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
SLCO5A1	81796	broad.mit.edu	37	8	70667733	70667733	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:70667733A>T	ENST00000260126.3	-	4	1890	c.1184T>A	c.(1183-1185)cTg>cAg	p.L395Q	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L395Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L395Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	395						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTTCTCCTTCAGAACATCGTC	0.353000													33	2					0	0	1	0	0
PRNT	0	broad.mit.edu	37	20	4713271	4713271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr20:4713271G>A	ENST00000326539.2	-	2	989	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	PRNT_ENST00000418528.1_Missense_Mutation_p.L18F|PRNT_ENST00000423718.2_Missense_Mutation_p.L18F																endometrium(2)|lung(5)	7						aggtggagaagatgggaaaga	0.478000													12	13					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97217030	97217030	+	Missense_Mutation	SNP	C	C	G	rs190645		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:97217030C>G	ENST00000236228.6	+	3	171	c.89C>G	c.(88-90)tCt>tGt	p.S30C	PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000370198.1_Missense_Mutation_p.S30C|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000426398.2_Missense_Mutation_p.S30C|PTBP2_ENST00000394184.3_Missense_Mutation_p.S41C|PTBP2_ENST00000370197.1_Missense_Mutation_p.S30C	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	30							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGTCCGAACTCTAATATGAGC	0.358000													4	151					0	0	1	0	0
FOSB	2354	broad.mit.edu	37	19	45975905	45975905	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:45975905C>G	ENST00000353609.3	+	4	1244	c.652C>G	c.(652-654)Cac>Gac	p.H218D	ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.H179D|FOSB_ENST00000586615.1_Missense_Mutation_p.H169D|FOSB_ENST00000585836.1_Missense_Mutation_p.H143D|FOSB_ENST00000592436.1_Missense_Mutation_p.218_218insD|FOSB_ENST00000592811.1_Missense_Mutation_p.169_169insD|FOSB_ENST00000417353.2_Missense_Mutation_p.H182D|FOSB_ENST00000443841.2_Missense_Mutation_p.H75D	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	218					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GCTGGTGGCCCACAAACCGGG	0.607000													5	11					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9765343	9765343	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:9765343G>C	ENST00000262441.5	+	9	1505	c.992G>C	c.(991-993)tGg>tCg	p.W331S	GLP2R_ENST00000574745.1_Missense_Mutation_p.W151S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	331					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CTTAGGTGCTGGACAACAAAT	0.468000													6	104					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121383460	121383460	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:121383460C>A	ENST00000297848.3	+	48	5651	c.5381C>A	c.(5380-5382)cCt>cAt	p.P1794H	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1699H	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1794					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTGTGGGGCCCTGGAGTCTGA	0.478000													8	113					1.12685e-05	1.20034e-05	1	1	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	62					0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75041108	75041108	+	Silent	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:75041108T>C	ENST00000395759.2	+	3	466	c.439T>C	c.(439-441)Tta>Cta	p.L147L	MTHFD2L_ENST00000331145.6_Silent_p.L89L|MTHFD2L_ENST00000433372.1_Silent_p.L12L|MTHFD2L_ENST00000325278.6_Silent_p.L89L	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	89					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATTAGTTCAGTTACCACTACC	0.353000													5	113					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74673065	74673065	+	Splice_Site	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:74673065G>C	ENST00000334011.5	+	6	1008		c.e6-1			NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3							nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTTCTCTGCAGTCCCTGTGTT	0.502000													97	138					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38813481	38813481	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:38813481C>T	ENST00000359357.3	+	34	4580	c.4326C>T	c.(4324-4326)acC>acT	p.T1442T	DNAH8_ENST00000449981.2_Silent_p.T1659T|DNAH8_ENST00000441566.1_Silent_p.T1442T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAAAGGAACCGAATCGGGAG	0.388000													6	113					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	54					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65541129	65541129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:65541129C>T	ENST00000356388.4	-	6	952	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	SPRED2_ENST00000443619.2_Missense_Mutation_p.A252T	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	255	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TCGCCCTTGGCGAAGCGCACG	0.642000													9	147					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								38	50					0	0	1	0	0
DAPL1	92196	broad.mit.edu	37	2	159660849	159660849	+	Silent	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:159660849A>G	ENST00000309950.3	+	2	170	c.114A>G	c.(112-114)agA>agG	p.R38R	DAPL1_ENST00000409042.1_Silent_p.R38R	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	38					apoptosis|cell differentiation					prostate(1)	1						CCTTGGAAAGACATACCAAAA	0.378000													3	23					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360958	42360958	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:42360958C>A	ENST00000298119.4	+	4	3080	c.1891C>A	c.(1891-1893)Cct>Act	p.P631T	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	631						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCTTTGCCTCCTTCCTGGAC	0.453000										HNSCC(30;0.082)			4	55					0.014758	0.0149615	1	1	0
IL10	3586	broad.mit.edu	37	1	206944736	206944736	+	Silent	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:206944736A>G	ENST00000423557.1	-	2	248	c.190T>C	c.(190-192)Ttg>Ctg	p.L64L		NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	64					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTTAACAACAAGTtgtccagc	0.488000													9	17					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145160391	145160391	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:145160391A>C	ENST00000367545.3	+	71	10148	c.10148A>C	c.(10147-10149)gAt>gCt	p.D3383A	UTRN_ENST00000367526.4_Missense_Mutation_p.D938A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3383					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTGATCCAGATGCCTCCGGC	0.537000													21	32					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42169508	42169508	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:42169508A>G	ENST00000320955.6	-	18	3744	c.3517T>C	c.(3517-3519)Tgc>Cgc	p.C1173R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1173					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAGTCTGGGCAGTCCAAGGCT	0.632000													7	9					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51465711	51465711	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:51465711C>G	ENST00000522124.1	+	12	1443	c.782C>G	c.(781-783)aCt>aGt	p.T261S	SNTG1_ENST00000276467.5_Missense_Mutation_p.T261S|SNTG1_ENST00000517473.1_Missense_Mutation_p.T261S|SNTG1_ENST00000518864.1_Missense_Mutation_p.T261S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	261					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCAATAGCAACTAACATTTCA	0.413000													9	37					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4164517	4164517	+	Silent	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:4164517G>T	ENST00000078445.2	+	5	741	c.594G>T	c.(592-594)ggG>ggT	p.G198G	CREB3L3_ENST00000602257.1_Silent_p.G196G|CREB3L3_ENST00000252587.3_Silent_p.G138G|CREB3L3_ENST00000595923.1_Silent_p.G197G|CREB3L3_ENST00000602147.1_Silent_p.G198G	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	198					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCACCTGGGGGCCTCCTACC	0.567000													7	99					0.00448238	0.00460776	1	1	0
INADL	10207	broad.mit.edu	37	1	62586969	62586969	+	Splice_Site	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:62586969T>C	ENST00000371158.2	+	38	5119		c.e38+2		INADL_ENST00000472512.1_Splice_Site	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAAATTCAGGTATTACACGGA	0.383000													5	61					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	67					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72371209	72371209	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:72371209A>G	ENST00000001146.2	-	2	541	c.338T>C	c.(337-339)gTg>gCg	p.V113A	CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	113					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTCGGTGCTCACGAGGTGGTG	0.607000													7	132					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:56181765C>T	ENST00000399503.3	+	17	3989	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1330	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343000													27	45					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43240043	43240043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr21:43240043C>T	ENST00000422911.1	-	19	2427	c.2326G>A	c.(2326-2328)Gcc>Acc	p.A776T	PRDM15_ENST00000398548.1_Missense_Mutation_p.A756T|PRDM15_ENST00000447207.2_Missense_Mutation_p.A719T|PRDM15_ENST00000269844.3_Missense_Mutation_p.A1085T|PRDM15_ENST00000538201.1_Missense_Mutation_p.A739T			P57071	PRD15_HUMAN	PR domain containing 15	1085					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGCTCGCAGGCGTGGCTCTTC	0.602000													6	6					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52819072	52819072	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:52819072C>G	ENST00000273283.2	+	12	1444	c.1420C>G	c.(1420-1422)Cag>Gag	p.Q474E	ITIH1_ENST00000540715.1_Missense_Mutation_p.Q332E|ITIH1_ENST00000537050.1_Missense_Mutation_p.Q186E|ITIH1_ENST00000542827.1_Missense_Mutation_p.Q474E	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	474	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTTCTACAGCCAGGTAGCCAA	0.557000													27	83					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31983348	31983348	+	Silent	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:31983348T>C	ENST00000438447.1	+	3	952	c.564T>C	c.(562-564)aaT>aaC	p.N188N	PDZD2_ENST00000282493.3_Silent_p.N188N			O15018	PDZD2_HUMAN	PDZ domain containing 2	188					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCACTTATAATGGCAACAGTA	0.507000													4	70					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816496	6816496	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:6816496C>T	ENST00000332601.3	-	1	632	c.444G>A	c.(442-444)caG>caA	p.Q148Q		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCAGCCATCTGCACACACA	0.512000													7	77					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47514615	47514615	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:47514615A>G	ENST00000273859.3	+	2	327	c.58A>G	c.(58-60)Acc>Gcc	p.T20A	ATP10D_ENST00000504445.1_Missense_Mutation_p.T20A	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	20					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAGAGGTGCAACCAGGGATGA	0.537000													4	31					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	7					0.115264	0.115264	1	1	0
SYT10	341359	broad.mit.edu	37	12	33532801	33532801	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:33532801C>T	ENST00000228567.3	-	6	1762	c.1466G>A	c.(1465-1467)cGa>cAa	p.R489Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R308Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	489						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R489Q(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TATTGGTTTTCGATGATAGGC	0.453000													64	76					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120343820	120343820	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:120343820A>G	ENST00000397843.2	+	31	3183	c.3017A>G	c.(3016-3018)aAt>aGt	p.N1006S	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987S|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1006					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAGTACCCAAATGTTGAAGAG	0.408000			T	MLL	AML								17	245					0	0	1	0	0
TPPP2	122664	broad.mit.edu	37	14	21498757	21498757	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:21498757A>C	ENST00000321760.6	+	2	165	c.17A>C	c.(16-18)gAa>gCa	p.E6A	TPPP2_ENST00000460647.2_Missense_Mutation_p.E6A|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.E6A	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	6						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCAGAGGCAGAAAAAACATTC	0.522000													10	13					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60070036	60070036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:60070036G>A	ENST00000355131.3	+	6	558	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	MS4A4A_ENST00000337908.4_Missense_Mutation_p.R131Q|MS4A4A_ENST00000532114.1_Intron|MS4A4A_ENST00000395016.3_Missense_Mutation_p.R112Q	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	131						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTCTAGGTCCGAGGTAGTCTA	0.398000													61	72					0	0	1	0	0
MIR373	0	broad.mit.edu	37	19	54291978	54291978	+	RNA	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:54291978C>T	ENST00000362273.1	+	0	20					NR_029866.1																						AAAATGGGGGCGCTTTCCTTT	0.522000													6	1					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113819754	113819754	+	Missense_Mutation	SNP	G	G	A	rs77864207	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:113819754G>A	ENST00000393200.2	+	4	330	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	IL36RN_ENST00000346807.3_Missense_Mutation_p.V57I	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	57						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCTGTCCCCCGTCATCCTGGG	0.622000													8	57					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22962444	22962444	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:22962444C>G	ENST00000313077.7	+	20	2289	c.2164C>G	c.(2164-2166)Ctt>Gtt	p.L722V	CYFIP1_ENST00000435939.2_Missense_Mutation_p.L291V|CYFIP1_ENST00000560848.1_Missense_Mutation_p.L722V	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	722					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CACTAGTTTGCTTCTTGATAA	0.428000													6	44					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47422160	47422160	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr21:47422160G>T	ENST00000361866.3	+	32	2209	c.2095G>T	c.(2095-2097)Ggc>Tgc	p.G699C	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	699	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GTGGATGGCGGGCGGCACCTT	0.701000													3	9					0.004672	0.00476933	1	1	0
CNTN1	1272	broad.mit.edu	37	12	41374766	41374766	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:41374766G>A	ENST00000551295.2	+	16	1977	c.1860G>A	c.(1858-1860)gtG>gtA	p.V620V	CNTN1_ENST00000347616.1_Silent_p.V620V|CNTN1_ENST00000348761.2_Silent_p.V609V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	620	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCACTTCTGTGGCACTTACTT	0.433000													63	64					0	0	1	0	0
HOGA1	112817	broad.mit.edu	37	10	99344652	99344652	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:99344652G>A	ENST00000370646.4	+	1	553	c.192G>A	c.(190-192)ctG>ctA	p.L64L	PI4K2A_ENST00000555577.1_Silent_p.L64L|HOGA1_ENST00000370647.4_Silent_p.L64L|PI4K2A_ENST00000370649.3_Silent_p.L64L	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						TGCACAAACTGGGCACCTTCC	0.587000													3	37					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20950023	20950023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:20950023G>A	ENST00000298925.5	+	10	1232	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	NELL1_ENST00000532434.1_Missense_Mutation_p.R332Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R332Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R275Q			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	332	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R332Q(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAGGTCTGCCGACGTAAGTAC	0.488000													21	22					0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726539	25726539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:25726539C>T	ENST00000297012.3	-	1	251	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	73					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTTTTGTTATCGCGAGACGCA	0.537000													52	57					0	0	1	0	0
ATG5	9474	broad.mit.edu	37	6	106727551	106727551	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:106727551T>C	ENST00000369076.3	-	5	786	c.463A>G	c.(463-465)Atg>Gtg	p.M155V	ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Missense_Mutation_p.M77V|ATG5_ENST00000343245.3_Missense_Mutation_p.M155V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	155					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TGCAATCCCATCCAGAGTTGC	0.303000													50	91					0	0	1	0	0
GOLGA6L5	0	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353000													4	9					0.0215528	0.0217004	1	1	0
KIRREL3	84623	broad.mit.edu	37	11	126314950	126314950	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:126314950G>A	ENST00000525144.2	-	10	1425	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	KIRREL3_ENST00000525704.2_Silent_p.D392D|KIRREL3_ENST00000529097.2_Silent_p.D392D	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	392	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		ACTTGCCCGCGTCCTCCTGGC	0.637000													6	86					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618317	175618317	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:175618317G>A	ENST00000348749.5	-	6	769	c.692C>T	c.(691-693)cCc>cTc	p.P231L	CHRNA1_ENST00000409219.1_Missense_Mutation_p.P231L|CHRNA1_ENST00000261007.5_Missense_Mutation_p.P256L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.P149L|CHRNA1_ENST00000409323.1_Missense_Mutation_p.P231L|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	256					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAAGTAGAGGGGCAGGCGCTG	0.582000													9	118					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52646145	52646145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:52646145C>T	ENST00000399231.3	-	26	3733	c.3490G>A	c.(3490-3492)Gag>Aag	p.E1164K	MYO5A_ENST00000553916.1_Missense_Mutation_p.E1164K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E1164K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1164K|MYO5A_ENST00000399233.2_Missense_Mutation_p.E1164K	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1164					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGCTCCAGCTCTGTGACCCGC	0.557000													54	67					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172314562	172314562	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:172314562A>G	ENST00000375255.3	+	7	1036	c.709A>G	c.(709-711)Agc>Ggc	p.S237G	DCAF17_ENST00000539783.1_Missense_Mutation_p.S237G|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	237						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CAGACTCTATAGCTTCCAAAC	0.398000													148	156					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82								p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488000													7	363					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858170	38858170	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:38858170T>C	ENST00000409235.3	+	24	2907	c.2792T>C	c.(2791-2793)aTt>aCt	p.I931T	CATSPERG_ENST00000410018.1_Missense_Mutation_p.I891T|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	931					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TTCTTCTTGATTCAAGATTTG	0.547000													5	860					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	132944910	132944910	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:132944910T>C	ENST00000368642.4	-	7	1133	c.1048A>G	c.(1048-1050)Acg>Gcg	p.T350A		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	350	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCATCGCCCGTCCAGACCACA	0.507000													6	48					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51750674	51750674	+	Silent	SNP	A	A	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:51750674A>T	ENST00000371117.3	-	45	7481	c.7206T>A	c.(7204-7206)ggT>ggA	p.G2402G	PKHD1_ENST00000340994.4_Silent_p.G2402G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2402					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGGGCACCACCTGCACTTT	0.388000													18	27					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38958370	38958370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:38958370G>A	ENST00000355481.4	+	25	3430	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCGAGATGCGCGTGGGCTGG	0.627000													43	106					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129519181	129519181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:129519181G>A	ENST00000276218.2	-	1	330	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	81						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AATGCCATCCGCAGGCTGCAC	0.582000													8	78					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37264410	37264410	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:37264410G>A	ENST00000315392.4	-	5	769	c.558C>T	c.(556-558)taC>taT	p.Y186Y	PLXDC1_ENST00000539608.1_Silent_p.Y113Y|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.Y146Y|PLXDC1_ENST00000394316.2_Silent_p.Y186Y	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	186					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGTTGTCGGAGTAGCCAGGGT	0.522000													77	83					0	0	1	0	0
AKR7L	246181	broad.mit.edu	37	1	19595113	19595113	+	RNA	SNP	T	T	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:19595113T>G	ENST00000420396.2	-	0	589				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCCGAGGTCATGCTGGGAGCG	0.632000													27	41					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370406	86370406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr13:86370406G>T	ENST00000400286.2	-	2	836	c.238C>A	c.(238-240)Cac>Aac	p.H80N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	80						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCATTTGTGTGAAGCATCGTC	0.378000													12	142					5.50884e-06	5.91094e-06	1	1	0
KIAA1456	57604	broad.mit.edu	37	8	12879417	12879417	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:12879417G>A	ENST00000524591.2	+	5	1718	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	410							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCCTTTATGCGCTACTACCAT	0.468000													7	40					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422506	21422506	+	Silent	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:21422506A>G	ENST00000307378.6	-	16	2709	c.1989T>C	c.(1987-1989)gaT>gaC	p.D663D	SLCO1A2_ENST00000458504.1_Silent_p.D531D|SLCO1A2_ENST00000537524.1_Silent_p.D531D|SLCO1A2_ENST00000452078.1_Silent_p.D663D	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	663					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TCAATTCATCATCTTTCAAAA	0.308000													36	64					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30139894	30139894	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:30139894T>C	ENST00000376694.4	+	7	1635	c.1166T>C	c.(1165-1167)gTg>gCg	p.V389A	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	389	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GTCTGGGCCGTGATCATCTCG	0.726000													3	5					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7691251	7691251	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:7691251C>A	ENST00000507866.2	+	11	1636	c.1527C>A	c.(1525-1527)gaC>gaA	p.D509E	SORCS2_ENST00000329016.9_Missense_Mutation_p.D337E	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	509						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTGGGCAGACAACCCCTACG	0.587000													5	6					1.024e-07	1.11502e-07	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													6	111					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267601	66267601	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:66267601A>G	ENST00000327268.4	-	6	864	c.700T>C	c.(700-702)Tca>Cca	p.S234P	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.S234P	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	234						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GAGTCTATTGAGGTTCGTGTT	0.458000													12	210					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470682	10470682	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:10470682A>G	ENST00000382483.3	-	4	1149	c.926T>C	c.(925-927)aTg>aCg	p.M309T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	309					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCTTCTTCATGTCATCGCC	0.652000													8	113					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216292929	216292929	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:216292929T>C	ENST00000354785.4	-	6	1187	c.818A>G	c.(817-819)cAc>cGc	p.H273R	FN1_ENST00000359671.1_Missense_Mutation_p.H273R|FN1_ENST00000357867.4_Missense_Mutation_p.H273R|FN1_ENST00000356005.4_Missense_Mutation_p.H273R|FN1_ENST00000346544.3_Missense_Mutation_p.H273R|FN1_ENST00000345488.5_Missense_Mutation_p.H273R|FN1_ENST00000336916.4_Missense_Mutation_p.H273R|FN1_ENST00000426059.1_Missense_Mutation_p.H273R|FN1_ENST00000323926.6_Missense_Mutation_p.H273R|FN1_ENST00000357009.2_Missense_Mutation_p.H273R|FN1_ENST00000446046.1_Missense_Mutation_p.H273R|FN1_ENST00000443816.1_Missense_Mutation_p.H273R|FN1_ENST00000432072.2_Missense_Mutation_p.H273R|FN1_ENST00000421182.1_Missense_Mutation_p.H273R			P02751	FINC_HUMAN	fibronectin 1	273	Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACAGAGGTGTGCCTCTCACA	0.537000													45	46					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													4	66					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	RNA	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343000													7	58					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39421358	39421358	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:39421358G>A	ENST00000221431.6	-	1	178	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.R7W|SARS2_ENST00000600042.1_Missense_Mutation_p.R7W	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	7					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACAAGCGCCGCGCCATGGAC	0.607000											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	44					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148261	69148261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:69148261G>A	ENST00000306560.1	+	4	910	c.754G>A	c.(754-756)Gac>Aac	p.D252N	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.D252N	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	252					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CAACAAGTACGACTCATGGAT	0.557000													69	75					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39353431	39353431	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:39353431T>C	ENST00000287152.7	-	16	1922	c.1828A>G	c.(1828-1830)Atc>Gtc	p.I610V	KIF6_ENST00000373216.3_Missense_Mutation_p.I610V|KIF6_ENST00000394362.1_Missense_Mutation_p.I61V|KIF6_ENST00000229913.5_Missense_Mutation_p.I61V|KIF6_ENST00000373213.4_Missense_Mutation_p.I449V|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000541946.1_Missense_Mutation_p.I61V|KIF6_ENST00000538893.1_Missense_Mutation_p.I554V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	610					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGCTGGGTGATTTCTTCCTTC	0.463000													36	34					0	0	1	0	0
SAMD1	90378	broad.mit.edu	37	19	14199775	14199775	+	Silent	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:14199775G>C	ENST00000533683.2	-	3	1232	c.945C>G	c.(943-945)acC>acG	p.T315T		NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	421						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		AGTCTGGCCCGGTGGCAACAG	0.612000													5	16					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976553	47976553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:47976553C>T	ENST00000543600.1	-	2	712	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	PTCHD4_ENST00000339488.4_Missense_Mutation_p.V242M			Q6ZW05	CF138_HUMAN	patched domain containing 4	242						integral to membrane	hedgehog receptor activity										AGGATCAGCACGAGGCTCACC	0.562000													11	49					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24975421	24975421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:24975421G>A	ENST00000323848.9	+	4	621	c.306G>A	c.(304-306)atG>atA	p.M102I	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.M102I|SRRM1_ENST00000447431.2_Missense_Mutation_p.M102I|SRRM1_ENST00000537199.1_Start_Codon_SNP_p.M1I	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	102	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAGAATTTATGGGAGAACTGT	0.413000													11	243					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95185843	95185843	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:95185843C>T	ENST00000371501.4	-	5	540	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	MYOF_ENST00000371489.1_Missense_Mutation_p.V140M|MYOF_ENST00000359263.4_Missense_Mutation_p.V140M|MYOF_ENST00000371488.3_Missense_Mutation_p.V140M|MYOF_ENST00000358334.5_Missense_Mutation_p.V140M|MYOF_ENST00000371502.4_Missense_Mutation_p.V140M			Q9NZM1	MYOF_HUMAN	myoferlin	140					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGCCTGGCACGCTGGGCCCG	0.562000													3	1					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													7	98					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134993931	134993931	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:134993931T>G	ENST00000535938.1	+	18	2507	c.2340T>G	c.(2338-2340)gaT>gaG	p.D780E	SAGE1_ENST00000324447.3_Missense_Mutation_p.D780E|SAGE1_ENST00000537770.1_Missense_Mutation_p.D404E|SAGE1_ENST00000370709.3_Missense_Mutation_p.D780E	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	780										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACAAACCTGATAGTAATGAAT	0.428000													27	138					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			9	14					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	663455	663455	+	Silent	SNP	G	G	A	rs116004401	by1000genomes	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:663455G>A	ENST00000301329.6	-	9	940	c.855C>T	c.(853-855)gaC>gaT	p.D285D	GLOD4_ENST00000301328.5_Silent_p.D300D|GLOD4_ENST00000536578.1_Silent_p.D276D	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	300						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CAAACCACTCGTCACTTTTAT	0.438000													9	65					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432528	180432528	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:180432528T>A	ENST00000342868.6	+	8	1241	c.1057T>A	c.(1057-1059)Tgg>Agg	p.W353R		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	353	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AAATGTAGGGTGGTATGTGGG	0.493000													37	88					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82242351	82242351	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr9:82242351C>T	ENST00000376520.4	+	6	1206	c.378C>T	c.(376-378)aaC>aaT	p.N126N	TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376544.3_Silent_p.N126N|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.N126N|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376537.4_Silent_p.N126N			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGAACTGAACGCCATCATTG	0.458000													5	107					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517000													7	699					0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78919187	78919187	+	Silent	SNP	A	A	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:78919187A>C	ENST00000453514.1	+	4	1033	c.340A>C	c.(340-342)Aga>Cga	p.R114R	PAPD4_ENST00000504233.1_Silent_p.R114R|PAPD4_ENST00000428308.2_Silent_p.R114R|PAPD4_ENST00000296783.3_Silent_p.R114R|PAPD4_ENST00000423041.2_Silent_p.R114R	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	114					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AGGTGAACGAAGATACTCAAT	0.398000													5	190					0	0	1	0	0
RRN3P1	0	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													6	83					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23318760	23318760	+	Silent	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:23318760C>G	ENST00000597761.2	+	3	340	c.141C>G	c.(139-141)gtC>gtG	p.V47V	ZNF730_ENST00000593635.1_Silent_p.V15V	NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GTATTGCTGTCTCAAAGCCAG	0.383000													5	102					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640187	94640187	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:94640187C>T	ENST00000260526.6	-	23	3206	c.3024G>A	c.(3022-3024)agG>agA	p.R1008R		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1008					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGGAGTATGCCTCTCCACAT	0.418000													4	151					0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73273487	73273487	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:73273487T>A	ENST00000402418.3	-	5	1630	c.721A>T	c.(721-723)Aag>Tag	p.K241*	SLC25A19_ENST00000416858.2_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000320362.3_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000442286.2_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000580994.1_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000375261.4_Nonsense_Mutation_p.K184*			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	241						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AGCCGCTTCTTGAAGAGGTCC	0.557000													9	92					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389177	57389177	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:57389177G>A	ENST00000300098.1	+	2	403	c.184G>A	c.(184-186)Gcc>Acc	p.A62T		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	62						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CCTCTACCTGGCCATGTTTGT	0.587000													4	126					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74301968	74301968	+	Translation_Start_Site	SNP	T	T	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:74301968T>G	ENST00000395792.2	+	0	89				AFP_ENST00000226359.2_De_novo_Start_OutOfFrame	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein						transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATAACAAAATAACTAGCAAC	0.333000									Alpha-Fetoprotein, Hereditary Persistence of				22	25					0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153297774	153297774	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:153297774G>A	ENST00000303391.6	-	3	510	c.261C>T	c.(259-261)atC>atT	p.I87I	MECP2_ENST00000453960.2_Silent_p.I99I|MECP2_ENST00000407218.1_Silent_p.I87I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	87					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCACGGATGATGGAGCGCC	0.617000													110	3					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7606923	7606923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:7606923C>T	ENST00000221249.6	+	13	1536	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	PNPLA6_ENST00000414982.3_Missense_Mutation_p.R417C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R369C|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R369C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R408C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	408					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTGCTGAGCCGCTGCGTCTC	0.642000													28	35					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121303779	121303779	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:121303779A>G	ENST00000334384.3	+	3	246	c.236A>G	c.(235-237)cAt>cGt	p.H79R		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	79						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CGGAGAAGGCATAAAGAACGT	0.418000													134	123					0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15905421	15905421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:15905421C>T	ENST00000375826.3	-	4	795	c.653G>A	c.(652-654)cGt>cAt	p.R218H	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	218					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACCACACGCTTACAGTC	0.627000													28	20					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702219	43702219	+	Silent	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:43702219T>C	ENST00000405312.3	-	3	876	c.639A>G	c.(637-639)ggA>ggG	p.G213G	PSG4_ENST00000244295.9_Silent_p.G213G|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	213	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATTCATAGGGTCCTGCAATAT	0.507000													14	131					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52940182	52940182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:52940182G>A	ENST00000394752.3	-	20	2789	c.2407C>T	c.(2407-2409)Cgg>Tgg	p.R803W	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	803	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGAACCGCACAACGTCT	0.418000													4	104					0	0	1	0	0
FABP3	2170	broad.mit.edu	37	1	31842368	31842368	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:31842368G>C	ENST00000373713.2	-	2	171	c.110C>G	c.(109-111)aCc>aGc	p.T37S	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	37					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		GGTAGGCTTGGTCATGCTGGC	0.493000													22	85					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93043731	93043731	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:93043731C>T	ENST00000216487.7	+	3	435	c.276C>T	c.(274-276)agC>agT	p.S92S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	92	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGGACAGCAGCTCGAAGCAGC	0.512000													143	122					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143708579	143708579	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:143708579G>C	ENST00000315691.3	+	3	1724	c.1189G>C	c.(1189-1191)Gcc>Ccc	p.A397P	C3orf58_ENST00000495414.1_Missense_Mutation_p.A188P|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.A159P	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	397						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGCTCGAGGCCTTGCTGGA	0.507000													29	43					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145138841	145138841	+	Splice_Site	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:145138841G>C	ENST00000355091.4	+	5	635		c.e5-1		GPAA1_ENST00000361036.6_Splice_Site|GPAA1_ENST00000527144.1_Splice_Site	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1						attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGCCTCCAGGGCAGATTTA	0.577000													5	88					0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	156184747	156184747	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:156184747G>C	ENST00000447401.1	+	8	1250	c.731G>C	c.(730-732)aGc>aCc	p.S244T	SGCD_ENST00000517913.1_Missense_Mutation_p.S244T|SGCD_ENST00000435422.3_Intron|SGCD_ENST00000337851.4_Intron	NM_172244.2	NP_758447.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	0					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTTCAAAGAGCTACAGCTTC	0.478000													4	4					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52646154	52646154	+	Silent	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:52646154G>T	ENST00000399231.3	-	26	3724	c.3481C>A	c.(3481-3483)Cgg>Agg	p.R1161R	MYO5A_ENST00000553916.1_Silent_p.R1161R|MYO5A_ENST00000358212.6_Silent_p.R1161R|MYO5A_ENST00000356338.6_Silent_p.R1161R|MYO5A_ENST00000399233.2_Silent_p.R1161R	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1161					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTGTGACCCGCTTCTGGAGC	0.552000													52	61					4.88482e-21	5.48144e-21	1	1	0
HNF1A	6927	broad.mit.edu	37	12	121434170	121434170	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:121434170C>T	ENST00000257555.6	+	5	1287	c.1061C>T	c.(1060-1062)aCg>aTg	p.T354M	HNF1A_ENST00000402929.1_Missense_Mutation_p.T354M|HNF1A_ENST00000544413.1_Missense_Mutation_p.T354M|HNF1A_ENST00000543427.1_Missense_Mutation_p.T237M|HNF1A_ENST00000400024.2_Missense_Mutation_p.T354M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T354M|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	354					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGTCCCCCACGGGCCTGGAG	0.587000									Hepatic Adenoma, Familial Clustering of				6	85					0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17000886	17000886	+	Silent	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:17000886G>T	ENST00000248076.3	+	2	942	c.612G>T	c.(610-612)gcG>gcT	p.A204A	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	204					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCTCATGGCGGCCGCCCTGG	0.736000													3	49					0.00024832	0.000258887	1	1	0
MCM10	55388	broad.mit.edu	37	10	13234303	13234303	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:13234303T>C	ENST00000378694.1	+	11	1640	c.1565T>C	c.(1564-1566)aTg>aCg	p.M522T	MCM10_ENST00000378714.3_Missense_Mutation_p.M522T|MCM10_ENST00000484800.2_Missense_Mutation_p.M523T			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	523					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGGAACTGATGGACCTGCCG	0.512000													15	50					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146030116	146030116	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:146030116T>C	ENST00000394413.3	-	5	1189	c.619A>G	c.(619-621)Agt>Ggt	p.S207G	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S207G|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S207G|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S207G|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S265G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S196G|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S210G|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S213G|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S196G|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S273G			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	207					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATACTAAAACTTTGATTGGTT	0.388000													4	65					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515774	51515774	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:51515774C>A	ENST00000328188.1	+	1	493	c.493C>A	c.(493-495)Cct>Act	p.P165T		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTCCAATTACCTTTCTGTGG	0.468000													52	48					1.81118e-26	2.04803e-26	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22154579	22154579	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:22154579C>A	ENST00000374695.3	-	90	12555	c.12476G>T	c.(12475-12477)tGc>tTc	p.C4159F	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4159	EGF-like 4.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGTGCCCTGGCAGGTGCCCCC	0.662000													16	13					8.60227e-14	9.5798e-14	1	1	0
SLC16A6	9120	broad.mit.edu	37	17	66267428	66267428	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:66267428C>T	ENST00000327268.4	-	6	1037	c.873G>A	c.(871-873)gaG>gaA	p.E291E	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.E291E	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	291						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TAAAACTTTTCTCTTTCAAAA	0.468000													4	63					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64235836	64235836	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr18:64235836G>T	ENST00000262150.2	-	3	599	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	CDH19_ENST00000540086.1_Missense_Mutation_p.Q103K	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	103	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCAAGCTTCTGTATGGCATAT	0.428000													22	104					2.89027e-11	3.17067e-11	1	1	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													3	61					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39847246	39847246	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:39847246G>C	ENST00000502986.2	+	8	837	c.595G>C	c.(595-597)Gtt>Ctt	p.V199L	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.V186L|RP11-44K6.3_ENST00000517623.1_RNA	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	186					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTAGGCTCTTGTTCAGGCCAC	0.522000													7	2					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68825108	68825108	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:68825108G>A	ENST00000294309.3	+	5	593	c.492G>A	c.(490-492)gtG>gtA	p.V164V	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.V164V	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	164					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCTCGTGGTGCTGGTGGTGT	0.597000													8	75					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176940755	176940755	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:176940755C>T	ENST00000507955.1	-	10	1552	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	343	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CAGCCTCGTCCAGGGCCAGGT	0.627000													4	67					0	0	1	0	0
TRIM6	117854	broad.mit.edu	37	11	5632107	5632107	+	Silent	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:5632107C>G	ENST00000380097.3	+	8	1328	c.1086C>G	c.(1084-1086)tcC>tcG	p.S362S	TRIM6_ENST00000507320.1_Silent_p.S159S|TRIM6_ENST00000515022.1_Silent_p.S159S|TRIM6_ENST00000380107.1_Silent_p.S308S|TRIM6_ENST00000278302.5_Silent_p.S334S|TRIM6_ENST00000481603.1_3'UTR|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000506134.1_Silent_p.S159S|TRIM6_ENST00000445329.1_Silent_p.S159S	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGACCTTCCTGTCTGGAAA	0.483000													8	30					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926291	112926291	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:112926291T>G	ENST00000351677.2	+	12	1622	c.1424T>G	c.(1423-1425)cTt>cGt	p.L475R		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	479	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATTGATATTCTTATTGACATC	0.458000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				8	89					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168845848	168845848	+	Splice_Site	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:168845848T>C	ENST00000464456.1	-	4	1250	c.49_splice	c.e4-1	p.E17_splice	MECOM_ENST00000472280.1_Splice_Site_p.E17_splice|MECOM_ENST00000468789.1_Splice_Site_p.E17_splice|MECOM_ENST00000264674.3_Splice_Site_p.E81_splice|MECOM_ENST00000392736.3_Splice_Site_p.E17_splice|MECOM_ENST00000433243.2_Splice_Site_p.E17_splice|MECOM_ENST00000460814.1_Splice_Site_p.E17_splice|MECOM_ENST00000494292.1_Splice_Site_p.E205_splice	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGCCGTTCTTCTGTGAAAAC	0.418000													6	102					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													7	367					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672243	30672243	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:30672243G>C	ENST00000376406.3	-	10	5364	c.4717C>G	c.(4717-4719)Cct>Gct	p.P1573A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1309A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1573	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGGGCTATAGGGACAATTGAT	0.567000								Other conserved DNA damage response genes					15	249					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4722916	4722916	+	Silent	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:4722916A>G	ENST00000540757.2	+	13	1720	c.1560A>G	c.(1558-1560)gtA>gtG	p.V520V	DYRK4_ENST00000543431.1_Silent_p.V519V|DYRK4_ENST00000545342.1_Silent_p.V157V|DYRK4_ENST00000010132.5_Silent_p.V520V	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	520						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CCCCTATTGTATGACCTTTGC	0.443000													43	41					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85645702	85645702	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:85645702A>G	ENST00000322366.6	-	45	7674	c.7267T>C	c.(7267-7269)Tac>Cac	p.Y2423H	WDFY3_ENST00000295888.4_Missense_Mutation_p.Y2440H			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2440						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGCATGTAGTACTCTTTACTG	0.448000													4	104					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71020123	71020123	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:71020123T>C	ENST00000344526.5	+	1	220	c.31T>C	c.(31-33)Tgt>Cgt	p.C11R	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.C11R	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	11						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGCATTGTATGTGTTGCTTT	0.294000													30	41					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr13:51825705G>A	ENST00000322475.8	+	3	337	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	FAM124A_ENST00000280057.6_Missense_Mutation_p.V104I	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682000													19	17					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579224	55579224	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:55579224C>A	ENST00000333973.2	+	1	371	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCATCTCCTTCCTAGGGTGCA	0.458000													13	231					4.3838e-07	4.73837e-07	1	1	0
PENK	5179	broad.mit.edu	37	8	57353928	57353928	+	Missense_Mutation	SNP	C	C	T	rs148671012		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:57353928C>T	ENST00000314922.3	-	2	783	c.707G>A	c.(706-708)cGc>cAc	p.R236H	PENK_ENST00000451791.2_Missense_Mutation_p.R236H	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	236					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTCGGCAAAGCGCTTCAGGAA	0.483000													65	21					0	0	1	0	0
CST9	128822	broad.mit.edu	37	20	23584363	23584363	+	Silent	SNP	A	A	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr20:23584363A>T	ENST00000376971.3	-	2	275	c.264T>A	c.(262-264)ggT>ggA	p.G88G		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	88						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					ACACCATCTTACCTCGCCACT	0.468000													5	122					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43311050	43311050	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr18:43311050C>A	ENST00000321925.4	+	4	454	c.222C>A	c.(220-222)aaC>aaA	p.N74K	SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.N130K|SLC14A1_ENST00000586142.1_Missense_Mutation_p.N74K|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000436407.3_Missense_Mutation_p.N130K|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000589700.1_Missense_Mutation_p.N74K|SLC14A1_ENST00000402943.2_5'UTR	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	74			N -> K (in Jk(null)).			integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCGTCAACAACCCCGTCAGTG	0.547000													7	86					0.000157383	0.000166441	1	1	0
HRNR	388697	broad.mit.edu	37	1	152191275	152191275	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:152191275delA	ENST00000368801.2	-	3	2905	c.2830delT	c.(2830-2832)acfs	p.Y944fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	944					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGAGTGTAACCAGAGGAC	0.567													22	634	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152276084	152276091	+	Frame_Shift_Del	DEL	CACGAATG	CACGAATG	-			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:152276084_152276091delCACGAATG	ENST00000368799.1	-	3	11306_11313	c.11271_11278delCATTCGTG	c.(11269-11280)acgafs	p.TIRG3757fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3757	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)			CCCGGGTGTCCACGAATGGTGTCCTGAC	0.606									Ichthyosis				22	802	---	---	---	---					
AC022007.5	0	broad.mit.edu	37	3	10049093	10049094	+	RNA	INS	-	-	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:10049093_10049094insG	ENST00000383808.2	-	0	904_905																											GGGTCAGTGGCGGGGTGTGGTC	0.589													7	136	---	---	---	---					
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917	by1000genomes	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(640-645)gcggaafs	p.E215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653													2	4	---	---	---	---					
CCDC96	257236	broad.mit.edu	37	4	7044507	7044509	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:7044507_7044509delCTC	ENST00000310085.4	-	1	219_221	c.157_159delGAG	c.(157-159)del	p.E53del	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	53	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAGCCGCTTGCTCCTCCTCCTCC	0.729													2	4	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													3	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													3	4	---	---	---	---					
NR4A1	0	broad.mit.edu	37	12	52451162	52451164	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:52451162_52451164delTCT	ENST00000545748.1	+	7	2545_2547	c.1550_1552delTCT	c.(1549-1554)atc>a	p.IF517del	NR4A1_ENST00000550082.1_In_Frame_Del_p.IF476del|NR4A1_ENST00000394825.1_In_Frame_Del_p.IF463del|NR4A1_ENST00000394824.2_In_Frame_Del_p.IF463del|NR4A1_ENST00000243050.1_In_Frame_Del_p.IF463del|NR4A1_ENST00000360284.3_In_Frame_Del_p.IF476del			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	463					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)		GGCAAGCTCATCTTCTGCTCAGG	0.611													32	29	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	DEL	C	C	-	rs68140816		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7579311delC	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			26	52	---	---	---	---					
AC005562.1	0	broad.mit.edu	37	17	28960992	28960993	+	RNA	INS	-	-	TTTTTC	rs10561703		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:28960992_28960993insTTTTTC	ENST00000417404.1	+	0	1269				LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA																							ttcttttttctttttttttttt	0.302													12	21	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76889091	76889091	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:76889091delT	ENST00000373344.5	-	18	5133	c.4919delA	c.(4918-4920)agfs	p.K1640fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1602fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1640	Helicase ATP-binding.				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	p.?(1)		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)	CTCTTGCCACTTCTCAAATTC	0.318			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						53	5	---	---	---	---					
