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
OR4N4	283694	broad.mit.edu	37	15	22382756	22382756	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr15:22382756G>T	ENST00000328795.4	+	1	375	c.284G>T	c.(283-285)aGa>aTa	p.R95I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R95I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCTCCTACAGAGGCTGCATC	0.517000													8	176					5.03518e-11	7.11584e-11	0.007413	1	0
CCDC14	64770	broad.mit.edu	37	3	123633720	123633720	+	Missense_Mutation	SNP	C	C	A	rs148584055	by1000genomes	TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr3:123633720C>A	ENST00000485727.1	-	9	6760	c.2168G>T	c.(2167-2169)cGt>cTt	p.R723L	CCDC14_ENST00000433542.2_Missense_Mutation_p.R882L|CCDC14_ENST00000489746.1_Missense_Mutation_p.R723L|CCDC14_ENST00000488653.2_Missense_Mutation_p.R923L|CCDC14_ENST00000310351.4_Missense_Mutation_p.R763L|CCDC14_ENST00000483247.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	923						centrosome		p.R763L(1)|p.R882L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTGTTCATCACGAGAAGTGAA	0.433000													5	28					0.00116845	0.00135003	0.001168	1	0
STAT3	6774	broad.mit.edu	37	17	40490754	40490754	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:40490754T>C	ENST00000264657.5	-	6	857	c.545A>G	c.(544-546)cAa>cGa	p.Q182R	STAT3_ENST00000404395.3_Missense_Mutation_p.Q182R|STAT3_ENST00000389272.3_Missense_Mutation_p.Q84R|STAT3_ENST00000585517.1_Missense_Mutation_p.Q182R|STAT3_ENST00000588969.1_Missense_Mutation_p.Q182R	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	182					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.Q182R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTGCCTCCTTGACTCTTGAG	0.328000									Hyperimmunoglobulin E Recurrent Infection Syndrome				29	82					0	0	0.006320	0	0
HTRA3	94031	broad.mit.edu	37	4	8307713	8307713	+	Silent	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:8307713T>C	ENST00000307358.2	+	9	1416	c.1212T>C	c.(1210-1212)gaT>gaC	p.D404D		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	404	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.D404D(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GCATCCAAGATGGTGACATCA	0.652000													4	73					0	0	0.001168	0	0
NCOR1	9611	broad.mit.edu	37	17	15935793	15935793	+	Silent	SNP	T	T	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:15935793T>G	ENST00000268712.3	-	46	7397	c.7140A>C	c.(7138-7140)tcA>tcC	p.S2380S	NCOR1_ENST00000395851.1_Silent_p.S2277S|NCOR1_ENST00000395857.3_Silent_p.S964S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2380	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.S2380S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAACTGAGTTGAGCCTGACA	0.428000													4	75					0	0	0.000602	0	0
AKR1C1	1645	broad.mit.edu	37	10	5014469	5014469	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr10:5014469A>G	ENST00000380872.4	+	6	839	c.647A>G	c.(646-648)tAt>tGt	p.Y216C	AKR1C1_ENST00000434459.2_Missense_Mutation_p.Y216C|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1									p.Y216C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						CTGGTTGCCTATAGTGCTCTG	0.408000													6	68					0	0	0.004482	0	0
PZP	5858	broad.mit.edu	37	12	9346702	9346702	+	Missense_Mutation	SNP	T	T	A	rs144906712		TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:9346702T>A	ENST00000261336.2	-	11	1253	c.1225A>T	c.(1225-1227)Agt>Tgt	p.S409C	PZP_ENST00000381997.2_Missense_Mutation_p.S278C	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.S278C(1)|p.S409C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACCGAGATACTGGTAGTATTG	0.378000													10	87					0	0	0.006214	0	0
KRT6C	286887	broad.mit.edu	37	12	52862852	52862852	+	Silent	SNP	C	C	T	rs143211712		TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:52862852C>T	ENST00000252250.6	-	9	1736	c.1689G>A	c.(1687-1689)aaG>aaA	p.K563K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	563	Tail.				cytoskeleton organization	keratin filament	structural molecule activity	p.K563K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CACTTTAGTGCTTGTAGCTCT	0.607000													7	68					0	0	0.001984	0	0
ITGA6	3655	broad.mit.edu	37	2	173344444	173344444	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:173344444G>A	ENST00000375221.2	+	11	1784	c.1581G>A	c.(1579-1581)gcG>gcA	p.A527A	ITGA6_ENST00000343713.4_Silent_p.A483A|ITGA6_ENST00000264106.6_Silent_p.A527A|ITGA6_ENST00000264107.7_Silent_p.A488A|ITGA6_ENST00000409532.1_Silent_p.A369A|ITGA6_ENST00000409080.1_Silent_p.A488A			P23229	ITA6_HUMAN	integrin, alpha 6	527					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	p.A488A(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAAAACAGCGTGTGGGGCGC	0.488000													26	208					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9088564	9088564	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:9088564G>T	ENST00000397910.4	-	1	3454	c.3251C>A	c.(3250-3252)cCa>cAa	p.P1084Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1084	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P1084Q(2)		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						GGACTGAGATGGAGATACTGA	0.448000													14	61					0.000151284	0.000183473	0.001855	1	0
EIF4A1	1973	broad.mit.edu	37	17	7480995	7480995	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:7480995C>G	ENST00000293831.8	+	8	893	c.877C>G	c.(877-879)Cat>Gat	p.H293D	EIF4A1_ENST00000577269.1_Missense_Mutation_p.H293D|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.H293D	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	293	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	p.H293D(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGAGAAGATGCATGCTCGAGA	0.547000													11	140					0	0	0.000978	0	0
RB1	5925	broad.mit.edu	37	13	48941720	48941720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr13:48941720C>T	ENST00000267163.4	+	10	1168	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	344					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)|p.Q344*(4)|p.D340fs*5(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAAAACTCTTCAGACTGATTC	0.279000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			7	118					0	0	0.003080	0	0
RFTN1	23180	broad.mit.edu	37	3	16411656	16411656	+	Silent	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr3:16411656T>C	ENST00000334133.4	-	6	1229	c.957A>G	c.(955-957)ttA>ttG	p.L319L	RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Silent_p.L283L	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	319						plasma membrane		p.L319L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TCATGTGCTCTAACCAGTTGG	0.517000													29	170					0	0	0.001786	0	0
SETX	23064	broad.mit.edu	37	9	135205442	135205442	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr9:135205442T>G	ENST00000372169.2	-	10	1725	c.1543A>C	c.(1543-1545)Aca>Cca	p.T515P	SETX_ENST00000393220.1_Missense_Mutation_p.T515P|SETX_ENST00000224140.5_Missense_Mutation_p.T515P			Q7Z333	SETX_HUMAN	senataxin	515					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.T515P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATCATTGCTGTTCCTTTGGAG	0.438000													14	156					0	0	0.002450	0	0
SLC5A11	115584	broad.mit.edu	37	16	24909301	24909301	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr16:24909301G>T	ENST00000347898.3	+	10	1499	c.877G>T	c.(877-879)Gtc>Ttc	p.V293F	SLC5A11_ENST00000449109.2_Missense_Mutation_p.C160F|SLC5A11_ENST00000539472.1_Missense_Mutation_p.V229F|SLC5A11_ENST00000545376.1_Missense_Mutation_p.V223F|SLC5A11_ENST00000424767.2_Missense_Mutation_p.V258F|SLC5A11_ENST00000568579.1_Missense_Mutation_p.V223F|SLC5A11_ENST00000565769.1_Missense_Mutation_p.V229F|SLC5A11_ENST00000569071.1_Missense_Mutation_p.C160F|SLC5A11_ENST00000567758.1_Missense_Mutation_p.V258F	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	293					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.V293F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CCAGGTGATTGTCCAGCGGAC	0.502000													37	210					5.71845e-15	8.35774e-15	0.005524	1	0
KIF4B	285643	broad.mit.edu	37	5	154396603	154396603	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr5:154396603G>T	ENST00000435029.4	+	1	3344	c.3184G>T	c.(3184-3186)Ggc>Tgc	p.G1062C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1062	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.G1062C(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			tgatggtgatggcgacagtga	0.458000													10	46					0.000442599	0.000529262	0.006214	1	0
STOML2	30968	broad.mit.edu	37	9	35102814	35102814	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr9:35102814G>A	ENST00000356493.5	-	2	114	c.52C>T	c.(52-54)Cta>Tta	p.L18L	STOML2_ENST00000452248.2_Silent_p.L18L	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	18						cytoskeleton	receptor binding	p.L18L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAAGCCAGTAGAGAGCCCTGA	0.642000													3	40					0	0	0.004672	0	0
DNAH1	25981	broad.mit.edu	37	3	52416426	52416426	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr3:52416426G>A	ENST00000420323.2	+	50	8157	c.7896G>A	c.(7894-7896)gcG>gcA	p.A2632A		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2632	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A2632A(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCTCAAGGCGGGCCTACAGA	0.592000													16	134					0	0	0.003163	0	0
IGLV5-48	28780	broad.mit.edu	37	22	22707673	22707673	+	RNA	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr22:22707673C>G	ENST00000390293.1	+	0	261																											CCAGCCGCTTCTCTGGATCCA	0.517000													13	105					0	0	0.001368	0	0
CC2D1B	200014	broad.mit.edu	37	1	52828382	52828382	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:52828382G>C	ENST00000371586.2	-	3	244	c.106C>G	c.(106-108)Ctg>Gtg	p.L36V	CC2D1B_ENST00000284376.3_Missense_Mutation_p.L36V|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	36								p.L36V(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						ATGCCCAGCAGCATGTCCTCA	0.572000													5	87					0	0	0.000602	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337280	144337280	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chrX:144337280C>T	ENST00000370493.3	+	2	924	c.165C>T	c.(163-165)tgC>tgT	p.C55C		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	55								p.C55C(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGTTTTGCTACAGGAAAG	0.433000													13	141					0	0	0.001855	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	97					0	0	0.000248	0	0
CDH6	1004	broad.mit.edu	37	5	31316327	31316327	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr5:31316327A>G	ENST00000265071.2	+	9	1668	c.1403A>G	c.(1402-1404)cAa>cGa	p.Q468R	CDH6_ENST00000514738.1_Missense_Mutation_p.Q413R	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	468	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q468R(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AATCCAAAGCAAAGTAGTCGA	0.373000													7	64					0	0	0.003080	0	0
MINK1	50488	broad.mit.edu	37	17	4798435	4798435	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:4798435G>T	ENST00000355280.6	+	25	3179	c.2983G>T	c.(2983-2985)Gtc>Ttc	p.V995F	MINK1_ENST00000453408.3_Missense_Mutation_p.V975F|MINK1_ENST00000347992.7_Missense_Mutation_p.V966F	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	995	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.V995F(1)|p.V966F(1)		central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GGGTTCTGTGGTCAACGTGAA	0.607000													17	401					1.02788e-11	1.46473e-11	0.004990	1	0
UGT2B17	7367	broad.mit.edu	37	4	69431416	69431416	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:69431416C>A	ENST00000317746.2	-	2	789	c.747G>T	c.(745-747)gaG>gaT	p.E249D		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	249					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E249D(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCCCCATTGTCTCAAATAATG	0.353000													11	108					4.3838e-07	5.9026e-07	0.001855	1	0
LAMB1	3912	broad.mit.edu	37	7	107600230	107600230	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:107600230G>A	ENST00000393561.1	-	17	2620	c.2436C>T	c.(2434-2436)aaC>aaT	p.N812N	LAMB1_ENST00000222399.6_Silent_p.N788N|LAMB1_ENST00000393560.1_Silent_p.N788N			P07942	LAMB1_HUMAN	laminin, beta 1	788	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.N788N(1)|p.N788K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGGCCTCCGTTGGGATCAC	0.562000													4	37					0	0	0.000602	0	0
LCA5	167691	broad.mit.edu	37	6	80198869	80198869	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:80198869C>G	ENST00000392959.1	-	8	1774	c.1163G>C	c.(1162-1164)aGa>aCa	p.R388T	LCA5_ENST00000369846.4_Missense_Mutation_p.R388T|LCA5_ENST00000467898.2_Missense_Mutation_p.R388T	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	388					protein transport	cilium axoneme|microtubule basal body	protein binding	p.R388T(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTTTCTTCTCTTTCCATAAT	0.358000													17	89					0	0	0.004007	0	0
PCDH20	64881	broad.mit.edu	37	13	61987635	61987635	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr13:61987635G>A	ENST00000409186.1	-	5	2702	c.597C>T	c.(595-597)atC>atT	p.I199I	PCDH20_ENST00000409204.4_Silent_p.I199I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	172	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I199I(1)|p.I172I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGATGTCTCTGATGGCGATCT	0.517000													8	77					0	0	0.003080	0	0
AKAP12	9590	broad.mit.edu	37	6	151673899	151673899	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:151673899C>T	ENST00000402676.2	+	4	4613	c.4373C>T	c.(4372-4374)tCt>tTt	p.S1458F	AKAP12_ENST00000354675.6_Missense_Mutation_p.S1360F|AKAP12_ENST00000253332.1_Missense_Mutation_p.S1458F|AKAP12_ENST00000359755.5_Missense_Mutation_p.S1353F	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1458					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.S1458F(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGAAATCCTCTGAAAAAAAT	0.478000													4	76					0	0	0.000248	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996129	43996129	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr22:43996129C>A	ENST00000262726.7	-	23	2949	c.2696G>T	c.(2695-2697)gGa>gTa	p.G899V	EFCAB6_ENST00000396231.2_Missense_Mutation_p.G747V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	899	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.G899V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTGCCCTTTTCCCTCGGTGTC	0.428000													24	99					5.35356e-11	7.50376e-11	0.002780	1	0
CCNT1	904	broad.mit.edu	37	12	49088166	49088166	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:49088166C>A	ENST00000261900.3	-	9	1053	c.831G>T	c.(829-831)aaG>aaT	p.K277N		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	277					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	p.K277N(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCTCTGAAGTCTTTTCATCTG	0.418000													10	137					0.00829132	0.0094521	0.008291	1	0
SPECC1	92521	broad.mit.edu	37	17	20013766	20013766	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:20013766G>A	ENST00000395529.3	+	3	226	c.174G>A	c.(172-174)acG>acA	p.T58T	SPECC1_ENST00000395527.4_Silent_p.T58T|SPECC1_ENST00000261503.5_Silent_p.T58T|SPECC1_ENST00000472876.1_Intron	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	58						nucleus		p.T58T(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTGAGGACACGCTCAACAAGC	0.577000													4	91					0	0	0.000248	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704794	41704794	+	Splice_Site	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:41704794G>T	ENST00000310054.4	+	5	1050		c.e5+1		CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	p.?(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GATGGCACAGGTGTGGGAAGG	0.627000													11	43					3.07112e-06	3.94858e-06	0.000978	1	0
SMPD2	6610	broad.mit.edu	37	6	109764084	109764084	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:109764084C>T	ENST00000258052.3	+	7	980	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	207					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.F207F(1)		endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CTCGGGACTTCAAGGTGAGGA	0.542000													15	79					0	0	0.003163	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772817	140772817	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr5:140772817C>T	ENST00000398604.2	+	1	437	c.437C>T	c.(436-438)gCg>gTg	p.A146V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1												p.A146V(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGAAATCGCGGTTCCTGGA	0.448000													5	93					0	0	0.001168	0	0
P2RY10	27334	broad.mit.edu	37	X	78217036	78217036	+	Silent	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chrX:78217036A>G	ENST00000171757.2	+	4	1299	c.1019A>G	c.(1018-1020)tAa>tGa	p.*340*	P2RY10_ENST00000544091.1_Silent_p.*340*	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	0						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATGATTGGCTAAAATTAAGAT	0.413000													3	149					0	0	0.004672	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066750	18066750	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:18066750A>G	ENST00000506618.2	-	1	736	c.656T>C	c.(655-657)gTa>gCa	p.V219A		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	219	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.V219A(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CATGTCATCTACAAGGATAGC	0.448000													20	97					0	0	0.001523	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55333080	55333080	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:55333080G>A	ENST00000391728.4	+	5	749	c.716G>A	c.(715-717)aGc>aAc	p.S239N	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.S239N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.S239N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.S144N|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.S239N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.S239N	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.S239N(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GCAGGAGAGAGCGTGACCTTG	0.587000													6	131					0	0	0.004482	0	0
COX10	1352	broad.mit.edu	37	17	14110404	14110404	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:14110404C>T	ENST00000261643.3	+	7	1283	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D	COX10_ENST00000537334.1_Silent_p.D185D|COX10_ENST00000536205.1_Silent_p.D210D	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	402					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	p.D402D(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCTACGTGGACGCAGACCGCA	0.632000													6	72					0	0	0.001984	0	0
THSD7A	221981	broad.mit.edu	37	7	11464415	11464415	+	Nonsense_Mutation	SNP	G	G	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:11464415G>C	ENST00000423059.3	-	16	3542	c.3291C>G	c.(3289-3291)taC>taG	p.Y1097*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1097	TSP type-1 11.					integral to membrane		p.Y1097*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACCCATAGGTACTGGTTGC	0.512000										HNSCC(18;0.044)			11	148					0	0	0.008291	0	0
UGT2B17	7367	broad.mit.edu	37	4	69431418	69431418	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:69431418C>T	ENST00000317746.2	-	2	787	c.745G>A	c.(745-747)Gag>Aag	p.E249K		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	249					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E249K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CCCATTGTCTCAAATAATGTA	0.353000													11	108					0	0	0.001855	0	0
TTL	150465	broad.mit.edu	37	2	113260740	113260740	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:113260740A>G	ENST00000233336.5	+	5	1048	c.857A>G	c.(856-858)cAa>cGa	p.Q286R		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	286	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.Q286R(1)		breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATCTTACTACAAATCAAACAT	0.333000			T	ETV6	ALL								9	67					0	0	0.004482	0	0
FXYD3	5349	broad.mit.edu	37	19	35612163	35612163	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:35612163C>G	ENST00000605552.1	+	5	249	c.111C>G	c.(109-111)tgC>tgG	p.C37W	FXYD3_ENST00000454903.2_Missense_Mutation_p.C37W|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000435734.2_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000603449.1_Missense_Mutation_p.C37W|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000346446.5_Intron|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000605677.1_Intron|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000344013.6_Intron|FXYD3_ENST00000406242.3_Intron|FXYD3_ENST00000604404.1_Intron			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	0				Missing (in Ref. 2; AAA73922).		chloride channel complex|integral to plasma membrane	chloride channel activity	p.C37W(1)		endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAGCCCGTGCCCCCTTTCCC	0.527000													6	120					0	0	0.001984	0	0
CDH10	1008	broad.mit.edu	37	5	24488011	24488011	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr5:24488011C>T	ENST00000264463.4	-	12	2635	c.2128G>A	c.(2128-2130)Gtc>Atc	p.V710I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	710					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V710I(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAATCCCGGACGTCCGTGTTA	0.468000										HNSCC(23;0.051)			11	96					0	0	0.008291	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107012950	107012950	+	RNA	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr14:107012950A>G	ENST00000390625.2	-	0	424																											TAGTACAGTAATACACGGCTG	0.552000													15	179					0	0	0.003163	0	0
LYST	1130	broad.mit.edu	37	1	235850271	235850271	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:235850271G>T	ENST00000389794.3	-	48	10952	c.10778C>A	c.(10777-10779)aCa>aAa	p.T3593K	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.T3593K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3593					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.T3593K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAATCTGTTTGTGTAGGCTGT	0.453000													10	104					0.000978159	0.00114565	0.000978	1	0
ATRX	546	broad.mit.edu	37	X	76776888	76776888	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chrX:76776888G>A	ENST00000373344.5	-	33	7278	c.7064C>T	c.(7063-7065)tCa>tTa	p.S2355L	ATRX_ENST00000395603.3_Missense_Mutation_p.S2317L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2355					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.S2355L(2)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TACTACAGCTGAAATTATATC	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						4	81					0	0	0.000602	0	0
AKR7A3	22977	broad.mit.edu	37	1	19609317	19609317	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:19609317C>G	ENST00000361640.4	-	7	1444	c.904G>C	c.(904-906)Gca>Cca	p.A302P		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	302					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	p.A302P(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCCTCTGCCGCTGCCAAG	0.622000													8	71					0	0	0.006214	0	0
PPP1R32	220004	broad.mit.edu	37	11	61257979	61257979	+	Silent	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:61257979G>T	ENST00000338608.2	+	13	1340	c.1215G>T	c.(1213-1215)ctG>ctT	p.L405L	PPP1R32_ENST00000432063.2_Silent_p.L385L|PPP1R32_ENST00000366212.4_Silent_p.L35L|PPP1R32_ENST00000538185.1_Silent_p.L82L	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	405								p.T406A(1)									GCAGAACCCTGACCTCAGCTG	0.612000													5	138					5.9392e-07	7.9344e-07	0.001168	1	0
SLC27A3	11000	broad.mit.edu	37	1	153748206	153748206	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:153748206G>A	ENST00000271857.2	+	1	1377	c.617G>A	c.(616-618)cGc>cAc	p.R206H	SLC27A3_ENST00000368661.3_Missense_Mutation_p.R125H|SLC27A3_ENST00000484014.1_Intron			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	125					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	p.R125H(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCAGCAGCGCGCCGCGCAC	0.711000													11	11					0	0	0.002450	0	0
PPP1R32	220004	broad.mit.edu	37	11	61257980	61257980	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:61257980A>G	ENST00000338608.2	+	13	1341	c.1216A>G	c.(1216-1218)Acc>Gcc	p.T406A	PPP1R32_ENST00000432063.2_Missense_Mutation_p.T386A|PPP1R32_ENST00000366212.4_Missense_Mutation_p.T36A|PPP1R32_ENST00000538185.1_Missense_Mutation_p.T83A	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	406								p.T406A(1)									CAGAACCCTGACCTCAGCTGA	0.617000													5	139					0	0	0.001168	0	0
KLRK1	22914	broad.mit.edu	37	12	10525829	10525829	+	Splice_Site	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:10525829G>T	ENST00000240618.6	-	8	675	c.533_splice	c.e8-1	p.L179_splice	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Splice_Site_p.L179_splice|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	179	C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding	p.L179I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						ATTATTGTTAGTCTAGAGGAG	0.333000													13	91					1.36491e-13	1.97796e-13	0.001855	1	0
DLC1	10395	broad.mit.edu	37	8	13251147	13251147	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr8:13251147C>A	ENST00000276297.4	-	4	1638	c.1229G>T	c.(1228-1230)cGa>cTa	p.R410L	DLC1_ENST00000316609.5_Missense_Mutation_p.R410L|DLC1_ENST00000511869.1_Missense_Mutation_p.R410L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	410					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.R410L(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAAATTTACTCGTGTCTGATT	0.418000													9	95					3.09899e-07	4.20577e-07	0.004482	1	0
ZCCHC2	54877	broad.mit.edu	37	18	60241581	60241581	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr18:60241581T>C	ENST00000269499.5	+	13	2685	c.2267T>C	c.(2266-2268)gTt>gCt	p.V756A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.V435A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	756					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.V756S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCTAGTCCTGTTGCTATTTCT	0.488000													4	70					0	0	0.000248	0	0
SPRR4	163778	broad.mit.edu	37	1	152944414	152944414	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:152944414G>T	ENST00000328051.2	+	2	97	c.48G>T	c.(46-48)caG>caT	p.Q16H		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	16	Gln-rich.				keratinization|peptide cross-linking	cell cortex		p.Q16H(1)		lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCACCCCAGAGGGCCCAGC	0.582000													7	118					8.12818e-05	9.928e-05	0.001984	1	0
KDM5A	5927	broad.mit.edu	37	12	463298	463298	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:463298G>A	ENST00000399788.2	-	8	1335	c.973C>T	c.(973-975)Cct>Tct	p.P325S	KDM5A_ENST00000382815.4_Missense_Mutation_p.P325S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	325					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P325S(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GGTAGTGGAGGAATTAGACAA	0.393000			T	NUP98	AML								6	53					0	0	0.001168	0	0
XIST	7503	broad.mit.edu	37	X	73066244	73066244	+	RNA	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chrX:73066244G>A	ENST00000429829.1	-	0	6344					NR_001564.2																						TATGTGGAGAGGACCCTCCTT	0.468000													10	66					0	0	0.006214	0	0
NF1	4763	broad.mit.edu	37	17	29528174	29528174	+	Silent	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:29528174T>C	ENST00000358273.4	+	10	1565	c.1182T>C	c.(1180-1182)ttT>ttC	p.F394F	NF1_ENST00000431387.4_Silent_p.F394F|NF1_ENST00000356175.3_Silent_p.F394F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	394					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.F394F(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAACACTTTAAGGTGAGAG	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			12	62					0	0	0.001368	0	0
CEP350	9857	broad.mit.edu	37	1	180062865	180062865	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:180062865A>G	ENST00000367607.3	+	34	8043	c.7625A>G	c.(7624-7626)tAt>tGt	p.Y2542C	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2542	CAP-Gly.					centrosome|nucleus|spindle		p.Y2542C(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AATGGAACATATGATGGTATT	0.373000													9	105					0	0	0.006214	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294652	110294652	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:110294652G>A	ENST00000369805.3	-	15	1631	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.R437W|EPS8L3_ENST00000361965.4_Missense_Mutation_p.R467W	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	467	SH3.					cytoplasm	protein binding	p.R468W(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GTCAGTTCCCGTGGGTTCCTA	0.602000													21	119					0	0	0.008871	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96589247	96589247	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:96589247C>T	ENST00000456556.1	-	32	2223	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR					ankyrin repeat domain 36C									p.G713G(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AATTACCTGTCCCACATTGTA	0.368000													3	36					0	0	0.004672	0	0
KRT76	51350	broad.mit.edu	37	12	53169354	53169354	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:53169354C>T	ENST00000332411.2	-	2	686	c.633G>A	c.(631-633)ctG>ctA	p.L211L		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	211	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.L211L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTGGTCTCCAGGACCTTGT	0.567000													8	129					0	0	0.004482	0	0
COL4A5	1287	broad.mit.edu	37	X	107911555	107911555	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chrX:107911555A>G	ENST00000328300.6	+	41	3855	c.3611A>G	c.(3610-3612)aAg>aGg	p.K1204R	COL4A5_ENST00000361603.2_Missense_Mutation_p.K1204R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1204	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.K1204R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATAGGCCAAAAGGGTGATGGA	0.448000									Alport syndrome with Diffuse Leiomyomatosis				3	63					0	0	0.000248	0	0
DST	667	broad.mit.edu	37	6	56504285	56504285	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:56504285C>G	ENST00000370754.5	-	20	2722	c.2723G>C	c.(2722-2724)aGa>aCa	p.R908T	DST_ENST00000421834.2_Missense_Mutation_p.R730T|DST_ENST00000370788.2_Missense_Mutation_p.R730T|DST_ENST00000361203.3_Missense_Mutation_p.R730T|DST_ENST00000312431.6_Missense_Mutation_p.R730T|DST_ENST00000370769.4_Missense_Mutation_p.R730T|DST_ENST00000518935.1_Missense_Mutation_p.R404T|DST_ENST00000370765.6_Missense_Mutation_p.R404T|DST_ENST00000446842.2_Missense_Mutation_p.R404T|DST_ENST00000244364.6_Missense_Mutation_p.R404T			Q03001	DYST_HUMAN	dystonin	730	SH3.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.R404T(6)|p.R730T(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTGGTGTTTCTCTCACTCCA	0.353000													22	125					0	0	0.002299	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	93					0	0	0.001855	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102300094	102300094	+	RNA	SNP	G	G	T	rs28459357		TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr15:102300094G>T	ENST00000561463.1	+	0	8140																											GACACTCATGGAGGAGTCGGC	0.582000													4	10					1.024e-07	1.40083e-07	0.000602	1	0
POLR3B	55703	broad.mit.edu	37	12	106824084	106824084	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:106824084C>G	ENST00000228347.4	+	14	1519	c.1297C>G	c.(1297-1299)Cgc>Ggc	p.R433G	POLR3B_ENST00000539066.1_Missense_Mutation_p.R375G	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	433					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.R433G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TAAAATGGACCGCCAGGGTGT	0.433000													28	163					0	0	0.005443	0	0
RBMS1	5937	broad.mit.edu	37	2	161223815	161223815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:161223815C>A	ENST00000348849.3	-	2	593	c.163G>T	c.(163-165)Gga>Tga	p.G55*	RBMS1_ENST00000409289.2_Nonsense_Mutation_p.G22*|RBMS1_ENST00000409972.1_Nonsense_Mutation_p.G22*|RBMS1_ENST00000392753.3_Nonsense_Mutation_p.G55*|RBMS1_ENST00000409075.1_Nonsense_Mutation_p.G22*|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	55					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	p.G55*(1)	PLA2R1/RBMS1(2)								TGATCCCATCCTGAgttgcta	0.552000													11	107					3.86212e-05	4.75124e-05	0.008291	1	0
SRP54-AS1	100506157	broad.mit.edu	37	14	35409300	35409300	+	RNA	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr14:35409300C>A	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							GCTGGTTATCCAAGTCTGGCA	0.468000													11	98					4.68919e-08	6.46654e-08	0.008291	1	0
DCTN1	1639	broad.mit.edu	37	2	74605276	74605276	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:74605276C>G	ENST00000361874.3	-	2	447	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L	DCTN1_ENST00000409567.3_Missense_Mutation_p.V44L|DCTN1_ENST00000409240.1_Missense_Mutation_p.V27L|DCTN1_ENST00000394003.3_Missense_Mutation_p.V44L|DCTN1_ENST00000409868.1_Missense_Mutation_p.V27L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	44					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.V44L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACATAGGCCACAGTGCCTCGG	0.582000													11	104					0	0	0.000978	0	0
RABEPK	10244	broad.mit.edu	37	9	127969979	127969979	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr9:127969979G>T	ENST00000373544.1	+	4	356	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	RABEPK_ENST00000394124.4_Missense_Mutation_p.D64Y|RABEPK_ENST00000373538.3_Missense_Mutation_p.D64Y|RABEPK_ENST00000394125.4_Missense_Mutation_p.D64Y|RABEPK_ENST00000259460.8_Missense_Mutation_p.D64Y			Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	64					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		p.D64Y(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AAGCTTCTCAGACGTGCACAC	0.522000													29	104					3.73148e-12	5.36204e-12	0.007291	1	0
TOM1	10043	broad.mit.edu	37	22	35728979	35728979	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr22:35728979A>G	ENST00000411850.1	+	9	1030	c.905A>G	c.(904-906)gAa>gGa	p.E302G	TOM1_ENST00000449058.2_Missense_Mutation_p.E302G|TOM1_ENST00000436462.2_Missense_Mutation_p.E264G|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000425375.1_Missense_Mutation_p.E257G|TOM1_ENST00000447733.1_Missense_Mutation_p.E269G	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	302	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	p.E302G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGTAGGTTTGAACGGTTCCGA	0.507000													6	98					0	0	0.001984	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154989004	154989004	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:154989004A>G	ENST00000368426.3	+	4	1600	c.1463A>G	c.(1462-1464)aAt>aGt	p.N488S	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.N488S|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.N522S|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.N488S	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	488					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.N488S(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GACCTCTCCAATGGCCACCTG	0.677000													3	40					0	0	0.004672	0	0
PLIN1	5346	broad.mit.edu	37	15	90213396	90213396	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr15:90213396G>T	ENST00000300055.5	-	5	578	c.413C>A	c.(412-414)aCt>aAt	p.T138N	PLIN1_ENST00000430628.2_Missense_Mutation_p.T138N	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	138					triglyceride catabolic process	lipid particle	lipid binding	p.T138N(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CTTGTCTGAAGTGCTCGCGAT	0.627000													7	27					2.0095e-06	2.62308e-06	0.001984	1	0
GSG1L	146395	broad.mit.edu	37	16	27840114	27840114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr16:27840114C>A	ENST00000380898.2	-	5	910	c.361G>T	c.(361-363)Gag>Tag	p.E121*	GSG1L_ENST00000380897.3_Nonsense_Mutation_p.E121*|GSG1L_ENST00000569166.1_Nonsense_Mutation_p.E121*|GSG1L_ENST00000447459.2_Nonsense_Mutation_p.E276*|GSG1L_ENST00000395724.3_Nonsense_Mutation_p.E225*			Q6UXU4	GSG1L_HUMAN	GSG1-like	276						integral to membrane		p.E121*(1)|p.E276*(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						ACTGACCTCTCCCGGAAGTAC	0.602000													10	34					1.58986e-06	2.09128e-06	0.008291	1	0
SOS2	6655	broad.mit.edu	37	14	50667775	50667775	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr14:50667775G>A	ENST00000216373.5	-	3	515	c.241C>T	c.(241-243)Cca>Tca	p.P81S	SOS2_ENST00000543680.1_Missense_Mutation_p.P81S	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	81					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.P81S(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTATCAATTGGGTGAGGAAAG	0.373000													8	100					0	0	0.003080	0	0
SPAG5	10615	broad.mit.edu	37	17	26905478	26905478	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:26905478G>A	ENST00000321765.5	-	21	3599	c.3267C>T	c.(3265-3267)ctC>ctT	p.L1089L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1089					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	p.L1089L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GGGCCTCCTGGAGCACTTTGG	0.577000													6	84					0	0	0.001984	0	0
ENAM	10117	broad.mit.edu	37	4	71510435	71510435	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:71510435G>C	ENST00000396073.3	+	9	3573	c.3292G>C	c.(3292-3294)Gag>Cag	p.E1098Q	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1098					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.E1098Q(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CACATTGGTTGAGTTAGCTAC	0.428000													6	78					0	0	0.001168	0	0
CLVS1	157807	broad.mit.edu	37	8	62289213	62289213	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr8:62289213C>T	ENST00000519846.1	+	4	977	c.505C>T	c.(505-507)Cta>Tta	p.L169L	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Silent_p.L169L			Q8IUQ0	CLVS1_HUMAN	clavesin 1	169	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.L169L(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATTGGAAGTCCTAATCGAAGA	0.443000													14	73					0	0	0.001855	0	0
UBN2	254048	broad.mit.edu	37	7	138943367	138943367	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:138943367C>T	ENST00000288561.8	+	4	797	c.548C>T	c.(547-549)cCc>cTc	p.P183L	UBN2_ENST00000473989.2_Missense_Mutation_p.P266L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	266								p.P183L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CACAAGCCACCCAAGGTGAGT	0.363000													4	50					0	0	0.000248	0	0
KLHL38	340359	broad.mit.edu	37	8	124664241	124664241	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr8:124664241G>T	ENST00000325995.7	-	1	949	c.926C>A	c.(925-927)aCc>aAc	p.T309N	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	309								p.T309N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCATTGGCCGGTCTGTTTGCT	0.577000													8	60					0.00307968	0.0035344	0.003080	1	0
FIS1	51024	broad.mit.edu	37	7	100883441	100883441	+	Nonstop_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:100883441C>G	ENST00000474120.1	-	3	586	c.179G>C	c.(178-180)tGa>tCa	p.*60S	FIS1_ENST00000223136.4_Missense_Mutation_p.D115H|FIS1_ENST00000482199.1_5'UTR|FIS1_ENST00000442303.1_Nonstop_Mutation_p.*91S			Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	0					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					ATGGCCTTGTCAATGAGCCGC	0.587000													3	162					0	0	0.004672	0	0
SRRM2	23524	broad.mit.edu	37	16	2814127	2814127	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr16:2814127C>A	ENST00000301740.8	+	11	4147	c.3598C>A	c.(3598-3600)Ctg>Atg	p.L1200M		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1200	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.L1200M(1)		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						TGAGTCTTCACTGGTATTCAA	0.473000													8	136					0.000442599	0.000529262	0.006214	1	0
POLD2	5425	broad.mit.edu	37	7	44157303	44157303	+	Silent	SNP	T	T	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:44157303T>A	ENST00000406581.2	-	5	1030	c.381A>T	c.(379-381)atA>atT	p.I127I	POLD2_ENST00000223361.3_Silent_p.I127I|POLD2_ENST00000452185.1_Silent_p.I127I	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	127					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	p.I127I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CATCTGGGTGTATGTATTTAC	0.522000													5	24					0	0	0.001168	0	0
MYH13	8735	broad.mit.edu	37	17	10216590	10216590	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:10216590C>T	ENST00000418404.3	-	29	4229	c.4066G>A	c.(4066-4068)Gaa>Aaa	p.E1356K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1356K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1356K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1356					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.E1356K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTTGGCTTCCTGCTCCTCC	0.627000													14	129					0	0	0.001855	0	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													5	100					0	0	0.003080	0	0
RXFP1	59350	broad.mit.edu	37	4	159572994	159572994	+	Silent	SNP	A	A	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:159572994A>T	ENST00000307765.5	+	18	2312	c.2061A>T	c.(2059-2061)ccA>ccT	p.P687P	RXFP1_ENST00000460056.2_Silent_p.P606P|RXFP1_ENST00000470033.1_Silent_p.P654P|RXFP1_ENST00000343542.5_Silent_p.P639P|RXFP1_ENST00000448688.2_Silent_p.P582P	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	687						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.P687P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CCACAAGACCATTTAAAGAAA	0.363000													12	79					0	0	0.000978	0	0
TDP1	55775	broad.mit.edu	37	14	90430011	90430011	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr14:90430011A>G	ENST00000335725.4	+	3	803	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	TDP1_ENST00000393454.2_Missense_Mutation_p.I185V|TDP1_ENST00000555880.1_Missense_Mutation_p.I185V|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393452.3_Missense_Mutation_p.I185V	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	185					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.I185V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AGCCCTCCACATCAAGGGTAA	0.493000								Repair of DNA-protein crosslinks					4	79					0	0	0.000248	0	0
CASP3	836	broad.mit.edu	37	4	185552921	185552921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:185552921G>A	ENST00000308394.4	-	6	743	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	CASP3_ENST00000517513.1_Nonsense_Mutation_p.Q161*|CASP3_ENST00000393588.4_Nonsense_Mutation_p.Q161*|CASP3_ENST00000523916.1_Nonsense_Mutation_p.Q161*|CASP3_ENST00000393585.2_Nonsense_Mutation_p.Q161*	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	161					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	p.Q161*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	GACATTACCTGAATAATGAAA	0.338000													6	65					0	0	0.001984	0	0
CD1E	913	broad.mit.edu	37	1	158325668	158325668	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:158325668T>A	ENST00000444681.2	+	3	673	c.380T>A	c.(379-381)cTg>cAg	p.L127Q	CD1E_ENST00000368154.1_Missense_Mutation_p.L37Q|CD1E_ENST00000434258.1_Missense_Mutation_p.L224Q|CD1E_ENST00000368156.1_Missense_Mutation_p.L136Q|CD1E_ENST00000368163.3_Missense_Mutation_p.L226Q|CD1E_ENST00000368155.3_Missense_Mutation_p.L136Q|CD1E_ENST00000452291.2_Missense_Mutation_p.L37Q|CD1E_ENST00000368167.3_Missense_Mutation_p.L226Q|CD1E_ENST00000368164.3_Missense_Mutation_p.L37Q|CD1E_ENST00000368157.1_Missense_Mutation_p.L37Q|CD1E_ENST00000368160.3_Missense_Mutation_p.L226Q|CD1E_ENST00000368161.3_Missense_Mutation_p.L226Q|CD1E_ENST00000368165.3_Missense_Mutation_p.L136Q|CD1E_ENST00000368166.3_Missense_Mutation_p.L37Q	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	226					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.L226Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCTGGCCGTCTGCAGCTTGTG	0.587000													15	63					0	0	0.007413	0	0
TRIM56	81844	broad.mit.edu	37	7	100732051	100732051	+	Silent	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:100732051C>G	ENST00000306085.6	+	3	1755	c.1458C>G	c.(1456-1458)ggC>ggG	p.G486G		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	486					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					ACGGCTCTGGCCTCCTCCCCA	0.632000													6	140					0	0	0.003080	0	0
TMEM63A	9725	broad.mit.edu	37	1	226048664	226048664	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:226048664C>G	ENST00000366835.3	-	14	1389	c.1119G>C	c.(1117-1119)caG>caC	p.Q373H	TMEM63A_ENST00000537914.1_Missense_Mutation_p.Q47H|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	373						integral to membrane|lysosomal membrane	nucleotide binding	p.Q373H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ACTGAAGGCTCTGACACTTGC	0.537000													6	117					0	0	0.004482	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125124	12125124	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:12125124A>C	ENST00000379388.2	+	4	5428	c.5096A>C	c.(5095-5097)aAc>aCc	p.N1699T		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1699					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.N1699T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCTTTGCCAAACCCAGAGAAG	0.368000													3	102					0	0	0.004672	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105363225	105363225	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr10:105363225T>A	ENST00000369774.4	-	15	2026	c.1750A>T	c.(1750-1752)Agg>Tgg	p.R584W	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R451W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R419W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R556W			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	584					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.E555_R556>DW(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCAGGCCGCCTCTCCCCTGAG	0.642000													5	63					0	0	0.000602	0	0
TRIO	7204	broad.mit.edu	37	5	14387678	14387678	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr5:14387678G>A	ENST00000344204.4	+	22	3726	c.3702G>A	c.(3700-3702)cgG>cgA	p.R1234R	TRIO_ENST00000537187.1_Silent_p.R1234R|TRIO_ENST00000509967.2_Silent_p.R1185R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1234					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)					TCTCTCTGCGGATGGAGAAGT	0.438000													4	131					0	0	0.000248	0	0
PRKCA	5578	broad.mit.edu	37	17	64684503	64684503	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:64684503G>T	ENST00000413366.3	+	7	796	c.770G>T	c.(769-771)gGa>gTa	p.G257V		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	257	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.G257V(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GACTTCATGGGATCCCTTTCC	0.468000													10	72					2.17888e-05	2.73962e-05	0.006214	1	0
OR4C3	256144	broad.mit.edu	37	11	48347118	48347118	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:48347118T>G	ENST00000319856.4	+	1	647	c.626T>G	c.(625-627)tTg>tGg	p.L209W		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L209W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTGTACCCTTTGCTGGAAGTT	0.522000													9	53					0	0	0.000978	0	0
CHST8	64377	broad.mit.edu	37	19	34263411	34263411	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:34263411G>A	ENST00000262622.3	+	4	1476	c.718G>A	c.(718-720)Gac>Aac	p.D240N	CHST8_ENST00000434302.1_Missense_Mutation_p.D240N|CHST8_ENST00000438847.2_Missense_Mutation_p.D240N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	240					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.D240N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GGACACCTTCGACCGCCAGGG	0.627000													5	134					0	0	0.000602	0	0
MTX1	4580	broad.mit.edu	37	1	155182221	155182221	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:155182221C>T	ENST00000368376.3	+	5	923	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	RP11-263K19.6_ENST00000455788.1_RNA|MTX1_ENST00000481771.1_3'UTR|MTX1_ENST00000316721.4_Missense_Mutation_p.R242W	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	273					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGAAGTGACCCGGAAGTGGTA	0.547000													4	134					0	0	0.000602	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	27					0	0	0.004672	0	0
RGL2	5863	broad.mit.edu	37	6	33260318	33260318	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:33260318T>C	ENST00000497454.1	-	17	2506	c.2011A>G	c.(2011-2013)Aca>Gca	p.T671A	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	671	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.T671A(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TCCTGGCTTGTCACCTGGCAG	0.483000													9	88					0	0	0.004482	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241580	60241580	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr18:60241580G>T	ENST00000269499.5	+	13	2684	c.2266G>T	c.(2266-2268)Gtt>Ttt	p.V756F	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.V435F	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	756					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.V756S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCCTAGTCCTGTTGCTATTTC	0.483000													4	70					2.56e-06	3.31636e-06	0.000248	1	0
C2CD3	26005	broad.mit.edu	37	11	73849825	73849825	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:73849825T>A	ENST00000334126.7	-	5	1121	c.895A>T	c.(895-897)Agt>Tgt	p.S299C	C2CD3_ENST00000313663.7_Missense_Mutation_p.S299C|C2CD3_ENST00000539061.1_Missense_Mutation_p.S299C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	299						centrosome		p.S299C(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCACTGTGACTCTTGGCAACT	0.428000													7	85					0	0	0.006214	0	0
USP4	7375	broad.mit.edu	37	3	49335338	49335338	+	Silent	SNP	A	A	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr3:49335338A>T	ENST00000351842.4	-	12	1523	c.1515T>A	c.(1513-1515)ggT>ggA	p.G505G	USP4_ENST00000265560.4_Silent_p.G552G	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	552					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G552G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGTGGTTTAAACCTTCATCCA	0.433000													8	47					0	0	0.004482	0	0
VPS51	738	broad.mit.edu	37	11	64878173	64878173	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:64878173A>C	ENST00000279281.3	+	9	2100	c.2008A>C	c.(2008-2010)Atg>Ctg	p.M670L	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)									p.M670L(1)									CAGTGCCCCGATGGACACCAA	0.562000											OREG0021071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	137					0	0	0.004007	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422502	47422502	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:47422502A>T	ENST00000404338.3	+	1	570	c.570A>T	c.(568-570)aaA>aaT	p.K190N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	190					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.K190N(2)									AGCTTGCAAAAACAAAAAAGC	0.418000													5	82					0	0	0.000602	0	0
HEATR4	399671	broad.mit.edu	37	14	73989316	73989316	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr14:73989316G>C	ENST00000553558.1	-	3	862	c.541C>G	c.(541-543)Cta>Gta	p.L181V	HEATR4_ENST00000560393.1_Missense_Mutation_p.L134V|HEATR4_ENST00000334988.2_Missense_Mutation_p.L181V	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4									p.L181V(1)|p.L134V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTCACATCTAGAGAAGGTGGC	0.587000													7	27					0	0	0.001984	0	0
DLC1	10395	broad.mit.edu	37	8	13251148	13251148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr8:13251148G>A	ENST00000276297.4	-	4	1637	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DLC1_ENST00000316609.5_Nonsense_Mutation_p.R410*|DLC1_ENST00000511869.1_Nonsense_Mutation_p.R410*	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	410					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.R410L(3)|p.R410*(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAATTTACTCGTGTCTGATTT	0.423000													10	93					0	0	0.006214	0	0
C17orf58	284018	broad.mit.edu	37	17	65989196	65989196	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:65989196A>G	ENST00000536693.1	-	1	472	c.67T>C	c.(67-69)Tcc>Ccc	p.S23P	C17orf58_ENST00000334461.7_Missense_Mutation_p.S23P|C17orf58_ENST00000449250.2_Missense_Mutation_p.S23P			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	23								p.S23P(2)		lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGCAGCTGGAGGAGTCCAGG	0.532000													3	74					0	0	0.004672	0	0
CEP89	84902	broad.mit.edu	37	19	33424561	33424561	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:33424561C>T	ENST00000305768.4	-	8	770	c.682G>A	c.(682-684)Gca>Aca	p.A228T	CEP89_ENST00000590597.1_Missense_Mutation_p.A228T	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	228						centrosome|spindle pole		p.A228T(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTTTGACGTGCTCTACCAGTT	0.328000													10	148					0	0	0.006214	0	0
ZNF407	55628	broad.mit.edu	37	18	72775115	72775115	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr18:72775115C>G	ENST00000299687.5	+	8	5438	c.5438C>G	c.(5437-5439)tCc>tGc	p.S1813C		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1813C(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCATTGTTTCCAAGTCGTAC	0.557000													6	104					0	0	0.001984	0	0
ZNF236	7776	broad.mit.edu	37	18	74587576	74587576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr18:74587576C>T	ENST00000253159.8	+	6	988	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q266*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	264					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q264*(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGCCTTCTCTCAGAAAGGGAA	0.527000											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	114					0	0	0.006214	0	0
TNR	7143	broad.mit.edu	37	1	175324639	175324639	+	Splice_Site	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:175324639C>A	ENST00000367674.1	-	17	3957	c.3249_splice	c.e17+1	p.K1083_splice	TNR_ENST00000263525.2_Splice_Site_p.K1083_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1083	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.K1083N(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAAATCTCACCTTGCGGCTTC	0.507000													6	121					3.59834e-05	4.49135e-05	0.001168	1	0
PSG11	5680	broad.mit.edu	37	19	43523198	43523198	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:43523198C>A	ENST00000401740.1	-	3	536	c.433G>T	c.(433-435)Gag>Tag	p.E145*	PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Nonsense_Mutation_p.E23*|PSG11_ENST00000320078.7_Nonsense_Mutation_p.E145*|PSG11_ENST00000306322.7_Nonsense_Mutation_p.E23*			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	145					female pregnancy	extracellular region		p.E145*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTGGGAGTCTCCACTGTGCAG	0.507000													31	301					3.90053e-15	5.74991e-15	0.002445	1	0
OR10G2	26534	broad.mit.edu	37	14	22102425	22102425	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr14:22102425G>A	ENST00000542433.1	-	1	671	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L192L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GCACAGGCCAGTCTCAATACT	0.527000													15	99					0	0	0.004990	0	0
ZFX	7543	broad.mit.edu	37	X	24228471	24228471	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chrX:24228471A>G	ENST00000379177.1	+	11	1823	c.1396A>G	c.(1396-1398)Aac>Gac	p.N466D	ZFX_ENST00000379188.3_Missense_Mutation_p.N466D|ZFX_ENST00000540034.1_Missense_Mutation_p.N505D|ZFX_ENST00000338565.3_Missense_Mutation_p.N416D|ZFX_ENST00000539115.1_Missense_Mutation_p.N237D|ZFX_ENST00000304543.5_Missense_Mutation_p.N466D	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.N466D(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTACACTACCAACAAGAAGAT	0.448000													15	80					0	0	0.003163	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020775	33020775	+	RNA	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr16:33020775G>T	ENST00000565407.2	+	0	183				RP11-19N8.2_ENST00000567619.1_RNA														p.G61G(1)									AGGCTCCAGGGAAGGGACTGG	0.557000													11	305					0.000673444	0.0007942	0.008291	1	0
EED	8726	broad.mit.edu	37	11	85961365	85961365	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:85961365A>G	ENST00000263360.6	+	2	828	c.142A>G	c.(142-144)Aca>Gca	p.T48A	EED_ENST00000351625.6_Missense_Mutation_p.T48A|EED_ENST00000528180.1_Missense_Mutation_p.T48A|EED_ENST00000327320.4_Missense_Mutation_p.T48A	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	48					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	p.T48A(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AGAAAGTGGTACAAACACTGA	0.393000													4	47					0	0	0.000248	0	0
MYO15A	51168	broad.mit.edu	37	17	18052870	18052870	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:18052870C>T	ENST00000205890.5	+	35	7526	c.7188C>T	c.(7186-7188)gaC>gaT	p.D2396D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2396	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.D2396D(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCTCTTTGACCCTGTGCTGT	0.562000													5	60					0	0	0.000602	0	0
FKBP9	11328	broad.mit.edu	37	7	33044805	33044805	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:33044805G>A	ENST00000242209.4	+	10	1724	c.1555G>A	c.(1555-1557)Gcc>Acc	p.A519T	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.A572T|FKBP9_ENST00000538443.1_Missense_Mutation_p.A381T|FKBP9_ENST00000490776.2_Missense_Mutation_p.A287T	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	519	EF-hand 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.A519T(2)|p.A287T(2)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GTACATTCACGCCCAGGTGGC	0.537000													4	83					0	0	0.004482	0	0
KCNK18	338567	broad.mit.edu	37	10	118969399	118969399	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr10:118969399G>A	ENST00000334549.1	+	3	744	c.744G>A	c.(742-744)gaG>gaA	p.E248E		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	248						integral to membrane|plasma membrane		p.E248E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAGCCATGGAGAGGAGTAACT	0.532000													4	75					0	0	0.000248	0	0
MOCOS	55034	broad.mit.edu	37	18	33785085	33785085	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr18:33785085A>G	ENST00000261326.5	+	6	1085	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	355					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.Y355C(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TTGGCTCAGTATACCTACGTG	0.478000													10	65					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113585738	113585738	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr8:113585738A>G	ENST00000297405.5	-	24	4278	c.4034T>C	c.(4033-4035)gTg>gCg	p.V1345A	CSMD3_ENST00000455883.2_Missense_Mutation_p.V1241A|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1305A|CSMD3_ENST00000352409.3_Missense_Mutation_p.V1345A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1345	CUB 7.					integral to membrane|plasma membrane		p.V1305A(1)|p.V1345A(1)		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						ACTGGTATACACAAGTTGAAA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	64					0	0	0.008291	0	0
LAMA5	3911	broad.mit.edu	37	20	60904066	60904066	+	Silent	SNP	G	G	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr20:60904066G>C	ENST00000252999.3	-	34	4347	c.4281C>G	c.(4279-4281)ctC>ctG	p.L1427L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1427	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.L1427L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGAGGGAGAGGGAAGCAG	0.652000													7	51					0	0	0.001984	0	0
MIR147A	406939	broad.mit.edu	37	9	123007316	123007316	+	RNA	SNP	T	T	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr9:123007316T>A	ENST00000385079.1	-	0	12					NR_029604.1																						TGCAGAAATGTTGTCTTTAGA	0.463000													7	55					0	0	0.001984	0	0
EPHA6	285220	broad.mit.edu	37	3	96533506	96533506	+	Silent	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr3:96533506G>T	ENST00000389672.5	+	1	77	c.39G>T	c.(37-39)ccG>ccT	p.P13P	EPHA6_ENST00000470610.2_Silent_p.P13P	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity	p.P13P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGAGCTCCCCGGCGCCGCAGG	0.721000													5	31					0.000602214	0.00071513	0.000602	1	0
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													7	127	---	---	---	---					
RP11-400N13.1	0	broad.mit.edu	37	1	222435118	222435119	+	RNA	INS	-	-	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:222435118_222435119insT	ENST00000416510.1	-	0	167																											GCAATAATTTCTTTTTTTTTTA	0.302													2	4	---	---	---	---					
LINC01122	400955	broad.mit.edu	37	2	58687297	58687298	+	RNA	INS	-	-	T	rs142388743	by1000genomes	TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:58687297_58687298insT	ENST00000452840.1	+	0	127																											ATCTGTGTTTCTTTTTTTTTTC	0.312													3	4	---	---	---	---					
MYL1	4632	broad.mit.edu	37	2	211179668	211179668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:211179668delG	ENST00000352451.3	-	1	246	c.99delC	c.(97-99)ccfs	p.P33fs		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	33					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TTTCTTCTTTGGGTTTggctg	0.507													39	314	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)tttfs	p.F154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436													7	313	---	---	---	---					
AC026495.1	0	broad.mit.edu	37	15	20563423	20563423	+	RNA	DEL	C	C	-			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr15:20563423delC	ENST00000581090.1	+	0	63																											cccttcctctcccttcctctc	0.672													3	3	---	---	---	---					
