	VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	315					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TCAGGGCTCACTTTATCTGAG	0.547000													37	53					5.73237e-09	6.52304e-09	0.025465	1	0
C1orf198	84886	broad.mit.edu	37	1	231004121	231004121	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:231004121G>T	ENST00000366663.5	-	1	278	c.138C>A	c.(136-138)gaC>gaA	p.D46E	C1orf198_ENST00000470540.1_Missense_Mutation_p.D8E|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	46										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCTTCTCCTTGTCCTGCATGA	0.682000													15	16					1.15088e-07	1.23509e-07	0.028581	1	0
MARK2	2011	broad.mit.edu	37	11	63666242	63666242	+	Silent	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr11:63666242A>G	ENST00000402010.2	+	6	990	c.411A>G	c.(409-411)gtA>gtG	p.V137V	MARK2_ENST00000513765.2_Silent_p.V104V|MARK2_ENST00000408948.3_Silent_p.V104V|MARK2_ENST00000508192.1_Silent_p.V137V|MARK2_ENST00000377810.3_Silent_p.V104V|MARK2_ENST00000315032.8_Silent_p.V137V|MARK2_ENST00000509502.2_Silent_p.V104V|MARK2_ENST00000361128.5_Silent_p.V137V|MARK2_ENST00000350490.7_Silent_p.V137V|MARK2_ENST00000413835.2_Silent_p.V137V|MARK2_ENST00000377809.4_Silent_p.V137V|MARK2_ENST00000425897.2_Silent_p.V104V|MARK2_ENST00000502399.3_Silent_p.V137V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	137	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGGAGAGGTATTTGATTACC	0.552000													17	52					0	0	0.033300	0	0
SEC23A	10484	broad.mit.edu	37	14	39509955	39509955	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr14:39509955G>A	ENST00000537403.1	-	14	2719	c.1517C>T	c.(1516-1518)aCt>aTt	p.T506I	SEC23A_ENST00000307712.6_Missense_Mutation_p.T708I|SEC23A_ENST00000545328.2_Missense_Mutation_p.T679I|SEC23A_ENST00000536508.1_Missense_Mutation_p.T606I			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	708					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCATGTTCAGTGTCAATGTA	0.428000													83	84					0	0	0.048971	0	0
ISM1	140862	broad.mit.edu	37	20	13279750	13279750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr20:13279750C>T	ENST00000262487.3	+	6	1045	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	347	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CAAGGACTTCCGCTGGAAGGA	0.627000													4	26					0	0	0.009096	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451945	48451945	+	Silent	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr3:48451945C>A	ENST00000358536.4	-	30	5708	c.5439G>T	c.(5437-5439)ggG>ggT	p.G1813G	PLXNB1_ENST00000358459.4_Silent_p.G1630G|PLXNB1_ENST00000296440.6_Silent_p.G1813G|PLXNB1_ENST00000448774.2_Silent_p.G424G|PLXNB1_ENST00000456774.1_Silent_p.G1630G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1813					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAATGAGGTGCCCGGCCACCC	0.597000													18	21					4.96729e-08	5.41886e-08	0.049695	1	0
TPTE2	93492	broad.mit.edu	37	13	20025355	20025355	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr13:20025355C>T	ENST00000400230.2	-	11	796	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	TPTE2_ENST00000382977.4_Missense_Mutation_p.R251Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R211Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R174Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R140Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R211Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R140Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R174Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	251	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATCTAGAAACCGCACAACTTC	0.338000													20	41					0	0	0.069288	0	0
ZNF510	22869	broad.mit.edu	37	9	99522150	99522150	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr9:99522150G>C	ENST00000375231.1	-	6	1612	c.962C>G	c.(961-963)tCa>tGa	p.S321*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.S321*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTCCACAGTTGACTTCTCAAA	0.358000													24	78					0	0	0.024334	0	0
CACNA1B	774	broad.mit.edu	37	9	140811748	140811748	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr9:140811748C>T	ENST00000371372.1	+	6	976	c.831C>T	c.(829-831)tgC>tgT	p.C277C	CACNA1B_ENST00000277551.2_Silent_p.C277C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.C277C|CACNA1B_ENST00000371357.1_Silent_p.C277C|CACNA1B_ENST00000371363.1_Silent_p.C277C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	277					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCGGCTGTGCGAGGGCGACA	0.572000													43	54					0	0	0.039052	0	0
INSL4	3641	broad.mit.edu	37	9	5233853	5233853	+	Silent	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr9:5233853A>G	ENST00000239316.4	+	2	501	c.396A>G	c.(394-396)ggA>ggG	p.G132G		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	132					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GTGACGATGGAACTTCAGTTA	0.363000													38	99					0	0	0.074837	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55239225	55239225	+	Silent	SNP	T	T	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:55239225T>C	ENST00000291860.1	+	4	522	c.504T>C	c.(502-504)gtT>gtC	p.V168V	KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	168	Ig-like C2-type 2.		V -> I (in allele KIR3DL3*00101, allele KIR3DL3*00102, allele KIR3DL3*00103, allele KIR3DL3*0030101, allele KIR3DL3*00901, allele KIR3DL3*00902, allele KIR3DL3*010 and allele KIR3DL3*028; dbSNP:rs270790).			integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGCGCCTCGTTGGACAGCTCC	0.557000													4	71					0	0	0.009096	0	0
FASLG	356	broad.mit.edu	37	1	172634881	172634881	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:172634881G>T	ENST00000367721.2	+	4	755	c.571G>T	c.(571-573)Gta>Tta	p.V191L	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	191					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GCTGTACTTTGTATATTCCAA	0.468000													25	61					1.42536e-11	1.72612e-11	0.024334	1	0
SCN9A	6335	broad.mit.edu	37	2	167055277	167055277	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr2:167055277A>G	ENST00000375387.4	-	27	6215	c.5875T>C	c.(5875-5877)Tat>Cat	p.Y1959H	SCN9A_ENST00000409672.1_Missense_Mutation_p.Y1947H|SCN9A_ENST00000409435.1_Missense_Mutation_p.Y1958H|SCN9A_ENST00000303354.6_Missense_Mutation_p.Y1959H|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1958						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACACTATCATATGAAGGTGGA	0.358000													3	17					0	0	0.014758	0	0
CREBBP	1387	broad.mit.edu	37	16	3788646	3788646	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr16:3788646A>C	ENST00000262367.5	-	26	5117	c.4308T>G	c.(4306-4308)agT>agG	p.S1436R	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1398R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1436	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAAATGAATACTATCCAGAT	0.418000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	18					0	0	0.014758	0	0
CREBBP	1387	broad.mit.edu	37	16	3788645	3788645	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr16:3788645T>A	ENST00000262367.5	-	26	5118	c.4309A>T	c.(4309-4311)Att>Ttt	p.I1437F	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1399F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1437	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGAAATGAATACTATCCAGA	0.418000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						3	19					0	0	0.009096	0	0
OSBP2	23762	broad.mit.edu	37	22	31286872	31286872	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr22:31286872G>A	ENST00000332585.6	+	8	1885	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	OSBP2_ENST00000382310.3_Missense_Mutation_p.R545H|OSBP2_ENST00000437268.2_Missense_Mutation_p.R336H|OSBP2_ENST00000403222.3_Missense_Mutation_p.R428H|OSBP2_ENST00000401475.1_Missense_Mutation_p.R227H|OSBP2_ENST00000407373.1_Missense_Mutation_p.R421H|OSBP2_ENST00000446658.2_Missense_Mutation_p.R593H|OSBP2_ENST00000535268.1_Missense_Mutation_p.R138H	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	594					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACAGTGCACCGCATCGCCAAG	0.642000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	36					0	0	0.030593	0	0
JAK3	3718	broad.mit.edu	37	19	17941381	17941381	+	Silent	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:17941381G>A	ENST00000458235.1	-	22	3126	c.3027C>T	c.(3025-3027)gaC>gaT	p.D1009D	JAK3_ENST00000527670.1_Silent_p.D1009D|JAK3_ENST00000534444.1_Silent_p.D1009D	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1009	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGCTCCAGACGTCTGACTGGC	0.597000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								18	24					0	0	0.043863	0	0
MN1	4330	broad.mit.edu	37	22	28193502	28193502	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr22:28193502C>G	ENST00000302326.4	-	1	3984	c.3030G>C	c.(3028-3030)tgG>tgC	p.W1010C		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1010							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCCCCTTCCCCCAGGATGGCG	0.692000			T	ETV6	"""AML, meningioma"""								21	42					0	0	0.069288	0	0
GRIA4	2893	broad.mit.edu	37	11	105804580	105804580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr11:105804580G>T	ENST00000393127.2	+	14	2625	c.2179G>T	c.(2179-2181)Gag>Tag	p.E727*	GRIA4_ENST00000530497.1_Nonsense_Mutation_p.E727*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.E727*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.E727*	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	727					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTTTCTCCTGGAGTCCACTAT	0.488000													20	31					4.63292e-17	5.82425e-17	0.049695	1	0
HELT	391723	broad.mit.edu	37	4	185940787	185940787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr4:185940787C>T	ENST00000338875.4	+	3	274	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	HELT_ENST00000505610.1_Intron|HELT_ENST00000515777.1_Intron	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	92	Helix-loop-helix motif.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGGCGAACCTCAGGAGGCTCT	0.746000													3	13					0	0	0.009096	0	0
PA2G4	5036	broad.mit.edu	37	12	56506656	56506656	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr12:56506656A>G	ENST00000303305.6	+	13	1588	c.1169A>G	c.(1168-1170)aAt>aGt	p.N390S	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	390	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TTAGAAGAAAATGAAGCTGGG	0.517000													27	65					0	0	0.059317	0	0
KCNA10	3744	broad.mit.edu	37	1	111060811	111060811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr1:111060811C>T	ENST00000369771.2	-	1	986	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	200			R -> H (in a colorectal cancer sample; somatic mutation).			voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R200H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCAGAACTGACGGTGGATGTC	0.547000													27	45					0	0	0.021523	0	0
DAZAP2	9802	broad.mit.edu	37	12	51636287	51636287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr12:51636287C>T	ENST00000549555.1	+	4	559	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000439799.2_3'UTR|DAZAP2_ENST00000449723.3_3'UTR|DAZAP2_ENST00000412716.3_3'UTR|DAZAP2_ENST00000551313.1_3'UTR|DAZAP2_ENST00000549732.2_3'UTR	NM_001136266.1	NP_001129738.1	Q15038	DAZP2_HUMAN	DAZ associated protein 2	0							WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CACATACCTTCAGCACTTCTC	0.483000													19	46					0	0	0.038395	0	0
OR5D14	219436	broad.mit.edu	37	11	55563815	55563815	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr11:55563815T>A	ENST00000335605.1	+	1	784	c.784T>A	c.(784-786)Tgt>Agt	p.C262S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTCCTTTACTGTGTACCCAA	0.488000													21	30					0	0	0.055883	0	0
CSNK2A1	1457	broad.mit.edu	37	20	468128	468128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr20:468128G>A	ENST00000217244.3	-	12	1291	c.916C>T	c.(916-918)Cga>Tga	p.R306*	CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R306*|CSNK2A1_ENST00000400217.1_Nonsense_Mutation_p.R170*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R306*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	306	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGGTCATATCGCAGCAGTTTG	0.527000													39	68					0	0	0.027894	0	0
NR4A1	3164	broad.mit.edu	37	12	52451148	52451148	+	Silent	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr12:52451148C>A	ENST00000545748.1	+	7	2531	c.1536C>A	c.(1534-1536)ggC>ggA	p.G512G	NR4A1_ENST00000360284.3_Silent_p.G471G|NR4A1_ENST00000243050.1_Silent_p.G458G|NR4A1_ENST00000394824.2_Silent_p.G458G|NR4A1_ENST00000394825.1_Silent_p.G458G|NR4A1_ENST00000550082.1_Silent_p.G471G			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	458					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTAAGCCAGGCGAGGGCAAGC	0.607000													17	33					3.41278e-10	3.98661e-10	0.033300	1	0
OSBPL5	114879	broad.mit.edu	37	11	3121473	3121473	+	Silent	SNP	C	C	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr11:3121473C>T	ENST00000263650.7	-	14	1695	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	OSBPL5_ENST00000389989.3_Silent_p.S444S|OSBPL5_ENST00000348039.5_Silent_p.S444S|OSBPL5_ENST00000542243.1_Silent_p.S143S|OSBPL5_ENST00000525498.1_Silent_p.S423S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	512					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCAGCAGCGCCGACAGCGAGT	0.607000													11	13					0	0	0.010729	0	0
PTPRT	11122	broad.mit.edu	37	20	40730876	40730876	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr20:40730876C>A	ENST00000373198.3	-	27	3903	c.3668G>T	c.(3667-3669)cGg>cTg	p.R1223L	PTPRT_ENST00000373187.1_Missense_Mutation_p.R1201L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1200L|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1204L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1191L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1211L|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1210L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1201	Tyrosine-protein phosphatase 2.				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)				ATCATGGTTCCGGGGCAGGAG	0.557000													20	29					2.4624e-09	2.8264e-09	0.049695	1	0
RNF123	63891	broad.mit.edu	37	3	49742142	49742142	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr3:49742142A>G	ENST00000327697.6	+	22	2056	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	RNF123_ENST00000432042.1_Missense_Mutation_p.M492V	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	638						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTCAACCGCCATGGATGACCT	0.587000													4	6					0	0	0.014758	0	0
TTC7B	145567	broad.mit.edu	37	14	91007854	91007854	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr14:91007854G>T	ENST00000357056.2	-	21	2562	c.2441C>A	c.(2440-2442)gCc>gAc	p.A814D	TTC7B_ENST00000328459.6_Missense_Mutation_p.A797D|TTC7B_ENST00000554654.1_5'UTR			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	797							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GACCTCGTGGGCTGTCGAGTT	0.647000													12	42					1.5842e-08	1.77216e-08	0.016723	1	0
KMT2D	8085	broad.mit.edu	37	12	49435983	49435983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr12:49435983G>A	ENST00000301067.7	-	28	5997	c.5998C>T	c.(5998-6000)Cag>Tag	p.Q2000*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGACTCCGCTGGTTATAGGAG	0.607000													7	7					0	0	0.047766	0	0
DGCR14	8220	broad.mit.edu	37	22	19130247	19130247	+	Missense_Mutation	SNP	G	G	A	rs111488352	byFrequency	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr22:19130247G>A	ENST00000252137.6	-	2	339	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	99					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582000													5	112					0	0	0.014758	0	0
FMNL3	91010	broad.mit.edu	37	12	50044492	50044492	+	Missense_Mutation	SNP	C	C	A	rs149056505	by1000genomes	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr12:50044492C>A	ENST00000335154.5	-	17	2200	c.1967G>T	c.(1966-1968)cGc>cTc	p.R656L	FMNL3_ENST00000550488.1_Missense_Mutation_p.R656L|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656L|FMNL3_ENST00000352151.5_Missense_Mutation_p.R605L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	656	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CTCAGCCGAGCGGCCAGCCTT	0.582000													23	32					4.72057e-08	5.23627e-08	0.021523	1	0
SOS2	6655	broad.mit.edu	37	14	50597308	50597308	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr14:50597308G>T	ENST00000216373.5	-	20	3522	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	SOS2_ENST00000543680.1_Missense_Mutation_p.P1050Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1083					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGGAGAGGTTGGTGCTGACAC	0.423000													65	83					1.32218e-49	1.72799e-49	0.048971	1	0
ZNF333	84449	broad.mit.edu	37	19	14805946	14805946	+	Splice_Site	SNP	G	G	A			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr19:14805946G>A	ENST00000292530.6	+	3	218		c.e3+1		ZNF333_ENST00000601134.1_Splice_Site|ZNF333_ENST00000540689.2_Splice_Site|ZNF333_ENST00000601629.1_Splice_Site|ZNF333_ENST00000536363.1_Splice_Site	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GCCTCCAGGGGTAAGGCTGGC	0.582000													13	26					0	0	0.020292	0	0
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs58327065		TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.3	-	1	556_557	c.241_242insAGCAGC	c.(241-243)acc>AGCAGCacc	p.80_81insSS		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGATGCGGTGgctgctgctgc	0.698													7	6	---	---	---	---					
ME1	4199	broad.mit.edu	37	6	83937086	83937091	+	In_Frame_Del	DEL	ATTCTG	ATTCTG	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:83937086_83937091delATTCTG	ENST00000369705.3	-	11	1354_1359	c.1238_1243delCAGAAT	c.(1237-1245)ggt>g	p.AEC413del	ME1_ENST00000541327.1_In_Frame_Del_p.AEC247del|ME1_ENST00000543031.1_In_Frame_Del_p.AEC338del	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	413					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCTGCAGAACATTCTGCTTTGCTAGT	0.350													8	43	---	---	---	---					
DCBLD1	285761	broad.mit.edu	37	6	117865742	117865742	+	Splice_Site	DEL	T	T	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr6:117865742delT	ENST00000338728.5	+	13	1615		c.e13+2		DCBLD1_ENST00000534777.1_Splice_Site|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Splice_Site|DCBLD1_ENST00000368503.4_Splice_Site			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1						cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AGAAAACAGGTTGGTTGAAAA	0.403													13	45	---	---	---	---					
ZNF251	90987	broad.mit.edu	37	8	145947838	145947839	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr8:145947838_145947839delTC	ENST00000292562.7	-	5	1481_1482	c.1206_1207delGA	c.(1204-1209)gaaafs	p.EK402fs	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACATAGGGTTTCTCTCCAGTAT	0.441													45	214	---	---	---	---					
DDIT4	54541	broad.mit.edu	37	10	74034470	74034470	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr10:74034470delG	ENST00000307365.3	+	3	424	c.223delG	c.(223-225)ggfs	p.G75fs		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	75					apoptosis			p.G75R(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TTACCTGGATGGGGTGTCGTT	0.587													64	133	---	---	---	---					
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724	by1000genomes	TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr14:20296055_20296056insT	ENST00000568211.1	+	1	448_449	c.448_449insT	c.(448-450)tggfs	p.W150fs	OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.W150fs			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.530													52	573	---	---	---	---					
NPIPB5	100132247	broad.mit.edu	37	16	22545744	22545755	+	In_Frame_Del	DEL	TCCACCCTCAGC	TCCACCCTCAGC	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr16:22545744_22545755delTCCACCCTCAGC	ENST00000424340.1	+	7	1719_1730	c.1440_1451delTCCACCCTCAGC	c.(1438-1452)ctt>ct	p.LPPSA480del	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_In_Frame_Del_p.LPPSA480del	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCACTCCCCTTCCACCCTCAGCTCCACCCTCA	0.571													19	59	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578527	7578527	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	e03b22c3-93a2-41a7-894f-020298a5f713	g.chr17:7578527delA	ENST00000420246.2	-	5	535	c.403delT	c.(403-405)gcfs	p.C135fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C135fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.C135fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135R(11)|p.0?(8)|p.C135G(6)|p.C135fs*35(4)|p.C135S(4)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.C135fs*36(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F134fs*14(1)|p.C42R(1)|p.M133fs*13(1)|p.C3R(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)		GCCAGTTGGCAAAACATCTTG	0.567		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)			24	11	---	---	---	---					
ME1	4199	broad.mit.edu	37	6	83937086	83937091	+	In_Frame_Del	DEL	ATTCTG	ATTCTG	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr6:83937086_83937091delATTCTG	ENST00000369705.3	-	11	1354_1359	c.1238_1243delCAGAAT	c.(1237-1245)ggt>g	p.AEC413del	ME1_ENST00000543031.1_In_Frame_Del_p.AEC338del|ME1_ENST00000541327.1_In_Frame_Del_p.AEC247del	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	413					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCTGCAGAACATTCTGCTTTGCTAGT	0.350													8	43	---	---	---	---					
DCBLD1	285761	broad.mit.edu	37	6	117865742	117865742	+	Splice_Site	DEL	T	T	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr6:117865742delT	ENST00000338728.5	+	13	1615		c.e13+2		DCBLD1_ENST00000296955.8_Splice_Site|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000534777.1_Splice_Site|DCBLD1_ENST00000368503.4_Splice_Site			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1						cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AGAAAACAGGTTGGTTGAAAA	0.403													13	45	---	---	---	---					
ZNF251	90987	broad.mit.edu	37	8	145947838	145947839	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr8:145947838_145947839delTC	ENST00000292562.7	-	5	1481_1482	c.1206_1207delGA	c.(1204-1209)gaaafs	p.EK402fs	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACATAGGGTTTCTCTCCAGTAT	0.441													45	214	---	---	---	---					
DDIT4	54541	broad.mit.edu	37	10	74034470	74034470	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr10:74034470delG	ENST00000307365.3	+	3	424	c.223delG	c.(223-225)ggfs	p.G75fs		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	75					apoptosis			p.G75R(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TTACCTGGATGGGGTGTCGTT	0.587													64	133	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578527	7578527	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7434-01A-11D-2129-08	TCGA-CV-7434-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64e4e80-e6c6-42c8-8bc6-0fafb6475c51	c609bd55-58d8-47e2-a609-40fb839ef1e8	g.chr17:7578527delA	ENST00000420246.2	-	5	535	c.403delT	c.(403-405)gcfs	p.C135fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.C135fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.C135fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C135fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135R(11)|p.0?(8)|p.C135G(6)|p.C135fs*35(4)|p.C135S(4)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.C135fs*36(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F134fs*14(1)|p.C42R(1)|p.M133fs*13(1)|p.C3R(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)		GCCAGTTGGCAAAACATCTTG	0.567		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)			24	11	---	---	---	---					
