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
CTAGE5	4253	broad.mit.edu	37	14	39769088	39769088	+	Silent	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:39769088A>T	ENST00000553728.1	+	13	2511	c.2298A>T	c.(2296-2298)gtA>gtT	p.V766V	CTAGE5_ENST00000280083.3_Silent_p.V231V|RP11-407N17.3_ENST00000603904.1_Silent_p.V202V|CTAGE5_ENST00000348007.3_Silent_p.V231V|CTAGE5_ENST00000553352.1_Silent_p.V202V|CTAGE5_ENST00000396158.2_Silent_p.V236V|CTAGE5_ENST00000396165.4_Silent_p.V202V|CTAGE5_ENST00000556148.1_Silent_p.V156V|CTAGE5_ENST00000341749.3_Silent_p.V219V|CTAGE5_ENST00000341502.5_Silent_p.V231V|CTAGE5_ENST00000557038.1_Silent_p.V151V																							AAGCTGAAGTATGGAAAGAAC	0.318000													8	75					0	0	0.000274275	0	0
FMO1	2326	broad.mit.edu	37	1	171247913	171247913	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:171247913A>G	ENST00000354841.4	+	4	661	c.530A>G	c.(529-531)aAg>aGg	p.K177R	FMO1_ENST00000367750.3_Missense_Mutation_p.K177R|FMO1_ENST00000402921.2_Missense_Mutation_p.K114R|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	177					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CGGCAATATAAGCATCCAGAT	0.408000													3	87					0	0	0.00024832	0	0
DPP3	10072	broad.mit.edu	37	11	66262860	66262860	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:66262860G>C	ENST00000532677.1	+	14	1935	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	DPP3_ENST00000541961.1_Missense_Mutation_p.E493Q|DPP3_ENST00000531863.1_Missense_Mutation_p.E513Q|DPP3_ENST00000453114.1_Missense_Mutation_p.E493Q|DPP3_ENST00000530165.1_Missense_Mutation_p.E463Q|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.E493Q	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	493					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGGAGCGGGGAGACCTGGGA	0.622000													4	27					0	0	0.00024832	0	0
CEACAM20	125931	broad.mit.edu	37	19	45016078	45016078	+	RNA	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:45016078T>A	ENST00000454753.1	-	0	1851							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CACTCACCAGTTCGACTCTGA	0.488000													3	10					0	0	6.4e-05	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16875383	16875383	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:16875383C>A	ENST00000437538.2	-	1	15	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.G3C|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G3C|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.G3C			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	3					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CGGCCCAGGCCACTCATTACT	0.582000									IgA Deficiency, Selective				13	43					9.31168e-06	3.8136e-05	0.00185496	1	0
CSMD3	114788	broad.mit.edu	37	8	113267646	113267646	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:113267646A>T	ENST00000297405.5	-	62	10117	c.9873T>A	c.(9871-9873)tgT>tgA	p.C3291*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C3251*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C3122*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C3221*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3291	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGGTCACCACAAAACTTTG	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	52					0	0	0.000978159	0	0
ACTN3	89	broad.mit.edu	37	11	66326764	66326764	+	RNA	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:66326764G>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CAGGAGGTGCGGGCGTTGCTG	0.667000													9	44					1.76689e-08	7.53255e-08	0.000442599	1	0
HLA-DOA	3111	broad.mit.edu	37	6	32975992	32975992	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:32975992G>A	ENST00000229829.5	-	2	204	c.129C>T	c.(127-129)ggC>ggT	p.G43G	HLA-DOA_ENST00000450833.2_Silent_p.G13G	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	43	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCCGAGGCGCCGTAAGACT	0.537000													14	47					0	0	0.00316338	0	0
DSEL	92126	broad.mit.edu	37	18	65180979	65180979	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr18:65180979C>G	ENST00000310045.7	-	2	2370	c.897G>C	c.(895-897)caG>caC	p.Q299H	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	289						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAAAAACATACTGTGTGACGG	0.388000													14	69					0	0	0.00400662	0	0
SEMA3B	7869	broad.mit.edu	37	3	50313227	50313227	+	RNA	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:50313227G>A	ENST00000418948.1	+	0	2031							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGCTGCAGGCGCGCGTGGAGT	0.692000													13	19					0	0	0.00185496	0	0
TBC1D5	9779	broad.mit.edu	37	3	17418038	17418038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:17418038G>C	ENST00000253692.7	-	10	2344	c.680C>G	c.(679-681)gCc>gGc	p.A227G	TBC1D5_ENST00000429924.2_Missense_Mutation_p.A179G|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A227G|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.A227G	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	227	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGACTCACTGGCATGTAGAAA	0.403000													19	36					0	0	0.00188189	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416529	57416529	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:57416529T>A	ENST00000565912.1	+	2	3371	c.665T>A	c.(664-666)cTg>cAg	p.L222Q	CX3CL1_ENST00000006053.6_Missense_Mutation_p.L260Q|CX3CL1_ENST00000563383.1_Missense_Mutation_p.L266Q			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	260	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGAACTCTCTGGAGCGGGAG	0.667000													22	44					0	0	0.00188189	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204403072	204403072	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:204403072C>T	ENST00000367187.3	-	26	4248	c.3692G>A	c.(3691-3693)cGt>cAt	p.R1231H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1203H|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1231	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAAGGGGGCACGGTCCCTGAG	0.557000													8	62					0	0	0.00307968	0	0
WRN	7486	broad.mit.edu	37	8	30977842	30977842	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:30977842C>A	ENST00000298139.5	+	21	2781	c.2532C>A	c.(2530-2532)gaC>gaA	p.D844E		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	844	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTCCTAAGGACATGGAATCAT	0.423000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				31	72					8.16721e-17	3.63042e-16	0.00209593	1	0
DNAH7	56171	broad.mit.edu	37	2	196718132	196718132	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:196718132C>A	ENST00000312428.6	-	46	8816	c.8716G>T	c.(8716-8718)Ggg>Tgg	p.G2906W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2906					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGATATCCCCAGTCAAGTTG	0.507000													22	23					1.28384e-07	5.31772e-07	0.00188189	1	0
NPC1L1	29881	broad.mit.edu	37	7	44579405	44579405	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:44579405G>A	ENST00000289547.4	-	2	646	c.591C>T	c.(589-591)tgC>tgT	p.C197C	NPC1L1_ENST00000546276.1_Silent_p.C197C|NPC1L1_ENST00000423141.1_Silent_p.C197C|NPC1L1_ENST00000381160.3_Silent_p.C197C	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	197					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGGGCATTGCAAAGGGCAG	0.637000													25	66					0	0	0.00332997	0	0
ZNF45	7596	broad.mit.edu	37	19	44418581	44418581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:44418581G>A	ENST00000269973.5	-	10	2097	c.1007C>T	c.(1006-1008)gCa>gTa	p.A336V	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.A336V	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	336					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTTGCCACATGCATTGCATTT	0.458000													22	48					0	0	0.00188189	0	0
NUP210L	91181	broad.mit.edu	37	1	154029336	154029336	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:154029336C>T	ENST00000368559.3	-	23	3266	c.3195G>A	c.(3193-3195)aaG>aaA	p.K1065K	NUP210L_ENST00000271854.3_Silent_p.K1065K|NUP210L_ENST00000368553.1_5'UTR	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1065						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCATCTTGTCCTTGGCAATAG	0.388000													6	66					0	0	0.00116845	0	0
FBN3	84467	broad.mit.edu	37	19	8188397	8188397	+	Silent	SNP	G	G	A	rs145240162	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:8188397G>A	ENST00000600128.1	-	24	3447	c.3033C>T	c.(3031-3033)tgC>tgT	p.C1011C	FBN3_ENST00000601739.1_Silent_p.C1011C|FBN3_ENST00000270509.2_Silent_p.C1011C			Q75N90	FBN3_HUMAN	fibrillin 3	1011	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCGCACAGGCGCAGTGGAAGC	0.597000													16	26					0	0	0.00316338	0	0
KNOP1	400506	broad.mit.edu	37	16	19718478	19718478	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:19718478G>C	ENST00000219837.7	-	5	1209	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	KNOP1_ENST00000568230.1_Silent_p.L56L|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		CCATAAGTCTGAGAAATTTCA	0.532000													25	61					0	0	0.00332997	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20876088	20876088	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:20876088C>A	ENST00000381552.1	+	9	1454	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S244R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S313R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S362R|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S362R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	362					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TATGTACAAGCACTGTTCAGT	0.378000													28	71					4.87955e-14	2.13006e-13	0.000878237	1	0
TECPR2	9895	broad.mit.edu	37	14	102931608	102931608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:102931608G>C	ENST00000359520.7	+	17	3997	c.3771G>C	c.(3769-3771)atG>atC	p.M1257I	TECPR2_ENST00000558678.1_Missense_Mutation_p.M1257I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1257							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCTGGATAATGATTGAGCCAC	0.502000													13	45					0	0	0.00136819	0	0
ZNF45	7596	broad.mit.edu	37	19	44418582	44418582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:44418582C>T	ENST00000269973.5	-	10	2096	c.1006G>A	c.(1006-1008)Gca>Aca	p.A336T	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.A336T	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	336					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTGCCACATGCATTGCATTTG	0.453000													21	47					0	0	0.00152264	0	0
OSBP2	23762	broad.mit.edu	37	22	31302140	31302140	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:31302140C>A	ENST00000382310.3	+	12	2581	c.2545C>A	c.(2545-2547)Cag>Aag	p.Q849K	OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Intron|OSBP2_ENST00000401475.1_Intron|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000437268.2_Intron|OSBP2_ENST00000332585.6_Intron|OSBP2_ENST00000535268.1_Intron			Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	0					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TCCGGGGGAGCAGGCCACAAG	0.697000													16	27					6.31663e-08	2.63133e-07	0.00316338	1	0
BLNK	29760	broad.mit.edu	37	10	97976475	97976475	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr10:97976475G>T	ENST00000224337.5	-	7	682	c.541C>A	c.(541-543)Ccc>Acc	p.P181T	BLNK_ENST00000371176.2_Missense_Mutation_p.P181T|BLNK_ENST00000413476.2_Missense_Mutation_p.P181T|BLNK_ENST00000427367.2_Missense_Mutation_p.P181T	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	181	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCTTCCACGGGGACCACATAA	0.378000													8	27					0.000157383	0.000637402	0.00307968	1	0
ACOT9	23597	broad.mit.edu	37	X	23724804	23724804	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:23724804G>A	ENST00000379303.5	-	11	911	c.783C>T	c.(781-783)gcC>gcT	p.A261A	ACOT9_ENST00000379295.1_Silent_p.A192A|ACOT9_ENST00000336430.7_Silent_p.A252A	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	252					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CAGCGCTGGGGGCCATTTTCA	0.488000													16	44					0	0	0.000566183	0	0
BAHCC1	57597	broad.mit.edu	37	17	79410355	79410355	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:79410355C>T	ENST00000307745.7	+	9	1980	c.1980C>T	c.(1978-1980)gcC>gcT	p.A660A																								GCCTCAAGGCCAGCTGCATCC	0.642000													6	14					0	0	0.00116845	0	0
SLC52A3	113278	broad.mit.edu	37	20	745904	745904	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:745904A>G	ENST00000381944.3	-	2	756	c.515T>C	c.(514-516)aTa>aCa	p.I172T	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.I172T			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	172					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GCTGTCTGATATCTCAGTGAC	0.577000													15	73					0	0	0.00316338	0	0
KIRREL	55243	broad.mit.edu	37	1	158046036	158046036	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:158046036G>C	ENST00000368173.3	+	2	590	c.186G>C	c.(184-186)atG>atC	p.M62I	KIRREL_ENST00000392272.2_Missense_Mutation_p.M62I|KIRREL_ENST00000360089.4_Start_Codon_SNP_p.M1I|KIRREL_ENST00000359209.6_Missense_Mutation_p.M62I|KIRREL_ENST00000416935.2_Intron	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	62	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCTGGGCATGGGCCAGGGCC	0.602000													40	98					0	0	0.00222228	0	0
APOBR	55911	broad.mit.edu	37	16	28508717	28508717	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:28508717G>C	ENST00000564831.1	+	2	2388	c.2355G>C	c.(2353-2355)gtG>gtC	p.V785V	APOBR_ENST00000431282.1_Silent_p.V776V|APOBR_ENST00000328423.5_Silent_p.V776V	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	776	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TGGAAGGGGTGCTTGGGCAAG	0.587000													11	24					0	0	0.000978159	0	0
SCN9A	6335	broad.mit.edu	37	2	167060716	167060716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:167060716A>G	ENST00000375387.4	-	26	4866	c.4526T>C	c.(4525-4527)aTa>aCa	p.I1509T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1497T|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1508T|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1509T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1508						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAGGTCAAATATACATCCTTG	0.318000													17	24					0	0	0.00400662	0	0
SLC44A2	57153	broad.mit.edu	37	19	10753954	10753954	+	Splice_Site	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:10753954G>A	ENST00000335757.5	+	22	2390		c.e22-1		SLC44A2_ENST00000407327.4_Splice_Site|SLC44A2_ENST00000586078.1_3'UTR			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2						positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTCTCCACAGTGGAGGACCT	0.592000													7	6					0	0	0.00307968	0	0
USP21	27005	broad.mit.edu	37	1	161130531	161130531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:161130531G>A	ENST00000368002.3	+	3	478	c.101G>A	c.(100-102)cGc>cAc	p.R34H	USP21_ENST00000289865.8_Missense_Mutation_p.R34H|USP21_ENST00000368001.1_Missense_Mutation_p.R34H	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	34					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCAGGGCCCGCAGCAAGGAG	0.632000													43	88					0	0	0.00285205	0	0
LRP1	4035	broad.mit.edu	37	12	57592066	57592066	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:57592066C>T	ENST00000243077.3	+	59	9876	c.9410C>T	c.(9409-9411)aCg>aTg	p.T3137M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3137					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTATCGGACGGTGCTGGTC	0.637000													11	32					0	0	0.00185496	0	0
TRPS1	7227	broad.mit.edu	37	8	116631670	116631670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:116631670C>T	ENST00000395715.3	-	3	1232	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	TRPS1_ENST00000520276.1_Missense_Mutation_p.V210M|TRPS1_ENST00000220888.5_Missense_Mutation_p.V206M|TRPS1_ENST00000519674.1_Missense_Mutation_p.V206M|TRPS1_ENST00000519076.1_Missense_Mutation_p.V160M	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	206					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTGTCATTCACCAGTAAGTCA	0.468000									Langer-Giedion syndrome				29	121					0	0	0.0024448	0	0
RGL4	266747	broad.mit.edu	37	22	24034239	24034239	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:24034239C>G	ENST00000290691.5	+	1	1192	c.22C>G	c.(22-24)Ctg>Gtg	p.L8V	GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Intron	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	8					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GCTCACAAATCTGCCTGCAGC	0.612000													23	31					0	0	0.00278032	0	0
PRSS55	203074	broad.mit.edu	37	8	10388887	10388887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:10388887C>T	ENST00000328655.3	+	3	470	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.L144F	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	144	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAGCATCATTCTTCACAAAGA	0.517000													34	155					0	0	0.00327116	0	0
TRBJ2-5	28624	broad.mit.edu	37	7	142494819	142494819	+	RNA	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:142494819C>G	ENST00000390417.1	+	0	17																											AGACCCAGTACTTCGGGCCAG	0.726000													9	11					0	0	0.000442599	0	0
SCN8A	6334	broad.mit.edu	37	12	52200796	52200796	+	Silent	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:52200796C>A	ENST00000354534.5	+	27	5704	c.5526C>A	c.(5524-5526)atC>atA	p.I1842I	SCN8A_ENST00000545061.1_Silent_p.I1801I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1842					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGATCGCATCCACTGCTTGG	0.567000													43	110					7.63091e-17	3.41284e-16	0.00170553	1	0
ZNF616	90317	broad.mit.edu	37	19	52618924	52618924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:52618924C>T	ENST00000600228.1	-	4	1754	c.1493G>A	c.(1492-1494)tGt>tAt	p.C498Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GACCTTGCCACATTCATTGCA	0.403000													13	97					0	0	0.00185496	0	0
NAA25	80018	broad.mit.edu	37	12	112518864	112518864	+	Splice_Site	SNP	T	T	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:112518864T>G	ENST00000261745.4	-	5	725	c.477_splice	c.e5+1	p.Q159_splice		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	159						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCATACTCACTTGCATAATTA	0.343000													35	157					0	0	0.00375469	0	0
DLG1	1739	broad.mit.edu	37	3	197009585	197009585	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:197009585C>G	ENST00000346964.2	-	4	472	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	DLG1_ENST00000448528.2_Missense_Mutation_p.E95Q|DLG1_ENST00000357674.4_Missense_Mutation_p.E95Q|DLG1_ENST00000419354.1_Missense_Mutation_p.E95Q|DLG1_ENST00000450955.1_Missense_Mutation_p.E95Q|DLG1_ENST00000422288.1_Missense_Mutation_p.E95Q|DLG1_ENST00000392382.2_Missense_Mutation_p.E95Q|DLG1_ENST00000314062.3_Missense_Mutation_p.E95Q|DLG1_ENST00000485409.1_5'UTR	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	95					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GGCAGTGTCTCTGAAGTCACA	0.398000													14	150					0	0	0.00400662	0	0
UBC	7316	broad.mit.edu	37	12	125397805	125397805	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:125397805G>C	ENST00000536769.1	-	1	2089	c.513C>G	c.(511-513)ccC>ccG	p.P171P	UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.P171P			P0CG48	UBC_HUMAN	ubiquitin C	171	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGGTGTCACTGGGCTCCACCT	0.517000													4	84					0	0	0.000442599	0	0
COL11A1	1301	broad.mit.edu	37	1	103480090	103480090	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:103480090G>C	ENST00000358392.2	-	13	1902	c.1585C>G	c.(1585-1587)Caa>Gaa	p.Q529E	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q401E|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q478E|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q517E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	517	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGAATAGCTTGAGCCTGAGCT	0.418000													8	31					0	0	0.000274275	0	0
TADA2B	93624	broad.mit.edu	37	4	7056447	7056447	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:7056447C>T	ENST00000310074.7	+	2	1118	c.929C>T	c.(928-930)gCa>gTa	p.A310V	TADA2B_ENST00000515646.1_Missense_Mutation_p.A218V|TADA2B_ENST00000512388.1_Missense_Mutation_p.A235V	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGTACGAGGCAGCGCGGCAT	0.557000													28	36					0	0	0.000720815	0	0
NIPBL	25836	broad.mit.edu	37	5	37057315	37057315	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:37057315A>G	ENST00000282516.8	+	43	7790	c.7291A>G	c.(7291-7293)Ata>Gta	p.I2431V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I2431V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2431					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCTCTTGTATATAGCAGACAA	0.358000													13	49					0	0	0.00244969	0	0
HIC2	23119	broad.mit.edu	37	22	21800083	21800083	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:21800083G>T	ENST00000443632.2	+	2	1271	c.899G>T	c.(898-900)gGc>gTc	p.G300V	HIC2_ENST00000407598.2_Missense_Mutation_p.G300V|HIC2_ENST00000407464.2_Missense_Mutation_p.G300V			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	300					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAGCTGGGGGGCACCCCTGAT	0.677000													15	41					8.60227e-14	3.73277e-13	0.00400662	1	0
RPF1	80135	broad.mit.edu	37	1	84946675	84946675	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:84946675A>G	ENST00000370654.5	+	2	280	c.265A>G	c.(265-267)Aga>Gga	p.R89G	RPF1_ENST00000370656.1_Missense_Mutation_p.R89G	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	89					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	p.E90fs*5(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TAAAAAAGAAAGAGAGGCTCT	0.303000													29	35					0	0	0.00178596	0	0
FCHSD1	89848	broad.mit.edu	37	5	141026991	141026991	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:141026991G>A	ENST00000435817.2	-	9	852	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	FCHSD1_ENST00000522126.1_Missense_Mutation_p.H192Y|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.H266Y	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	268									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCGCGGTGGGCATGCTCC	0.622000													9	10					0	0	0.000274275	0	0
HERC1	8925	broad.mit.edu	37	15	63904544	63904544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr15:63904544C>T	ENST00000443617.2	-	77	14393	c.14306G>A	c.(14305-14307)cGg>cAg	p.R4769Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4769	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAAAAGCACCCGCTCCTCATT	0.493000													6	44					0	0	0.00116845	0	0
TRIO	7204	broad.mit.edu	37	5	14387624	14387624	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:14387624G>A	ENST00000344204.4	+	22	3672	c.3648G>A	c.(3646-3648)gaG>gaA	p.E1216E	TRIO_ENST00000537187.1_Silent_p.E1216E|TRIO_ENST00000509967.2_Silent_p.E1167E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1216					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATGCGGCAGAGATAAAAAAAT	0.438000													5	137					0	0	0.000602214	0	0
COL22A1	169044	broad.mit.edu	37	8	139642988	139642988	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:139642988C>A	ENST00000303045.6	-	50	4059	c.3613G>T	c.(3613-3615)Gca>Tca	p.A1205S	COL22A1_ENST00000435777.1_Missense_Mutation_p.A1185S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1205	Collagen-like 11.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATTCCATCTGCCCCCTAAAAA	0.443000										HNSCC(7;0.00092)			35	109					4.90274e-10	2.10241e-09	0.00128727	1	0
SIAH1	6477	broad.mit.edu	37	16	48395697	48395697	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:48395697G>A	ENST00000380006.2	-	1	2096	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	SIAH1_ENST00000356721.3_Missense_Mutation_p.R246C|SIAH1_ENST00000394725.2_Missense_Mutation_p.R215C|LONP2_ENST00000564259.1_3'UTR			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	215	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GCTTGCTTGCGTGTTCCTATC	0.443000													14	66					0	0	0.00316338	0	0
MUS81	80198	broad.mit.edu	37	11	65631092	65631092	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:65631092G>C	ENST00000308110.4	+	9	1210	c.861G>C	c.(859-861)ctG>ctC	p.L287L	MUS81_ENST00000533035.1_Silent_p.L212L	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	287	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGCCGGAGCTGCTCCGAGAGC	0.632000								Homologous recombination					3	28					0	0	6.4e-05	0	0
POLH	5429	broad.mit.edu	37	6	43582058	43582058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:43582058G>A	ENST00000372236.4	+	11	2201	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	POLH_ENST00000535400.1_Missense_Mutation_p.E574K|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	636					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGTGCCCTGTGAGAAGTGTGG	0.502000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				32	136					0	0	0.00283554	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686959	151686959	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:151686959G>C	ENST00000325144.4	-	3	1382	c.1242C>G	c.(1240-1242)agC>agG	p.S414R		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AAGTGTCGATGCTCTGGTTGA	0.512000													7	49					0	0	0.00307968	0	0
KLHL1	57626	broad.mit.edu	37	13	70535472	70535472	+	Missense_Mutation	SNP	G	G	A	rs139916031		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr13:70535472G>A	ENST00000377844.4	-	3	1544	c.785C>T	c.(784-786)gCt>gTt	p.A262V	KLHL1_ENST00000545028.1_Missense_Mutation_p.A69V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	262	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTCCCAGAGAGCATTGGGGTC	0.388000													18	33					0	0	0.00229938	0	0
ITPA	3704	broad.mit.edu	37	20	3202541	3202541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:3202541C>T	ENST00000380113.3	+	7	658	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.1_Nonsense_Mutation_p.Q139*|ITPA_ENST00000399838.3_Nonsense_Mutation_p.Q115*	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	156					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						CCCCTGCTTTCAGCCTGATGG	0.617000													9	41					0	0	0.000978159	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579406	44579406	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:44579406C>A	ENST00000289547.4	-	2	645	c.590G>T	c.(589-591)tGc>tTc	p.C197F	NPC1L1_ENST00000546276.1_Missense_Mutation_p.C197F|NPC1L1_ENST00000423141.1_Missense_Mutation_p.C197F|NPC1L1_ENST00000381160.3_Missense_Mutation_p.C197F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	197					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGGGCATTGCAAAGGGCAGA	0.637000													25	66					5.35047e-06	2.20367e-05	0.00332997	1	0
VEZT	55591	broad.mit.edu	37	12	95694417	95694417	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:95694417G>C	ENST00000436874.1	+	12	2413	c.2308G>C	c.(2308-2310)Gaa>Caa	p.E770Q	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E722Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	770						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACAAATAATAGAAGAAAATAA	0.383000													3	32					0	0	6.4e-05	0	0
LUZP4	51213	broad.mit.edu	37	X	114540929	114540929	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:114540929A>G	ENST00000371920.3	+	4	509	c.502A>G	c.(502-504)Aga>Gga	p.R168G	LUZP4_ENST00000451986.2_Missense_Mutation_p.R86G	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	168						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CCACTTAGAGAGATCTCTTTC	0.448000													41	18					0	0	0.00148497	0	0
A1BG	1	broad.mit.edu	37	19	58862944	58862944	+	Missense_Mutation	SNP	G	G	T	rs117988784	by1000genomes	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:58862944G>T	ENST00000263100.3	-	5	784	c.723C>A	c.(721-723)ttC>ttA	p.F241L	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	241	Ig-like V-type 3.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GCCGTAGCTGGAAGTCCACTC	0.637000													15	23					1.62849e-17	7.37373e-17	0.00400662	1	0
POU4F2	5458	broad.mit.edu	37	4	147560567	147560567	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:147560567T>A	ENST00000281321.3	+	1	523	c.275T>A	c.(274-276)cTt>cAt	p.L92H		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	92					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AGAGCCTGTCTTCCAACCCCA	0.622000													14	22					0	0	0.00244969	0	0
KCNQ1	3784	broad.mit.edu	37	11	2594162	2594162	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:2594162C>T	ENST00000155840.5	+	6	975	c.867C>T	c.(865-867)aaC>aaT	p.N289N	KCNQ1_ENST00000335475.5_Silent_p.N162N	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	289					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ACGCGGTGAACGAGTCAGGCC	0.597000													15	19					0	0	0.00244969	0	0
MYCBP2	23077	broad.mit.edu	37	13	77742684	77742684	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr13:77742684G>C	ENST00000407578.2	-	40	6259	c.5993C>G	c.(5992-5994)tCg>tGg	p.S1998W	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960W|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1960W	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTATCTGTCGACTGATTAGG	0.493000													18	72					0	0	0.00074312	0	0
GDF3	9573	broad.mit.edu	37	12	7843292	7843292	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:7843292G>T	ENST00000329913.3	-	2	324	c.277C>A	c.(277-279)Ctt>Att	p.L93I		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	93					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTTGGGTAAAGAAAGAAACCT	0.403000													28	56					4.87955e-14	2.13006e-13	0.000878237	1	0
SLC25A6	293	broad.mit.edu	37	X	1508618	1508618	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:1508618G>C	ENST00000381401.5	-	2	828	c.114C>G	c.(112-114)gtC>gtG	p.V38V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	38					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TGGCGTGCTGGACCTGGGGGA	0.587000													26	199					0	0	0.00178596	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68150679	68150679	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:68150679C>G	ENST00000262215.3	-	22	3577	c.3188G>C	c.(3187-3189)gGa>gCa	p.G1063A	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.G517A|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1063					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGGTTTCACTCCAGTTCCTAT	0.393000													18	37					0	0	0.000566183	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842012	8842012	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:8842012A>C	ENST00000324060.2	+	1	697	c.622A>C	c.(622-624)Atg>Ctg	p.M208L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGATCCTAATGCTCCCTCT	0.582000													34	51					0	0	0.00283554	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767248	77767248	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:77767248G>A	ENST00000521891.2	+	10	8539	c.8091G>A	c.(8089-8091)cgG>cgA	p.R2697R	ZFHX4_ENST00000050961.6_Silent_p.R2652R|ZFHX4_ENST00000455469.2_Silent_p.R2652R|ZFHX4_ENST00000518282.1_Silent_p.R2671R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2652						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCGCTCTCGGCACTGGAATG	0.512000										HNSCC(33;0.089)			17	60					0	0	0.000566183	0	0
NLRP7	199713	broad.mit.edu	37	19	55441964	55441964	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:55441964G>T	ENST00000588756.1	-	11	3199	c.2713C>A	c.(2713-2715)Ctc>Atc	p.L905I	NLRP7_ENST00000592784.1_Missense_Mutation_p.L905I|NLRP7_ENST00000590030.1_Missense_Mutation_p.L905I|NLRP7_ENST00000448121.2_Missense_Mutation_p.L877I|NLRP7_ENST00000446217.1_Missense_Mutation_p.L933I|NLRP7_ENST00000340844.2_Missense_Mutation_p.L905I|NLRP7_ENST00000328092.5_Missense_Mutation_p.L877I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	905							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGTTTGTGAGGCTGCAGGCT	0.463000													50	66					3.31993e-32	1.52215e-31	0.00361006	1	0
ZNF564	163050	broad.mit.edu	37	19	12639154	12639154	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:12639154A>C	ENST00000339282.7	-	3	351	c.155T>G	c.(154-156)aTt>aGt	p.I52S	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCAATCTTCAATGCTCTGGTC	0.299000													5	32					0	0	0.00116845	0	0
ILDR1	286676	broad.mit.edu	37	3	121712107	121712107	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:121712107G>A	ENST00000273691.3	-	6	1462	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ILDR1_ENST00000344209.5_Missense_Mutation_p.R497C|ILDR1_ENST00000462014.1_Missense_Mutation_p.R465C|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.R408C	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	497	Arg-rich.		R -> Q (in DFNB42; uncertain pathological significance).			cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGCGAGCCGCGGCGGTGGGCC	0.632000													10	27					0	0	0.000673444	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	58					0	0	0.00198382	0	0
SAMM50	25813	broad.mit.edu	37	22	44392249	44392249	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:44392249A>G	ENST00000350028.4	+	15	1553	c.1396A>G	c.(1396-1398)Ata>Gta	p.I466V	SAMM50_ENST00000396202.3_Missense_Mutation_p.I256V	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	466					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGAGCTGGGATAAGGTTCCT	0.592000													4	320					0	0	0.00024832	0	0
CD97	976	broad.mit.edu	37	19	14513676	14513676	+	Splice_Site	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:14513676T>C	ENST00000242786.5	+	12	1529		c.e12+2		CD97_ENST00000358600.3_Splice_Site|CD97_ENST00000357355.3_Splice_Site|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule						cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTGCCAAGGTCTCTGCTCAC	0.562000													18	45					0	0	0.00152264	0	0
COG4	25839	broad.mit.edu	37	16	70551611	70551611	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:70551611T>C	ENST00000323786.5	-	3	308	c.287A>G	c.(286-288)aAg>aGg	p.K96R	COG4_ENST00000393612.4_Missense_Mutation_p.K92R|COG4_ENST00000564653.1_Missense_Mutation_p.K96R	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	92	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGCCAGCTGCTTTGCATCTCC	0.443000													32	62					0	0	0.00178596	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927031	92927031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:92927031C>T	ENST00000373079.3	-	1	1536	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	425					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAATTTCTCCAGTAGCAGTT	0.443000													6	4					0	0	0.00116845	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54106918	54106918	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:54106918G>C	ENST00000548263.1	-	14	1912	c.1864C>G	c.(1864-1866)Cct>Gct	p.P622A	CALCOCO1_ENST00000550804.1_Missense_Mutation_p.P622A|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P537A|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P621A			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	622	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCAGTTCAGGAAGCAGTAAG	0.577000													31	69					0	0	0.00283554	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	39					0	0	0.00024832	0	0
IL12RB1	3594	broad.mit.edu	37	19	18191667	18191667	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:18191667C>T	ENST00000600835.1	-	5	687	c.384G>A	c.(382-384)gaG>gaA	p.E128E	IL12RB1_ENST00000593993.1_Silent_p.E128E|IL12RB1_ENST00000322153.6_Silent_p.E128E|IL12RB1_ENST00000430026.2_Silent_p.E128E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	128	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCAGGGTCACCTCAGGAGACT	0.582000													14	76					0	0	0.00316338	0	0
PC	5091	broad.mit.edu	37	11	66617734	66617734	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:66617734T>C	ENST00000393960.1	-	19	2956	c.2675A>G	c.(2674-2676)aAg>aGg	p.K892R	PC_ENST00000529047.1_Missense_Mutation_p.K12R|PC_ENST00000393958.2_Missense_Mutation_p.K892R|PC_ENST00000393955.2_Missense_Mutation_p.K892R	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	892					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CACATAGGCCTTCTTGACCTC	0.602000													11	41					0	0	0.000978159	0	0
IFRD2	7866	broad.mit.edu	37	3	50330076	50330076	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:50330076C>A	ENST00000336089.4	-	2	228	c.229G>T	c.(229-231)Ggc>Tgc	p.G77C	IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	82							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCGCCCCAGCCCCGCGTCGGG	0.657000													20	32					2.94398e-08	1.24777e-07	0.000958276	1	0
COL5A2	1290	broad.mit.edu	37	2	189906418	189906418	+	Splice_Site	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:189906418C>T	ENST00000374866.3	-	50	3801	c.3525_splice	c.e50-1	p.G1176_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1176					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCTGGAGGACCCTGCAAGAA	0.448000													29	74					0	0	0.000878237	0	0
CTNNA2	1496	broad.mit.edu	37	2	80097053	80097053	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:80097053A>G	ENST00000466387.1	+	9	1301	c.577A>G	c.(577-579)Aga>Gga	p.R193G	CTNNA2_ENST00000402739.4_Missense_Mutation_p.R193G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R227G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	193					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCAGCAAGAAGACAACAGGT	0.403000													16	68					0	0	0.000958276	0	0
PGK2	5232	broad.mit.edu	37	6	49754449	49754449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:49754449C>T	ENST00000304801.3	-	1	604	c.452G>A	c.(451-453)cGa>cAa	p.R151Q		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	151					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGTGATGCTCGGAAGGCTTC	0.498000													19	83					0	0	0.00121646	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74696051	74696051	+	Silent	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:74696051C>G	ENST00000380494.5	-	11	1766	c.1473G>C	c.(1471-1473)ggG>ggC	p.G491G	COL4A3BP_ENST00000405807.4_Silent_p.G363G|COL4A3BP_ENST00000261415.7_Silent_p.G363G	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	363	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTATGTGTCCCCACAGAAG	0.363000													7	10					0	0	0.00307968	0	0
GCLC	2729	broad.mit.edu	37	6	53373486	53373486	+	Silent	SNP	G	G	T	rs17879847	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:53373486G>T	ENST00000229416.6	-	8	1335	c.852C>A	c.(850-852)ccC>ccA	p.P284P		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	284					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	p.P284P(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CTCGGTAAAAGGGAGATGCAG	0.443000													13	95					3.27435e-08	1.37184e-07	0.00244969	1	0
CPSF6	11052	broad.mit.edu	37	12	69656338	69656338	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:69656338A>G	ENST00000435070.2	+	9	1765	c.1655A>G	c.(1654-1656)tAg>tGg	p.*552W	CPSF6_ENST00000551516.1_Missense_Mutation_p.R55G|CPSF6_ENST00000456847.3_Nonstop_Mutation_p.*479W|CPSF6_ENST00000266679.8_Nonstop_Mutation_p.*589W	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	0					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CGTCATCGTTAGAAGGTGGGT	0.443000													6	33					0	0	0.00116845	0	0
RNF19A	25897	broad.mit.edu	37	8	101299760	101299760	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:101299760C>T	ENST00000519449.1	-	3	959	c.643G>A	c.(643-645)Gat>Aat	p.D215N	RNF19A_ENST00000341084.2_Missense_Mutation_p.D215N	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	215					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CACCTACAATCAGGATCTGCA	0.358000													28	59					0	0	0.0024448	0	0
TTN	7273	broad.mit.edu	37	2	179528604	179528604	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:179528604G>A	ENST00000589042.1	-	170	36614	c.36390C>T	c.(36388-36390)atC>atT	p.I12130I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10279	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTCGCGGATAACCTCTT	0.423000													84	202					0	0	0.00361006	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	73					0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13719088	13719088	+	Silent	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:13719088A>G	ENST00000265104.4	-	72	12506	c.12402T>C	c.(12400-12402)gcT>gcC	p.A4134A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4134	AAA 6 (By similarity).		A -> V (in dbSNP:rs30168).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTGCTTATGAGCCTCGGTGG	0.468000									Kartagener syndrome				25	115					0	0	0.00127121	0	0
ZNF318	24149	broad.mit.edu	37	6	43322436	43322436	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:43322436G>A	ENST00000361428.2	-	4	2713	c.2636C>T	c.(2635-2637)tCt>tTt	p.S879F	ZNF318_ENST00000318149.3_Missense_Mutation_p.S879F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	879					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCTCATCAGAGATCTTCTC	0.438000													24	43					0	0	0.00278032	0	0
MDH1B	130752	broad.mit.edu	37	2	207605810	207605810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:207605810G>A	ENST00000374412.3	-	10	1702	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	MDH1B_ENST00000449792.1_Missense_Mutation_p.P378L|MDH1B_ENST00000454776.2_Missense_Mutation_p.P476L	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	476					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTCTTCATCAGGGACCAGATC	0.338000													20	25					0	0	0.00121646	0	0
SVIL	6840	broad.mit.edu	37	10	29824982	29824982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr10:29824982G>C	ENST00000375398.2	-	9	1293	c.844C>G	c.(844-846)Cat>Gat	p.H282D	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.H282D			O95425	SVIL_HUMAN	supervillin	282					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AACCACTCATGTTTGGGTTTC	0.433000											OREG0020098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	49					0	0	0.000442599	0	0
CD40	958	broad.mit.edu	37	20	44756788	44756788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:44756788C>T	ENST00000372285.3	+	7	643	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.S170L	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	191					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TCCCCAGGATCGGCTGAGAGC	0.547000									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	102					0	0	0.000566183	0	0
SHOX2	6474	broad.mit.edu	37	3	157815817	157815817	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:157815817C>T	ENST00000490689.2	-	5	2105	c.572G>A	c.(571-573)tGa>tAa	p.*191*	SHOX2_ENST00000425436.3_Silent_p.*332*|SHOX2_ENST00000389589.4_Silent_p.*356*|SHOX2_ENST00000441443.2_Silent_p.*191*|SHOX2_ENST00000483851.2_Silent_p.*320*			O60902	SHOX2_HUMAN	short stature homeobox 2	0					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.*356L(1)|p.*191L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGTTGGCGTCACAGACCCAG	0.657000													141	470					0	0	0.00361006	0	0
LTBP1	4052	broad.mit.edu	37	2	33412051	33412051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:33412051C>T	ENST00000404816.2	+	6	1683	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q444*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.Q118*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	444					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAACTTTATCAGCATTCCCA	0.512000													18	50					0	0	0.000566183	0	0
MYOM2	9172	broad.mit.edu	37	8	2040177	2040177	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:2040177T>C	ENST00000262113.4	+	16	1973	c.1832T>C	c.(1831-1833)gTc>gCc	p.V611A	MYOM2_ENST00000523438.1_Missense_Mutation_p.V36A	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	611					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGAAAAGTTGTCCCTTCTGCT	0.557000													103	144					0	0	0.00361006	0	0
COMT	1312	broad.mit.edu	37	22	19950331	19950331	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:19950331C>T	ENST00000361682.6	+	3	664	c.282C>T	c.(280-282)gaC>gaT	p.D94D	COMT_ENST00000407537.1_Silent_p.D44D|COMT_ENST00000403184.1_Silent_p.D94D|COMT_ENST00000449653.1_Silent_p.D44D|COMT_ENST00000403710.1_Silent_p.D94D|COMT_ENST00000406520.3_Silent_p.D94D	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	94					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	ACGTGGGCGACAAGAAAGGTG	0.612000													7	35					0	0	0.00198382	0	0
TMEM106B	54664	broad.mit.edu	37	7	12263954	12263954	+	Silent	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:12263954A>G	ENST00000396667.2	+	5	706	c.384A>G	c.(382-384)gtA>gtG	p.V128V	TMEM106B_ENST00000396668.3_Silent_p.V128V	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	128						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACATTGGTGTAAAATCAGCCT	0.343000													44	105					0	0	0.00195071	0	0
FCRL4	83417	broad.mit.edu	37	1	157557696	157557696	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:157557696T>A	ENST00000271532.1	-	4	656	c.521A>T	c.(520-522)aAt>aTt	p.N174I	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	174	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAATACATCATTCTCGTCTCC	0.318000													6	19					0	0	0.00116845	0	0
SLC25A13	10165	broad.mit.edu	37	7	95775995	95775995	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:95775995T>A	ENST00000416240.2	-	14	1518	c.1328A>T	c.(1327-1329)cAg>cTg	p.Q443L	SLC25A13_ENST00000542654.1_Missense_Mutation_p.Q334L|SLC25A13_ENST00000265631.5_Missense_Mutation_p.Q442L	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	442					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GAAAATCACCTGGGAGCCTCC	0.433000													63	73					0	0	0.00361006	0	0
TEX10	54881	broad.mit.edu	37	9	103090242	103090242	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:103090242T>C	ENST00000374902.4	-	8	1804	c.1628A>G	c.(1627-1629)tAt>tGt	p.Y543C	TEX10_ENST00000535814.1_Missense_Mutation_p.Y546C	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	543						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTACTACGATATCTTAGAAA	0.338000													4	9					0	0	0.000602214	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735807	12735807	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:12735807G>A	ENST00000380682.1	+	16	3368	c.2862G>A	c.(2860-2862)ccG>ccA	p.P954P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	954					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCGAGTTCCCGGCCTCCAAGA	0.612000													76	42					0	0	0.00361006	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263365	140263365	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:140263365G>A	ENST00000289272.2	+	1	1512	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.L504L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGCGCTGTCGAGCTACG	0.672000													37	61					0	0	0.000953801	0	0
OSGIN2	734	broad.mit.edu	37	8	90926441	90926441	+	Splice_Site	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:90926441G>A	ENST00000451899.2	+	3	596	c.336_splice	c.e3+1	p.Q112_splice	OSGIN2_ENST00000520659.1_Splice_Site_p.Q112_splice|OSGIN2_ENST00000297438.2_Splice_Site_p.Q68_splice	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	68					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTGTTGATCAGGTATTATTTC	0.274000													9	29					0	0	0.000274275	0	0
CDH7	1005	broad.mit.edu	37	18	63547834	63547834	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr18:63547834C>T	ENST00000397968.2	+	12	2488	c.2062C>T	c.(2062-2064)Cca>Tca	p.P688S	CDH7_ENST00000323011.3_Missense_Mutation_p.P688S	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	688					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGATGTGACTCCAGAAATTCA	0.478000													13	42					0	0	0.00136819	0	0
SRRM2	23524	broad.mit.edu	37	16	2817671	2817671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:2817671C>G	ENST00000301740.8	+	11	7691	c.7142C>G	c.(7141-7143)aCc>aGc	p.T2381S	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2381	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAAACCTCACCAGCCCCAGG	0.632000													34	87					0	0	0.00209593	0	0
PRDM16	63976	broad.mit.edu	37	1	3322204	3322204	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:3322204C>T	ENST00000378398.3	+	9	1263	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	PRDM16_ENST00000442529.2_Missense_Mutation_p.P393L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P393L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.P393L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P393L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P394L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P394L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	393					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACGGTGAAGCCTTTCATATGT	0.701000			T	EVI1	"""MDS, AML"""								14	76					0	0	0.00316338	0	0
OR6C70	390327	broad.mit.edu	37	12	55863389	55863389	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:55863389G>A	ENST00000327335.4	-	1	533	c.534C>T	c.(532-534)gaC>gaT	p.D178D	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TAAGAGAAATGTCACAAATGA	0.348000													32	94					0	0	0.00209593	0	0
XPO6	23214	broad.mit.edu	37	16	28167615	28167615	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:28167615T>C	ENST00000304658.5	-	7	1377	c.877A>G	c.(877-879)Aac>Gac	p.N293D	XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.N279D	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	293					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGCTGCCGTTAACTGACGCC	0.577000													29	67					0	0	0.000878237	0	0
TRO	7216	broad.mit.edu	37	X	54955857	54955857	+	Silent	SNP	T	T	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:54955857T>G	ENST00000173898.7	+	12	2812	c.2700T>G	c.(2698-2700)ggT>ggG	p.G900G	TRO_ENST00000420798.2_Silent_p.G431G|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.G503G|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	900	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCTGTTTTGGTGGCTCTCCCA	0.557000													3	51					0	0	6.4e-05	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989681	15989681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:15989681C>T	ENST00000221700.5	-	13	1558	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	CYP4F2_ENST00000592328.1_Missense_Mutation_p.R488H	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	488					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACGCGGAAGCGCAGCAGCGT	0.677000													9	68					0	0	0.000274275	0	0
OR5H14	403273	broad.mit.edu	37	3	97868655	97868655	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:97868655C>G	ENST00000437310.1	+	1	486	c.426C>G	c.(424-426)atC>atG	p.I142M		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GACTGTGCATCCGGCTATTAA	0.393000													16	162					0	0	0.00400662	0	0
CHKA	1119	broad.mit.edu	37	11	67821473	67821473	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:67821473C>T	ENST00000265689.4	-	12	1382	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	CHKA_ENST00000533728.1_5'UTR|CHKA_ENST00000356135.5_Silent_p.K434K	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	452					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	CAAGCTTCCTCTTCTGGTGGA	0.577000													5	16					0	0	0.00116845	0	0
ATP1B2	482	broad.mit.edu	37	17	7557506	7557506	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:7557506C>T	ENST00000250111.4	+	4	890	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	161					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GCAACTGCTCCGGCATTGGGG	0.562000													149	122					0	0	0.00361006	0	0
SAT1	6303	broad.mit.edu	37	X	23801827	23801827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:23801827G>A	ENST00000379251.3	+	2	298	c.119G>A	c.(118-120)gGt>gAt	p.G40D	SAT1_ENST00000379253.3_Splice_Site|SAT1_ENST00000489394.1_Splice_Site|SAT1_ENST00000379270.4_Splice_Site|SAT1_ENST00000379254.1_Splice_Site			P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	39	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	ACTGAAAAAGGTAATTCAACA	0.488000													10	11					0	0	0.000673444	0	0
AZI2	64343	broad.mit.edu	37	3	28365639	28365639	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:28365639C>T	ENST00000479665.1	-	8	1604	c.1073G>A	c.(1072-1074)aGt>aAt	p.S358N	CMC1_ENST00000466830.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	358						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TGCTGTCTCACTTGATTTAGG	0.398000													32	43					0	0	0.00209593	0	0
SEMA4G	57715	broad.mit.edu	37	10	102740948	102740948	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr10:102740948A>G	ENST00000210633.3	+	13	1745	c.1667A>G	c.(1666-1668)gAg>gGg	p.E556G	SEMA4G_ENST00000370250.4_Missense_Mutation_p.E551G|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E556G|MRPL43_ENST00000370242.4_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	551	PSI.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CAGGACATAGAGAGAGGAAAT	0.483000													7	56					0	0	0.00198382	0	0
NLGN1	22871	broad.mit.edu	37	3	173996813	173996813	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:173996813A>T	ENST00000457714.1	+	6	1451	c.1022A>T	c.(1021-1023)gAa>gTa	p.E341V	NLGN1_ENST00000545397.1_Missense_Mutation_p.E341V|NLGN1_ENST00000361589.4_Missense_Mutation_p.E341V|NLGN1_ENST00000401917.3_Missense_Mutation_p.E381V|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	358					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCTTACAAAGAACTTGTTGAC	0.423000													43	123					0	0	0.00170553	0	0
SLC38A1	81539	broad.mit.edu	37	12	46592498	46592498	+	Silent	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:46592498T>C	ENST00000398637.5	-	14	1726	c.1032A>G	c.(1030-1032)aaA>aaG	p.K344K	SLC38A1_ENST00000549049.1_Silent_p.K344K|SLC38A1_ENST00000546893.1_Silent_p.K344K|SLC38A1_ENST00000552197.1_Silent_p.K344K|SLC38A1_ENST00000439706.1_Silent_p.K344K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	344					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TACTCTGATATTTGTGAAGGA	0.428000													16	42					0	0	0.000566183	0	0
ATP13A3	79572	broad.mit.edu	37	3	194152587	194152587	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:194152587T>A	ENST00000439040.1	-	22	3071	c.2280A>T	c.(2278-2280)agA>agT	p.R760S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R760S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	760					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTCCACAATCTCTGGCCACAG	0.353000													10	44					0	0	0.000442599	0	0
FBXO31	79791	broad.mit.edu	37	16	87365007	87365007	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:87365007G>C	ENST00000311635.7	-	9	1519	c.1507C>G	c.(1507-1509)Ctg>Gtg	p.L503V	RP11-178L8.4_ENST00000568879.1_Intron	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	503					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AAGGATTTCAGCTCCAGCCAG	0.622000													13	24					0	0	0.00136819	0	0
SULF2	55959	broad.mit.edu	37	20	46301111	46301111	+	Silent	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:46301111C>A	ENST00000359930.4	-	11	2258	c.1407G>T	c.(1405-1407)acG>acT	p.T469T	SULF2_ENST00000484875.1_Silent_p.T469T|SULF2_ENST00000361612.4_Silent_p.T469T|SULF2_ENST00000467815.1_Silent_p.T469T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	469					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.T469T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCAGCTTCCCCGTGGCGTCCT	0.652000													4	31					0.00024832	0.00100014	0.00024832	1	0
ALG1L2	644974	broad.mit.edu	37	3	129817127	129817127	+	RNA	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:129817127A>C	ENST00000507643.1	+	0	709							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CCAGTTCCGGAAGAACCTGCG	0.522000													3	79					0	0	6.4e-05	0	0
ZNF844	284391	broad.mit.edu	37	19	12186456	12186456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:12186456G>A	ENST00000439326.3	+	4	696	c.521G>A	c.(520-522)tGt>tAt	p.C174Y	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGTAAAGAATGTGGAAAAACC	0.383000													12	20					0	0	0.000978159	0	0
NFE2L1	4779	broad.mit.edu	37	17	46128746	46128746	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:46128746C>A	ENST00000362042.3	+	2	882	c.266C>A	c.(265-267)gCc>gAc	p.A89D	NFE2L1_ENST00000585291.1_Missense_Mutation_p.A89D|NFE2L1_ENST00000357480.5_Missense_Mutation_p.A89D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.A89D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	89					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGTGAGGGCCCTGGACAGG	0.582000													25	94					3.08376e-08	1.29946e-07	0.00332997	1	0
PRKCH	5583	broad.mit.edu	37	14	61997130	61997130	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:61997130C>A	ENST00000556347.1	+	2	92	c.92C>A	c.(91-93)tCc>tAc	p.S31Y	PRKCH_ENST00000332981.5_Silent_p.L526L|PRKCH_ENST00000555082.1_Silent_p.L365L																							CACAGATCCTCCAGGAAATGC	0.483000													30	138					3.99451e-17	1.79753e-16	0.00178596	1	0
TUBB4B	10383	broad.mit.edu	37	9	140137973	140137973	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:140137973G>A	ENST00000340384.4	+	4	1451	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	435					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										GGAGGAGGGCGAGTTCGAGGA	0.587000													48	45					0	0	0.00361006	0	0
KCNB2	9312	broad.mit.edu	37	8	73850088	73850088	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:73850088G>C	ENST00000523207.1	+	3	3086	c.2498G>C	c.(2497-2499)tGc>tCc	p.C833S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	833					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGCCCAAATTGCTTTGCAGAT	0.537000													21	51					0	0	0.00229938	0	0
OR5M9	390162	broad.mit.edu	37	11	56230205	56230205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:56230205G>A	ENST00000279791.1	-	1	672	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R225C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GAGCGCATGCGTAGCACAGCT	0.478000													7	10					0	0	0.00307968	0	0
TMEM192	201931	broad.mit.edu	37	4	166000814	166000814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:166000814G>C	ENST00000306480.5	-	6	957	c.812C>G	c.(811-813)aCg>aGg	p.T271R	TMEM192_ENST00000506087.1_Missense_Mutation_p.T267R	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	271						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		AGCCTCTCACGTTCTACTTGG	0.527000													6	17					0	0	0.00116845	0	0
VPS11	55823	broad.mit.edu	37	11	118938701	118938701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:118938701G>A	ENST00000300793.6	+	1	209	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	56					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GACTCAGGCCGAGGGAGCCTG	0.577000													4	10					0	0	0.00024832	0	0
RPTN	126638	broad.mit.edu	37	1	152128471	152128471	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:152128471A>T	ENST00000316073.3	-	3	1168	c.1104T>A	c.(1102-1104)agT>agA	p.S368R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	368	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTTTGGTTGACTGTAGTGGG	0.463000													163	824					0	0	0.00361006	0	0
FBN3	84467	broad.mit.edu	37	19	8131097	8131097	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:8131097C>T	ENST00000600128.1	-	64	8550	c.8136G>A	c.(8134-8136)ctG>ctA	p.L2712L	FBN3_ENST00000601739.1_Silent_p.L2712L|FBN3_ENST00000270509.2_Silent_p.L2712L			Q75N90	FBN3_HUMAN	fibrillin 3	2712						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGAGAGGTTCAGGCCCAAGG	0.662000													8	15					0	0	0.000274275	0	0
RGS6	9628	broad.mit.edu	37	14	72925015	72925015	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:72925015A>C	ENST00000553530.1	+	5	479	c.272A>C	c.(271-273)cAg>cCg	p.Q91P	RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000407322.4_Missense_Mutation_p.Q91P|RGS6_ENST00000355512.6_Missense_Mutation_p.Q91P|RGS6_ENST00000404301.2_Missense_Mutation_p.Q91P|RGS6_ENST00000343854.6_Missense_Mutation_p.Q91P|RGS6_ENST00000402788.2_Missense_Mutation_p.Q91P|RGS6_ENST00000556437.1_Missense_Mutation_p.Q91P|RGS6_ENST00000553525.1_Missense_Mutation_p.Q91P|RGS6_ENST00000555571.1_Missense_Mutation_p.Q91P|RGS6_ENST00000406236.4_Missense_Mutation_p.Q91P|RGS6_ENST00000434263.2_Missense_Mutation_p.Q22P	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	91	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATCGCTGCCCAGGGCTACATC	0.458000													26	53					0	0	0.00127121	0	0
NEB	4703	broad.mit.edu	37	2	152586143	152586143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:152586143C>T	ENST00000427231.2	-	4	266	c.64G>A	c.(64-66)Gag>Aag	p.E22K	NEB_ENST00000172853.10_Missense_Mutation_p.E22K|NEB_ENST00000604864.1_Missense_Mutation_p.E22K|NEB_ENST00000603639.1_Missense_Mutation_p.E22K|NEB_ENST00000397345.3_Missense_Mutation_p.E22K|NEB_ENST00000409198.1_Missense_Mutation_p.E22K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	22					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCGGCACCTCTTCGTAAACC	0.493000													42	65					0	0	0.00321405	0	0
SLC27A5	10998	broad.mit.edu	37	19	59011917	59011917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:59011917G>A	ENST00000263093.2	-	5	1448	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R363C	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	447					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCCCGCAGCGCCCCACATAG	0.602000													10	32					0	0	0.000673444	0	0
FAT1	2195	broad.mit.edu	37	4	187627774	187627774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:187627774G>A	ENST00000441802.2	-	2	3417	c.3208C>T	c.(3208-3210)Cga>Tga	p.R1070*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1070	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGAGTATCGGATCTCCCCA	0.443000										HNSCC(5;0.00058)			49	70					0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9049680	9049680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:9049680C>G	ENST00000397910.4	-	5	32154	c.31951G>C	c.(31951-31953)Gca>Cca	p.A10651P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10653	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A6284S(1)|p.A10651S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCAGTGCATCTAGTTCA	0.473000													14	63					0	0	0.00185496	0	0
MTR	4548	broad.mit.edu	37	1	237060420	237060420	+	Splice_Site	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:237060420T>C	ENST00000366577.5	+	32	4105		c.e32+2		MTR_ENST00000535889.1_Splice_Site|MTR_ENST00000470570.1_Splice_Site	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGGATCAGGTAAGCTAGCTG	0.403000													19	99					0	0	0.00074312	0	0
ZNF470	388566	broad.mit.edu	37	19	57089845	57089845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:57089845G>A	ENST00000330619.8	+	6	2734	c.2048G>A	c.(2047-2049)gGa>gAa	p.G683E	ZNF470_ENST00000391709.3_Missense_Mutation_p.G683E|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	683					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AAAGAATGTGGAAAAGCCTTC	0.458000													11	47					0	0	0.000978159	0	0
CASZ1	54897	broad.mit.edu	37	1	10719786	10719786	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:10719786A>T	ENST00000377022.3	-	6	1630	c.1313T>A	c.(1312-1314)aTc>aAc	p.I438N	CASZ1_ENST00000344008.5_Missense_Mutation_p.I438N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCCGTGGTGATGGAGTCTGT	0.632000													13	60					0	0	0.00244969	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71555671	71555671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:71555671C>G	ENST00000265382.3	+	14	1772	c.1467C>G	c.(1465-1467)caC>caG	p.H489Q	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.H489Q	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	489						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TCAATGAGCACTATCCACACG	0.478000													33	56					0	0	0.0024448	0	0
PDPR	55066	broad.mit.edu	37	16	70176575	70176575	+	Missense_Mutation	SNP	A	A	G	rs2549566	by1000genomes	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:70176575A>G	ENST00000288050.4	+	13	2548	c.1591A>G	c.(1591-1593)Aag>Gag	p.K531E	PDPR_ENST00000398122.3_Missense_Mutation_p.K431E|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Missense_Mutation_p.K531E	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	531					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTCTTTCACAAAGTTTGAGAT	0.353000													4	144					0	0	0.00024832	0	0
ERC1	23085	broad.mit.edu	37	12	1289706	1289706	+	Splice_Site	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:1289706A>C	ENST00000397203.2	+	9	2144	c.1737_splice	c.e9-1	p.I580_splice	ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Splice_Site_p.I580_splice|ERC1_ENST00000355446.5_Splice_Site_p.I580_splice|ERC1_ENST00000589028.1_Splice_Site_p.I580_splice|ERC1_ENST00000543086.3_Splice_Site_p.I552_splice|ERC1_ENST00000360905.4_Splice_Site_p.I580_splice			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	580					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GTACATTTAGATTGAAAATCT	0.368000													17	32					0	0	0.000566183	0	0
RYR3	6263	broad.mit.edu	37	15	33955093	33955093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr15:33955093G>T	ENST00000389232.4	+	35	5432	c.5362G>T	c.(5362-5364)Gag>Tag	p.E1788*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E1788*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1788	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCCGGCAAGGAGGCTCCTGT	0.562000													29	179					1.30897e-18	5.964e-18	0.00178596	1	0
LMBRD2	92255	broad.mit.edu	37	5	36124341	36124341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:36124341G>C	ENST00000296603.4	-	7	1236	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	258						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTATACTTGATGCTTTCAT	0.269000													5	30					0	0	0.00198382	0	0
PROCR	10544	broad.mit.edu	37	20	33764086	33764086	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:33764086G>A	ENST00000216968.4	+	3	520	c.438G>A	c.(436-438)gaG>gaA	p.E146E	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	146					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TCCGGCCGGAGAGAGCCTTGT	0.607000													40	76					0	0	0.00148497	0	0
ZNF547	284306	broad.mit.edu	37	19	57879930	57879930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:57879930G>A	ENST00000282282.3	+	2	157	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	AC003002.4_ENST00000597658.1_Missense_Mutation_p.E3K	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCGATGGCAGAAATGAACCC	0.493000													7	56					0	0	0.00198382	0	0
CSMD1	64478	broad.mit.edu	37	8	2820010	2820010	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:2820010G>A	ENST00000520002.1	-	62	10164	c.9609C>T	c.(9607-9609)agC>agT	p.S3203S	CSMD1_ENST00000537824.1_Silent_p.S3202S|CSMD1_ENST00000542608.1_Silent_p.S3025S|CSMD1_ENST00000400186.3_Silent_p.S3026S|CSMD1_ENST00000602723.1_Silent_p.S3026S|CSMD1_ENST00000602557.1_Silent_p.S3203S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3203	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGTATGCCGCTCCACGTGC	0.468000													7	47					0	0	0.00307968	0	0
LCP1	3936	broad.mit.edu	37	13	46716545	46716545	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr13:46716545A>C	ENST00000398576.2	-	16	1772	c.1384T>G	c.(1384-1386)Tac>Gac	p.Y462D	LCP1_ENST00000435666.2_Missense_Mutation_p.Y31D|LCP1_ENST00000323076.2_Missense_Mutation_p.Y462D			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	462	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTACCGCGTAGTTACAATTC	0.383000			T	BCL6	NHL								10	28					0	0	0.000673444	0	0
ISL2	64843	broad.mit.edu	37	15	76629267	76629267	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr15:76629267G>A	ENST00000290759.4	+	1	203	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GGGTGCTATGGGTGATCATTC	0.443000													52	330					0	0	0.00361006	0	0
CTAGE5	4253	broad.mit.edu	37	14	39769088	39769088	+	Silent	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr14:39769088A>T	ENST00000553728.1	+	13	2511	c.2298A>T	c.(2296-2298)gtA>gtT	p.V766V	RP11-407N17.3_ENST00000603904.1_Silent_p.V202V|CTAGE5_ENST00000341749.3_Silent_p.V219V|CTAGE5_ENST00000396158.2_Silent_p.V236V|CTAGE5_ENST00000396165.4_Silent_p.V202V|CTAGE5_ENST00000553352.1_Silent_p.V202V|CTAGE5_ENST00000280083.3_Silent_p.V231V|CTAGE5_ENST00000556148.1_Silent_p.V156V|CTAGE5_ENST00000341502.5_Silent_p.V231V|CTAGE5_ENST00000557038.1_Silent_p.V151V|CTAGE5_ENST00000348007.3_Silent_p.V231V																							AAGCTGAAGTATGGAAAGAAC	0.318000													8	75					0	0	0.000274275	0	0
FMO1	2326	broad.mit.edu	37	1	171247913	171247913	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:171247913A>G	ENST00000354841.4	+	4	661	c.530A>G	c.(529-531)aAg>aGg	p.K177R	FMO1_ENST00000367750.3_Missense_Mutation_p.K177R|FMO1_ENST00000402921.2_Missense_Mutation_p.K114R|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	177					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CGGCAATATAAGCATCCAGAT	0.408000													3	87					0	0	0.00024832	0	0
DPP3	10072	broad.mit.edu	37	11	66262860	66262860	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr11:66262860G>C	ENST00000532677.1	+	14	1935	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	DPP3_ENST00000541961.1_Missense_Mutation_p.E493Q|DPP3_ENST00000453114.1_Missense_Mutation_p.E493Q|DPP3_ENST00000530165.1_Missense_Mutation_p.E463Q|DPP3_ENST00000531863.1_Missense_Mutation_p.E513Q|DPP3_ENST00000360510.2_Missense_Mutation_p.E493Q|DPP3_ENST00000533799.1_3'UTR	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	493					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGGAGCGGGGAGACCTGGGA	0.622000													4	27					0	0	0.00024832	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16875383	16875383	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr17:16875383C>A	ENST00000437538.2	-	1	15	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.G3C|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G3C|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.G3C			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	3					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CGGCCCAGGCCACTCATTACT	0.582000									IgA Deficiency, Selective				13	43					9.31168e-06	3.91752e-05	0.00185496	1	0
CSMD3	114788	broad.mit.edu	37	8	113267646	113267646	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:113267646A>T	ENST00000297405.5	-	62	10117	c.9873T>A	c.(9871-9873)tgT>tgA	p.C3291*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C3221*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C3251*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C3122*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3291	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGGTCACCACAAAACTTTG	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	52					0	0	0.000978159	0	0
ACTN3	89	broad.mit.edu	37	11	66326764	66326764	+	RNA	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr11:66326764G>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CAGGAGGTGCGGGCGTTGCTG	0.667000													9	44					1.76689e-08	7.7547e-08	0.000442599	1	0
HLA-DOA	3111	broad.mit.edu	37	6	32975992	32975992	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr6:32975992G>A	ENST00000229829.5	-	2	204	c.129C>T	c.(127-129)ggC>ggT	p.G43G	HLA-DOA_ENST00000450833.2_Silent_p.G13G	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	43	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCCGAGGCGCCGTAAGACT	0.537000													14	47					0	0	0.00316338	0	0
DSEL	92126	broad.mit.edu	37	18	65180979	65180979	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr18:65180979C>G	ENST00000310045.7	-	2	2370	c.897G>C	c.(895-897)caG>caC	p.Q299H	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	289						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAAAAACATACTGTGTGACGG	0.388000													14	69					0	0	0.00400662	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927031	92927031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chrX:92927031C>T	ENST00000373079.3	-	1	1536	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	425					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAATTTCTCCAGTAGCAGTT	0.443000													6	4					0	0	0.00116845	0	0
SEMA3B	7869	broad.mit.edu	37	3	50313227	50313227	+	RNA	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:50313227G>A	ENST00000418948.1	+	0	2031							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGCTGCAGGCGCGCGTGGAGT	0.692000													13	19					0	0	0.00185496	0	0
TBC1D5	9779	broad.mit.edu	37	3	17418038	17418038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:17418038G>C	ENST00000253692.7	-	10	2344	c.680C>G	c.(679-681)gCc>gGc	p.A227G	TBC1D5_ENST00000429924.2_Missense_Mutation_p.A179G|TBC1D5_ENST00000446818.2_Missense_Mutation_p.A227G|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A227G|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	227	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGACTCACTGGCATGTAGAAA	0.403000													19	36					0	0	0.00188189	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416529	57416529	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr16:57416529T>A	ENST00000565912.1	+	2	3371	c.665T>A	c.(664-666)cTg>cAg	p.L222Q	CX3CL1_ENST00000563383.1_Missense_Mutation_p.L266Q|CX3CL1_ENST00000006053.6_Missense_Mutation_p.L260Q			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	260	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGAACTCTCTGGAGCGGGAG	0.667000													22	44					0	0	0.00188189	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204403072	204403072	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:204403072C>T	ENST00000367187.3	-	26	4248	c.3692G>A	c.(3691-3693)cGt>cAt	p.R1231H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1203H|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1231	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAAGGGGGCACGGTCCCTGAG	0.557000													8	62					0	0	0.00307968	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													5	47					0	0	0.000602214	0	0
WRN	7486	broad.mit.edu	37	8	30977842	30977842	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:30977842C>A	ENST00000298139.5	+	21	2781	c.2532C>A	c.(2530-2532)gaC>gaA	p.D844E		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	844	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTCCTAAGGACATGGAATCAT	0.423000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				31	72					8.16721e-17	3.72236e-16	0.00209593	1	0
DNAH7	56171	broad.mit.edu	37	2	196718132	196718132	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr2:196718132C>A	ENST00000312428.6	-	46	8816	c.8716G>T	c.(8716-8718)Ggg>Tgg	p.G2906W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2906					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGATATCCCCAGTCAAGTTG	0.507000													22	23					1.28384e-07	5.46593e-07	0.00188189	1	0
ZNF45	7596	broad.mit.edu	37	19	44418581	44418581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:44418581G>A	ENST00000269973.5	-	10	2097	c.1007C>T	c.(1006-1008)gCa>gTa	p.A336V	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.A336V	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	336					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTTGCCACATGCATTGCATTT	0.458000													22	48					0	0	0.00188189	0	0
NUP210L	91181	broad.mit.edu	37	1	154029336	154029336	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:154029336C>T	ENST00000368559.3	-	23	3266	c.3195G>A	c.(3193-3195)aaG>aaA	p.K1065K	NUP210L_ENST00000368553.1_5'UTR|NUP210L_ENST00000271854.3_Silent_p.K1065K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1065						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCATCTTGTCCTTGGCAATAG	0.388000													6	66					0	0	0.00116845	0	0
FBN3	84467	broad.mit.edu	37	19	8188397	8188397	+	Silent	SNP	G	G	A	rs145240162	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:8188397G>A	ENST00000600128.1	-	24	3447	c.3033C>T	c.(3031-3033)tgC>tgT	p.C1011C	FBN3_ENST00000270509.2_Silent_p.C1011C|FBN3_ENST00000601739.1_Silent_p.C1011C			Q75N90	FBN3_HUMAN	fibrillin 3	1011	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCGCACAGGCGCAGTGGAAGC	0.597000													16	26					0	0	0.00316338	0	0
KNOP1	400506	broad.mit.edu	37	16	19718478	19718478	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr16:19718478G>C	ENST00000219837.7	-	5	1209	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_Silent_p.L56L	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		CCATAAGTCTGAGAAATTTCA	0.532000													25	61					0	0	0.00332997	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20876088	20876088	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:20876088C>A	ENST00000381552.1	+	9	1454	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S362R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S313R|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S362R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S244R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	362					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TATGTACAAGCACTGTTCAGT	0.378000													28	71					4.87955e-14	2.18199e-13	0.000878237	1	0
TECPR2	9895	broad.mit.edu	37	14	102931608	102931608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr14:102931608G>C	ENST00000359520.7	+	17	3997	c.3771G>C	c.(3769-3771)atG>atC	p.M1257I	TECPR2_ENST00000558678.1_Missense_Mutation_p.M1257I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1257							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCTGGATAATGATTGAGCCAC	0.502000													13	45					0	0	0.00136819	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													6	47					0	0	0.00116845	0	0
ZNF45	7596	broad.mit.edu	37	19	44418582	44418582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:44418582C>T	ENST00000269973.5	-	10	2096	c.1006G>A	c.(1006-1008)Gca>Aca	p.A336T	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.A336T	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	336					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTGCCACATGCATTGCATTTG	0.453000													21	47					0	0	0.00152264	0	0
OSBP2	23762	broad.mit.edu	37	22	31302140	31302140	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr22:31302140C>A	ENST00000382310.3	+	12	2581	c.2545C>A	c.(2545-2547)Cag>Aag	p.Q849K	OSBP2_ENST00000446658.2_Intron|OSBP2_ENST00000401475.1_Intron|OSBP2_ENST00000332585.6_Intron|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000437268.2_Intron|OSBP2_ENST00000535268.1_Intron			Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	0					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TCCGGGGGAGCAGGCCACAAG	0.697000													16	27					6.31663e-08	2.70549e-07	0.00316338	1	0
BLNK	29760	broad.mit.edu	37	10	97976475	97976475	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr10:97976475G>T	ENST00000224337.5	-	7	682	c.541C>A	c.(541-543)Ccc>Acc	p.P181T	BLNK_ENST00000371176.2_Missense_Mutation_p.P181T|BLNK_ENST00000427367.2_Missense_Mutation_p.P181T|BLNK_ENST00000413476.2_Missense_Mutation_p.P181T	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	181	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCTTCCACGGGGACCACATAA	0.378000													8	27					0.000157383	0.000654383	0.00307968	1	0
SULF2	55959	broad.mit.edu	37	20	46301111	46301111	+	Silent	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr20:46301111C>A	ENST00000359930.4	-	11	2258	c.1407G>T	c.(1405-1407)acG>acT	p.T469T	SULF2_ENST00000467815.1_Silent_p.T469T|SULF2_ENST00000361612.4_Silent_p.T469T|SULF2_ENST00000484875.1_Silent_p.T469T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	469					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.T469T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCAGCTTCCCCGTGGCGTCCT	0.652000													4	31					0.00024832	0.00102649	0.00024832	1	0
ACOT9	23597	broad.mit.edu	37	X	23724804	23724804	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chrX:23724804G>A	ENST00000379303.5	-	11	911	c.783C>T	c.(781-783)gcC>gcT	p.A261A	ACOT9_ENST00000379295.1_Silent_p.A192A|ACOT9_ENST00000336430.7_Silent_p.A252A	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	252					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CAGCGCTGGGGGCCATTTTCA	0.488000													16	44					0	0	0.000566183	0	0
BAHCC1	57597	broad.mit.edu	37	17	79410355	79410355	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr17:79410355C>T	ENST00000307745.7	+	9	1980	c.1980C>T	c.(1978-1980)gcC>gcT	p.A660A																								GCCTCAAGGCCAGCTGCATCC	0.642000													6	14					0	0	0.00116845	0	0
SLC52A3	113278	broad.mit.edu	37	20	745904	745904	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr20:745904A>G	ENST00000381944.3	-	2	756	c.515T>C	c.(514-516)aTa>aCa	p.I172T	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.I172T			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	172					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GCTGTCTGATATCTCAGTGAC	0.577000													15	73					0	0	0.00316338	0	0
TRIO	7204	broad.mit.edu	37	5	14387624	14387624	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr5:14387624G>A	ENST00000344204.4	+	22	3672	c.3648G>A	c.(3646-3648)gaG>gaA	p.E1216E	TRIO_ENST00000509967.2_Silent_p.E1167E|TRIO_ENST00000537187.1_Silent_p.E1216E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1216					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATGCGGCAGAGATAAAAAAAT	0.438000													5	137					0	0	0.000602214	0	0
PRSS27	83886	broad.mit.edu	37	16	2762622	2762622	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr16:2762622C>G	ENST00000302641.3	-	6	926	c.872G>C	c.(871-873)tGa>tCa	p.*291S		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	0					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCGGGGGTCTCACTTCTGGCC	0.652000													2	3					0	0	6.4e-05	0	0
SCN9A	6335	broad.mit.edu	37	2	167060716	167060716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr2:167060716A>G	ENST00000303354.6	-	26	4866	c.4526T>C	c.(4525-4527)aTa>aCa	p.I1509T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1508T|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1497T|SCN9A_ENST00000375387.4_Missense_Mutation_p.I1509T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1508						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAGGTCAAATATACATCCTTG	0.318000													17	24					0	0	0.00400662	0	0
SLC44A2	57153	broad.mit.edu	37	19	10753954	10753954	+	Splice_Site	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:10753954G>A	ENST00000335757.5	+	22	2390		c.e22-1		SLC44A2_ENST00000586078.1_3'UTR|SLC44A2_ENST00000407327.4_Splice_Site			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2						positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTCTCCACAGTGGAGGACCT	0.592000													7	6					0	0	0.00307968	0	0
USP21	27005	broad.mit.edu	37	1	161130531	161130531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:161130531G>A	ENST00000368002.3	+	3	478	c.101G>A	c.(100-102)cGc>cAc	p.R34H	USP21_ENST00000289865.8_Missense_Mutation_p.R34H|USP21_ENST00000368001.1_Missense_Mutation_p.R34H	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	34					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCAGGGCCCGCAGCAAGGAG	0.632000													43	88					0	0	0.00285205	0	0
LRP1	4035	broad.mit.edu	37	12	57592066	57592066	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:57592066C>T	ENST00000243077.3	+	59	9876	c.9410C>T	c.(9409-9411)aCg>aTg	p.T3137M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3137					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTATCGGACGGTGCTGGTC	0.637000													11	32					0	0	0.00185496	0	0
TRPS1	7227	broad.mit.edu	37	8	116631670	116631670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:116631670C>T	ENST00000395715.3	-	3	1232	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	TRPS1_ENST00000519076.1_Missense_Mutation_p.V160M|TRPS1_ENST00000220888.5_Missense_Mutation_p.V206M|TRPS1_ENST00000520276.1_Missense_Mutation_p.V210M|TRPS1_ENST00000519674.1_Missense_Mutation_p.V206M	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	206					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTGTCATTCACCAGTAAGTCA	0.468000									Langer-Giedion syndrome				29	121					0	0	0.0024448	0	0
RGL4	266747	broad.mit.edu	37	22	24034239	24034239	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr22:24034239C>G	ENST00000290691.5	+	1	1192	c.22C>G	c.(22-24)Ctg>Gtg	p.L8V	RGL4_ENST00000401461.1_Intron|GUSBP11_ENST00000417194.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	8					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GCTCACAAATCTGCCTGCAGC	0.612000													23	31					0	0	0.00278032	0	0
PRSS55	203074	broad.mit.edu	37	8	10388887	10388887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:10388887C>T	ENST00000328655.3	+	3	470	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.L144F	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	144	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAGCATCATTCTTCACAAAGA	0.517000													34	155					0	0	0.00327116	0	0
TRBJ2-5	28624	broad.mit.edu	37	7	142494819	142494819	+	RNA	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr7:142494819C>G	ENST00000390417.1	+	0	17																											AGACCCAGTACTTCGGGCCAG	0.726000													9	11					0	0	0.000442599	0	0
SCN8A	6334	broad.mit.edu	37	12	52200796	52200796	+	Silent	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:52200796C>A	ENST00000354534.5	+	27	5704	c.5526C>A	c.(5524-5526)atC>atA	p.I1842I	SCN8A_ENST00000545061.1_Silent_p.I1801I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1842					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGATCGCATCCACTGCTTGG	0.567000													43	110					7.63091e-17	3.50037e-16	0.00170553	1	0
ZNF616	90317	broad.mit.edu	37	19	52618924	52618924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:52618924C>T	ENST00000600228.1	-	4	1754	c.1493G>A	c.(1492-1494)tGt>tAt	p.C498Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GACCTTGCCACATTCATTGCA	0.403000													13	97					0	0	0.00185496	0	0
NAA25	80018	broad.mit.edu	37	12	112518864	112518864	+	Splice_Site	SNP	T	T	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:112518864T>G	ENST00000261745.4	-	5	725	c.477_splice	c.e5+1	p.Q159_splice		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	159						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCATACTCACTTGCATAATTA	0.343000													35	157					0	0	0.00375469	0	0
DLG1	1739	broad.mit.edu	37	3	197009585	197009585	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:197009585C>G	ENST00000346964.2	-	4	472	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	DLG1_ENST00000314062.3_Missense_Mutation_p.E95Q|DLG1_ENST00000357674.4_Missense_Mutation_p.E95Q|DLG1_ENST00000419354.1_Missense_Mutation_p.E95Q|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000392382.2_Missense_Mutation_p.E95Q|DLG1_ENST00000422288.1_Missense_Mutation_p.E95Q|DLG1_ENST00000448528.2_Missense_Mutation_p.E95Q|DLG1_ENST00000450955.1_Missense_Mutation_p.E95Q	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	95					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GGCAGTGTCTCTGAAGTCACA	0.398000													14	150					0	0	0.00400662	0	0
UBC	7316	broad.mit.edu	37	12	125397805	125397805	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:125397805G>C	ENST00000536769.1	-	1	2089	c.513C>G	c.(511-513)ccC>ccG	p.P171P	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.P171P|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	171	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGGTGTCACTGGGCTCCACCT	0.517000													4	84					0	0	0.000442599	0	0
COL11A1	1301	broad.mit.edu	37	1	103480090	103480090	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:103480090G>C	ENST00000358392.2	-	13	1902	c.1585C>G	c.(1585-1587)Caa>Gaa	p.Q529E	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q401E|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q478E|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q517E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	517	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGAATAGCTTGAGCCTGAGCT	0.418000													8	31					0	0	0.000274275	0	0
TADA2B	93624	broad.mit.edu	37	4	7056447	7056447	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr4:7056447C>T	ENST00000310074.7	+	2	1118	c.929C>T	c.(928-930)gCa>gTa	p.A310V	TADA2B_ENST00000515646.1_Missense_Mutation_p.A218V|TADA2B_ENST00000512388.1_Missense_Mutation_p.A235V	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGTACGAGGCAGCGCGGCAT	0.557000													28	36					0	0	0.000720815	0	0
NIPBL	25836	broad.mit.edu	37	5	37057315	37057315	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr5:37057315A>G	ENST00000282516.8	+	43	7790	c.7291A>G	c.(7291-7293)Ata>Gta	p.I2431V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I2431V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2431					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCTCTTGTATATAGCAGACAA	0.358000													13	49					0	0	0.00244969	0	0
RPF1	80135	broad.mit.edu	37	1	84946675	84946675	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:84946675A>G	ENST00000370654.5	+	2	280	c.265A>G	c.(265-267)Aga>Gga	p.R89G	RPF1_ENST00000370656.1_Missense_Mutation_p.R89G	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	89					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	p.E90fs*5(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TAAAAAAGAAAGAGAGGCTCT	0.303000													29	35					0	0	0.00178596	0	0
FCHSD1	89848	broad.mit.edu	37	5	141026991	141026991	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr5:141026991G>A	ENST00000435817.2	-	9	852	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	FCHSD1_ENST00000522126.1_Missense_Mutation_p.H192Y|FCHSD1_ENST00000522783.1_Missense_Mutation_p.H266Y|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	268									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCGCGGTGGGCATGCTCC	0.622000													9	10					0	0	0.000274275	0	0
HERC1	8925	broad.mit.edu	37	15	63904544	63904544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr15:63904544C>T	ENST00000443617.2	-	77	14393	c.14306G>A	c.(14305-14307)cGg>cAg	p.R4769Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4769	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAAAAGCACCCGCTCCTCATT	0.493000													6	44					0	0	0.00116845	0	0
COL22A1	169044	broad.mit.edu	37	8	139642988	139642988	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:139642988C>A	ENST00000303045.6	-	50	4059	c.3613G>T	c.(3613-3615)Gca>Tca	p.A1205S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.A1185S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1205	Collagen-like 11.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATTCCATCTGCCCCCTAAAAA	0.443000										HNSCC(7;0.00092)			35	109					4.90274e-10	2.16512e-09	0.00128727	1	0
SIAH1	6477	broad.mit.edu	37	16	48395697	48395697	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr16:48395697G>A	ENST00000380006.2	-	1	2096	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	LONP2_ENST00000564259.1_3'UTR|SIAH1_ENST00000394725.2_Missense_Mutation_p.R215C|SIAH1_ENST00000356721.3_Missense_Mutation_p.R246C			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	215	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GCTTGCTTGCGTGTTCCTATC	0.443000													14	66					0	0	0.00316338	0	0
POLH	5429	broad.mit.edu	37	6	43582058	43582058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr6:43582058G>A	ENST00000372236.4	+	11	2201	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	POLH_ENST00000535400.1_Missense_Mutation_p.E574K|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	636					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGTGCCCTGTGAGAAGTGTGG	0.502000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				32	136					0	0	0.00283554	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686959	151686959	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr6:151686959G>C	ENST00000325144.4	-	3	1382	c.1242C>G	c.(1240-1242)agC>agG	p.S414R		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AAGTGTCGATGCTCTGGTTGA	0.512000													7	49					0	0	0.00307968	0	0
KLHL1	57626	broad.mit.edu	37	13	70535472	70535472	+	Missense_Mutation	SNP	G	G	A	rs139916031		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr13:70535472G>A	ENST00000377844.4	-	3	1544	c.785C>T	c.(784-786)gCt>gTt	p.A262V	KLHL1_ENST00000545028.1_Missense_Mutation_p.A69V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	262	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTCCCAGAGAGCATTGGGGTC	0.388000													18	33					0	0	0.00229938	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579406	44579406	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr7:44579406C>A	ENST00000289547.4	-	2	645	c.590G>T	c.(589-591)tGc>tTc	p.C197F	NPC1L1_ENST00000381160.3_Missense_Mutation_p.C197F|NPC1L1_ENST00000423141.1_Missense_Mutation_p.C197F|NPC1L1_ENST00000546276.1_Missense_Mutation_p.C197F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	197					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGGGCATTGCAAAGGGCAGA	0.637000													25	66					5.35047e-06	2.2644e-05	0.00332997	1	0
VEZT	55591	broad.mit.edu	37	12	95694417	95694417	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:95694417G>C	ENST00000436874.1	+	12	2413	c.2308G>C	c.(2308-2310)Gaa>Caa	p.E770Q	VEZT_ENST00000261219.6_Missense_Mutation_p.E722Q|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	770						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACAAATAATAGAAGAAAATAA	0.383000													3	32					0	0	6.4e-05	0	0
LUZP4	51213	broad.mit.edu	37	X	114540929	114540929	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chrX:114540929A>G	ENST00000371920.3	+	4	509	c.502A>G	c.(502-504)Aga>Gga	p.R168G	LUZP4_ENST00000451986.2_Missense_Mutation_p.R86G	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	168						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CCACTTAGAGAGATCTCTTTC	0.448000													41	18					0	0	0.00148497	0	0
A1BG	1	broad.mit.edu	37	19	58862944	58862944	+	Missense_Mutation	SNP	G	G	T	rs117988784	by1000genomes	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:58862944G>T	ENST00000263100.3	-	5	784	c.723C>A	c.(721-723)ttC>ttA	p.F241L	A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	241	Ig-like V-type 3.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GCCGTAGCTGGAAGTCCACTC	0.637000													15	23					1.62849e-17	7.56769e-17	0.00400662	1	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													3	3					0	0	0.00024832	0	0
POU4F2	5458	broad.mit.edu	37	4	147560567	147560567	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr4:147560567T>A	ENST00000281321.3	+	1	523	c.275T>A	c.(274-276)cTt>cAt	p.L92H		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	92					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AGAGCCTGTCTTCCAACCCCA	0.622000													14	22					0	0	0.00244969	0	0
MYCBP2	23077	broad.mit.edu	37	13	77742684	77742684	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr13:77742684G>C	ENST00000407578.2	-	40	6259	c.5993C>G	c.(5992-5994)tCg>tGg	p.S1998W	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960W|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1960W	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTATCTGTCGACTGATTAGG	0.493000													18	72					0	0	0.00074312	0	0
GDF3	9573	broad.mit.edu	37	12	7843292	7843292	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:7843292G>T	ENST00000329913.3	-	2	324	c.277C>A	c.(277-279)Ctt>Att	p.L93I		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	93					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTTGGGTAAAGAAAGAAACCT	0.403000													28	56					4.87955e-14	2.18199e-13	0.000878237	1	0
SLC25A6	293	broad.mit.edu	37	X	1508618	1508618	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chrX:1508618G>C	ENST00000381401.5	-	2	828	c.114C>G	c.(112-114)gtC>gtG	p.V38V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	38					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TGGCGTGCTGGACCTGGGGGA	0.587000													26	199					0	0	0.00178596	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68150679	68150679	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:68150679C>G	ENST00000262215.3	-	22	3577	c.3188G>C	c.(3187-3189)gGa>gCa	p.G1063A	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.G517A|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1063					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGGTTTCACTCCAGTTCCTAT	0.393000													18	37					0	0	0.000566183	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842012	8842012	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:8842012A>C	ENST00000324060.2	+	1	697	c.622A>C	c.(622-624)Atg>Ctg	p.M208L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGATCCTAATGCTCCCTCT	0.582000													34	51					0	0	0.00283554	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767248	77767248	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:77767248G>A	ENST00000521891.2	+	10	8539	c.8091G>A	c.(8089-8091)cgG>cgA	p.R2697R	ZFHX4_ENST00000518282.1_Silent_p.R2671R|ZFHX4_ENST00000050961.6_Silent_p.R2652R|ZFHX4_ENST00000455469.2_Silent_p.R2652R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2652						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCGCTCTCGGCACTGGAATG	0.512000										HNSCC(33;0.089)			17	60					0	0	0.000566183	0	0
NLRP7	199713	broad.mit.edu	37	19	55441964	55441964	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:55441964G>T	ENST00000588756.1	-	11	3199	c.2713C>A	c.(2713-2715)Ctc>Atc	p.L905I	NLRP7_ENST00000592784.1_Missense_Mutation_p.L905I|NLRP7_ENST00000448121.2_Missense_Mutation_p.L877I|NLRP7_ENST00000590030.1_Missense_Mutation_p.L905I|NLRP7_ENST00000446217.1_Missense_Mutation_p.L933I|NLRP7_ENST00000340844.2_Missense_Mutation_p.L905I|NLRP7_ENST00000328092.5_Missense_Mutation_p.L877I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	905							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGTTTGTGAGGCTGCAGGCT	0.463000													50	66					3.31993e-32	1.56322e-31	0.00361006	1	0
ZNF564	163050	broad.mit.edu	37	19	12639154	12639154	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:12639154A>C	ENST00000339282.7	-	3	351	c.155T>G	c.(154-156)aTt>aGt	p.I52S	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCAATCTTCAATGCTCTGGTC	0.299000													5	32					0	0	0.00116845	0	0
ILDR1	286676	broad.mit.edu	37	3	121712107	121712107	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:121712107G>A	ENST00000273691.3	-	6	1462	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ILDR1_ENST00000344209.5_Missense_Mutation_p.R497C|ILDR1_ENST00000393631.1_Missense_Mutation_p.R408C|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.R465C	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	497	Arg-rich.		R -> Q (in DFNB42; uncertain pathological significance).			cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGCGAGCCGCGGCGGTGGGCC	0.632000													10	27					0	0	0.000673444	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	58					0	0	0.00198382	0	0
SAMM50	25813	broad.mit.edu	37	22	44392249	44392249	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr22:44392249A>G	ENST00000350028.4	+	15	1553	c.1396A>G	c.(1396-1398)Ata>Gta	p.I466V	SAMM50_ENST00000396202.3_Missense_Mutation_p.I256V	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	466					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGGAGCTGGGATAAGGTTCCT	0.592000													4	320					0	0	0.00024832	0	0
CD97	976	broad.mit.edu	37	19	14513676	14513676	+	Splice_Site	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:14513676T>C	ENST00000242786.5	+	12	1529		c.e12+2		CD97_ENST00000358600.3_Splice_Site|CD97_ENST00000357355.3_Splice_Site|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule						cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTGCCAAGGTCTCTGCTCAC	0.562000													18	45					0	0	0.00152264	0	0
COG4	25839	broad.mit.edu	37	16	70551611	70551611	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr16:70551611T>C	ENST00000323786.5	-	3	308	c.287A>G	c.(286-288)aAg>aGg	p.K96R	COG4_ENST00000393612.4_Missense_Mutation_p.K92R|COG4_ENST00000564653.1_Missense_Mutation_p.K96R	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	92	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGCCAGCTGCTTTGCATCTCC	0.443000													32	62					0	0	0.00178596	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54106918	54106918	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:54106918G>C	ENST00000548263.1	-	14	1912	c.1864C>G	c.(1864-1866)Cct>Gct	p.P622A	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P537A|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.P622A|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P621A			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	622	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCAGTTCAGGAAGCAGTAAG	0.577000													31	69					0	0	0.00283554	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	39					0	0	0.00024832	0	0
IL12RB1	3594	broad.mit.edu	37	19	18191667	18191667	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:18191667C>T	ENST00000600835.1	-	5	687	c.384G>A	c.(382-384)gaG>gaA	p.E128E	IL12RB1_ENST00000322153.6_Silent_p.E128E|IL12RB1_ENST00000430026.2_Silent_p.E128E|IL12RB1_ENST00000593993.1_Silent_p.E128E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	128	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCAGGGTCACCTCAGGAGACT	0.582000													14	76					0	0	0.00316338	0	0
PC	5091	broad.mit.edu	37	11	66617734	66617734	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr11:66617734T>C	ENST00000393960.1	-	19	2956	c.2675A>G	c.(2674-2676)aAg>aGg	p.K892R	PC_ENST00000393958.2_Missense_Mutation_p.K892R|PC_ENST00000529047.1_Missense_Mutation_p.K12R|PC_ENST00000393955.2_Missense_Mutation_p.K892R	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	892					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CACATAGGCCTTCTTGACCTC	0.602000													11	41					0	0	0.000978159	0	0
IFRD2	7866	broad.mit.edu	37	3	50330076	50330076	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:50330076C>A	ENST00000336089.4	-	2	228	c.229G>T	c.(229-231)Ggc>Tgc	p.G77C	IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	82							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCGCCCCAGCCCCGCGTCGGG	0.657000													20	32					2.94398e-08	1.28415e-07	0.000958276	1	0
COL5A2	1290	broad.mit.edu	37	2	189906418	189906418	+	Splice_Site	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr2:189906418C>T	ENST00000374866.3	-	50	3801	c.3525_splice	c.e50-1	p.G1176_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1176					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCTGGAGGACCCTGCAAGAA	0.448000													29	74					0	0	0.000878237	0	0
CTNNA2	1496	broad.mit.edu	37	2	80097053	80097053	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr2:80097053A>G	ENST00000466387.1	+	9	1301	c.577A>G	c.(577-579)Aga>Gga	p.R193G	CTNNA2_ENST00000496558.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R193G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R227G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R193G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	193					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCAGCAAGAAGACAACAGGT	0.403000													16	68					0	0	0.000958276	0	0
PGK2	5232	broad.mit.edu	37	6	49754449	49754449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr6:49754449C>T	ENST00000304801.3	-	1	604	c.452G>A	c.(451-453)cGa>cAa	p.R151Q		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	151					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGTGATGCTCGGAAGGCTTC	0.498000													19	83					0	0	0.00121646	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74696051	74696051	+	Silent	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr5:74696051C>G	ENST00000380494.5	-	11	1766	c.1473G>C	c.(1471-1473)ggG>ggC	p.G491G	COL4A3BP_ENST00000405807.4_Silent_p.G363G|COL4A3BP_ENST00000261415.7_Silent_p.G363G	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	363	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTATGTGTCCCCACAGAAG	0.363000													7	10					0	0	0.00307968	0	0
GCLC	2729	broad.mit.edu	37	6	53373486	53373486	+	Silent	SNP	G	G	T	rs17879847	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr6:53373486G>T	ENST00000229416.6	-	8	1335	c.852C>A	c.(850-852)ccC>ccA	p.P284P		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	284					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	p.P284P(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CTCGGTAAAAGGGAGATGCAG	0.443000													13	95					3.27435e-08	1.41095e-07	0.00244969	1	0
CPSF6	11052	broad.mit.edu	37	12	69656338	69656338	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:69656338A>G	ENST00000435070.2	+	9	1765	c.1655A>G	c.(1654-1656)tAg>tGg	p.*552W	CPSF6_ENST00000266679.8_Nonstop_Mutation_p.*589W|CPSF6_ENST00000551516.1_Missense_Mutation_p.R55G|CPSF6_ENST00000456847.3_Nonstop_Mutation_p.*479W	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	0					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CGTCATCGTTAGAAGGTGGGT	0.443000													6	33					0	0	0.00116845	0	0
RSPH6A	81492	broad.mit.edu	37	19	46299167	46299167	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:46299167T>C	ENST00000221538.3	-	6	2256	c.2114A>G	c.(2113-2115)gAg>gGg	p.E705G	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_Missense_Mutation_p.E441G	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ctcctcgccctcctcctcctc	0.592000													3	126					0	0	0.00307968	0	0
RNF19A	25897	broad.mit.edu	37	8	101299760	101299760	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:101299760C>T	ENST00000519449.1	-	3	959	c.643G>A	c.(643-645)Gat>Aat	p.D215N	RNF19A_ENST00000341084.2_Missense_Mutation_p.D215N	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	215					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CACCTACAATCAGGATCTGCA	0.358000													28	59					0	0	0.0024448	0	0
TTN	7273	broad.mit.edu	37	2	179528604	179528604	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr2:179528604G>A	ENST00000589042.1	-	170	36614	c.36390C>T	c.(36388-36390)atC>atT	p.I12130I	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10279	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTCGCGGATAACCTCTT	0.423000													84	202					0	0	0.00361006	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	73					0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13719088	13719088	+	Silent	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr5:13719088A>G	ENST00000265104.4	-	72	12506	c.12402T>C	c.(12400-12402)gcT>gcC	p.A4134A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4134	AAA 6 (By similarity).		A -> V (in dbSNP:rs30168).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTGCTTATGAGCCTCGGTGG	0.468000									Kartagener syndrome				25	115					0	0	0.00127121	0	0
ZNF318	24149	broad.mit.edu	37	6	43322436	43322436	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr6:43322436G>A	ENST00000361428.2	-	4	2713	c.2636C>T	c.(2635-2637)tCt>tTt	p.S879F	ZNF318_ENST00000318149.3_Missense_Mutation_p.S879F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	879					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCTCATCAGAGATCTTCTC	0.438000													24	43					0	0	0.00278032	0	0
MDH1B	130752	broad.mit.edu	37	2	207605810	207605810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr2:207605810G>A	ENST00000374412.3	-	10	1702	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	MDH1B_ENST00000454776.2_Missense_Mutation_p.P476L|MDH1B_ENST00000449792.1_Missense_Mutation_p.P378L	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	476					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTCTTCATCAGGGACCAGATC	0.338000													20	25					0	0	0.00121646	0	0
SVIL	6840	broad.mit.edu	37	10	29824982	29824982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr10:29824982G>C	ENST00000375398.2	-	9	1293	c.844C>G	c.(844-846)Cat>Gat	p.H282D	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.H282D			O95425	SVIL_HUMAN	supervillin	282					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AACCACTCATGTTTGGGTTTC	0.433000											OREG0020098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	49					0	0	0.000442599	0	0
CD40	958	broad.mit.edu	37	20	44756788	44756788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr20:44756788C>T	ENST00000372285.3	+	7	643	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.S170L	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	191					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TCCCCAGGATCGGCTGAGAGC	0.547000									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	102					0	0	0.000566183	0	0
SHOX2	6474	broad.mit.edu	37	3	157815817	157815817	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:157815817C>T	ENST00000490689.2	-	5	2105	c.572G>A	c.(571-573)tGa>tAa	p.*191*	SHOX2_ENST00000389589.4_Silent_p.*356*|SHOX2_ENST00000441443.2_Silent_p.*191*|SHOX2_ENST00000425436.3_Silent_p.*332*|SHOX2_ENST00000483851.2_Silent_p.*320*			O60902	SHOX2_HUMAN	short stature homeobox 2	0					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.*356L(1)|p.*191L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGTTGGCGTCACAGACCCAG	0.657000													141	470					0	0	0.00361006	0	0
LTBP1	4052	broad.mit.edu	37	2	33412051	33412051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr2:33412051C>T	ENST00000404816.2	+	6	1683	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q444*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.Q118*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	444					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAACTTTATCAGCATTCCCA	0.512000													18	50					0	0	0.000566183	0	0
MYOM2	9172	broad.mit.edu	37	8	2040177	2040177	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:2040177T>C	ENST00000262113.4	+	16	1973	c.1832T>C	c.(1831-1833)gTc>gCc	p.V611A	MYOM2_ENST00000523438.1_Missense_Mutation_p.V36A	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	611					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGAAAAGTTGTCCCTTCTGCT	0.557000													103	144					0	0	0.00361006	0	0
COMT	1312	broad.mit.edu	37	22	19950331	19950331	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr22:19950331C>T	ENST00000361682.6	+	3	664	c.282C>T	c.(280-282)gaC>gaT	p.D94D	COMT_ENST00000407537.1_Silent_p.D44D|COMT_ENST00000403184.1_Silent_p.D94D|COMT_ENST00000406520.3_Silent_p.D94D|COMT_ENST00000403710.1_Silent_p.D94D|COMT_ENST00000449653.1_Silent_p.D44D	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	94					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	ACGTGGGCGACAAGAAAGGTG	0.612000													7	35					0	0	0.00198382	0	0
TMEM106B	54664	broad.mit.edu	37	7	12263954	12263954	+	Silent	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr7:12263954A>G	ENST00000396667.2	+	5	706	c.384A>G	c.(382-384)gtA>gtG	p.V128V	TMEM106B_ENST00000396668.3_Silent_p.V128V	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	128						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACATTGGTGTAAAATCAGCCT	0.343000													44	105					0	0	0.00195071	0	0
FCRL4	83417	broad.mit.edu	37	1	157557696	157557696	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:157557696T>A	ENST00000271532.1	-	4	656	c.521A>T	c.(520-522)aAt>aTt	p.N174I	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	174	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAATACATCATTCTCGTCTCC	0.318000													6	19					0	0	0.00116845	0	0
SLC25A13	10165	broad.mit.edu	37	7	95775995	95775995	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr7:95775995T>A	ENST00000416240.2	-	14	1518	c.1328A>T	c.(1327-1329)cAg>cTg	p.Q443L	SLC25A13_ENST00000542654.1_Missense_Mutation_p.Q334L|SLC25A13_ENST00000265631.5_Missense_Mutation_p.Q442L	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	442					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GAAAATCACCTGGGAGCCTCC	0.433000													63	73					0	0	0.00361006	0	0
TEX10	54881	broad.mit.edu	37	9	103090242	103090242	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr9:103090242T>C	ENST00000374902.4	-	8	1804	c.1628A>G	c.(1627-1629)tAt>tGt	p.Y543C	TEX10_ENST00000535814.1_Missense_Mutation_p.Y546C	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	543						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTACTACGATATCTTAGAAA	0.338000													4	9					0	0	0.000602214	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735807	12735807	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chrX:12735807G>A	ENST00000380682.1	+	16	3368	c.2862G>A	c.(2860-2862)ccG>ccA	p.P954P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	954					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCGAGTTCCCGGCCTCCAAGA	0.612000													76	42					0	0	0.00361006	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263365	140263365	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr5:140263365G>A	ENST00000289272.2	+	1	1512	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.L504L|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGCGCTGTCGAGCTACG	0.672000													37	61					0	0	0.000953801	0	0
CDH7	1005	broad.mit.edu	37	18	63547834	63547834	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr18:63547834C>T	ENST00000397968.2	+	12	2488	c.2062C>T	c.(2062-2064)Cca>Tca	p.P688S	CDH7_ENST00000323011.3_Missense_Mutation_p.P688S	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	688					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGATGTGACTCCAGAAATTCA	0.478000													13	42					0	0	0.00136819	0	0
SRRM2	23524	broad.mit.edu	37	16	2817671	2817671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr16:2817671C>G	ENST00000301740.8	+	11	7691	c.7142C>G	c.(7141-7143)aCc>aGc	p.T2381S	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2381	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAAACCTCACCAGCCCCAGG	0.632000													34	87					0	0	0.00209593	0	0
PRDM16	63976	broad.mit.edu	37	1	3322204	3322204	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:3322204C>T	ENST00000378398.3	+	9	1263	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.P394L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P393L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P393L|PRDM16_ENST00000378391.2_Missense_Mutation_p.P393L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P394L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P393L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	393					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACGGTGAAGCCTTTCATATGT	0.701000			T	EVI1	"""MDS, AML"""								14	76					0	0	0.00316338	0	0
HAS1	3036	broad.mit.edu	37	19	52222698	52222698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:52222698C>T	ENST00000540069.2	-	2	520	c.460G>A	c.(460-462)Gag>Aag	p.E154K	HAS1_ENST00000222115.1_Missense_Mutation_p.E155K|HAS1_ENST00000601714.1_Missense_Mutation_p.E162K|HAS1_ENST00000594621.1_Missense_Mutation_p.E9K			Q92839	HAS1_HUMAN	hyaluronan synthase 1	155					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCGGGGTCCTCGTCAGCGAAG	0.711000													3	3					0	0	6.4e-05	0	0
XPO6	23214	broad.mit.edu	37	16	28167615	28167615	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr16:28167615T>C	ENST00000304658.5	-	7	1377	c.877A>G	c.(877-879)Aac>Gac	p.N293D	XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.N279D	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	293					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGCTGCCGTTAACTGACGCC	0.577000													29	67					0	0	0.000878237	0	0
TRO	7216	broad.mit.edu	37	X	54955857	54955857	+	Silent	SNP	T	T	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chrX:54955857T>G	ENST00000173898.7	+	12	2812	c.2700T>G	c.(2698-2700)ggT>ggG	p.G900G	TRO_ENST00000420798.2_Silent_p.G431G|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.G503G|TRO_ENST00000319167.8_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	900	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCTGTTTTGGTGGCTCTCCCA	0.557000													3	51					0	0	6.4e-05	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989681	15989681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:15989681C>T	ENST00000221700.5	-	13	1558	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	CYP4F2_ENST00000592328.1_Missense_Mutation_p.R488H	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	488					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACGCGGAAGCGCAGCAGCGT	0.677000													9	68					0	0	0.000274275	0	0
OR5H14	403273	broad.mit.edu	37	3	97868655	97868655	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:97868655C>G	ENST00000437310.1	+	1	486	c.426C>G	c.(424-426)atC>atG	p.I142M		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GACTGTGCATCCGGCTATTAA	0.393000													16	162					0	0	0.00400662	0	0
CHKA	1119	broad.mit.edu	37	11	67821473	67821473	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr11:67821473C>T	ENST00000265689.4	-	12	1382	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	CHKA_ENST00000356135.5_Silent_p.K434K|CHKA_ENST00000533728.1_5'UTR	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	452					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	CAAGCTTCCTCTTCTGGTGGA	0.577000													5	16					0	0	0.00116845	0	0
SAT1	6303	broad.mit.edu	37	X	23801827	23801827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chrX:23801827G>A	ENST00000379251.3	+	2	298	c.119G>A	c.(118-120)gGt>gAt	p.G40D	SAT1_ENST00000379254.1_Splice_Site|SAT1_ENST00000379253.3_Splice_Site|SAT1_ENST00000489394.1_Splice_Site|SAT1_ENST00000379270.4_Splice_Site			P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	39	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	ACTGAAAAAGGTAATTCAACA	0.488000													10	11					0	0	0.000673444	0	0
AZI2	64343	broad.mit.edu	37	3	28365639	28365639	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:28365639C>T	ENST00000479665.1	-	8	1604	c.1073G>A	c.(1072-1074)aGt>aAt	p.S358N	AZI2_ENST00000295748.3_5'UTR|CMC1_ENST00000466830.1_3'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	358						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TGCTGTCTCACTTGATTTAGG	0.398000													32	43					0	0	0.00209593	0	0
SEMA4G	57715	broad.mit.edu	37	10	102740948	102740948	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr10:102740948A>G	ENST00000210633.3	+	13	1745	c.1667A>G	c.(1666-1668)gAg>gGg	p.E556G	SEMA4G_ENST00000517724.1_Missense_Mutation_p.E556G|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E551G|MRPL43_ENST00000318325.2_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	551	PSI.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CAGGACATAGAGAGAGGAAAT	0.483000													7	56					0	0	0.00198382	0	0
NLGN1	22871	broad.mit.edu	37	3	173996813	173996813	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:173996813A>T	ENST00000457714.1	+	6	1451	c.1022A>T	c.(1021-1023)gAa>gTa	p.E341V	NLGN1_ENST00000401917.3_Missense_Mutation_p.E381V|NLGN1_ENST00000361589.4_Missense_Mutation_p.E341V|NLGN1_ENST00000545397.1_Missense_Mutation_p.E341V|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	358					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCTTACAAAGAACTTGTTGAC	0.423000													43	123					0	0	0.00170553	0	0
SLC38A1	81539	broad.mit.edu	37	12	46592498	46592498	+	Silent	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:46592498T>C	ENST00000398637.5	-	14	1726	c.1032A>G	c.(1030-1032)aaA>aaG	p.K344K	SLC38A1_ENST00000552197.1_Silent_p.K344K|SLC38A1_ENST00000546893.1_Silent_p.K344K|SLC38A1_ENST00000549049.1_Silent_p.K344K|SLC38A1_ENST00000439706.1_Silent_p.K344K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	344					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TACTCTGATATTTGTGAAGGA	0.428000													16	42					0	0	0.000566183	0	0
ATP13A3	79572	broad.mit.edu	37	3	194152587	194152587	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:194152587T>A	ENST00000439040.1	-	22	3071	c.2280A>T	c.(2278-2280)agA>agT	p.R760S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R760S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	760					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTCCACAATCTCTGGCCACAG	0.353000													10	44					0	0	0.000442599	0	0
ALG1L2	644974	broad.mit.edu	37	3	129817127	129817127	+	RNA	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:129817127A>C	ENST00000507643.1	+	0	709							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CCAGTTCCGGAAGAACCTGCG	0.522000													3	79					0	0	6.4e-05	0	0
ZNF844	284391	broad.mit.edu	37	19	12186456	12186456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:12186456G>A	ENST00000439326.3	+	4	696	c.521G>A	c.(520-522)tGt>tAt	p.C174Y	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGTAAAGAATGTGGAAAAACC	0.383000													12	20					0	0	0.000978159	0	0
NFE2L1	4779	broad.mit.edu	37	17	46128746	46128746	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr17:46128746C>A	ENST00000362042.3	+	2	882	c.266C>A	c.(265-267)gCc>gAc	p.A89D	NFE2L1_ENST00000357480.5_Missense_Mutation_p.A89D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.A89D|NFE2L1_ENST00000585291.1_Missense_Mutation_p.A89D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	89					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGTGAGGGCCCTGGACAGG	0.582000													25	94					3.08376e-08	1.33692e-07	0.00332997	1	0
PRKCH	5583	broad.mit.edu	37	14	61997130	61997130	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr14:61997130C>A	ENST00000556347.1	+	2	92	c.92C>A	c.(91-93)tCc>tAc	p.S31Y	PRKCH_ENST00000332981.5_Silent_p.L526L|PRKCH_ENST00000555082.1_Silent_p.L365L																							CACAGATCCTCCAGGAAATGC	0.483000													30	138					3.99451e-17	1.84422e-16	0.00178596	1	0
TUBB4B	10383	broad.mit.edu	37	9	140137973	140137973	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr9:140137973G>A	ENST00000340384.4	+	4	1451	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	435					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										GGAGGAGGGCGAGTTCGAGGA	0.587000													48	45					0	0	0.00361006	0	0
KCNB2	9312	broad.mit.edu	37	8	73850088	73850088	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:73850088G>C	ENST00000523207.1	+	3	3086	c.2498G>C	c.(2497-2499)tGc>tCc	p.C833S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	833					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGCCCAAATTGCTTTGCAGAT	0.537000													21	51					0	0	0.00229938	0	0
OR5M9	390162	broad.mit.edu	37	11	56230205	56230205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr11:56230205G>A	ENST00000279791.1	-	1	672	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R225C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GAGCGCATGCGTAGCACAGCT	0.478000													7	10					0	0	0.00307968	0	0
TMEM192	201931	broad.mit.edu	37	4	166000814	166000814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr4:166000814G>C	ENST00000306480.5	-	6	957	c.812C>G	c.(811-813)aCg>aGg	p.T271R	TMEM192_ENST00000506087.1_Missense_Mutation_p.T267R	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	271						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		AGCCTCTCACGTTCTACTTGG	0.527000													6	17					0	0	0.00116845	0	0
VPS11	55823	broad.mit.edu	37	11	118938701	118938701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr11:118938701G>A	ENST00000300793.6	+	1	209	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	56					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GACTCAGGCCGAGGGAGCCTG	0.577000													4	10					0	0	0.00024832	0	0
FBN3	84467	broad.mit.edu	37	19	8131097	8131097	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:8131097C>T	ENST00000600128.1	-	64	8550	c.8136G>A	c.(8134-8136)ctG>ctA	p.L2712L	FBN3_ENST00000270509.2_Silent_p.L2712L|FBN3_ENST00000601739.1_Silent_p.L2712L			Q75N90	FBN3_HUMAN	fibrillin 3	2712						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGAGAGGTTCAGGCCCAAGG	0.662000													8	15					0	0	0.000274275	0	0
RGS6	9628	broad.mit.edu	37	14	72925015	72925015	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr14:72925015A>C	ENST00000553530.1	+	5	479	c.272A>C	c.(271-273)cAg>cCg	p.Q91P	RGS6_ENST00000556437.1_Missense_Mutation_p.Q91P|RGS6_ENST00000343854.6_Missense_Mutation_p.Q91P|RGS6_ENST00000404301.2_Missense_Mutation_p.Q91P|RGS6_ENST00000402788.2_Missense_Mutation_p.Q91P|RGS6_ENST00000406236.4_Missense_Mutation_p.Q91P|RGS6_ENST00000355512.6_Missense_Mutation_p.Q91P|RGS6_ENST00000553525.1_Missense_Mutation_p.Q91P|RGS6_ENST00000407322.4_Missense_Mutation_p.Q91P|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000555571.1_Missense_Mutation_p.Q91P|RGS6_ENST00000434263.2_Missense_Mutation_p.Q22P	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	91	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATCGCTGCCCAGGGCTACATC	0.458000													26	53					0	0	0.00127121	0	0
NEB	4703	broad.mit.edu	37	2	152586143	152586143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr2:152586143C>T	ENST00000397345.3	-	4	266	c.64G>A	c.(64-66)Gag>Aag	p.E22K	NEB_ENST00000604864.1_Missense_Mutation_p.E22K|NEB_ENST00000409198.1_Missense_Mutation_p.E22K|NEB_ENST00000172853.10_Missense_Mutation_p.E22K|NEB_ENST00000427231.2_Missense_Mutation_p.E22K|NEB_ENST00000603639.1_Missense_Mutation_p.E22K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	22					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCGGCACCTCTTCGTAAACC	0.493000													42	65					0	0	0.00321405	0	0
SLC27A5	10998	broad.mit.edu	37	19	59011917	59011917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:59011917G>A	ENST00000263093.2	-	5	1448	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R363C	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	447					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCCCGCAGCGCCCCACATAG	0.602000													10	32					0	0	0.000673444	0	0
FAT1	2195	broad.mit.edu	37	4	187627774	187627774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr4:187627774G>A	ENST00000441802.2	-	2	3417	c.3208C>T	c.(3208-3210)Cga>Tga	p.R1070*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1070	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGAGTATCGGATCTCCCCA	0.443000										HNSCC(5;0.00058)			49	70					0	0	0.00361006	0	0
ITPA	3704	broad.mit.edu	37	20	3202541	3202541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr20:3202541C>T	ENST00000380113.3	+	7	658	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	ITPA_ENST00000399838.3_Nonsense_Mutation_p.Q115*|ITPA_ENST00000455664.1_Nonsense_Mutation_p.Q139*|ITPA_ENST00000483354.1_3'UTR	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	156					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						CCCCTGCTTTCAGCCTGATGG	0.617000													9	41					0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9049680	9049680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:9049680C>G	ENST00000397910.4	-	5	32154	c.31951G>C	c.(31951-31953)Gca>Cca	p.A10651P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10653	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A6284S(1)|p.A10651S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCAGTGCATCTAGTTCA	0.473000													14	63					0	0	0.00185496	0	0
MTR	4548	broad.mit.edu	37	1	237060420	237060420	+	Splice_Site	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:237060420T>C	ENST00000366577.5	+	32	4105		c.e32+2		MTR_ENST00000535889.1_Splice_Site|MTR_ENST00000470570.1_Splice_Site	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGGATCAGGTAAGCTAGCTG	0.403000													19	99					0	0	0.00074312	0	0
OSGIN2	734	broad.mit.edu	37	8	90926441	90926441	+	Splice_Site	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:90926441G>A	ENST00000451899.2	+	3	596	c.336_splice	c.e3+1	p.Q112_splice	OSGIN2_ENST00000520659.1_Splice_Site_p.Q112_splice|OSGIN2_ENST00000297438.2_Splice_Site_p.Q68_splice	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	68					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTGTTGATCAGGTATTATTTC	0.274000													9	29					0	0	0.000274275	0	0
ZNF470	388566	broad.mit.edu	37	19	57089845	57089845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:57089845G>A	ENST00000330619.8	+	6	2734	c.2048G>A	c.(2047-2049)gGa>gAa	p.G683E	ZNF470_ENST00000391709.3_Missense_Mutation_p.G683E|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	683					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AAAGAATGTGGAAAAGCCTTC	0.458000													11	47					0	0	0.000978159	0	0
CASZ1	54897	broad.mit.edu	37	1	10719786	10719786	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:10719786A>T	ENST00000377022.3	-	6	1630	c.1313T>A	c.(1312-1314)aTc>aAc	p.I438N	CASZ1_ENST00000344008.5_Missense_Mutation_p.I438N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCCGTGGTGATGGAGTCTGT	0.632000													13	60					0	0	0.00244969	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71555671	71555671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr9:71555671C>G	ENST00000265382.3	+	14	1772	c.1467C>G	c.(1465-1467)caC>caG	p.H489Q	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.H489Q	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	489						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TCAATGAGCACTATCCACACG	0.478000													33	56					0	0	0.0024448	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237076	30237076	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chrX:30237076A>G	ENST00000378988.4	+	2	480	c.379A>G	c.(379-381)Aaa>Gaa	p.K127E		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	127	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GTACAAGTATAAAATAAAAAA	0.473000													5	2					0	0	0.00116845	0	0
ERC1	23085	broad.mit.edu	37	12	1289706	1289706	+	Splice_Site	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr12:1289706A>C	ENST00000397203.2	+	9	2144	c.1737_splice	c.e9-1	p.I580_splice	ERC1_ENST00000543086.3_Splice_Site_p.I552_splice|ERC1_ENST00000360905.4_Splice_Site_p.I580_splice|ERC1_ENST00000546231.2_Splice_Site_p.I580_splice|ERC1_ENST00000355446.5_Splice_Site_p.I580_splice|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Splice_Site_p.I580_splice			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	580					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GTACATTTAGATTGAAAATCT	0.368000													17	32					0	0	0.000566183	0	0
RYR3	6263	broad.mit.edu	37	15	33955093	33955093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr15:33955093G>T	ENST00000389232.4	+	35	5432	c.5362G>T	c.(5362-5364)Gag>Tag	p.E1788*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E1788*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1788	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCCGGCAAGGAGGCTCCTGT	0.562000													29	179					1.30897e-18	6.12289e-18	0.00178596	1	0
LMBRD2	92255	broad.mit.edu	37	5	36124341	36124341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr5:36124341G>C	ENST00000296603.4	-	7	1236	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	258						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTATACTTGATGCTTTCAT	0.269000													5	30					0	0	0.00198382	0	0
PROCR	10544	broad.mit.edu	37	20	33764086	33764086	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr20:33764086G>A	ENST00000216968.4	+	3	520	c.438G>A	c.(436-438)gaG>gaA	p.E146E	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	146					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TCCGGCCGGAGAGAGCCTTGT	0.607000													40	76					0	0	0.00148497	0	0
ZNF547	284306	broad.mit.edu	37	19	57879930	57879930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr19:57879930G>A	ENST00000282282.3	+	2	157	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	AC003002.4_ENST00000597658.1_Missense_Mutation_p.E3K	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCGATGGCAGAAATGAACCC	0.493000													7	56					0	0	0.00198382	0	0
CSMD1	64478	broad.mit.edu	37	8	2820010	2820010	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:2820010G>A	ENST00000520002.1	-	62	10164	c.9609C>T	c.(9607-9609)agC>agT	p.S3203S	CSMD1_ENST00000542608.1_Silent_p.S3025S|CSMD1_ENST00000537824.1_Silent_p.S3202S|CSMD1_ENST00000602557.1_Silent_p.S3203S|CSMD1_ENST00000602723.1_Silent_p.S3026S|CSMD1_ENST00000400186.3_Silent_p.S3026S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3203	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGTATGCCGCTCCACGTGC	0.468000													7	47					0	0	0.00307968	0	0
LCP1	3936	broad.mit.edu	37	13	46716545	46716545	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr13:46716545A>C	ENST00000398576.2	-	16	1772	c.1384T>G	c.(1384-1386)Tac>Gac	p.Y462D	LCP1_ENST00000435666.2_Missense_Mutation_p.Y31D|LCP1_ENST00000323076.2_Missense_Mutation_p.Y462D			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	462	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTACCGCGTAGTTACAATTC	0.383000			T	BCL6	NHL								10	28					0	0	0.000673444	0	0
ISL2	64843	broad.mit.edu	37	15	76629267	76629267	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr15:76629267G>A	ENST00000290759.4	+	1	203	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GGGTGCTATGGGTGATCATTC	0.443000													52	330					0	0	0.00361006	0	0
RERE	473	broad.mit.edu	37	1	8716109	8716109	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:8716109delT	ENST00000337907.3	-	3	882	c.248delA	c.(247-249)agfs	p.K83fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.K83fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.K83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	83					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATAACGAGACTTTTTTTTCGG	0.453													9	367	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccg>cc	p.PQ1326del	ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1326					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1327*(1)|p.Q1334delQ(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	126	---	---	---	---					
RBBP4	5928	broad.mit.edu	37	1	33134662	33134664	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:33134662_33134664delAGA	ENST00000373493.5	+	6	849_851	c.690_692delAGA	c.(688-693)gta>gt	p.VE230del	RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000458695.2_In_Frame_Del_p.VE195del|RBBP4_ENST00000414241.3_In_Frame_Del_p.VE229del|RBBP4_ENST00000373485.1_In_Frame_Del_p.VE230del	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	230					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CGGCAGTAGTAGAAGATGTTTCC	0.433													24	60	---	---	---	---					
PRPF38B	55119	broad.mit.edu	37	1	109241970	109241980	+	Frame_Shift_Del	DEL	GGGGTTAGAAC	GGGGTTAGAAC	-	rs3210429		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:109241970_109241980delGGGGTTAGAAC	ENST00000370021.1	+	7	1273_1283	c.636_646delGGGGTTAGAAC	c.(634-648)cggcfs	p.RGLER212fs	PRPF38B_ENST00000370025.4_Frame_Shift_Del_p.RGLER323fs			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	323					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GTATTGACCGGGGGTTAGAACGCAGGCGCAG	0.488													22	42	---	---	---	---					
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													3	6	---	---	---	---					
C4orf21	55345	broad.mit.edu	37	4	113540154	113540155	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:113540154_113540155delTG	ENST00000505019.1	-	6	1168_1169	c.1043_1044delCA	c.(1042-1044)afs	p.T348fs	C4orf21_ENST00000445203.2_Frame_Shift_Del_p.T317fs|C4orf21_ENST00000309071.5_Frame_Shift_Del_p.T348fs	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	348										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTTCCTTTCTGTATCATTCCC	0.366													23	41	---	---	---	---					
GS1-124K5.2	0	broad.mit.edu	37	7	65888988	65888988	+	RNA	DEL	T	T	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:65888988delT	ENST00000442578.1	-	0	826																											tttttttttcttttttttttt	0.488													2	4	---	---	---	---					
LRP12	29967	broad.mit.edu	37	8	105503080	105503081	+	Frame_Shift_Ins	INS	-	-	TGAG			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:105503080_105503081insTGAG	ENST00000276654.5	-	7	2508_2509	c.2400_2401insCTCA	c.(2398-2403)tcatcafs	p.-801fs	LRP12_ENST00000424843.2_Frame_Shift_Ins_p.-782fs|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGTCCTTGATCTGAGGCAAGAT	0.441													26	80	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113259327	113259328	+	Frame_Shift_Ins	INS	-	-	T	rs142018478		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:113259327_113259328insT	ENST00000297405.5	-	64	10387_10388	c.10143_10144insA	c.(10141-10146)aagacafs	p.T3382fs	CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.T3312fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.T3342fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.T3213fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3382	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAAGGTGTCCTTTTTTGCAAT	0.406										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	49	---	---	---	---					
LHX6	26468	broad.mit.edu	37	9	124989225	124989225	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:124989225delC	ENST00000394319.4	-	3	345	c.241delG	c.(241-243)tcfs	p.V81fs	LHX6_ENST00000340587.3_Frame_Shift_Del_p.V81fs|LHX6_ENST00000541397.2_Frame_Shift_Del_p.V70fs|LHX6_ENST00000373754.2_Frame_Shift_Del_p.V52fs|LHX6_ENST00000373755.2_Frame_Shift_Del_p.V52fs	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	52	LIM zinc-binding 1.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						GGTGAGCAGACAGATGGCGTG	0.662													2	4	---	---	---	---					
PRKD1	5587	broad.mit.edu	37	14	30396622	30396623	+	In_Frame_Ins	INS	-	-	CCCGGA	rs139860047	by1000genomes	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:30396622_30396623insCCCGGA	ENST00000331968.5	-	1	325_326	c.96_97insTCCGGG	c.(94-99)ggccgg>ggTCCGGGccgg	p.35_36insGP	PRKD1_ENST00000415220.2_In_Frame_Ins_p.35_36insGP	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	35					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCGGGCCCGGGCCCGGACCCTG	0.762													5	5	---	---	---	---					
SYT16	83851	broad.mit.edu	37	14	62541956	62541957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:62541956_62541957insA	ENST00000430451.2	+	3	1037_1038	c.840_841insA	c.(838-843)gcaacafs	p.T281fs	SYT16_ENST00000446982.2_Frame_Shift_Ins_p.T281fs|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	281										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGGGGATGCCAAACACCACGG	0.545													12	26	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	71212876	71212876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:71212876delG	ENST00000393567.2	-	4	486	c.336delC	c.(334-336)ccfs	p.P112fs	HYDIN_ENST00000321489.5_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.P129fs|HYDIN_ENST00000538248.1_Frame_Shift_Del_p.P139fs|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.P129fs|HYDIN_ENST00000448089.2_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000393550.2_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000448691.1_Frame_Shift_Del_p.P112fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	112										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGACTTCACAGGGAGTGTAGT	0.388													13	122	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579718	7579718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:7579718delA	ENST00000420246.2	-	3	210	c.78delT	c.(76-78)ctfs	p.L26fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L26fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	26	Interaction with HRMT1L2.|Transcription activation (acidic).				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.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(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)		TGTTTTCAGGAAGTCTGAAAG	0.622		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)			23	28	---	---	---	---					
RBBP4	5928	broad.mit.edu	37	1	33134662	33134664	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:33134662_33134664delAGA	ENST00000373493.5	+	6	849_851	c.690_692delAGA	c.(688-693)gta>gt	p.VE230del	RBBP4_ENST00000458695.2_In_Frame_Del_p.VE195del|RBBP4_ENST00000414241.3_In_Frame_Del_p.VE229del|RBBP4_ENST00000373485.1_In_Frame_Del_p.VE230del|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000544435.1_5'UTR	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	230					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CGGCAGTAGTAGAAGATGTTTCC	0.433													24	60	---	---	---	---					
PRPF38B	55119	broad.mit.edu	37	1	109241970	109241980	+	Frame_Shift_Del	DEL	GGGGTTAGAAC	GGGGTTAGAAC	-	rs3210429		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr1:109241970_109241980delGGGGTTAGAAC	ENST00000370021.1	+	7	1273_1283	c.636_646delGGGGTTAGAAC	c.(634-648)cggcfs	p.RGLER212fs	PRPF38B_ENST00000370025.4_Frame_Shift_Del_p.RGLER323fs			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	323					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GTATTGACCGGGGGTTAGAACGCAGGCGCAG	0.488													22	42	---	---	---	---					
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													3	6	---	---	---	---					
C4orf21	55345	broad.mit.edu	37	4	113540154	113540155	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr4:113540154_113540155delTG	ENST00000505019.1	-	6	1168_1169	c.1043_1044delCA	c.(1042-1044)afs	p.T348fs	C4orf21_ENST00000445203.2_Frame_Shift_Del_p.T317fs|C4orf21_ENST00000309071.5_Frame_Shift_Del_p.T348fs	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	348										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTTCCTTTCTGTATCATTCCC	0.366													23	41	---	---	---	---					
GS1-124K5.2	0	broad.mit.edu	37	7	65888988	65888988	+	RNA	DEL	T	T	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr7:65888988delT	ENST00000442578.1	-	0	826																											tttttttttcttttttttttt	0.488													2	4	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113259327	113259328	+	Frame_Shift_Ins	INS	-	-	T	rs142018478		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr8:113259327_113259328insT	ENST00000297405.5	-	64	10387_10388	c.10143_10144insA	c.(10141-10146)aagacafs	p.T3382fs	CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.T3312fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.T3342fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.T3213fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3382	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAAGGTGTCCTTTTTTGCAAT	0.406										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	49	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													7	50	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													3	4	---	---	---	---					
SYT16	83851	broad.mit.edu	37	14	62541956	62541957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr14:62541956_62541957insA	ENST00000430451.2	+	3	1037_1038	c.840_841insA	c.(838-843)gcaacafs	p.T281fs	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Frame_Shift_Ins_p.T281fs	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	281										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGGGGATGCCAAACACCACGG	0.545													12	26	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	71212876	71212876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr16:71212876delG	ENST00000393567.2	-	4	486	c.336delC	c.(334-336)ccfs	p.P112fs	HYDIN_ENST00000288168.10_Frame_Shift_Del_p.P129fs|HYDIN_ENST00000393550.2_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000538248.1_Frame_Shift_Del_p.P139fs|HYDIN_ENST00000448691.1_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000448089.2_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.P129fs|HYDIN_ENST00000321489.5_Frame_Shift_Del_p.P112fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	112										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGACTTCACAGGGAGTGTAGT	0.388													13	122	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579718	7579718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	563c5a89-6dad-467e-b2ea-e07677574a08	68d635f1-65fb-4395-99c0-a34514289521	g.chr17:7579718delA	ENST00000420246.2	-	3	210	c.78delT	c.(76-78)ctfs	p.L26fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L26fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	26	Interaction with HRMT1L2.|Transcription activation (acidic).				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.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(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)		TGTTTTCAGGAAGTCTGAAAG	0.622		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)			23	28	---	---	---	---