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
UGT2B17	7367	broad.mit.edu	37	4	69416514	69416514	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:69416514C>A	ENST00000317746.2	-	5	1236	c.1194G>T	c.(1192-1194)gcG>gcT	p.A398A		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	398					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A398A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CATGTTGATCCGCAAACAAGG	0.458000													20	123					1.17739e-12	1.86284e-12	0.005443	1	0
NOS2	4843	broad.mit.edu	37	17	26110042	26110042	+	Silent	SNP	G	G	A	rs139747007	byFrequency	TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:26110042G>A	ENST00000313735.6	-	6	791	c.558C>T	c.(556-558)ctC>ctT	p.L186L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	186					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.L186L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGGCGAAGATGAGCTCATCTC	0.552000													8	61					0	0	0.003080	0	0
KLK2	3817	broad.mit.edu	37	19	51380292	51380292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:51380292G>T	ENST00000358049.4	+	4	674	c.658G>T	c.(658-660)Gag>Tag	p.E220*	KLK2_ENST00000391810.2_Intron|KLK2_ENST00000325321.3_Intron	NM_001002231.2|NM_005551.4	NP_001002231.1|NP_005542.1	P20151	KLK2_HUMAN	kallikrein-related peptidase 2	0	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.E220*(1)	KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCAACATCTGGAGGGGAAAGG	0.547000			T	ETV4	prostate								15	50					2.31682e-05	2.97727e-05	0.003163	1	0
TAAR1	134864	broad.mit.edu	37	6	132966566	132966566	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:132966566G>C	ENST00000275216.1	-	1	576	c.577C>G	c.(577-579)Ctg>Gtg	p.L193V		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	193						plasma membrane		p.L193V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	ATAAAGGTCAGTACCCCAGAT	0.353000													17	92					0	0	0.004007	0	0
RP1L1	94137	broad.mit.edu	37	8	10465503	10465503	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:10465503C>A	ENST00000382483.3	-	4	6328	c.6105G>T	c.(6103-6105)caG>caT	p.Q2035H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2035					intracellular signal transduction			p.Q2035H(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCAACCTCCTGGGCCTCTT	0.617000													15	160					0.00244969	0.00274986	0.002450	1	0
ADCY1	107	broad.mit.edu	37	7	45650023	45650023	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:45650023A>T	ENST00000297323.7	+	3	857	c.835A>T	c.(835-837)Atg>Ttg	p.M279L	ADCY1_ENST00000432715.1_Missense_Mutation_p.M54L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	279					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.M279L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGCCATGGAGATGAAGGAGGA	0.602000													15	146					0	0	0.006122	0	0
REL	5966	broad.mit.edu	37	2	61149634	61149634	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:61149634G>C	ENST00000295025.7	+	11	2144	c.1824G>C	c.(1822-1824)ttG>ttC	p.L608F	REL_ENST00000394479.3_Missense_Mutation_p.L576F	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	608					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L608F(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ATGAGCAATTGAGTGACTCCT	0.333000			A		Hodgkin Lymphoma								10	65					0	0	0.008291	0	0
FBN2	2201	broad.mit.edu	37	5	127686666	127686666	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:127686666G>T	ENST00000508053.1	-	27	3680	c.2706C>A	c.(2704-2706)atC>atA	p.I902I	FBN2_ENST00000262464.4_Silent_p.I902I|FBN2_ENST00000508989.1_Silent_p.I869I			P35556	FBN2_HUMAN	fibrillin 2	902	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q903K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCTGTCCTGGATGTTGAGCC	0.532000													11	66					3.86212e-05	4.76888e-05	0.008291	1	0
STXBP5L	9515	broad.mit.edu	37	3	121137243	121137243	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:121137243G>C	ENST00000273666.6	+	27	3629	c.3358G>C	c.(3358-3360)Ggt>Cgt	p.G1120R	STXBP5L_ENST00000471454.1_Missense_Mutation_p.G1096R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1120					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.G1120R(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCTGGACCAGGTAGTATAGA	0.502000													3	33					0	0	0.000602	0	0
BTBD3	22903	broad.mit.edu	37	20	11898955	11898955	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:11898955G>T	ENST00000405977.1	+	2	657	c.32G>T	c.(31-33)tGt>tTt	p.C11F	BTBD3_ENST00000399006.2_Intron|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000254977.3_Intron|BTBD3_ENST00000378226.2_Missense_Mutation_p.C11F			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	11								p.C11F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AACATGAAATGTCTCACCTTC	0.408000													56	246					6.75472e-32	1.2065e-31	0.003610	1	0
TMTC1	83857	broad.mit.edu	37	12	29669365	29669365	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:29669365G>A	ENST00000256062.5	-	15	2373	c.1900C>T	c.(1900-1902)Cac>Tac	p.H634Y	TMTC1_ENST00000539277.1_Missense_Mutation_p.H742Y|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.H804Y|TMTC1_ENST00000552618.1_Missense_Mutation_p.H766Y	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	742						integral to membrane	binding	p.H634Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GACACAATGTGATTGGTCATC	0.468000													63	76					0	0	0.003610	0	0
ENOX1	55068	broad.mit.edu	37	13	43933986	43933986	+	Splice_Site	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:43933986C>G	ENST00000261488.6	-	7	1167		c.e7+1		ENOX1_ENST00000540032.1_Splice_Site|ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Splice_Site	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1						electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.?(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATGCAAAGTACCAGAAAGGTA	0.358000													7	134					0	0	0.001984	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32903146	32903146	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:32903146G>A	ENST00000418107.2	-	5	1010	c.748C>T	c.(748-750)Cct>Tct	p.P250S		NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	250					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		p.P250S(1)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CCAGGAAGAGGAGTGTAACCT	0.438000													10	126					0	0	0.010729	0	0
BRD1	23774	broad.mit.edu	37	22	50167916	50167916	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr22:50167916C>A	ENST00000216267.8	-	12	3628	c.3142G>T	c.(3142-3144)Ggg>Tgg	p.G1048W	BRD1_ENST00000404034.1_Missense_Mutation_p.G1048W|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000542442.1_Missense_Mutation_p.G736W|BRD1_ENST00000404760.1_Missense_Mutation_p.G1179W|BRD1_ENST00000342989.5_Missense_Mutation_p.G774W	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	1048					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.G774W(1)|p.G1048W(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTCGGCTCCCCGTGGACGCGG	0.552000													27	168					2.79863e-10	4.2847e-10	0.004656	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339423	13339423	+	RNA	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:13339423C>A	ENST00000602906.1	+	0	862																				kidney(3)|lung(1)	4						AGCTTGGAATCCACAAGGACT	0.433000													3	14					0.004672	0.00516283	0.004672	1	0
ZSWIM3	140831	broad.mit.edu	37	20	44505598	44505598	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:44505598C>T	ENST00000255152.2	+	2	610	c.401C>T	c.(400-402)aCc>aTc	p.T134I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.T128I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	134							zinc ion binding	p.T134I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CAGCCCACAACCAAAAAAGAC	0.502000													8	40					0	0	0.003080	0	0
FBN2	2201	broad.mit.edu	37	5	127686665	127686665	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:127686665G>T	ENST00000508053.1	-	27	3681	c.2707C>A	c.(2707-2709)Cag>Aag	p.Q903K	FBN2_ENST00000262464.4_Missense_Mutation_p.Q903K|FBN2_ENST00000508989.1_Missense_Mutation_p.Q870K			P35556	FBN2_HUMAN	fibrillin 2	903	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q903K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGGCTGTCCTGGATGTTGAGC	0.532000													11	64					6.40141e-05	7.81936e-05	0.010729	1	0
ATP6V1B2	526	broad.mit.edu	37	8	20073974	20073974	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:20073974A>G	ENST00000276390.2	+	11	1169	c.1129A>G	c.(1129-1131)Atc>Gtc	p.I377V		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	377					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.I377V(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		AGAGGGGCAGATCTATGTGGA	0.493000													4	35					0	0	0.000602	0	0
GJA8	2703	broad.mit.edu	37	1	147381011	147381011	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:147381011G>T	ENST00000240986.4	+	2	982	c.929G>T	c.(928-930)gGg>gTg	p.G310V	GJA8_ENST00000369235.1_Missense_Mutation_p.G310V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	310					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.G310V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGACCCCTGGGGGACTTGTCC	0.617000													6	30					0.00116845	0.00132735	0.001168	1	0
OR5D14	219436	broad.mit.edu	37	11	55563864	55563864	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:55563864T>A	ENST00000335605.1	+	1	833	c.833T>A	c.(832-834)gTa>gAa	p.V278E		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V278E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTGGCCTCTGTATTTTACACA	0.438000													4	84					0	0	0.009096	0	0
SPTA1	6708	broad.mit.edu	37	1	158627350	158627350	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:158627350G>T	ENST00000368148.3	-	19	2902	c.2722C>A	c.(2722-2724)Ctg>Atg	p.L908M	SPTA1_ENST00000368147.3_Missense_Mutation_p.L908M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	908					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L908M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTCATGCAGGTCAGCCAGG	0.483000													28	148					1.2476e-16	2.05402e-16	0.006320	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137192	40137192	+	Silent	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:40137192C>G	ENST00000278198.2	-	2	2614	c.651G>C	c.(649-651)ccG>ccC	p.P217P	LRRC4C_ENST00000527150.1_Silent_p.P217P|LRRC4C_ENST00000530763.1_Silent_p.P217P|LRRC4C_ENST00000528697.1_Silent_p.P217P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	217					regulation of axonogenesis	integral to membrane	protein binding	p.P217P(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTTTATGAGCGGTGTGAGGT	0.458000													19	93					0	0	0.008871	0	0
FAM83B	222584	broad.mit.edu	37	6	54805963	54805963	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:54805963G>A	ENST00000306858.7	+	5	2310	c.2194G>A	c.(2194-2196)Ggc>Agc	p.G732S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	732								p.G732S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCTCCAAGTGGCACTACTAC	0.408000													8	146					0	0	0.004482	0	0
IGSF3	3321	broad.mit.edu	37	1	117127643	117127643	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:117127643C>A	ENST00000369486.3	-	9	3237	c.2472G>T	c.(2470-2472)ggG>ggT	p.G824G	IGSF3_ENST00000369483.1_Silent_p.G844G|IGSF3_ENST00000318837.6_Silent_p.G844G	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	824	Ig-like C2-type 7.					integral to membrane		p.G824G(1)|p.G844G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCGACAGGTTCCCCTGGGCTT	0.562000													10	42					3.86212e-05	4.76888e-05	0.008291	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21428305	21428305	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:21428305G>C	ENST00000307378.6	-	14	2384	c.1664C>G	c.(1663-1665)aCa>aGa	p.T555R	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.T553R|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.T555R|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.T423R|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.T423R	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	555					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.T555R(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAATACTCTTGTGCAAAATGT	0.264000													5	56					0	0	0.001984	0	0
RYR3	6263	broad.mit.edu	37	15	33895447	33895447	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr15:33895447G>T	ENST00000389232.4	+	18	2116	c.2046G>T	c.(2044-2046)gtG>gtT	p.V682V	RYR3_ENST00000415757.3_Silent_p.V682V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	682	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V682V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCTGCGGGTGGGCTGGGCCT	0.577000													16	181					5.01169e-05	6.17493e-05	0.004990	1	0
NOS3	4846	broad.mit.edu	37	7	150704248	150704248	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:150704248G>T	ENST00000297494.3	+	17	2353	c.1996G>T	c.(1996-1998)Gcc>Tcc	p.A666S	NOS3_ENST00000461406.1_Missense_Mutation_p.A460S	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	666	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.A666S(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CTTTGCTCGTGCCGTGGACAC	0.697000													22	98					3.08376e-08	4.45694e-08	0.003330	1	0
HMGCS2	3158	broad.mit.edu	37	1	120298057	120298057	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:120298057G>C	ENST00000369406.3	-	6	1229	c.1180C>G	c.(1180-1182)Ctg>Gtg	p.L394V	HMGCS2_ENST00000544913.2_Missense_Mutation_p.L352V	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	394					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.L394V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CACTGGGACAGAAGCGAGGCC	0.552000													72	278					0	0	0.003610	0	0
OR7C2	26658	broad.mit.edu	37	19	15052637	15052637	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:15052637T>A	ENST00000248072.3	+	1	337	c.337T>A	c.(337-339)Ttg>Atg	p.L113M		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L113M(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CCTGGACAATTTGCTCCTGAC	0.483000													13	47					0	0	0.001855	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290756	15290756	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:15290756G>T	ENST00000378116.4	-	5	642	c.636C>A	c.(634-636)agC>agA	p.S212R		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	212						integral to membrane		p.S212R(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTCCATTACTGCTCAGCAAGT	0.572000													9	56					0.000274275	0.000323212	0.004482	1	0
EPHB6	2051	broad.mit.edu	37	7	142568118	142568118	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:142568118G>A	ENST00000392957.2	+	18	3546	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H	EPHB6_ENST00000442129.1_Missense_Mutation_p.R920H|EPHB6_ENST00000411471.2_Missense_Mutation_p.R643H|EPHB6_ENST00000476059.1_3'UTR	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	920						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R905H(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AAGATGATCCGCAAGCCAGAT	0.572000													27	111					0	0	0.006320	0	0
GDF5	8200	broad.mit.edu	37	20	34022074	34022074	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:34022074C>T	ENST00000374372.1	-	4	1642	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q	GDF5_ENST00000374369.3_Missense_Mutation_p.R380Q|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R40C			P43026	GDF5_HUMAN	growth differentiation factor 5	380			R -> Q (in BDA2; reduces activity; impairs processing).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R40C(2)|p.R380Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGGGGCCCGCCGTTTTCGCCG	0.582000													52	123					0	0	0.003610	0	0
TRIP12	9320	broad.mit.edu	37	2	230724103	230724103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:230724103G>A	ENST00000283943.5	-	3	464	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Q138*|TRIP12_ENST00000409677.1_Nonsense_Mutation_p.Q138*|TRIP12_ENST00000543084.1_Nonsense_Mutation_p.Q138*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	96					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.Q96*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCAGTATGCTGAAGTGCTTTT	0.433000													7	224					0	0	0.001984	0	0
LRRC43	254050	broad.mit.edu	37	12	122684775	122684775	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:122684775G>T	ENST00000339777.4	+	8	1417	c.1389G>T	c.(1387-1389)gaG>gaT	p.E463D	LRRC43_ENST00000425921.1_Missense_Mutation_p.E278D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	463								p.E278D(1)|p.E463D(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTGGGCTGAGGTCATCCCCT	0.652000													11	57					0.000978159	0.0011179	0.010729	1	0
RBBP6	5930	broad.mit.edu	37	16	24580932	24580932	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:24580932T>A	ENST00000319715.4	+	17	3353	c.2921T>A	c.(2920-2922)tTg>tAg	p.L974*	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.L940*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	974					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L974*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACAGACTCATTGTTTGTTCTC	0.388000													16	81					0	0	0.004007	0	0
POLQ	10721	broad.mit.edu	37	3	121217437	121217437	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:121217437C>T	ENST00000264233.5	-	13	2168	c.2040G>A	c.(2038-2040)atG>atA	p.M680I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	680					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.M815I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCACCCTTTTCATTGAAGTTG	0.423000								DNA polymerases (catalytic subunits)					9	85					0	0	0.004482	0	0
SLC28A2	9153	broad.mit.edu	37	15	45564558	45564558	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr15:45564558G>C	ENST00000347644.3	+	16	1779	c.1714G>C	c.(1714-1716)Gcc>Ccc	p.A572P	CTD-2651B20.3_ENST00000560344.1_RNA|SLC28A2_ENST00000560767.1_3'UTR|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	572					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.A572P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CTTCACAGGGGCCTGTGTATC	0.478000													10	57					0	0	0.010729	0	0
HSD3B7	80270	broad.mit.edu	37	16	30998216	30998216	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:30998216G>T	ENST00000297679.5	+	6	680	c.587G>T	c.(586-588)gGt>gTt	p.G196V	HSD3B7_ENST00000262520.6_Intron|HSD3B7_ENST00000353250.5_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	196					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	p.G196V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCATCTACGGTGAAGGCCAC	0.672000													16	70					1.67942e-08	2.45853e-08	0.006122	1	0
YY1	7528	broad.mit.edu	37	14	100743846	100743846	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:100743846G>T	ENST00000262238.4	+	5	1414	c.1154G>T	c.(1153-1155)tGc>tTc	p.C385F		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	385	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.C385F(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCCTATGTGTGCCCCTTCGAT	0.463000													7	68					2.7689e-08	4.01207e-08	0.001984	1	0
SPSB1	80176	broad.mit.edu	37	1	9416202	9416202	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:9416202G>T	ENST00000328089.6	+	2	593	c.252G>T	c.(250-252)acG>acT	p.T84T	SPSB1_ENST00000357898.3_Silent_p.T84T|SPSB1_ENST00000377399.2_Silent_p.T84T	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	84	B30.2/SPRY.				intracellular signal transduction	cytoplasm		p.T84T(1)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CCCAGAGCACGGACGCTATCA	0.602000													35	184					5.43694e-19	9.23556e-19	0.005524	1	0
PELI2	57161	broad.mit.edu	37	14	56763705	56763705	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:56763705C>T	ENST00000267460.4	+	6	1370	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	362					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	p.P362S(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CGCAGGACCGCCAACTCATGC	0.557000													9	138					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179632810	179632810	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:179632810C>A	ENST00000589042.1	-	39	9460	c.9236G>T	c.(9235-9237)tGt>tTt	p.C3079F	TTN_ENST00000360870.5_Missense_Mutation_p.C3079F|TTN_ENST00000460472.2_Missense_Mutation_p.C3033F|TTN_ENST00000342175.6_Missense_Mutation_p.C3033F|TTN_ENST00000359218.5_Missense_Mutation_p.C3033F|TTN_ENST00000591111.1_Missense_Mutation_p.C3079F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C3079F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2816	Ig-like 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C3033F(3)|p.C3079F(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAACTTCACATTCAAACAT	0.393000													12	92					1.02788e-11	1.59956e-11	0.004990	1	0
ZNF532	55205	broad.mit.edu	37	18	56620993	56620993	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr18:56620993G>C	ENST00000336078.4	+	8	3888	c.3112G>C	c.(3112-3114)Gat>Cat	p.D1038H	ZNF532_ENST00000591808.1_Missense_Mutation_p.D1038H|ZNF532_ENST00000591230.1_Missense_Mutation_p.D1038H|ZNF532_ENST00000589288.1_Missense_Mutation_p.D1038H|ZNF532_ENST00000591083.1_Missense_Mutation_p.D1038H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D1038H(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CATGCAGAGAGATGTGTACAT	0.498000													7	128					0	0	0.003080	0	0
ZNF768	79724	broad.mit.edu	37	16	30536017	30536017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:30536017C>A	ENST00000380412.5	-	2	1619	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	ZNF768_ENST00000562803.1_Nonsense_Mutation_p.E451*	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	482					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	p.E482*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAGGGCCGCTCGCCCGTGTGG	0.677000													5	26					0.000602214	0.000695239	0.000602	1	0
XIRP2	129446	broad.mit.edu	37	2	168102059	168102059	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:168102059C>G	ENST00000409195.1	+	9	4246	c.4157C>G	c.(4156-4158)tCt>tGt	p.S1386C	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1164C|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1386C|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1211					actin cytoskeleton organization	cell junction	actin binding	p.S1386C(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTTAGTTCTGTCAGATAC	0.343000													28	82					0	0	0.008361	0	0
CYFIP2	26999	broad.mit.edu	37	5	156819862	156819862	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:156819862C>T	ENST00000347377.6	+	31	4047	c.3616C>T	c.(3616-3618)Cgg>Tgg	p.R1206W	CYFIP2_ENST00000522463.1_Missense_Mutation_p.R1010W|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R1180W|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R1131W|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R1206W|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R905W|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R1231W	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1231					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.R1231W(2)|p.R1206W(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGCCGACCGGATCAGGAA	0.498000													5	95					0	0	0.001168	0	0
OAS1	4938	broad.mit.edu	37	12	113344990	113344990	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:113344990G>C	ENST00000452357.2	+	1	336	c.146G>C	c.(145-147)aGc>aCc	p.S49T	OAS1_ENST00000445409.2_Missense_Mutation_p.S49T|OAS1_ENST00000202917.5_Missense_Mutation_p.S49T|OAS1_ENST00000553185.1_Missense_Mutation_p.S49T|OAS1_ENST00000551241.1_Missense_Mutation_p.S49T	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	49					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.S49T(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TTCCGAGGTAGCTCCTACCCT	0.517000													5	74					0	0	0.001168	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565510	24565510	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:24565510A>G	ENST00000376862.3	+	3	1132	c.499A>G	c.(499-501)Aca>Gca	p.T167A		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	167					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.T167A(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTCAAGCGACACAGAGAGTGA	0.562000													19	123					0	0	0.010504	0	0
CCDC147	159686	broad.mit.edu	37	10	106209934	106209934	+	Missense_Mutation	SNP	G	G	T	rs138183014		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:106209934G>T	ENST00000369704.3	+	17	2616	c.2482G>T	c.(2482-2484)Gct>Tct	p.A828S		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	828								p.A828S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAATACCTCGCTCAGAAACG	0.323000													17	80					3.45872e-05	4.42467e-05	0.004007	1	0
FANCD2	2177	broad.mit.edu	37	3	10107090	10107090	+	Silent	SNP	G	G	T	rs142144794		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:10107090G>T	ENST00000287647.3	+	24	2274	c.2181G>T	c.(2179-2181)ccG>ccT	p.P727P	FANCD2_ENST00000419585.1_Silent_p.P727P|FANCD2_ENST00000383806.1_Silent_p.P727P|FANCD2_ENST00000383807.1_Silent_p.P727P	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	727					DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.P727P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGTGTCTCCGCTGTGCCTGG	0.443000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	99					3.45872e-05	4.42467e-05	0.004007	1	0
AP2B1	163	broad.mit.edu	37	17	33935316	33935316	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:33935316G>T	ENST00000262325.7	+	5	988	c.435G>T	c.(433-435)gtG>gtT	p.V145V	AP2B1_ENST00000538556.1_Silent_p.V88V|AP2B1_ENST00000537622.2_Silent_p.V145V|AP2B1_ENST00000312678.8_Silent_p.V145V|AP2B1_ENST00000589344.1_Silent_p.V145V|AP2B1_ENST00000592545.1_Silent_p.V107V	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	145					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	p.V145V(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CAGTCTGCGTGGCAAAACTCC	0.458000													31	103					1.30988e-24	2.30344e-24	0.010818	1	0
TRBV19	28568	broad.mit.edu	37	7	142326880	142326880	+	RNA	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:142326880C>T	ENST00000390393.3	+	0	386																											GGACCCAGGGCAAGGGCTGAG	0.468000													32	151					0	0	0.003755	0	0
SCN11A	11280	broad.mit.edu	37	3	38888217	38888217	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:38888217C>T	ENST00000302328.3	-	26	5542	c.5344G>A	c.(5344-5346)Ggg>Agg	p.G1782R	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1744R|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1782R	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1782					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1782R(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTGGCCACCCCAAAGCTAGAC	0.552000													8	63					0	0	0.003080	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43925915	43925915	+	Missense_Mutation	SNP	G	G	T	rs80268015		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:43925915G>T	ENST00000389420.3	-	3	536	c.537C>A	c.(535-537)caC>caA	p.H179Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H179Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	179						proteinaceous extracellular matrix	zinc ion binding	p.H179Q(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTGGCTTGTTGTGACCATCTT	0.358000													12	61					2.35188e-11	3.64991e-11	0.006122	1	0
PRR16	51334	broad.mit.edu	37	5	120021828	120021828	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:120021828C>T	ENST00000379551.2	+	3	627	c.270C>T	c.(268-270)atC>atT	p.I90I	PRR16_ENST00000407149.2_Silent_p.I113I|PRR16_ENST00000505123.1_Silent_p.I43I|PRR16_ENST00000446965.1_Silent_p.I43I	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	113								p.I90I(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CGTCTGCTATCCTCACGGTCC	0.527000													6	81					0	0	0.001984	0	0
NOBOX	135935	broad.mit.edu	37	7	144097292	144097292	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:144097292C>A	ENST00000467773.1	-	5	957	c.958G>T	c.(958-960)Ggg>Tgg	p.G320W	NOBOX_ENST00000483238.1_Intron|NOBOX_ENST00000223140.5_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	320					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.G320W(1)|p.?(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GAGCCGGCCCCCTTTACCATG	0.587000													10	77					6.40141e-05	7.81936e-05	0.010729	1	0
TSC1	7248	broad.mit.edu	37	9	135781380	135781380	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:135781380C>A	ENST00000298552.3	-	15	1806	c.1585G>T	c.(1585-1587)Gcc>Tcc	p.A529S	TSC1_ENST00000545250.1_Missense_Mutation_p.A478S|TSC1_ENST00000440111.2_Missense_Mutation_p.A529S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	529					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.A529S(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TTCACGCTGGCGCCCTGAGAA	0.597000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				5	28					0.000602214	0.000695239	0.000602	1	0
SLC15A1	6564	broad.mit.edu	37	13	99378453	99378453	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:99378453G>T	ENST00000376503.5	-	4	224	c.169C>A	c.(169-171)Cat>Aat	p.H57N		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	57					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	p.H57N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ACAAACGTATGGTAGATGGCG	0.498000													9	41					0.000274275	0.000323212	0.004482	1	0
EHHADH	1962	broad.mit.edu	37	3	184910894	184910894	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:184910894G>C	ENST00000231887.3	-	7	1367	c.1292C>G	c.(1291-1293)aCc>aGc	p.T431S	EHHADH_ENST00000456310.1_Missense_Mutation_p.T335S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	431	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.T431S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	AAAGAAGTGGGTGCCAATGAC	0.448000													8	76					0	0	0.003080	0	0
MYH6	4624	broad.mit.edu	37	14	23876236	23876236	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:23876236C>A	ENST00000405093.3	-	3	267	c.197G>T	c.(196-198)gGg>gTg	p.G66V	MYH6_ENST00000356287.3_Missense_Mutation_p.G66V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	66	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.G66V(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACTCACCTTCCCATTCTCGGT	0.572000													21	447					3.28513e-13	5.21216e-13	0.003954	1	0
OR10H2	26538	broad.mit.edu	37	19	15839525	15839525	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:15839525C>T	ENST00000305899.3	+	1	692	c.672C>T	c.(670-672)gcC>gcT	p.A224A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A224A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCATCGTGGCCGACATCTTGA	0.532000													5	90					0	0	0.000602	0	0
FLG2	388698	broad.mit.edu	37	1	152325492	152325492	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:152325492G>C	ENST00000388718.5	-	3	4842	c.4770C>G	c.(4768-4770)caC>caG	p.H1590Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1590							calcium ion binding|structural molecule activity	p.H1590Q(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGGTCTGTGTGAGCCCC	0.512000													46	286					0	0	0.010771	0	0
P2RX2	22953	broad.mit.edu	37	12	133196474	133196474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:133196474C>A	ENST00000389110.3	+	4	463	c.426C>A	c.(424-426)tgC>tgA	p.C142*	P2RX2_ENST00000348800.5_Nonsense_Mutation_p.C142*|P2RX2_ENST00000449132.2_Nonsense_Mutation_p.C118*|P2RX2_ENST00000343948.4_Nonsense_Mutation_p.C142*|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Nonsense_Mutation_p.C50*|P2RX2_ENST00000350048.5_Nonsense_Mutation_p.C118*	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	142					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.C142*(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		ACGCCGACTGCGTGGCTGGGG	0.697000													4	15					0.00909568	0.00991621	0.009096	1	0
OR5H6	79295	broad.mit.edu	37	3	97983997	97983997	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:97983997A>T	ENST00000383696.2	+	1	910	c.869A>T	c.(868-870)gAg>gTg	p.E290V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E290V(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GATATGATGGAGTCTCTATTT	0.403000													5	66					0	0	0.001168	0	0
DPP3	10072	broad.mit.edu	37	11	66272113	66272113	+	Missense_Mutation	SNP	G	G	C	rs35493089		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:66272113G>C	ENST00000532677.1	+	17	2367	c.1966G>C	c.(1966-1968)Ggg>Cgg	p.G656R	DPP3_ENST00000360510.2_Missense_Mutation_p.G637R|DPP3_ENST00000541961.1_Missense_Mutation_p.G637R|DPP3_ENST00000531863.1_Missense_Mutation_p.G657R|DPP3_ENST00000453114.1_Missense_Mutation_p.G637R|DPP3_ENST00000530165.1_Missense_Mutation_p.G607R	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	637					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	p.G637R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TGTGGCCGGAGGGCGGGCCCT	0.607000													10	86					0	0	0.008291	0	0
IGF1	3479	broad.mit.edu	37	12	102813420	102813420	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:102813420C>A	ENST00000456098.1	-	3	487	c.269G>T	c.(268-270)gGc>gTc	p.G90V	IGF1_ENST00000337514.6_Missense_Mutation_p.G90V|IGF1_ENST00000392904.1_Missense_Mutation_p.G90V|IGF1_ENST00000424202.2_Missense_Mutation_p.G74V|IGF1_ENST00000307046.8_Missense_Mutation_p.G90V	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	90	A.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	p.G90V(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ATCCACGATGCCTGTCTGAGG	0.572000													6	49					0.00116845	0.00132735	0.001168	1	0
PLD5	200150	broad.mit.edu	37	1	242428646	242428646	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:242428646T>A	ENST00000442594.2	-	5	833	c.324A>T	c.(322-324)aaA>aaT	p.K108N	PLD5_ENST00000427495.1_Missense_Mutation_p.K138N|PLD5_ENST00000474177.1_5'UTR|PLD5_ENST00000536534.1_Missense_Mutation_p.K200N	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	200						integral to membrane	catalytic activity	p.K200N(1)|p.K108N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TACCCTTTAATTTCAAGGCTT	0.333000													8	104					0	0	0.006214	0	0
BPIFB6	128859	broad.mit.edu	37	20	31622623	31622623	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:31622623C>G	ENST00000349552.1	+	4	357	c.357C>G	c.(355-357)aaC>aaG	p.N119K		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	119						extracellular region	lipid binding	p.N119K(1)									CAGCCACCAACCGGCTTCTGC	0.577000													26	69					0	0	0.006320	0	0
APOB	338	broad.mit.edu	37	2	21233331	21233331	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:21233331G>C	ENST00000233242.1	-	26	6536	c.6409C>G	c.(6409-6411)Cat>Gat	p.H2137D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2137	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.H2137D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCTTGGCATGTGAAACTTGT	0.338000													5	38					0	0	0.000602	0	0
DAAM1	23002	broad.mit.edu	37	14	59793303	59793303	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:59793303A>T	ENST00000395125.1	+	10	1273	c.1250A>T	c.(1249-1251)gAc>gTc	p.D417V	DAAM1_ENST00000360909.3_Missense_Mutation_p.D417V|DAAM1_ENST00000351081.1_Missense_Mutation_p.D417V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	417	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	p.D417V(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ATCCAGAATGACAAAGGACAG	0.373000													12	110					0	0	0.001855	0	0
OR2T6	254879	broad.mit.edu	37	1	248550949	248550949	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:248550949C>T	ENST00000355728.2	+	1	40	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L14F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCTTTACCCTCATGGGGCT	0.418000													50	103					0	0	0.003610	0	0
EIF1B	10289	broad.mit.edu	37	3	40352529	40352529	+	Silent	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:40352529T>A	ENST00000232905.3	+	2	435	c.177T>A	c.(175-177)ctT>ctA	p.L59L		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	59					regulation of translational initiation		protein binding|translation initiation factor activity	p.L59L(1)		central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AAAAGAAACTTGTGAAAGCTT	0.398000													7	58					0	0	0.006214	0	0
SPACA4	171169	broad.mit.edu	37	19	49110448	49110448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:49110448C>A	ENST00000321762.1	+	1	449	c.213C>A	c.(211-213)tgC>tgA	p.C71*	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	71	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane		p.C71C(1)|p.C71*(1)		central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCACCAGCTGCGGCCTTGAGG	0.652000													3	28					6.4e-05	7.81936e-05	0.004672	1	0
PRAME	23532	broad.mit.edu	37	22	22892596	22892596	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr22:22892596C>T	ENST00000543184.1	-	4	1367	c.505G>A	c.(505-507)Gag>Aag	p.E169K	PRAME_ENST00000405655.3_Missense_Mutation_p.E169K|PRAME_ENST00000398741.1_Missense_Mutation_p.E169K|PRAME_ENST00000398743.2_Missense_Mutation_p.E169K|PRAME_ENST00000539862.1_Missense_Mutation_p.E153K|PRAME_ENST00000402697.1_Missense_Mutation_p.E169K|PRAME_ENST00000424204.2_Missense_Mutation_p.E153K	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	169					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.E169K(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AAGGGCTGCTCTGCCTCTGTG	0.493000													8	89					0	0	0.003080	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932916	153932916	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:153932916G>A	ENST00000368623.3	-	3	1392	c.633C>T	c.(631-633)tgC>tgT	p.C211C	SLC39A1_ENST00000537590.1_Silent_p.C109C|SLC39A1_ENST00000310483.6_Silent_p.C211C|SLC39A1_ENST00000368621.1_Silent_p.C211C|SLC39A1_ENST00000356205.4_Silent_p.C211C			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	211						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	p.C211C(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		GCAAAGCCAGGCACAGCTCCA	0.662000													3	43					0	0	0.004672	0	0
TRIM48	79097	broad.mit.edu	37	11	55036774	55036774	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:55036774G>A	ENST00000417545.2	+	5	721	c.635G>A	c.(634-636)gGg>gAg	p.G212E		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	196						intracellular	zinc ion binding	p.G212E(1)|p.G196E(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCAGGGCAGGGCCCATCACT	0.502000													3	53					0	0	0.009096	0	0
SORCS1	114815	broad.mit.edu	37	10	108923853	108923853	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:108923853C>G	ENST00000263054.6	-	1	439	c.432G>C	c.(430-432)gaG>gaC	p.E144D	SORCS1_ENST00000344440.6_Missense_Mutation_p.E144D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	144						integral to membrane	neuropeptide receptor activity|protein binding	p.E144D(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCGGGTCCCGCTCCCGAGTCC	0.662000													6	39					0	0	0.003080	0	0
GRID2	2895	broad.mit.edu	37	4	94690466	94690466	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:94690466A>T	ENST00000282020.4	+	15	2724	c.2466A>T	c.(2464-2466)aaA>aaT	p.K822N	GRID2_ENST00000510992.1_Missense_Mutation_p.K727N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	822					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.K822N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAAAGCAGAAAGGAGGCGCCC	0.522000													6	81					0	0	0.003080	0	0
CYP4X1	260293	broad.mit.edu	37	1	47489621	47489621	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:47489621C>A	ENST00000371901.3	+	1	382	c.132C>A	c.(130-132)cgC>cgA	p.R44R	CYP4X1_ENST00000538609.1_Intron	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	44						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R44R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGGACCTGCGCCCCTTCCCAG	0.687000													5	27					0.000602214	0.000695239	0.000602	1	0
PLEKHB2	55041	broad.mit.edu	37	2	131904333	131904333	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:131904333T>C	ENST00000403716.1	+	8	1216	c.656T>C	c.(655-657)tTt>tCt	p.F219S	PLEKHB2_ENST00000439822.2_3'UTR|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.F219S|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.F227S|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.F218S|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000438882.2_3'UTR|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.F219S|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.F171S	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	219						membrane	protein binding	p.F218S(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		GGGTCTCTATTTTGGGTCTTC	0.502000													33	219					0	0	0.012213	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170347	20170347	+	RNA	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr15:20170347C>A	ENST00000338912.5	-	0	7																											CCTCCAAGTCCAGCCCATGGT	0.527000													10	127					6.40141e-05	7.81936e-05	0.010729	1	0
DMBT1	1755	broad.mit.edu	37	10	124345771	124345771	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:124345771G>T	ENST00000368909.3	+	16	1761	c.1655G>T	c.(1654-1656)gGc>gTc	p.G552V	DMBT1_ENST00000344338.3_Missense_Mutation_p.G542V|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G542V|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.G552V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	552	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.G552V(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTTGGTCAGGGCTCAGGACCC	0.592000													20	187					1.37522e-17	2.30421e-17	0.007413	1	0
TRIM49	57093	broad.mit.edu	37	11	89537473	89537473	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:89537473G>A	ENST00000329758.1	-	3	493	c.165C>T	c.(163-165)tgC>tgT	p.C55C	TRIM49_ENST00000532501.2_Silent_p.C55C	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	55						intracellular	zinc ion binding	p.C55C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTGACTTTGTGCATTCAGAGC	0.468000													17	92					0	0	0.002780	0	0
TMEM164	84187	broad.mit.edu	37	X	109388104	109388104	+	Splice_Site	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:109388104G>T	ENST00000372073.1	+	5	922	c.586_splice	c.e5+1	p.G196_splice	TMEM164_ENST00000372068.2_Splice_Site_p.G196_splice|TMEM164_ENST00000372072.3_Splice_Site_p.G47_splice|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Splice_Site_p.G157_splice			Q5U3C3	TM164_HUMAN	transmembrane protein 164	196						integral to membrane		p.G196C(1)|p.G157C(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TTGGAAAGGAGGTAAGGCCAG	0.493000													5	95					3.59834e-05	4.51182e-05	0.001168	1	0
IGKV1D-43	28891	broad.mit.edu	37	2	90248937	90248937	+	RNA	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:90248937C>T	ENST00000468879.1	+	0	199																											TGAGGGTGCCCGCTCAGCGCC	0.567000													11	82					0	0	0.008291	0	0
OR2W3	343171	broad.mit.edu	37	1	248059379	248059379	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:248059379T>A	ENST00000537741.1	+	3	748	c.491T>A	c.(490-492)cTg>cAg	p.L164Q	OR2W3_ENST00000360358.3_Missense_Mutation_p.L164Q			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L164Q(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGTGACCCTGCGCTTACCC	0.642000													14	58					0	0	0.003163	0	0
SPATA18	132671	broad.mit.edu	37	4	52926965	52926965	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:52926965G>T	ENST00000295213.4	+	3	585	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	SPATA18_ENST00000419395.2_Missense_Mutation_p.V71L|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	71					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.V71L(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TAATGATGGTGTGGAAACAAT	0.468000													18	71					1.67942e-08	2.45853e-08	0.006122	1	0
PCNT	5116	broad.mit.edu	37	21	47801665	47801665	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr21:47801665G>T	ENST00000359568.5	+	16	3329	c.3222G>T	c.(3220-3222)cgG>cgT	p.R1074R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1074					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.R1074R(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGACACTTCGGCTTCAGAGTG	0.413000													9	242					1.58986e-06	2.17601e-06	0.008291	1	0
LRP1B	53353	broad.mit.edu	37	2	141747165	141747165	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:141747165T>A	ENST00000389484.3	-	17	3677	c.2706A>T	c.(2704-2706)agA>agT	p.R902S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	902	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R902S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAAAGCCATCTCTTGGGGA	0.413000										TSP Lung(27;0.18)			22	108					0	0	0.002299	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186910	140186910	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:140186910C>A	ENST00000530339.1	+	1	138	c.138C>A	c.(136-138)ggC>ggA	p.G46G	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.G46G|PCDHA4_ENST00000512229.2_Silent_p.G46G|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1												p.G46G(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCGTGGGCCGCATCGCGC	0.662000													16	61					6.72482e-11	1.03515e-10	0.003163	1	0
NUDT8	254552	broad.mit.edu	37	11	67395479	67395479	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:67395479T>A	ENST00000376693.2	-	4	658	c.649A>T	c.(649-651)Aag>Tag	p.K217*	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	217						mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						AGGGGCTGCTTAGGGCGGGCC	0.617000													7	23					0	0	0.003080	0	0
OR13F1	138805	broad.mit.edu	37	9	107267232	107267232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:107267232C>A	ENST00000334726.2	+	1	778	c.689C>A	c.(688-690)tCa>tAa	p.S230*		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230*(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGAATCAGCTCAGTGGAAGGT	0.478000													38	144					4.92203e-23	8.62874e-23	0.006230	1	0
SLC9A4	389015	broad.mit.edu	37	2	103148979	103148979	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:103148979G>T	ENST00000295269.4	+	12	2686	c.2229G>T	c.(2227-2229)gtG>gtT	p.V743V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	743					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.V743V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TAAGGAGGGTGGCCTTAAGAC	0.502000													11	27					3.86212e-05	4.76888e-05	0.008291	1	0
HECTD2	143279	broad.mit.edu	37	10	93220264	93220264	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:93220264G>T	ENST00000446394.1	+	3	449	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S	HECTD2_ENST00000298068.5_Missense_Mutation_p.A117S|HECTD2_ENST00000371681.4_Missense_Mutation_p.A117S			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	117					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.A117S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CGAAATGAAGGCCCCAGTCCT	0.393000													30	125					2.4375e-19	4.17018e-19	0.007291	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573083	140573083	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:140573083C>G	ENST00000239446.4	+	1	1142	c.958C>G	c.(958-960)Cag>Gag	p.Q320E		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		320	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.Q320E(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATAAATATACAGGCAATGGA	0.368000													4	97					0	0	0.009096	0	0
OR4K5	79317	broad.mit.edu	37	14	20389008	20389008	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:20389008G>T	ENST00000315915.4	+	1	268	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M81I(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCCCTAAAATGATTGCAGATT	0.438000													33	362					2.80507e-11	4.34136e-11	0.012213	1	0
ITGA8	8516	broad.mit.edu	37	10	15639265	15639265	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:15639265C>G	ENST00000378076.3	-	21	2505	c.2152G>C	c.(2152-2154)Gaa>Caa	p.E718Q	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	718					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E718Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTACATTTTCCATCTTGTAC	0.448000													6	106					0	0	0.001984	0	0
COL3A1	1281	broad.mit.edu	37	2	189870935	189870935	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:189870935A>T	ENST00000304636.3	+	42	3213	c.3043A>T	c.(3043-3045)Aac>Tac	p.N1015Y	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1015	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.N1015Y(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TAATCAGGGAAACCCTGGATC	0.388000													12	60					0	0	0.010729	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735247	55735247	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:55735247G>A	ENST00000312345.2	-	1	743	c.693C>T	c.(691-693)acC>acT	p.T231T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T231T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAGATGAGCAGGTGGAGAAGG	0.403000													13	54					0	0	0.001368	0	0
RASIP1	54922	broad.mit.edu	37	19	49225186	49225186	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:49225186A>C	ENST00000222145.4	-	11	2821	c.2617T>G	c.(2617-2619)Tat>Gat	p.Y873D		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	873	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm		p.Y873D(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCCAGCTGATAGTGGCTGAGC	0.652000													8	45					0	0	0.004482	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368638	86368638	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:86368638G>C	ENST00000400286.2	-	2	2604	c.2006C>G	c.(2005-2007)aCt>aGt	p.T669S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	669						integral to membrane		p.T669S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCTTTCAGTAGTGTGATGAGT	0.443000													33	191					0	0	0.002836	0	0
HKR1	284459	broad.mit.edu	37	19	37854259	37854259	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:37854259G>T	ENST00000591471.1	+	9	2384	c.743G>T	c.(742-744)gGg>gTg	p.G248V	HKR1_ENST00000589392.1_Missense_Mutation_p.G503V|HKR1_ENST00000392153.3_Missense_Mutation_p.G502V|HKR1_ENST00000544914.1_Missense_Mutation_p.G248V|HKR1_ENST00000324411.4_Missense_Mutation_p.G521V|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.G460V			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	521					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G521V(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACACTCAGGGGAGAAGCCA	0.517000													3	35					0.004672	0.00516283	0.004672	1	0
ZMYND8	23613	broad.mit.edu	37	20	45905216	45905216	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:45905216C>A	ENST00000311275.7	-	11	1515	c.1262G>T	c.(1261-1263)gGc>gTc	p.G421V	ZMYND8_ENST00000471951.2_Missense_Mutation_p.G441V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.G448V|ZMYND8_ENST00000396281.4_Missense_Mutation_p.G421V|ZMYND8_ENST00000461685.1_Missense_Mutation_p.G441V|ZMYND8_ENST00000355972.4_Missense_Mutation_p.G421V|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000372023.3_Missense_Mutation_p.G416V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.G416V|ZMYND8_ENST00000458360.2_Missense_Mutation_p.G416V|ZMYND8_ENST00000540497.1_Missense_Mutation_p.G416V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.G358V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.G421V|ZMYND8_ENST00000352431.2_Missense_Mutation_p.G441V			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	421							protein binding|zinc ion binding	p.G441V(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AATCCGGCGGCCTGTGCCCCC	0.577000													9	87					0.000978159	0.0011179	0.010729	1	0
KANSL1L	151050	broad.mit.edu	37	2	210887823	210887823	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:210887823A>T	ENST00000281772.9	-	15	3077	c.2814T>A	c.(2812-2814)gaT>gaA	p.D938E	KANSL1L_ENST00000418791.1_Missense_Mutation_p.D896E	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	938								p.D938E(1)									TTTCAACCTGATCCTTTTTTT	0.448000													10	69					0	0	0.006214	0	0
ZFP69	339559	broad.mit.edu	37	1	40961204	40961204	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:40961204G>A	ENST00000372706.1	+	6	2060	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	ZFP69_ENST00000372705.3_Missense_Mutation_p.E352K|RP11-656D10.3_ENST00000450713.1_RNA					ZFP69 zinc finger protein									p.E352K(1)									TCACACTGGGGAGAAACCCTA	0.418000													15	110					0	0	0.004007	0	0
SPAG9	9043	broad.mit.edu	37	17	49156969	49156969	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:49156969T>A	ENST00000262013.7	-	2	608	c.400A>T	c.(400-402)Aaa>Taa	p.K134*	RP11-481C4.1_ENST00000509833.1_RNA|SPAG9_ENST00000357122.4_Nonsense_Mutation_p.K134*|SPAG9_ENST00000505279.1_Nonsense_Mutation_p.K134*	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	134					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.K134*(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTTTTCGCTTTCAGCTCAAGT	0.398000													31	144					0	0	0.012213	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971137	31971137	+	Silent	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr21:31971137T>A	ENST00000334897.3	-	1	82	c.57A>T	c.(55-57)ggA>ggT	p.G19G		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	19						intermediate filament		p.G19G(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GGCCTTCGTATCCACAGCACC	0.567000													9	70					0	0	0.008291	0	0
FCER1A	2205	broad.mit.edu	37	1	159275977	159275977	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:159275977G>T	ENST00000368115.1	+	5	630	c.531G>T	c.(529-531)acG>acT	p.T177T	FCER1A_ENST00000368114.1_Silent_p.T144T	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	177	Ig-like 2.					integral to plasma membrane		p.T177T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACTACTGTACGGGCAAAGTGT	0.438000													32	81					2.08457e-15	3.39265e-15	0.010818	1	0
NEGR1	257194	broad.mit.edu	37	1	72400931	72400931	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:72400931C>A	ENST00000357731.4	-	2	479	c.240G>T	c.(238-240)gcG>gcT	p.A80A	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Silent_p.A78A|NEGR1_ENST00000306821.3_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	80	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane		p.A80A(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TATCACCTCCCGCAAAAATAA	0.398000													15	67					4.7546e-09	7.01458e-09	0.004007	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128862031	128862031	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:128862031A>T	ENST00000274487.4	+	4	1095	c.950A>T	c.(949-951)tAt>tTt	p.Y317F	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	317					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y317F(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGGAAACGATATTCATACAAA	0.393000													5	77					0	0	0.001168	0	0
UST	10090	broad.mit.edu	37	6	149275032	149275032	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:149275032A>G	ENST00000367463.4	+	4	575	c.472A>G	c.(472-474)Act>Gct	p.T158A		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	158					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	p.T158A(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		AAATATAAGTACTGCCGAACA	0.299000													4	35					0	0	0.001168	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84604696	84604696	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:84604696C>G	ENST00000344803.2	+	2	237	c.190C>G	c.(190-192)Cag>Gag	p.Q64E		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.Q64E(2)									TTCTCAGCATCAGGGCAGAGC	0.438000													7	41					0	0	0.003080	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17362912	17362912	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:17362912G>C	ENST00000377602.4	-	8	1236	c.1162C>G	c.(1162-1164)Ctc>Gtc	p.L388V		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	388					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.L388V(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TGCAGTTTGAGGATTCCTTTC	0.363000													22	271					0	0	0.002780	0	0
GEN1	348654	broad.mit.edu	37	2	17953925	17953925	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:17953925A>G	ENST00000381254.2	+	8	1041	c.827A>G	c.(826-828)aAt>aGt	p.N276S	GEN1_ENST00000317402.7_Missense_Mutation_p.N276S|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	276					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	p.R275fs*37(2)|p.N276S(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATGAACGTAATGGATGCAGA	0.353000								Homologous recombination					5	81					0	0	0.000602	0	0
NAV3	89795	broad.mit.edu	37	12	78569175	78569175	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:78569175G>C	ENST00000397909.2	+	25	5244	c.5071G>C	c.(5071-5073)Gcc>Ccc	p.A1691P	NAV3_ENST00000536525.2_Missense_Mutation_p.A1691P|NAV3_ENST00000266692.7_Missense_Mutation_p.A1514P|NAV3_ENST00000228327.6_Missense_Mutation_p.A1691P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1691						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A1691P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGTAATGATGCCGACTCCAA	0.393000										HNSCC(70;0.22)			5	93					0	0	0.001168	0	0
HOXA2	3199	broad.mit.edu	37	7	27140891	27140891	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:27140891C>A	ENST00000222718.5	-	2	895	c.585G>T	c.(583-585)agG>agT	p.R195S		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	195						nucleus	sequence-specific DNA binding transcription factor activity	p.R195S(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGTGCTTCATCCTCCGGTTCT	0.493000													17	85					6.94344e-10	1.05451e-09	0.006122	1	0
CLEC3A	10143	broad.mit.edu	37	16	78064459	78064459	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:78064459C>A	ENST00000299642.4	+	3	427	c.342C>A	c.(340-342)ccC>ccA	p.P114P	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.P105P|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	105	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.P105P(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TGGTTATCCCCAGGAACTCCG	0.473000													6	63					2.7689e-08	4.01207e-08	0.001984	1	0
SPAM1	6677	broad.mit.edu	37	7	123594501	123594501	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:123594501G>C	ENST00000340011.5	+	3	1234	c.877G>C	c.(877-879)Gat>Cat	p.D293H	SPAM1_ENST00000439500.1_Missense_Mutation_p.D293H|SPAM1_ENST00000460182.1_Missense_Mutation_p.D293H|SPAM1_ENST00000223028.7_Missense_Mutation_p.D293H|SPAM1_ENST00000402183.2_Missense_Mutation_p.D293H	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	293					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.D293H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAAAATACCTGATGCAAAAAG	0.413000													14	58					0	0	0.003163	0	0
CDH9	1007	broad.mit.edu	37	5	26881273	26881273	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:26881273T>A	ENST00000231021.4	-	12	2514	c.2342A>T	c.(2341-2343)tAt>tTt	p.Y781F		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	781					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y781F(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCACCCCCATACATATCGGC	0.413000													41	181					0	0	0.003610	0	0
NFXL1	152518	broad.mit.edu	37	4	47900034	47900034	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:47900034C>A	ENST00000507489.1	-	9	1330	c.1154G>T	c.(1153-1155)tGt>tTt	p.C385F	NFXL1_ENST00000329043.3_Missense_Mutation_p.C385F|NFXL1_ENST00000381538.3_Missense_Mutation_p.C385F	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	385						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C385F(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ACATTCTCCACAAGCACCAAC	0.358000													5	48					5.9392e-07	8.24808e-07	0.001168	1	0
KIAA1210	57481	broad.mit.edu	37	X	118284525	118284525	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:118284525C>A	ENST00000402510.2	-	1	17	c.18G>T	c.(16-18)acG>acT	p.T6T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	6								p.T6T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGCCTCGAGGCGTCCAGCCGG	0.652000													8	70					2.17888e-05	2.80635e-05	0.006214	1	0
HCK	3055	broad.mit.edu	37	20	30662469	30662469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:30662469G>T	ENST00000534862.1	+	6	676	c.313G>T	c.(313-315)Gag>Tag	p.E105*	HCK_ENST00000375852.2_Nonsense_Mutation_p.E125*|HCK_ENST00000538448.1_Nonsense_Mutation_p.E104*|HCK_ENST00000520553.1_Nonsense_Mutation_p.E104*|HCK_ENST00000518730.1_Nonsense_Mutation_p.E103*|HCK_ENST00000375862.2_Nonsense_Mutation_p.E124*	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	125	SH3.		M -> L (in dbSNP:rs55722810).		interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E125*(1)|p.E104*(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CACCCGGAAGGAGGGCTACAT	0.542000													14	102					0.000422831	0.000496215	0.004007	1	0
UNC5C	8633	broad.mit.edu	37	4	96124011	96124011	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:96124011C>A	ENST00000453304.1	-	12	2355	c.2007G>T	c.(2005-2007)ctG>ctT	p.L669L		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	669					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.L669L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AATGTCCTACCAGGGCGTAGG	0.597000													16	90					3.32936e-07	4.64638e-07	0.006122	1	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													4	64					0	0	0.010729	0	0
NDST4	64579	broad.mit.edu	37	4	115997569	115997569	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:115997569G>T	ENST00000264363.2	-	2	1302	c.624C>A	c.(622-624)ccC>ccA	p.P208P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	208	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.P208P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTCAACCTTGGGGGCTTTGG	0.398000													21	111					7.41877e-09	1.09167e-08	0.012319	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774087	140774087	+	Silent	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:140774087A>G	ENST00000398604.2	+	1	1707	c.1707A>G	c.(1705-1707)acA>acG	p.T569T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1												p.T569T(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)			CCCTCCCCACAGACGGTTCCA	0.667000													6	117					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113668537	113668537	+	Silent	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:113668537T>C	ENST00000297405.5	-	18	3094	c.2850A>G	c.(2848-2850)gaA>gaG	p.E950E	CSMD3_ENST00000343508.3_Silent_p.E910E|CSMD3_ENST00000455883.2_Silent_p.E846E|CSMD3_ENST00000352409.3_Silent_p.E950E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	950	CUB 5.					integral to membrane|plasma membrane		p.E950E(1)|p.E910E(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						CATCATGAACTTCCAGAACAT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	77					0	0	0.000602	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851954	14851954	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr18:14851954T>G	ENST00000358984.4	+	36	3834	c.3654T>G	c.(3652-3654)gaT>gaG	p.D1218E		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1303								p.D1218E(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGAATGTTGATGTGAGTAATA	0.368000													5	18					0	0	0.001984	0	0
TPTE	7179	broad.mit.edu	37	21	10934071	10934071	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr21:10934071G>T	ENST00000298232.7	-	15	1219	c.852C>A	c.(850-852)atC>atA	p.I284I	TPTE_ENST00000361285.4_Silent_p.I302I|TPTE_ENST00000342420.5_Silent_p.I264I|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	302	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I284I(1)|p.I302I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCAATCATGATTCTAACGA	0.313000													16	291					7.07596e-05	8.62477e-05	0.006122	1	0
NSUN6	221078	broad.mit.edu	37	10	18940128	18940128	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:18940128G>C	ENST00000377304.4	-	1	423	c.5C>G	c.(4-6)tCt>tGt	p.S2C	RP11-139J15.7_ENST00000606425.1_Intron	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	2							methyltransferase activity|RNA binding	p.S2C(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGGAAAATAGACATTTTTCC	0.343000													9	102					0	0	0.010729	0	0
ZNF665	79788	broad.mit.edu	37	19	53667774	53667774	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:53667774T>A	ENST00000600412.1	-	2	1889	c.1774A>T	c.(1774-1776)Aac>Tac	p.N592Y	ZNF665_ENST00000396424.3_Missense_Mutation_p.N657Y			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N592Y(1)|p.N657Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CCACATTGGTTACATTTGTAA	0.428000													12	42					0	0	0.010729	0	0
LCT	3938	broad.mit.edu	37	2	136567022	136567022	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:136567022C>A	ENST00000264162.2	-	8	2905	c.2895G>T	c.(2893-2895)atG>atT	p.M965I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	965	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.M965I(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAGCTCGGAGCATATTCAGAT	0.502000													11	85					0.010729	0.0116522	0.010729	1	0
TTN	7273	broad.mit.edu	37	2	179614245	179614245	+	Silent	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:179614245A>G	ENST00000360870.5	-	46	13104	c.12882T>C	c.(12880-12882)ttT>ttC	p.F4294F	TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	427	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGGGAGTAAAGGGACCAG	0.393000													9	110					0	0	0.004482	0	0
TPO	7173	broad.mit.edu	37	2	1520666	1520666	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:1520666C>A	ENST00000345913.4	+	15	2621	c.2530C>A	c.(2530-2532)Ctc>Atc	p.L844I	TPO_ENST00000349624.3_Missense_Mutation_p.L671I|TPO_ENST00000346956.3_Missense_Mutation_p.L800I|TPO_ENST00000337415.3_Missense_Mutation_p.L844I|TPO_ENST00000329066.4_Missense_Mutation_p.L844I|TPO_ENST00000382198.1_Missense_Mutation_p.L671I|TPO_ENST00000382201.3_Missense_Mutation_p.L787I|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	844					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.L844I(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCCGGGAGGCTCCCTCGGGT	0.602000													11	52					3.86212e-05	4.76888e-05	0.008291	1	0
MAGI1	9223	broad.mit.edu	37	3	65342407	65342407	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:65342407C>G	ENST00000402939.2	-	23	4034	c.4035G>C	c.(4033-4035)aaG>aaC	p.K1345N	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1374					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.K1345N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CGTCTCGTCTCTTCTCGTGCT	0.692000													12	56					0	0	0.002450	0	0
LAMC3	10319	broad.mit.edu	37	9	133932433	133932433	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:133932433C>G	ENST00000361069.4	+	12	2190	c.2057C>G	c.(2056-2058)tCc>tGc	p.S686C	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	686	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity	p.S686C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTCTGTGAATCCTGTGCTCCG	0.622000													13	100					0	0	0.002450	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920563	5920563	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:5920563C>A	ENST00000399933.3	-	8	5432	c.5433G>T	c.(5431-5433)tcG>tcT	p.S1811S	KIAA2026_ENST00000381461.2_Silent_p.S1781S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1811								p.S986S(1)|p.S1811S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGAAAGGGACGACAATTCAG	0.398000													41	527					5.44703e-19	9.23556e-19	0.009718	1	0
LPA	4018	broad.mit.edu	37	6	161032655	161032655	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:161032655G>T	ENST00000447678.1	-	17	2662	c.2542C>A	c.(2542-2544)Caa>Aaa	p.Q848K	LPA_ENST00000316300.5_Missense_Mutation_p.Q848K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3356	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.Q848K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GACCAAGCTTGGCAGGTTCTT	0.507000													38	242					9.59449e-18	1.61711e-17	0.003610	1	0
PCDH15	65217	broad.mit.edu	37	10	55582022	55582022	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:55582022G>C	ENST00000361849.3	-	34	5864	c.5470C>G	c.(5470-5472)Cct>Gct	p.P1824A	PCDH15_ENST00000395432.2_Missense_Mutation_p.P1782A|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1822A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1819A|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1799A|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1753A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1822					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1822A(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				atagaaggaggtggtggagga	0.493000										HNSCC(58;0.16)			4	59					0	0	0.009096	0	0
FGB	2244	broad.mit.edu	37	4	155489541	155489541	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:155489541G>A	ENST00000302068.4	+	5	790	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	FGB_ENST00000509493.1_Missense_Mutation_p.E24K|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	243	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.E243K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGAATGTGAGGAAATTATCAG	0.318000													4	79					0	0	0.000602	0	0
EDN3	1908	broad.mit.edu	37	20	57896227	57896227	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:57896227C>A	ENST00000311585.7	+	3	891	c.521C>A	c.(520-522)aCc>aAc	p.T174N	EDN3_ENST00000371028.2_Missense_Mutation_p.T174N|EDN3_ENST00000337938.2_Missense_Mutation_p.T174N|EDN3_ENST00000395654.3_Missense_Mutation_p.T174N|EDN3_ENST00000371025.3_Missense_Mutation_p.T174N	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	174					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.T174N(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CACTTTTGCACCCAAACTCTG	0.567000													7	121					1.12685e-05	1.47818e-05	0.004482	1	0
MED13L	23389	broad.mit.edu	37	12	116421096	116421096	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:116421096G>A	ENST00000281928.3	-	21	4987	c.4781C>T	c.(4780-4782)cCt>cTt	p.P1594L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1594	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.P1594L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCTAATACCAGGAGCAGAGGC	0.507000													5	36					0	0	0.001168	0	0
ADAM11	4185	broad.mit.edu	37	17	42853507	42853507	+	Missense_Mutation	SNP	G	G	T	rs138490145		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:42853507G>T	ENST00000200557.6	+	18	1667	c.1498G>T	c.(1498-1500)Ggt>Tgt	p.G500C	ADAM11_ENST00000535346.1_Missense_Mutation_p.G300C	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	500	Disintegrin.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G500C(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CGAACCACGGGGTGTGTCCTG	0.687000													8	103					2.52707e-12	3.9542e-12	0.006214	1	0
ANXA1	301	broad.mit.edu	37	9	75778406	75778406	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:75778406G>A	ENST00000376911.1	+	7	1452	c.570G>A	c.(568-570)gaG>gaA	p.E190E	ANXA1_ENST00000257497.6_Silent_p.E190E			P04083	ANXA1_HUMAN	annexin A1	190					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	p.E190E(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACCGATCTGAGGACTTTGGTG	0.388000													16	64					0	0	0.004990	0	0
FGF23	8074	broad.mit.edu	37	12	4488554	4488554	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:4488554G>T	ENST00000237837.1	-	1	340	c.195C>A	c.(193-195)ccC>ccA	p.P65P		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	65					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.P65P(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGGTCTGATGGGGTGCGCCAT	0.587000													5	115					4.096e-09	6.07449e-09	0.001168	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250586	140250586	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:140250586C>A	ENST00000398640.2	+	1	1898	c.1898C>A	c.(1897-1899)aCg>aAg	p.T633K	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1												p.T633K(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGCACAACGCGTGCCCTG	0.662000													10	44					5.50884e-06	7.32791e-06	0.001368	1	0
WSCD1	23302	broad.mit.edu	37	17	6021461	6021461	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:6021461G>C	ENST00000574946.1	+	8	1718	c.1328G>C	c.(1327-1329)tGt>tCt	p.C443S	WSCD1_ENST00000573634.1_Missense_Mutation_p.C327S|WSCD1_ENST00000539421.1_Missense_Mutation_p.C443S|WSCD1_ENST00000574232.1_Missense_Mutation_p.C443S|WSCD1_ENST00000317744.5_Missense_Mutation_p.C443S			Q658N2	WSCD1_HUMAN	WSC domain containing 1	443						integral to membrane	sulfotransferase activity	p.C443S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AACAGAAAATGTGCCGGGCAC	0.542000													13	24					0	0	0.004007	0	0
ASTN1	460	broad.mit.edu	37	1	176863929	176863929	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:176863929T>A	ENST00000367654.2	-	17	2746	c.2733A>T	c.(2731-2733)agA>agT	p.R911S	ASTN1_ENST00000367657.3_Missense_Mutation_p.R903S|ASTN1_ENST00000424564.2_Missense_Mutation_p.R903S|ASTN1_ENST00000361833.2_Missense_Mutation_p.R903S			O14525	ASTN1_HUMAN	astrotactin 1	911					cell migration|neuron cell-cell adhesion	integral to membrane		p.R903S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTTGGGGTCTCTTTCCCGCT	0.522000													41	158					0	0	0.003610	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136858	40136858	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:40136858G>A	ENST00000278198.2	-	2	2948	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R329W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	329	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.R329W(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTTACACCGGGCACAACAA	0.502000													4	44					0	0	0.009096	0	0
UGGT1	56886	broad.mit.edu	37	2	128941255	128941255	+	Silent	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:128941255A>G	ENST00000375990.3	+	38	4582	c.4179A>G	c.(4177-4179)ctA>ctG	p.L1393L	UGGT1_ENST00000259253.6_Silent_p.L1417L			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1417	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.L1417L(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGTGCACTATATGTTGTGG	0.433000													11	59					0	0	0.001368	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394396	233394396	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:233394396G>A	ENST00000258229.8	-	5	1446	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	404						integral to membrane		p.T404T(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTTTACACTGGTCTTCTCTG	0.527000													7	130					0	0	0.001984	0	0
LRRC58	116064	broad.mit.edu	37	3	120053875	120053875	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:120053875C>T	ENST00000295628.3	-	3	836	c.741G>A	c.(739-741)ttG>ttA	p.L247L		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	247								p.L247L(1)		large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		AACGAACAACCAATGGATTTC	0.403000													5	45					0	0	0.001168	0	0
C20orf195	79025	broad.mit.edu	37	20	62187726	62187726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:62187726C>A	ENST00000370098.3	+	2	802	c.710C>A	c.(709-711)tCg>tAg	p.S237*	C20orf195_ENST00000370097.1_Nonsense_Mutation_p.S237*	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	237								p.S237*(1)		large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCAGCCACATCGGAGCAGTAT	0.652000													43	136					8.20599e-20	1.41242e-19	0.011902	1	0
CORIN	10699	broad.mit.edu	37	4	47765481	47765481	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:47765481G>T	ENST00000273857.4	-	4	531	c.532C>A	c.(532-534)Ctc>Atc	p.L178I	CORIN_ENST00000504584.1_Missense_Mutation_p.L178I|CORIN_ENST00000502252.1_Missense_Mutation_p.L111I|CORIN_ENST00000505909.1_Missense_Mutation_p.L178I|CORIN_ENST00000508498.1_Missense_Mutation_p.L39I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	178	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.L178I(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGCGATGGAGATATGTGAAA	0.493000													6	44					3.59834e-05	4.51182e-05	0.001168	1	0
FLNB	2317	broad.mit.edu	37	3	58120479	58120479	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:58120479C>A	ENST00000357272.4	+	27	4816	c.4651C>A	c.(4651-4653)Ctg>Atg	p.L1551M	FLNB_ENST00000429972.2_Missense_Mutation_p.L1551M|FLNB_ENST00000419752.2_Missense_Mutation_p.L1382M|FLNB_ENST00000493452.1_Missense_Mutation_p.L1382M|FLNB_ENST00000490882.1_Missense_Mutation_p.L1582M|FLNB_ENST00000358537.3_Missense_Mutation_p.L1551M|FLNB_ENST00000348383.5_Missense_Mutation_p.L1551M|FLNB_ENST00000295956.4_Missense_Mutation_p.L1551M			O75369	FLNB_HUMAN	filamin B, beta	1551					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.L1551M(1)|p.L1582M(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGGGGAAGGCCTGCTTGCTGT	0.483000													10	129					1.41608e-15	2.31796e-15	0.001855	1	0
TRPC7	57113	broad.mit.edu	37	5	135549258	135549258	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:135549258G>T	ENST00000513104.1	-	12	2736	c.2454C>A	c.(2452-2454)agC>agA	p.S818R	TRPC7_ENST00000355180.3_Missense_Mutation_p.S757R|TRPC7_ENST00000426057.2_Missense_Mutation_p.S702R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	818					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.S818R(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATAGCGCAGGCTGGAGATAT	0.483000													13	42					5.50884e-06	7.32791e-06	0.001368	1	0
VANGL2	57216	broad.mit.edu	37	1	160388876	160388876	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:160388876A>T	ENST00000368061.2	+	4	751	c.277A>T	c.(277-279)Aag>Tag	p.K93*		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	93					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.K93*(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACGCATCGCCAAGGACATGGA	0.612000													6	124					0	0	0.001168	0	0
BTD	686	broad.mit.edu	37	3	15677046	15677046	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:15677046G>T	ENST00000383778.4	+	2	458	c.100G>T	c.(100-102)Gag>Tag	p.E34*	BTD_ENST00000449107.1_Nonsense_Mutation_p.E56*|BTD_ENST00000437172.1_Nonsense_Mutation_p.E56*|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000303498.5_Nonsense_Mutation_p.E54*			P43251	BTD_HUMAN	biotinidase	54					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	p.E54*(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TGACCATCACGAGGCTGAATA	0.562000													14	91					3.27435e-08	4.70844e-08	0.002450	1	0
FAM57B	83723	broad.mit.edu	37	16	30038006	30038006	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:30038006C>T	ENST00000380495.4	-	3	1099	c.368G>A	c.(367-369)cGt>cAt	p.R123H	FAM57B_ENST00000564806.1_Missense_Mutation_p.R73H|FAM57B_ENST00000279389.4_Missense_Mutation_p.R73H	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	123	TLC.					endoplasmic reticulum|integral to membrane		p.R123H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CAGGTAGCCACGCGCTATGGC	0.652000													5	26					0	0	0.001168	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								13	37					0	0	0.002450	0	0
PKHD1	5314	broad.mit.edu	37	6	51524526	51524526	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:51524526C>T	ENST00000371117.3	-	61	10673	c.10398G>A	c.(10396-10398)agG>agA	p.R3466R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3466					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R3466R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGTGATTTGCCTGATGGGTA	0.408000													12	158					0	0	0.010729	0	0
CD109	135228	broad.mit.edu	37	6	74521964	74521964	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:74521964G>C	ENST00000437994.2	+	29	4119	c.3688G>C	c.(3688-3690)Gca>Cca	p.A1230P	CD109_ENST00000287097.5_Missense_Mutation_p.A1247P|CD109_ENST00000422508.2_Missense_Mutation_p.A1170P	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1247						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A1247P(1)|p.A1247T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAATATTTCCGCAAATGGTTT	0.333000													36	74					0	0	0.007835	0	0
FBLN1	2192	broad.mit.edu	37	22	45929753	45929753	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr22:45929753G>T	ENST00000348697.2	+	7	906	c.759G>T	c.(757-759)gaG>gaT	p.E253D	FBLN1_ENST00000340923.5_Missense_Mutation_p.E253D|FBLN1_ENST00000442170.2_Missense_Mutation_p.E253D|FBLN1_ENST00000402984.3_Missense_Mutation_p.E291D|FBLN1_ENST00000327858.6_Missense_Mutation_p.E253D|FBLN1_ENST00000262722.7_Missense_Mutation_p.E253D			P23142	FBLN1_HUMAN	fibulin 1	253	EGF-like 2; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.E253D(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTGGCTATGAGCTCACAGAGG	0.612000													11	141					2.80697e-09	4.18468e-09	0.010729	1	0
KLK8	11202	broad.mit.edu	37	19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	rs56296296	byFrequency	TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:51499377C>T	ENST00000600767.1	-	7	1210	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000598195.1_5'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	241	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.V286I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542000													15	178					0	0	0.004990	0	0
PREX1	57580	broad.mit.edu	37	20	47268039	47268039	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:47268039G>T	ENST00000396220.1	-	22	2572	c.2550C>A	c.(2548-2550)caC>caA	p.H850Q	PREX1_ENST00000371941.3_Missense_Mutation_p.H850Q			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	850					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.H850Q(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGTGTTCCAGGTGCACGTTGT	0.632000													22	47					9.86323e-18	1.65749e-17	0.003954	1	0
SDK2	54549	broad.mit.edu	37	17	71346482	71346482	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:71346482T>A	ENST00000392650.3	-	43	5932	c.5932A>T	c.(5932-5934)Agc>Tgc	p.S1978C	SDK2_ENST00000388726.3_Missense_Mutation_p.S1959C|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1978					cell adhesion	integral to membrane		p.S1978C(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATCATCTCGCTGTGGCCTAGG	0.567000													13	18					0	0	0.002450	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189058	140189058	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:140189058G>T	ENST00000530339.1	+	1	2286	c.2286G>T	c.(2284-2286)gaG>gaT	p.E762D	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E762D|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E762D|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1												p.E762D(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTGGTGAGGGCCCACCCA	0.622000													21	69					2.4624e-09	3.68063e-09	0.008871	1	0
ROR2	4920	broad.mit.edu	37	9	94486199	94486199	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:94486199G>A	ENST00000375708.3	-	9	2775	c.2577C>T	c.(2575-2577)ccC>ccT	p.P859P	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	859	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.P859P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTGTGAGCTGGGCTTGGGGA	0.652000													9	68					0	0	0.006214	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73952477	73952477	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:73952477G>C	ENST00000476977.1	+	12	3112	c.1421G>C	c.(1420-1422)gGc>gCc	p.G474A	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.G474A|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.G506A|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.G474A			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	474						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.G474A(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGACAAGGGCAGCATGTCT	0.652000													6	80					0	0	0.003080	0	0
WSCD2	9671	broad.mit.edu	37	12	108600180	108600180	+	Splice_Site	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:108600180G>T	ENST00000332082.4	+	4	1315	c.497_splice	c.e4+1	p.R166_splice	WSCD2_ENST00000547525.1_Splice_Site_p.R166_splice|WSCD2_ENST00000549903.1_Splice_Site_p.R166_splice|WSCD2_ENST00000261400.3_Splice_Site_p.R166_splice			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	166	WSC 1.					integral to membrane		p.R166L(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGTGCTGAACGGTAGGGTCCC	0.527000													4	37					1.23904e-05	1.61416e-05	0.000602	1	0
CIT	11113	broad.mit.edu	37	12	120214178	120214178	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:120214178T>A	ENST00000392521.2	-	15	1926	c.1871A>T	c.(1870-1872)tAt>tTt	p.Y624F	CIT_ENST00000261833.7_Missense_Mutation_p.Y624F|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	624					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.Y624F(2)|p.Y625F(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGTTTCGCATATTCTCCCAC	0.358000													48	199					0	0	0.003610	0	0
RANBP2	5903	broad.mit.edu	37	2	109382540	109382540	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:109382540G>A	ENST00000283195.6	+	20	5671	c.5545G>A	c.(5545-5547)Gct>Act	p.A1849T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1849					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.A1849T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTCAGAAAAAGCTTCTAAGTT	0.383000													13	215					0	0	0.001368	0	0
PREX2	80243	broad.mit.edu	37	8	68942818	68942818	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:68942818C>T	ENST00000288368.4	+	6	907	c.630C>T	c.(628-630)aaC>aaT	p.N210N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	210	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.N210N(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTGTTCCAACATAAACGAGG	0.468000													32	73					0	0	0.003271	0	0
TBRG4	9238	broad.mit.edu	37	7	45141142	45141142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:45141142G>A	ENST00000258770.3	-	9	1760	c.1639C>T	c.(1639-1641)Cag>Tag	p.Q547*	TBRG4_ENST00000395655.4_Nonsense_Mutation_p.Q437*|TBRG4_ENST00000494076.1_Nonsense_Mutation_p.Q547*|TBRG4_ENST00000361278.3_Nonsense_Mutation_p.Q437*	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	547					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	p.Q547*(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CCAGTTGGCTGGGCAAGGTGA	0.592000													5	19					0	0	0.000602	0	0
RNASE2	6036	broad.mit.edu	37	14	21424014	21424014	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:21424014A>T	ENST00000304625.2	+	2	174	c.84A>T	c.(82-84)aaA>aaT	p.K28N		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	28					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.K28N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCCATGTCAAACCTCCACAGT	0.453000													5	56					0	0	0.000602	0	0
NOTCH4	4855	broad.mit.edu	37	6	32181503	32181503	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:32181503C>A	ENST00000375023.3	-	14	2420	c.2282G>T	c.(2281-2283)gGg>gTg	p.G761V	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	761	EGF-like 19.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.G761V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCACTGGGGCCCTGTGTGGCT	0.587000													14	90					2.32078e-09	3.47812e-09	0.003163	1	0
CDH13	1012	broad.mit.edu	37	16	83378559	83378559	+	Silent	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:83378559G>C	ENST00000566620.1	+	6	1019	c.729G>C	c.(727-729)ccG>ccC	p.P243P	CDH13_ENST00000428848.3_Silent_p.P204P|CDH13_ENST00000268613.10_Silent_p.P290P|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	243	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.P243P(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACAACCGACCGATCTTTCGGG	0.507000													13	67					0	0	0.001855	0	0
PLG	5340	broad.mit.edu	37	6	161173185	161173185	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:161173185C>A	ENST00000308192.9	+	18	2227	c.2164C>A	c.(2164-2166)Cct>Act	p.P722T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	722	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.P722T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGCCCAGCTCCCTGTGATTGA	0.473000													16	48					0.00316338	0.00354398	0.003163	1	0
BTRC	8945	broad.mit.edu	37	10	103292158	103292158	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:103292158T>C	ENST00000370187.3	+	8	1065	c.947T>C	c.(946-948)aTa>aCa	p.I316T	BTRC_ENST00000393441.4_Missense_Mutation_p.I275T|BTRC_ENST00000408038.2_Missense_Mutation_p.I280T	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	316					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		p.I316T(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GATCAGAAAATAGTAAGCGGC	0.413000													10	112					0	0	0.010729	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310107	117310107	+	Missense_Mutation	SNP	C	C	A	rs61730454	byFrequency	TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:117310107C>A	ENST00000321322.6	-	23	4200	c.4199G>T	c.(4198-4200)cGg>cTg	p.R1400L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1130L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1340	Fibronectin type-III 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.R1400L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGATGAGCCGGTGCCCATC	0.622000													20	46					8.34094e-07	1.14713e-06	0.008871	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177403	89177403	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:89177403C>G	ENST00000561129.2	+	1	449	c.319C>G	c.(319-321)Cgc>Ggc	p.R107G	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R107G			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R107G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGCTCGCAGACGCATTCTCCC	0.493000													16	150					0	0	0.010504	0	0
PTHLH	5744	broad.mit.edu	37	12	28116578	28116578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:28116578G>T	ENST00000535992.1	-	3	573	c.227C>A	c.(226-228)tCg>tAg	p.S76*	RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395868.3_Nonsense_Mutation_p.S76*|PTHLH_ENST00000545234.1_Nonsense_Mutation_p.S76*|PTHLH_ENST00000395872.1_Nonsense_Mutation_p.S76*|PTHLH_ENST00000538310.1_Nonsense_Mutation_p.S76*|PTHLH_ENST00000354417.3_Nonsense_Mutation_p.S76*|PTHLH_ENST00000539239.1_Nonsense_Mutation_p.S76*|PTHLH_ENST00000201015.4_Nonsense_Mutation_p.S76*			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	76					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	p.S76*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GGACACCTCCGAGGTAGCTCT	0.512000													22	195					3.28513e-13	5.21216e-13	0.003954	1	0
MPDZ	8777	broad.mit.edu	37	9	13125264	13125264	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:13125264C>T	ENST00000319217.7	-	35	5005	c.4758G>A	c.(4756-4758)caG>caA	p.Q1586Q	MPDZ_ENST00000381022.2_Silent_p.Q1586Q|MPDZ_ENST00000538841.1_Silent_p.Q445Q|MPDZ_ENST00000536827.1_Silent_p.Q1553Q|MPDZ_ENST00000381015.4_Silent_p.Q1586Q|MPDZ_ENST00000447879.1_Silent_p.Q1553Q|MPDZ_ENST00000546205.1_Silent_p.Q1600Q|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000541718.1_Silent_p.Q1586Q	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1586					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.Q1586Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCATCAGAGACTGGGAGCTGT	0.517000													7	81					0	0	0.003080	0	0
ZNF536	9745	broad.mit.edu	37	19	30935025	30935025	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:30935025G>T	ENST00000355537.3	+	2	703	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G186C(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGCAACCTGGGCAAGGGGCG	0.667000													4	21					0.00024832	0.000295075	0.009096	1	0
ITGB6	3694	broad.mit.edu	37	2	160958301	160958301	+	Silent	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:160958301A>G	ENST00000283249.2	-	15	2550	c.2313T>C	c.(2311-2313)aaT>aaC	p.N771N	ITGB6_ENST00000409872.1_Silent_p.N771N|ITGB6_ENST00000428609.2_Silent_p.N729N|ITGB6_ENST00000409967.2_Silent_p.N664N			P18564	ITB6_HUMAN	integrin, beta 6	771					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	p.N771N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TATAAGTTACATTTTTAAAAG	0.308000													16	80					0	0	0.008871	0	0
GPR183	1880	broad.mit.edu	37	13	99947695	99947695	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:99947695T>G	ENST00000376414.4	-	2	788	c.705A>C	c.(703-705)aaA>aaC	p.K235N	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	235					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.K235I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TTACACCAGATTTCTCAGTGA	0.353000													12	124					0	0	0.002450	0	0
RAD54B	25788	broad.mit.edu	37	8	95403926	95403926	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:95403926C>A	ENST00000336148.5	-	10	1844	c.1720G>T	c.(1720-1722)Ggg>Tgg	p.G574W		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.G574W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCCAACAACCCTTGAAGGCAG	0.398000								Direct reversal of damage;Homologous recombination					133	202					1.19401e-59	2.153e-59	0.003610	1	0
TENM2	57451	broad.mit.edu	37	5	167642143	167642143	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:167642143C>A	ENST00000519204.1	+	20	3699	c.3581C>A	c.(3580-3582)tCt>tAt	p.S1194Y	TENM2_ENST00000518659.1_Missense_Mutation_p.S1315Y|TENM2_ENST00000403607.2_Missense_Mutation_p.S1139Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S1314Y|TENM2_ENST00000520394.1_Missense_Mutation_p.S1076Y					teneurin transmembrane protein 2									p.S1148Y(1)|p.S1194Y(1)|p.S1315Y(1)									CGCGTCAAGTCTCTGAGTGGA	0.582000													10	58					7.48243e-07	1.03407e-06	0.006214	1	0
RYR2	6262	broad.mit.edu	37	1	237551440	237551440	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:237551440T>A	ENST00000366574.2	+	10	1047	c.730T>A	c.(730-732)Tgt>Agt	p.C244S	RYR2_ENST00000542537.1_Missense_Mutation_p.C228S|RYR2_ENST00000360064.6_Missense_Mutation_p.C242S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	244	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.C242S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATGGACGAGTGTCTCACTGT	0.473000													11	33					0	0	0.008291	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995914	140995914	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:140995914G>T	ENST00000285879.4	+	4	3010	c.2724G>T	c.(2722-2724)ctG>ctT	p.L908L	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	908	MAGE.						protein binding	p.D909N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTATACACTGGATGAAAAGG	0.463000										HNSCC(15;0.026)			33	341					9.65963e-10	1.46311e-09	0.003271	1	0
GSTA5	221357	broad.mit.edu	37	6	52701131	52701131	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:52701131C>G	ENST00000370989.1	-	4	333	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.E59Q			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	59	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.E59Q(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CCGTCAATCTCAACCATTGGT	0.423000													12	266					0	0	0.001368	0	0
HSPH1	10808	broad.mit.edu	37	13	31711466	31711466	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:31711466C>A	ENST00000320027.5	-	18	2910	c.2566G>T	c.(2566-2568)Gac>Tac	p.D856Y	HSPH1_ENST00000445273.2_Missense_Mutation_p.D858Y|HSPH1_ENST00000429785.2_Missense_Mutation_p.D675Y|HSPH1_ENST00000380406.5_Missense_Mutation_p.D815Y|HSPH1_ENST00000380405.4_Missense_Mutation_p.D812Y	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	856					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.D856Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TAGTCCAAGTCCATATTAACA	0.299000													22	128					3.5997e-14	5.79215e-14	0.002299	1	0
KCNA4	3739	broad.mit.edu	37	11	30032822	30032822	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:30032822G>T	ENST00000328224.6	-	2	2637	c.1404C>A	c.(1402-1404)ggC>ggA	p.G468G		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	468						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.G468G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGAGGGTGTGGCCCAGGATCT	0.537000													4	74					0.00909568	0.00991621	0.009096	1	0
TAF1C	9013	broad.mit.edu	37	16	84212613	84212613	+	Silent	SNP	G	G	T	rs138100695		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:84212613G>T	ENST00000567759.1	-	14	2726	c.2544C>A	c.(2542-2544)tcC>tcA	p.S848S	TAF1C_ENST00000378541.4_Silent_p.S848S|TAF1C_ENST00000566732.1_Silent_p.S822S|TAF1C_ENST00000570117.1_Silent_p.S516S|TAF1C_ENST00000541676.1_Silent_p.S755S|TAF1C_ENST00000341690.6_Silent_p.S754S	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	848					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	p.S848S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TGTGCTGCTGGGAGCGAGTGG	0.652000													11	71					1.49906e-05	1.93956e-05	0.002450	1	0
GPR183	1880	broad.mit.edu	37	13	99947696	99947696	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:99947696T>A	ENST00000376414.4	-	2	787	c.704A>T	c.(703-705)aAa>aTa	p.K235I	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	235					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.K235I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TACACCAGATTTCTCAGTGAG	0.353000													12	126					0	0	0.002450	0	0
CLCN1	1180	broad.mit.edu	37	7	143039237	143039237	+	Splice_Site	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:143039237T>C	ENST00000343257.2	+	15	1883		c.e15+2			NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.?(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCAGCTCAGGTCAGGGGCACT	0.512000													8	27					0	0	0.004482	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118220524	118220524	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:118220524C>A	ENST00000369230.3	+	6	758	c.612C>A	c.(610-612)gtC>gtA	p.V204V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	204					lipid catabolic process	extracellular region	triglyceride lipase activity	p.V204V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CAAAGGAAGTCAGGCTAGACC	0.438000													12	76					4.36969e-10	6.672e-10	0.001855	1	0
PDE3A	5139	broad.mit.edu	37	12	20803388	20803388	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:20803388G>A	ENST00000359062.3	+	14	2819	c.2779G>A	c.(2779-2781)Gat>Aat	p.D927N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	927	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D927N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTAAATGATGATGTTGGAAT	0.294000													145	80					0	0	0.003610	0	0
OR52B2	255725	broad.mit.edu	37	11	6191076	6191076	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:6191076C>A	ENST00000530810.1	-	1	562	c.481G>T	c.(481-483)Gtc>Ttc	p.V161F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V161F(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAATATGACTGGGAAGATG	0.507000													10	27					1.58986e-06	2.17601e-06	0.008291	1	0
PSMD13	5719	broad.mit.edu	37	11	249047	249047	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:249047G>T	ENST00000532097.1	+	9	1268	c.764G>T	c.(763-765)tGg>tTg	p.W255L	PSMD13_ENST00000352303.5_Missense_Mutation_p.W255L|PSMD13_ENST00000431206.2_Missense_Mutation_p.W257L	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	255	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	p.W257L(1)|p.W255L(1)		NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		AAGACTGCCTGGGGCCAGCAG	0.552000													11	31					4.3838e-07	6.10294e-07	0.001855	1	0
OR2A7	401427	broad.mit.edu	37	7	143955988	143955988	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:143955988C>A	ENST00000493325.1	-	1	827	c.734G>T	c.(733-735)tGt>tTt	p.C245F	RP4-798C17.6_ENST00000461843.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C245F(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TCCAATCACACAGAGGTGGGA	0.453000													15	340					7.93312e-07	1.09369e-06	0.002450	1	0
UQCRFS1	7386	broad.mit.edu	37	19	29698810	29698810	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:29698810G>C	ENST00000304863.4	-	2	892	c.470C>G	c.(469-471)tCc>tGc	p.S157C		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	157					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	p.S157C(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TGGAATATCGGATAACTTGAT	0.488000													5	92					0	0	0.001168	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378649	114378649	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:114378649C>T	ENST00000312719.5	-	5	2001	c.813G>A	c.(811-813)aaG>aaA	p.K271K	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.K271K|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	271					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.K271K(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GATTTAGGAACTTCTCCACGA	0.413000													11	72					0	0	0.001368	0	0
RYR3	6263	broad.mit.edu	37	15	33962753	33962753	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr15:33962753C>T	ENST00000389232.4	+	38	5926	c.5856C>T	c.(5854-5856)tgC>tgT	p.C1952C	RYR3_ENST00000415757.3_Silent_p.C1952C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1952	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.C1952C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGAGAGATGCCCCAGTAAGT	0.448000													11	57					0	0	0.008291	0	0
CCDC141	285025	broad.mit.edu	37	2	179736949	179736949	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:179736949T>C	ENST00000420890.2	-	13	2107	c.1990A>G	c.(1990-1992)Agc>Ggc	p.S664G	CCDC141_ENST00000295723.5_Missense_Mutation_p.S89G	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	89							protein binding	p.S89G(1)|p.S664G(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CGAAGGAGGCTAAGTTCTTCC	0.453000													8	85					0	0	0.004482	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	5					0	0	0.004672	0	0
FAM47C	442444	broad.mit.edu	37	X	37026687	37026687	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:37026687G>T	ENST00000358047.3	+	1	256	c.204G>T	c.(202-204)acG>acT	p.T68T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	68								p.T68T(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGAAGATACGCTTGTTTGTC	0.542000													8	47					3.09899e-07	4.33553e-07	0.004482	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386413	118386413	+	RNA	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:118386413G>C	ENST00000537242.1	+	0	395				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	p.D124N(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GCATCTGTGTGGACTGGAGGC	0.507000													3	18					0	0	0.004672	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149215939	149215939	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:149215939G>T	ENST00000309241.5	+	8	1953	c.1921G>T	c.(1921-1923)Ggc>Tgc	p.G641C	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.G577C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.G602C|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.G641C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	641					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.G641C(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTCCCCTGAGGGCCTCTCACT	0.592000													6	90					3.59834e-05	4.51182e-05	0.001168	1	0
NAV3	89795	broad.mit.edu	37	12	78452876	78452876	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:78452876G>T	ENST00000397909.2	+	12	2790	c.2617G>T	c.(2617-2619)Gtg>Ttg	p.V873L	NAV3_ENST00000536525.2_Missense_Mutation_p.V873L|NAV3_ENST00000266692.7_Missense_Mutation_p.V873L|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.V873L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	873						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.V873L(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGTTCACGATGTGACAGTGGA	0.398000										HNSCC(70;0.22)			8	73					1.06961e-07	1.51885e-07	0.003080	1	0
BRAF	673	broad.mit.edu	37	7	140494268	140494268	+	Splice_Site	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:140494268C>A	ENST00000288602.6	-	8	1041		c.e8-1			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B						activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.?(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AATTTGGGGCCTGGAAAAATG	0.363000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				4	84					1.23904e-05	1.61416e-05	0.000602	1	0
OR6K2	81448	broad.mit.edu	37	1	158670176	158670176	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:158670176C>T	ENST00000359610.2	-	1	310	c.267G>A	c.(265-267)agG>agA	p.R89R		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGGAAATGCTCCTCTCACTAA	0.458000													15	82					0	0	0.004007	0	0
C16orf62	57020	broad.mit.edu	37	16	19656206	19656206	+	Splice_Site	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:19656206A>T	ENST00000438132.3	+	23	2180		c.e23-1		C16orf62_ENST00000251143.5_Splice_Site|C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000543152.1_Splice_Site|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000448695.1_Splice_Site	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral to membrane		p.?(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TATTGATTTTAGTGCACTCAC	0.303000													5	86					0	0	0.001168	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826499	43826499	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:43826499C>G	ENST00000389420.3	-	20	2835	c.2836G>C	c.(2836-2838)Gac>Cac	p.D946H	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.D100H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D946H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	946	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding	p.D946H(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGTAGTGGTCATCAACTTGA	0.423000													10	80					0	0	0.006214	0	0
CFHR2	3080	broad.mit.edu	37	1	196928191	196928191	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:196928191C>A	ENST00000367415.4	+	5	908	c.794C>A	c.(793-795)cCc>cAc	p.P265H	CFHR2_ENST00000367421.3_Missense_Mutation_p.P265H	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	265	Sushi 4.					extracellular region		p.P265H(1)		large_intestine(2)|ovary(1)|skin(3)	6						CTGGTATATCCCAGTTGTGAA	0.303000													10	53					3.07112e-06	4.13364e-06	0.010729	1	0
DPYSL5	56896	broad.mit.edu	37	2	27121559	27121559	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:27121559C>G	ENST00000288699.6	+	2	350	c.192C>G	c.(190-192)gaC>gaG	p.D64E	DPYSL5_ENST00000401478.1_Missense_Mutation_p.D64E	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	64					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.D64E(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGCATCGACACCAGCACCC	0.572000													9	41					0	0	0.004482	0	0
PTGFRN	5738	broad.mit.edu	37	1	117504136	117504136	+	Silent	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:117504136A>G	ENST00000393203.2	+	5	1632	c.1485A>G	c.(1483-1485)acA>acG	p.T495T		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	495	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.T495T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AGGAACATACAGACACGTTCA	0.493000													16	55					0	0	0.003163	0	0
HAVCR1	26762	broad.mit.edu	37	5	156469677	156469677	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:156469677C>A	ENST00000339252.3	-	5	1330	c.798G>T	c.(796-798)gtG>gtT	p.V266V	HAVCR1_ENST00000523175.1_Silent_p.V266V|HAVCR1_ENST00000425854.1_Silent_p.V266V|HAVCR1_ENST00000522693.1_Silent_p.V266V|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000544197.1_Silent_p.V266V	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	261					interspecies interaction between organisms	integral to membrane	receptor activity	p.V266V(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGACTCTGTCACGGTGTCAT	0.348000													12	125					1.52009e-12	2.39172e-12	0.003163	1	0
BDP1	55814	broad.mit.edu	37	5	70806102	70806102	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:70806102G>T	ENST00000358731.4	+	17	3446	c.3183G>T	c.(3181-3183)gaG>gaT	p.E1061D	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1061	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.E1061D(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTGAAATGGAGACGGATTTGA	0.433000													7	73					0.00198382	0.0022313	0.001984	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411915	105411915	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:105411915C>A	ENST00000333244.5	-	7	9992	c.9873G>T	c.(9871-9873)gaG>gaT	p.E3291D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3291						nucleus		p.E3291D(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAGGTCCCCCTCCAGCCGTG	0.612000													8	208					3.09899e-07	4.33553e-07	0.004482	1	0
INTU	27152	broad.mit.edu	37	4	128564978	128564978	+	Missense_Mutation	SNP	C	C	T	rs147508682		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:128564978C>T	ENST00000335251.5	+	2	552	c.449C>T	c.(448-450)aCa>aTa	p.T150I	INTU_ENST00000296461.5_Missense_Mutation_p.T150I	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	150								p.T150I(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AATCAGAAGACAGGAGTCATT	0.378000													16	101					0	0	0.004990	0	0
DIXDC1	85458	broad.mit.edu	37	11	111864309	111864309	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:111864309C>A	ENST00000440460.2	+	14	1656	c.1359C>A	c.(1357-1359)caC>caA	p.H453Q	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.H242Q	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	454					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	p.H453Q(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TCAGTTACCACCAGGTCAGAA	0.473000													20	73					1.00905e-13	1.61448e-13	0.008871	1	0
ACAN	176	broad.mit.edu	37	15	89382144	89382144	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr15:89382144C>T	ENST00000439576.2	+	3	695	c.321C>T	c.(319-321)ccC>ccT	p.P107P	ACAN_ENST00000559004.1_Silent_p.P107P|ACAN_ENST00000352105.7_Silent_p.P107P|ACAN_ENST00000561243.1_Silent_p.P107P|ACAN_ENST00000558207.1_Silent_p.P107P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	107					cell adhesion		hyaluronic acid binding|sugar binding	p.P107P(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTCACTGCCCAACTACCCGG	0.617000													7	94					0	0	0.003080	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189238	11189238	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:11189238T>A	ENST00000382435.4	+	1	842	c.623T>A	c.(622-624)cTg>cAg	p.L208Q		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	208						integral to membrane		p.L208Q(1)									CTGGGGCTTCTGGTCTATCGT	0.617000													11	83					0	0	0.008291	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47592674	47592674	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:47592674T>A	ENST00000371917.4	+	14	1896	c.1896T>A	c.(1894-1896)gaT>gaA	p.D632E		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	632					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	p.D632E(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTGTTCAGGATGACCCTGAGC	0.512000													5	31					0	0	0.000602	0	0
HSPA2	3306	broad.mit.edu	37	14	65008300	65008300	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:65008300G>A	ENST00000247207.6	+	1	1115	c.733G>A	c.(733-735)Gcg>Acg	p.A245T	HSPA2_ENST00000394709.1_Missense_Mutation_p.A245T	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	245					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	p.A245T(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GAGCCACCTGGCGGAGGAGTT	0.652000													4	61					0	0	0.000602	0	0
LY75	4065	broad.mit.edu	37	2	160755507	160755507	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:160755507C>A	ENST00000263636.4	-	2	185	c.158G>T	c.(157-159)tGg>tTg	p.W53L	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.W53L|LY75_ENST00000554112.1_Missense_Mutation_p.W53L|LY75_ENST00000553424.1_Missense_Mutation_p.W53L|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.W53L	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.W53L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCTACTATCCAGCCATACAC	0.488000													32	109					8.16721e-17	1.34854e-16	0.010818	1	0
SAR1A	56681	broad.mit.edu	37	10	71913618	71913618	+	Silent	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:71913618C>G	ENST00000373238.1	-	6	813	c.456G>C	c.(454-456)ggG>ggC	p.G152G	SAR1A_ENST00000431664.2_Silent_p.G152G|SAR1A_ENST00000458634.2_Silent_p.G109G|SAR1A_ENST00000373242.1_Silent_p.G152G|SAR1A_ENST00000373241.4_Silent_p.G152G			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	152					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	p.G152G(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GTCCATAAAGCCCAAATATCT	0.343000													16	352					0	0	0.004990	0	0
ABCG8	64241	broad.mit.edu	37	2	44079912	44079912	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:44079912C>A	ENST00000272286.2	+	6	959	c.869C>A	c.(868-870)aCc>aAc	p.T290N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	290	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.T290N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGTCTGGCACCCCCATCTAC	0.582000													7	57					2.0095e-06	2.71761e-06	0.001984	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995915	140995915	+	Translation_Start_Site	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:140995915G>A	ENST00000406005.2	+	0	299				MAGEC1_ENST00000285879.4_Missense_Mutation_p.D909N			O60732	MAGC1_HUMAN	melanoma antigen family C, 1								protein binding	p.D909N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTATACACTGGATGAAAAGGT	0.463000										HNSCC(15;0.026)			34	339					0	0	0.003755	0	0
SUSD1	64420	broad.mit.edu	37	9	114904686	114904686	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:114904686C>G	ENST00000374270.3	-	5	792	c.620G>C	c.(619-621)aGa>aCa	p.R207T	SUSD1_ENST00000374263.3_Missense_Mutation_p.R207T|SUSD1_ENST00000374264.2_Missense_Mutation_p.R207T|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	207	Sushi 1.					integral to membrane	calcium ion binding	p.R207T(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAATCCTTCTCTGCAAGCATA	0.453000													15	204					0	0	0.002450	0	0
SLC15A1	6564	broad.mit.edu	37	13	99356687	99356687	+	Silent	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:99356687T>C	ENST00000376503.5	-	17	1327	c.1272A>G	c.(1270-1272)acA>acG	p.T424T		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	424					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	p.T424T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TAAATGCATTTGTCTATAGAG	0.423000													14	129					0	0	0.002450	0	0
PTPRD	5789	broad.mit.edu	37	9	8340448	8340448	+	Silent	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:8340448A>T	ENST00000381196.4	-	39	5691	c.5148T>A	c.(5146-5148)gcT>gcA	p.A1716A	PTPRD_ENST00000540109.1_Silent_p.A1716A|PTPRD_ENST00000486161.1_Silent_p.A1309A|PTPRD_ENST00000356435.5_Silent_p.A1716A|PTPRD_ENST00000355233.5_Silent_p.A1310A|PTPRD_ENST00000397617.3_Silent_p.A1309A|PTPRD_ENST00000397606.3_Silent_p.A1309A|PTPRD_ENST00000397611.3_Silent_p.A1306A|PTPRD_ENST00000537002.1_Silent_p.A1306A|PTPRD_ENST00000360074.4_Silent_p.A1703A|PTPRD_ENST00000358503.5_Silent_p.A1694A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1716	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A1716A(2)|p.A1310A(1)|p.A1187A(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCCCTGGGTAGCGATGTAGG	0.448000										TSP Lung(15;0.13)			4	72					0	0	0.009096	0	0
TDRD9	122402	broad.mit.edu	37	14	104462107	104462107	+	Silent	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:104462107T>A	ENST00000409874.4	+	12	1389	c.1341T>A	c.(1339-1341)atT>atA	p.I447I	TDRD9_ENST00000339063.5_Silent_p.I447I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	447	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.I447I(1)|p.I162I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CCACCAATATTGCAGAGAGTT	0.353000													5	27					0	0	0.001168	0	0
TULP4	56995	broad.mit.edu	37	6	158882747	158882747	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:158882747G>T	ENST00000367097.3	+	6	2369	c.1012G>T	c.(1012-1014)Gac>Tac	p.D338Y	TULP4_ENST00000367094.2_Missense_Mutation_p.D338Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	338					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.D338Y(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTTCACACTGGACACTCTCGT	0.428000													20	56					1.9806e-07	2.79151e-07	0.002299	1	0
LOC645166	645166	broad.mit.edu	37	1	148932835	148932835	+	RNA	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:148932835C>A	ENST00000539543.1	+	0	91					NR_027355.1																						ATAGAGCTGCCCAGCATGGCT	0.602000													13	170					1.52009e-12	2.39172e-12	0.003163	1	0
LOC150776	150776	broad.mit.edu	37	2	132277131	132277131	+	RNA	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:132277131G>T	ENST00000438378.2	+	0	2200					NR_026922.1																						AGCTTAGGCAGTTCACACTCG	0.587000													8	33					1.12685e-05	1.47818e-05	0.004482	1	0
ITSN1	6453	broad.mit.edu	37	21	35229038	35229038	+	Splice_Site	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr21:35229038A>T	ENST00000381318.3	+	30	3949		c.e30-1		ITSN1_ENST00000399367.3_Splice_Site|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Splice_Site|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000381285.4_Splice_Site	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.?(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGTGTTTTCCAGGGTGTTCAG	0.502000													18	62					0	0	0.006122	0	0
OXCT1	5019	broad.mit.edu	37	5	41870398	41870398	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:41870398C>T	ENST00000196371.5	-	1	223	c.63G>A	c.(61-63)ggG>ggA	p.G21G	OXCT1-AS1_ENST00000508458.1_RNA	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	21					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	p.G21G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	ACCAGGTTGCCCCAGATCCGC	0.642000													3	23					0	0	0.000602	0	0
SYT6	148281	broad.mit.edu	37	1	114682455	114682455	+	Silent	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:114682455A>G	ENST00000393296.1	-	2	371	c.294T>C	c.(292-294)tcT>tcC	p.S98S	SYT6_ENST00000369547.1_Silent_p.S13S			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	98					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.S13S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGATTAGCAGAAGAGGGAC	0.597000													10	189					0	0	0.001368	0	0
OR2M4	26245	broad.mit.edu	37	1	248402653	248402653	+	Silent	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:248402653T>C	ENST00000306687.1	+	1	423	c.423T>C	c.(421-423)tgT>tgC	p.C141C		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGAAACTCTGTGTCTTCATGA	0.468000													18	134					0	0	0.006122	0	0
SLC25A32	81034	broad.mit.edu	37	8	104415420	104415420	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:104415420T>G	ENST00000297578.4	-	4	690	c.524A>C	c.(523-525)aAg>aCg	p.K175T	SLC25A32_ENST00000543107.1_Missense_Mutation_p.K43T	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	175					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	p.K175T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	ACCTTCATACTTATATATTTT	0.323000													21	36					0	0	0.010504	0	0
SPTA1	6708	broad.mit.edu	37	1	158632506	158632506	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:158632506G>C	ENST00000368148.3	-	17	2630	c.2450C>G	c.(2449-2451)aCt>aGt	p.T817S	SPTA1_ENST00000368147.3_Missense_Mutation_p.T817S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	817					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.T817S(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTAGGTGGAAGTAGCTGAGGG	0.498000													4	69					0	0	0.009096	0	0
DISC1	27185	broad.mit.edu	37	1	232172460	232172460	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:232172460G>A	ENST00000439617.2	+	13	2501	c.2448G>A	c.(2446-2448)caG>caA	p.Q816Q	DISC1_ENST00000366637.3_Silent_p.Q126Q	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	816	Interaction with ATF4 and ATF5.|Interaction with NDEL1.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	p.Q848H(1)|p.Q848Q(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGGAGCTCCAGATGGTGAAGG	0.582000													3	18					0	0	0.004672	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242447	87242447	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:87242447A>T	ENST00000297524.3	-	1	163	c.60T>A	c.(58-60)agT>agA	p.S20R	SLC7A13_ENST00000419776.2_Missense_Mutation_p.S20R|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	20						integral to membrane	amino acid transmembrane transporter activity	p.S20R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TAAGCAAAAAACTTGTGCCCC	0.388000													9	131					0	0	0.008291	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453826	84453826	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:84453826G>A	ENST00000377084.2	-	1	2702	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	606						integral to membrane		p.S606F(1)|p.S606>?(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTAGGAGTTGGAGTGCGTCCC	0.587000													3	12					0	0	0.004672	0	0
C2orf66	401027	broad.mit.edu	37	2	197674047	197674047	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:197674047G>T	ENST00000342506.2	-	1	953	c.65C>A	c.(64-66)cCt>cAt	p.P22H		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	22						extracellular region		p.P22H(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						TAGCAGGAGAGGTGCTCTGGT	0.507000													15	187					2.62699e-14	4.239e-14	0.003163	1	0
CCDC63	160762	broad.mit.edu	37	12	111296569	111296569	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:111296569T>G	ENST00000308208.5	+	4	601	c.359T>G	c.(358-360)cTg>cGg	p.L120R	CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Missense_Mutation_p.L80R|CCDC63_ENST00000552694.1_Missense_Mutation_p.L41R	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	120								p.L120R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TTGGCTGAACTGGATGAGAAG	0.483000													8	65					0	0	0.004482	0	0
TBC1D16	125058	broad.mit.edu	37	17	77926534	77926534	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:77926534C>A	ENST00000310924.2	-	4	978	c.863G>T	c.(862-864)cGg>cTg	p.R288L		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	288						intracellular	Rab GTPase activator activity	p.R288L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGCGCACACCCGCTGCGGCTC	0.682000													6	37					8.12818e-05	9.84394e-05	0.001984	1	0
POLM	27434	broad.mit.edu	37	7	44113476	44113476	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:44113476C>A	ENST00000242248.5	-	9	1321	c.1220G>T	c.(1219-1221)aGg>aTg	p.R407M	POLM_ENST00000395831.3_Missense_Mutation_p.R327M|POLM_ENST00000335195.6_Missense_Mutation_p.R370M	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	407					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.R407M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TGGGCAGGGCCTCGTGGATCC	0.612000								DNA polymerases (catalytic subunits)					19	78					0.00152264	0.00172283	0.010504	1	0
PLAT	5327	broad.mit.edu	37	8	42046462	42046462	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:42046462C>A	ENST00000220809.4	-	4	499	c.243G>T	c.(241-243)gtG>gtT	p.V81V	PLAT_ENST00000519510.1_Silent_p.V81V|PLAT_ENST00000524009.1_Silent_p.V81V|PLAT_ENST00000429089.2_Silent_p.V81V|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Silent_p.V81V|PLAT_ENST00000429710.2_Silent_p.V81V	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	81	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.V81V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTTGACAGGCACTGAGTGGC	0.572000													115	232					3.79751e-50	6.82591e-50	0.003610	1	0
LAMP5	24141	broad.mit.edu	37	20	9496977	9496977	+	Silent	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:9496977G>C	ENST00000246070.2	+	4	936	c.444G>C	c.(442-444)tcG>tcC	p.S148S	LAMP5_ENST00000427562.2_Silent_p.S104S	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	148						integral to membrane		p.S148S(1)									ACGACTCCTCGGAGAAAACCC	0.572000													6	71					0	0	0.001984	0	0
UGGT2	55757	broad.mit.edu	37	13	96519616	96519616	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:96519616T>G	ENST00000376747.3	-	30	3605	c.3535A>C	c.(3535-3537)Aaa>Caa	p.K1179Q		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1179					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.K1179Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATCTTGCTTTTGAAGCTGTTT	0.289000													9	147					0	0	0.001368	0	0
TTC3	7267	broad.mit.edu	37	21	38537963	38537963	+	Silent	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr21:38537963A>T	ENST00000399017.2	+	33	6194	c.3447A>T	c.(3445-3447)gcA>gcT	p.A1149A	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.A1149A|TTC3_ENST00000354749.2_Silent_p.A1149A	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1149					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.A1149A(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAGAAAAAGCAGGAGGTTTAA	0.408000													54	305					0	0	0.003610	0	0
DOCK2	1794	broad.mit.edu	37	5	169446071	169446071	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:169446071A>C	ENST00000256935.8	+	33	3420	c.3340A>C	c.(3340-3342)Atg>Ctg	p.M1114L	DOCK2_ENST00000540750.1_Missense_Mutation_p.M175L|DOCK2_ENST00000520908.1_Missense_Mutation_p.M606L|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1114	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.M1114L(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCTTCGACATGATGCTGTG	0.463000													47	214					0	0	0.003610	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593508	135593508	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:135593508C>T	ENST00000535601.1	+	10	2026	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	HTATSF1_ENST00000218364.4_Missense_Mutation_p.P535L	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	535	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.P535L(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAGGTTGGCCCCACAAAAGAG	0.418000													22	50					0	0	0.010504	0	0
RRP1	8568	broad.mit.edu	37	21	45220427	45220427	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr21:45220427G>T	ENST00000497547.1	+	10	1038	c.921G>T	c.(919-921)ctG>ctT	p.L307L	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	307					rRNA processing	nucleolus|preribosome, small subunit precursor		p.L307L(1)		central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CTAACAGACTGTTTGAAATGG	0.557000													7	44					2.0095e-06	2.71761e-06	0.001984	1	0
MYH8	4626	broad.mit.edu	37	17	10323440	10323440	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:10323440A>C	ENST00000403437.2	-	3	199	c.105T>G	c.(103-105)gaT>gaG	p.D35E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	35	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.D35E(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATGTTTTAGCATCAAACGGCT	0.483000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				61	200					0	0	0.003610	0	0
OR14J1	442191	broad.mit.edu	37	6	29274833	29274833	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:29274833G>T	ENST00000377160.2	+	1	431	c.367G>T	c.(367-369)Gca>Tca	p.A123S		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A123S(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CAGGTACGCAGCAATCTGTCA	0.478000													46	116					7.88023e-25	1.39005e-24	0.003610	1	0
MAGEA10	4109	broad.mit.edu	37	X	151303295	151303295	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:151303295C>A	ENST00000370323.4	-	4	1114	c.798G>T	c.(796-798)gaG>gaT	p.E266D	MAGEA10_ENST00000244096.3_Missense_Mutation_p.E266D|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	266	MAGE.							p.E266D(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCTGGGCTCCCCATAAA	0.547000													12	114					0.00010058	0.000121037	0.001368	1	0
OR4C15	81309	broad.mit.edu	37	11	55322383	55322383	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:55322383G>A	ENST00000314644.2	+	1	601	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A201T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GATGGGGGTAGCCTGGACAGG	0.473000										HNSCC(20;0.049)			23	79					0	0	0.002780	0	0
TSC1	7248	broad.mit.edu	37	9	135781381	135781381	+	Silent	SNP	G	G	A	rs149439187		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:135781381G>A	ENST00000298552.3	-	15	1805	c.1584C>T	c.(1582-1584)ggC>ggT	p.G528G	TSC1_ENST00000545250.1_Silent_p.G477G|TSC1_ENST00000440111.2_Silent_p.G528G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	528					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.A529S(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCACGCTGGCGCCCTGAGAAC	0.592000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				5	29					0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152276020	152276020	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:152276020G>T	ENST00000368799.1	-	3	11377	c.11342C>A	c.(11341-11343)tCt>tAt	p.S3781Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3781	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S3781Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGTCCAGACCTATCTAC	0.577000									Ichthyosis				137	412					5.26942e-46	9.44175e-46	0.003610	1	0
DMD	1756	broad.mit.edu	37	X	32380907	32380907	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:32380907T>A	ENST00000357033.4	-	37	5529	c.5323A>T	c.(5323-5325)Aag>Tag	p.K1775*	DMD_ENST00000378677.2_Nonsense_Mutation_p.K1771*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1775	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.K1775*(1)|p.K1771*(1)|p.K1770*(1)|p.K434*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCCTACCTTTCCAGTCTTA	0.488000													12	80					0	0	0.010729	0	0
NLRC5	84166	broad.mit.edu	37	16	57054740	57054740	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:57054740C>T	ENST00000436936.1	+	3	341	c.116C>T	c.(115-117)aCg>aTg	p.T39M	NLRC5_ENST00000539144.1_Missense_Mutation_p.T39M|NLRC5_ENST00000262510.6_Missense_Mutation_p.T39M|NLRC5_ENST00000308149.7_Missense_Mutation_p.T39M			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	39					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.T39M(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCCCAACACGGACCTGGAT	0.547000													4	57					0	0	0.009096	0	0
MPDZ	8777	broad.mit.edu	37	9	13119528	13119528	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:13119528G>A	ENST00000319217.7	-	39	5599	c.5352C>T	c.(5350-5352)acC>acT	p.T1784T	MPDZ_ENST00000381022.2_Silent_p.T1784T|MPDZ_ENST00000538841.1_Silent_p.T643T|MPDZ_ENST00000536827.1_Silent_p.T1751T|MPDZ_ENST00000381015.4_Silent_p.T1784T|MPDZ_ENST00000447879.1_Silent_p.T1751T|MPDZ_ENST00000546205.1_Silent_p.T1798T|MPDZ_ENST00000541093.1_Silent_p.T18T|MPDZ_ENST00000541718.1_Silent_p.T1784T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1784	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.T1784T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCGCTTCTTGGGTGGCATTAC	0.398000													11	127					0	0	0.010729	0	0
PCDH8	5100	broad.mit.edu	37	13	53422253	53422253	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:53422253C>G	ENST00000377942.3	-	1	522	c.319G>C	c.(319-321)Gat>Cat	p.D107H	PCDH8_ENST00000338862.4_Missense_Mutation_p.D107H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	107	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.D107H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTGACCACATCGAAGGCCAGC	0.711000													4	36					0	0	0.009096	0	0
RBFOX1	54715	broad.mit.edu	37	16	7726787	7726787	+	Silent	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:7726787T>C	ENST00000340209.4	+	11	1254	c.957T>C	c.(955-957)gcT>gcC	p.A319A	RBFOX1_ENST00000550418.1_Silent_p.A314A|RBFOX1_ENST00000553186.1_Silent_p.A287A|RBFOX1_ENST00000535565.2_Silent_p.A271A|RBFOX1_ENST00000422070.4_Silent_p.A357A|RBFOX1_ENST00000552089.1_Silent_p.A331A|RBFOX1_ENST00000311745.5_Silent_p.A335A|RBFOX1_ENST00000547372.1_Silent_p.A357A|RBFOX1_ENST00000547338.1_Silent_p.A314A|RBFOX1_ENST00000436368.2_Silent_p.A335A|RBFOX1_ENST00000355637.4_Silent_p.A335A			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	314					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.A335A(2)|p.A314A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTGGTTATGCTGCATACCGCT	0.517000													4	75					0	0	0.000602	0	0
SCN10A	6336	broad.mit.edu	37	3	38739040	38739040	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:38739040C>T	ENST00000449082.2	-	27	5670	c.5671G>A	c.(5671-5673)Gat>Aat	p.D1891N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1891					sensory perception	voltage-gated sodium channel complex		p.D1891N(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAACCTTCATCTGGGAGTGAT	0.498000													12	67					0	0	0.010729	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85531700	85531700	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:85531700G>A	ENST00000393217.2	+	19	4343	c.4282G>A	c.(4282-4284)Gat>Aat	p.D1428N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1428								p.D1428N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAAGAATCCGATGAAGAATA	0.299000													7	98					0	0	0.001984	0	0
NLRP3	114548	broad.mit.edu	37	1	247588044	247588044	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:247588044C>A	ENST00000366497.2	+	4	2079	c.1299C>A	c.(1297-1299)gcC>gcA	p.A433A	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.A433A|NLRP3_ENST00000391828.3_Silent_p.A433A|NLRP3_ENST00000391827.2_Silent_p.A433A|NLRP3_ENST00000366496.2_Silent_p.A433A|NLRP3_ENST00000336119.3_Silent_p.A433A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	433	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.A433A(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGAGCCTTGCCCAGACATCCA	0.602000													15	34					2.32078e-09	3.47812e-09	0.003163	1	0
ZNF585B	92285	broad.mit.edu	37	19	37678134	37678134	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:37678134C>G	ENST00000532828.2	-	5	556	c.305G>C	c.(304-306)tGg>tCg	p.W102S	ZNF585B_ENST00000527838.1_Missense_Mutation_p.W102S|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.W47S	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.W102T(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTATGGTCCCATAATTTCTC	0.333000													13	72					0	0	0.001368	0	0
MCUR1	63933	broad.mit.edu	37	6	13802537	13802537	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:13802537C>T	ENST00000379170.4	-	3	715	c.577G>A	c.(577-579)Gtc>Atc	p.V193I		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1									p.V193I(1)									AGGATCTTGACCAATGCAGAC	0.438000													14	106					0	0	0.003163	0	0
CRTAP	10491	broad.mit.edu	37	3	33174052	33174052	+	Missense_Mutation	SNP	G	G	C	rs111525897		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:33174052G>C	ENST00000320954.6	+	5	1027	c.928G>C	c.(928-930)Gac>Cac	p.D310H	CRTAP_ENST00000485310.1_3'UTR|CRTAP_ENST00000449224.1_Missense_Mutation_p.D267H	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	310						proteinaceous extracellular matrix	binding	p.D310H(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CCTAGTGAACGACCTGAAGAA	0.453000													13	134					0	0	0.001855	0	0
SMTN	6525	broad.mit.edu	37	22	31487707	31487707	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr22:31487707T>A	ENST00000333137.7	+	11	1724	c.1506T>A	c.(1504-1506)agT>agA	p.S502R	SMTN_ENST00000358743.1_Missense_Mutation_p.S502R|SMTN_ENST00000347557.2_Missense_Mutation_p.S502R	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	502					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	p.S502R(2)|p.S494R(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TCAGCACCAGTAGTGGGGGCA	0.647000													3	21					0	0	0.009096	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29437775	29437775	+	Silent	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr18:29437775G>C	ENST00000283351.4	-	20	3251	c.2916C>G	c.(2914-2916)ccC>ccG	p.P972P	TRAPPC8_ENST00000582539.1_Silent_p.P918P	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	972					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.P972P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAGAAGCTGAGGGACTTAGTG	0.423000													58	171					0	0	0.003610	0	0
COL4A5	1287	broad.mit.edu	37	X	107898561	107898561	+	Splice_Site	SNP	G	G	T	rs104886223		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:107898561G>T	ENST00000328300.6	+	37	3491	c.3246_splice	c.e37-1	p.G1083_splice	COL4A5_ENST00000361603.2_Splice_Site_p.G1083_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1083	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.G1083C(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						GTGTTTTCAGGGTGAGCCTGG	0.433000									Alport syndrome with Diffuse Leiomyomatosis				18	54					4.96729e-08	7.1248e-08	0.008871	1	0
XRN1	54464	broad.mit.edu	37	3	142123810	142123810	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:142123810C>T	ENST00000264951.4	-	16	1939	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	XRN1_ENST00000392981.2_Missense_Mutation_p.E608K	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	608					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	p.E608K(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGATAAACTCTGTGTCTCTA	0.413000													7	85					0	0	0.003080	0	0
PREPL	9581	broad.mit.edu	37	2	44566424	44566424	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:44566424C>A	ENST00000541738.1	-	6	950	c.564G>T	c.(562-564)gtG>gtT	p.V188V	PREPL_ENST00000260648.6_Silent_p.V277V|PREPL_ENST00000378511.3_Silent_p.V277V|PREPL_ENST00000410081.1_Silent_p.V277V|PREPL_ENST00000409936.1_Silent_p.V277V|PREPL_ENST00000378520.3_Silent_p.V277V|PREPL_ENST00000409411.1_Silent_p.V188V|PREPL_ENST00000409272.1_Silent_p.V277V|PREPL_ENST00000409957.1_Silent_p.V188V	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	277					proteolysis	cytosol	serine-type endopeptidase activity	p.V277V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTATCAACCACACTTCAGAAG	0.403000													8	72					0.000157383	0.000187802	0.003080	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118360618	118360618	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:118360618C>T	ENST00000528052.1	+	10	1039	c.968C>T	c.(967-969)cCa>cTa	p.P323L	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.P323L|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.P323L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	323					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.P323L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CAAGGATGCCCACAGATGGGT	0.448000													5	118					0	0	0.001984	0	0
COL11A1	1301	broad.mit.edu	37	1	103428231	103428231	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:103428231G>T	ENST00000358392.2	-	39	3355	c.3038C>A	c.(3037-3039)gCt>gAt	p.A1013D	COL11A1_ENST00000370096.3_Missense_Mutation_p.A1001D|COL11A1_ENST00000353414.4_Missense_Mutation_p.A962D|COL11A1_ENST00000512756.1_Missense_Mutation_p.A885D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1001	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.A1013D(1)|p.A1001D(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTCCTGCAGCACCAGGAAG	0.473000													19	87					6.33239e-15	1.02473e-14	0.010504	1	0
DPCR1	135656	broad.mit.edu	37	6	30920784	30920784	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:30920784C>G	ENST00000462446.1	+	3	4100	c.4072C>G	c.(4072-4074)Cag>Gag	p.Q1358E	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.Q200E			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	482						integral to membrane		p.Q1358E(1)|p.Q200E(1)|p.Q482E(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CACACTAACCCAGAACACCCA	0.522000													8	38					0	0	0.003080	0	0
OBSCN	84033	broad.mit.edu	37	1	228471364	228471364	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:228471364G>T	ENST00000570156.2	+	38	10259	c.10185G>T	c.(10183-10185)gaG>gaT	p.E3395D	OBSCN_ENST00000359599.6_Missense_Mutation_p.E1813D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E85D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E85D|OBSCN_ENST00000422127.1_Missense_Mutation_p.E2966D|OBSCN_ENST00000284548.11_Missense_Mutation_p.E2966D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2430	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.E3020D(1)|p.E3150D(1)|p.E3249D(1)|p.E2966D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGCCAGGAGGGCCTGACCC	0.667000													20	39					8.00594e-06	1.06247e-05	0.007413	1	0
OR10G4	390264	broad.mit.edu	37	11	123886904	123886904	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:123886904G>C	ENST00000320891.4	+	1	623	c.623G>C	c.(622-624)gGc>gCc	p.G208A		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G208A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGGCCTCAGGCTGCTTTGTC	0.562000													16	88					0	0	0.010818	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618756	77618756	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:77618756G>T	ENST00000521891.2	+	2	2881	c.2433G>T	c.(2431-2433)ttG>ttT	p.L811F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L811F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L811F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L811F|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	811						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L811F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCTGCACTTGGGCCTCGCCC	0.517000										HNSCC(33;0.089)			10	13					2.17888e-05	2.80635e-05	0.006214	1	0
MARK1	4139	broad.mit.edu	37	1	220752872	220752872	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:220752872G>T	ENST00000366918.4	+	2	825	c.228G>T	c.(226-228)ttG>ttT	p.L76F	MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000366917.4_Missense_Mutation_p.L76F			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	76	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L76F(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAGTCAAATTGGCAAGACACG	0.408000													12	68					1.49906e-05	1.93956e-05	0.002450	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20874923	20874923	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:20874923G>T	ENST00000381552.1	+	8	1329	c.961G>T	c.(961-963)Gat>Tat	p.D321Y	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D272Y|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D321Y|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D203Y|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D321Y			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	321					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TATTATAGATGATCACACAGA	0.358000													6	105					3.59834e-05	4.51182e-05	0.001168	1	0
AFF2	2334	broad.mit.edu	37	X	147743813	147743813	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:147743813T>G	ENST00000370460.2	+	3	1044	c.565T>G	c.(565-567)Tct>Gct	p.S189A	AFF2_ENST00000370458.1_Missense_Mutation_p.S185A|AFF2_ENST00000370457.5_Missense_Mutation_p.S185A|AFF2_ENST00000342251.3_Missense_Mutation_p.S185A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	189					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.S189A(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGACCAGTCTCAAGCCAA	0.493000													14	223					0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13923425	13923425	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:13923425G>A	ENST00000265104.4	-	4	506	c.402C>T	c.(400-402)gaC>gaT	p.D134D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	134	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D134D(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTGGAAGGGTCAGTCCTGA	0.433000									Kartagener syndrome				59	331					0	0	0.003610	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223471	118223471	+	Silent	SNP	A	A	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:118223471A>C	ENST00000402510.2	-	11	1721	c.1722T>G	c.(1720-1722)ccT>ccG	p.P574P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	574								p.P398P(1)|p.P574P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCTTATTGGTAGGTGAAGACC	0.488000													42	90					0	0	0.008740	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985169	140985169	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:140985169G>C	ENST00000298296.1	+	7	1625	c.1625G>C	c.(1624-1626)gGc>gCc	p.G542A	MAGEC3_ENST00000544766.1_Missense_Mutation_p.G244A|MAGEC3_ENST00000536088.1_Missense_Mutation_p.G244A|MAGEC3_ENST00000409007.1_Missense_Mutation_p.G244A|MAGEC3_ENST00000443323.2_Missense_Mutation_p.G164A	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	542	MAGE 2.							p.G244A(1)|p.G542A(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GATGACCAGGGCATGCCCAAG	0.478000													15	167					0	0	0.004007	0	0
CEP128	145508	broad.mit.edu	37	14	81244254	81244254	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:81244254T>A	ENST00000555265.1	-	16	2723	c.2348A>T	c.(2347-2349)cAa>cTa	p.Q783L	CEP128_ENST00000281129.3_Missense_Mutation_p.Q783L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	783						centriole|spindle pole		p.Q783L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTTCAAACATTGATATTTTAG	0.303000													5	86					0	0	0.000602	0	0
BAIAP3	8938	broad.mit.edu	37	16	1391159	1391159	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:1391159C>T	ENST00000324385.5	+	7	761	c.603C>T	c.(601-603)gtC>gtT	p.V201V	BAIAP3_ENST00000426824.3_Silent_p.V166V|BAIAP3_ENST00000562208.1_Silent_p.V143V|BAIAP3_ENST00000568887.1_Silent_p.V138V|BAIAP3_ENST00000421665.2_Silent_p.V166V|BAIAP3_ENST00000397488.2_Silent_p.V183V|BAIAP3_ENST00000397489.1_Silent_p.V183V	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	201	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.V201V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AAGTCTCTGTCATGCGTGCCA	0.672000													3	46					0	0	0.004672	0	0
DGKB	1607	broad.mit.edu	37	7	14378261	14378261	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:14378261A>C	ENST00000403951.2	-	23	2423	c.2004T>G	c.(2002-2004)caT>caG	p.H668Q	DGKB_ENST00000444700.2_Missense_Mutation_p.H649Q|DGKB_ENST00000407950.1_Missense_Mutation_p.H660Q|DGKB_ENST00000258767.5_Missense_Mutation_p.H668Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.H667Q|DGKB_ENST00000399322.3_Missense_Mutation_p.H668Q|DGKB_ENST00000406247.3_Missense_Mutation_p.H668Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	668					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.H668Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGGATCCTCCATGCATGCTTG	0.403000													13	99					0	0	0.001368	0	0
OR5T3	390154	broad.mit.edu	37	11	56020011	56020011	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:56020011G>T	ENST00000303059.3	+	1	336	c.336G>T	c.(334-336)ttG>ttT	p.L112F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112F(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CAAAAATGTTGGTCAATTTCC	0.358000													41	154					1.57019e-19	2.69447e-19	0.007835	1	0
ADAM7	8756	broad.mit.edu	37	8	24326279	24326279	+	Splice_Site	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:24326279G>T	ENST00000175238.6	+	7	662		c.e7-1		RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.?(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TAACTTTACAGGGCATCCATG	0.308000													9	33					0.000442599	0.000517277	0.006214	1	0
DIS3L	115752	broad.mit.edu	37	15	66610849	66610849	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr15:66610849G>C	ENST00000319194.5	+	8	1069	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q	DIS3L_ENST00000441424.2_Intron|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.E353Q	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	353					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	p.E353Q(1)|p.E270Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCGTCCAAAGAAGAGGTCCA	0.433000													10	87					0	0	0.008291	0	0
GH1	2688	broad.mit.edu	37	17	61994708	61994708	+	Missense_Mutation	SNP	G	G	C	rs148474991		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:61994708G>C	ENST00000323322.5	-	5	657	c.615C>G	c.(613-615)atC>atG	p.I205M	GH1_ENST00000458650.2_Missense_Mutation_p.I190M|GH1_ENST00000351388.4_Missense_Mutation_p.I165M|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.I110M	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	205			I -> M (in short stature; idiopathic autosomal).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.I205M(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGCACTGCACGATGCGCAGGA	0.592000													19	49					0	0	0.008871	0	0
ARL14EP	120534	broad.mit.edu	37	11	30352778	30352778	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:30352778T>G	ENST00000282032.3	+	2	498	c.283T>G	c.(283-285)Tta>Gta	p.L95V		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein									p.L95V(1)									TGTAATTGACTTAGATGATGC	0.348000													9	210					0	0	0.010729	0	0
COL9A1	1297	broad.mit.edu	37	6	70964868	70964868	+	Silent	SNP	C	C	A	rs145650924		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:70964868C>A	ENST00000357250.6	-	23	1754	c.1596G>T	c.(1594-1596)ggG>ggT	p.G532G	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.G289G|COL9A1_ENST00000320755.7_Silent_p.G289G	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	532	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G289G(1)|p.G532G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCCTTTGGGCCCAGGGAGAC	0.423000													35	117					6.5261e-18	1.10322e-17	0.008740	1	0
FUT11	170384	broad.mit.edu	37	10	75533453	75533453	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:75533453A>T	ENST00000372841.3	+	2	1257	c.1214A>T	c.(1213-1215)cAc>cTc	p.H405L	FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Missense_Mutation_p.H405L	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	405					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.H405L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GAGAAAGCCCACGCGGCCTCT	0.597000													7	76					0	0	0.001984	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433087	73433087	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:73433087G>T	ENST00000263666.4	-	10	2744	c.2630C>A	c.(2629-2631)gCc>gAc	p.A877D	PDZRN3_ENST00000466780.1_Missense_Mutation_p.A534D|PDZRN3_ENST00000535920.1_Missense_Mutation_p.A599D|PDZRN3_ENST00000479530.1_Missense_Mutation_p.A594D|PDZRN3_ENST00000462146.2_Missense_Mutation_p.A534D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	877							ubiquitin-protein ligase activity|zinc ion binding	p.A877D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTAGTGCTGGGCGTGCGCCGG	0.647000													8	69					5.18039e-06	6.93977e-06	0.003080	1	0
PLD5	200150	broad.mit.edu	37	1	242383405	242383405	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:242383405G>A	ENST00000442594.2	-	6	853	c.344C>T	c.(343-345)aCg>aTg	p.T115M	PLD5_ENST00000427495.1_Missense_Mutation_p.T145M|PLD5_ENST00000536534.1_Missense_Mutation_p.T207M	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	207						integral to membrane	catalytic activity	p.T115M(3)|p.T207M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTTCATGTACGTCACCTCGGC	0.557000													18	54					0	0	0.004990	0	0
FASN	2194	broad.mit.edu	37	17	80045689	80045689	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:80045689G>A	ENST00000306749.2	-	19	3133	c.2915C>T	c.(2914-2916)cCg>cTg	p.P972L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	972					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.P972L(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGGCTTTCCGGGTGGTCGAA	0.652000													9	31					0	0	0.008291	0	0
OVCH1	341350	broad.mit.edu	37	12	29614829	29614829	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:29614829G>T	ENST00000318184.5	-	19	2237	c.2238C>A	c.(2236-2238)atC>atA	p.I746I	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	746	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.I746I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGCCAGCACAGATCATCTTCT	0.458000													7	164					2.7689e-08	4.01207e-08	0.001984	1	0
TMEM132E	124842	broad.mit.edu	37	17	32961989	32961989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:32961989G>A	ENST00000321639.5	+	8	1918	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	530						integral to membrane		p.W530*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCGGACTGGCTGGTGGAGG	0.627000													4	40					0	0	0.009096	0	0
AFF2	2334	broad.mit.edu	37	X	148037217	148037217	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:148037217C>A	ENST00000370460.2	+	11	2121	c.1642C>A	c.(1642-1644)Caa>Aaa	p.Q548K	AFF2_ENST00000370457.5_Missense_Mutation_p.Q515K|AFF2_ENST00000342251.3_Missense_Mutation_p.Q515K|AFF2_ENST00000286437.5_Missense_Mutation_p.Q189K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	548				Q -> P (in Ref. 1; AAC82513, 2; AAA99416 and 4; AAB71534).	brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.Q548K(1)|p.P548T(1)|p.Q189K(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TATTTGTGGCCAAAATGAAAC	0.463000													33	401					2.09667e-21	3.66433e-21	0.003755	1	0
SH3GL2	6456	broad.mit.edu	37	9	17795682	17795682	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:17795682G>T	ENST00000380607.4	+	9	1120	c.1000G>T	c.(1000-1002)Ggc>Tgc	p.G334C	SH3GL2_ENST00000537391.1_Missense_Mutation_p.G287C	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	334	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	p.G334C(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATGCTGCATGGCCATTCAGG	0.478000													6	38					1.06961e-07	1.51885e-07	0.003080	1	0
CD5L	922	broad.mit.edu	37	1	157805847	157805847	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:157805847C>A	ENST00000368174.4	-	3	250	c.154G>T	c.(154-156)Ggc>Tgc	p.G52C	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	52	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.G52C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATGTCCCAGCCGTCATCACAC	0.617000													28	139					2.41591e-17	4.01239e-17	0.004656	1	0
DGKI	9162	broad.mit.edu	37	7	137148322	137148322	+	Missense_Mutation	SNP	C	C	A	rs78898727		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:137148322C>A	ENST00000424189.2	-	28	2940	c.2711G>T	c.(2710-2712)cGc>cTc	p.R904L	DGKI_ENST00000288490.5_Missense_Mutation_p.R891L|DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.R873L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	891					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R891L(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACTCAGCATGCGTTTCCGCAG	0.507000													6	39					3.59834e-05	4.51182e-05	0.001168	1	0
OR8U1	219417	broad.mit.edu	37	11	56143852	56143852	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:56143852C>A	ENST00000302270.1	+	1	753	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.F251L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCACCATATTCTATGGGACCC	0.483000													33	96					4.39465e-27	7.7762e-27	0.002836	1	0
RPGR	6103	broad.mit.edu	37	X	38144877	38144877	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:38144877C>A	ENST00000378505.2	-	15	3551	c.3375G>T	c.(3373-3375)caG>caT	p.Q1125H	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	909					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.Q1125H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTCGTTTTGACTGGACTGGCA	0.358000													34	231					5.43694e-19	9.23556e-19	0.005524	1	0
TRIM48	79097	broad.mit.edu	37	11	55032690	55032690	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:55032690G>T	ENST00000417545.2	+	2	445	c.359G>T	c.(358-360)tGt>tTt	p.C120F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	104						intracellular	zinc ion binding	p.C104F(1)|p.C120F(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAGATGTTCTGTGAAGTGGAC	0.537000													9	60					0.00448238	0.0050118	0.004482	1	0
ARHGAP44	9912	broad.mit.edu	37	17	12883520	12883520	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:12883520G>T	ENST00000379672.5	+	19	2209	c.1909G>T	c.(1909-1911)Gca>Tca	p.A637S	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.A637S|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.A631S	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	637					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.A637S(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCAGCCGCCTGCAGACCAGAG	0.652000													5	25					8.12818e-05	9.84394e-05	0.001984	1	0
PLD5	200150	broad.mit.edu	37	1	242383324	242383324	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:242383324C>A	ENST00000442594.2	-	6	934	c.425G>T	c.(424-426)gGc>gTc	p.G142V	PLD5_ENST00000427495.1_Missense_Mutation_p.G172V|PLD5_ENST00000536534.1_Missense_Mutation_p.G234V	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	234						integral to membrane	catalytic activity	p.G142V(1)|p.G234V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ACCGGCACTGCCGATATACAC	0.517000													10	56					3.86212e-05	4.76888e-05	0.008291	1	0
OR6B2	389090	broad.mit.edu	37	2	240969109	240969109	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:240969109G>T	ENST00000402971.2	-	1	797	c.738C>A	c.(736-738)acC>acA	p.T246T		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T246T(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CGGTGACCACGGTGAGGTGAG	0.572000													4	52					0.00909568	0.00991621	0.009096	1	0
NEB	4703	broad.mit.edu	37	2	152472566	152472566	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:152472566C>G	ENST00000427231.2	-	76	11441	c.11239G>C	c.(11239-11241)Gat>Cat	p.D3747H	NEB_ENST00000172853.10_Missense_Mutation_p.D3504H|NEB_ENST00000603639.1_Missense_Mutation_p.D3747H|NEB_ENST00000604864.1_Missense_Mutation_p.D3747H|NEB_ENST00000397345.3_Missense_Mutation_p.D3747H|NEB_ENST00000409198.1_Missense_Mutation_p.D3504H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3747					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.D3747H(1)|p.D3504H(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGAATGGCATCCAGACGCAAG	0.378000													3	42					0	0	0.004672	0	0
LRRC49	54839	broad.mit.edu	37	15	71329524	71329524	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr15:71329524G>T	ENST00000260382.5	+	15	1970	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	LRRC49_ENST00000560691.1_Missense_Mutation_p.K276N|LRRC49_ENST00000544974.2_Missense_Mutation_p.K560N|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.K575N|LRRC49_ENST00000560158.2_Missense_Mutation_p.K258N|LRRC49_ENST00000443425.2_Missense_Mutation_p.K526N	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	570						cytoplasm|microtubule		p.K570N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACAGGAAAAAGCAATTTCGGT	0.318000													7	114					0.000157383	0.000187802	0.003080	1	0
RYR1	6261	broad.mit.edu	37	19	39008033	39008033	+	Silent	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:39008033T>C	ENST00000355481.4	+	66	9851	c.9720T>C	c.(9718-9720)tgT>tgC	p.C3240C	RYR1_ENST00000359596.3_Silent_p.C3240C|RYR1_ENST00000360985.3_Silent_p.C3240C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3240					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.C3240C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGAGATGTGTCCCGACATCC	0.647000													3	40					0	0	0.009096	0	0
OR51F2	119694	broad.mit.edu	37	11	4843470	4843470	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:4843470T>G	ENST00000322110.5	+	1	920	c.855T>G	c.(853-855)ttT>ttG	p.F285L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F285L(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCTCCATTTGTCCACATCA	0.443000													16	102					0	0	0.010504	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635362	65635362	+	Silent	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:65635362A>T	ENST00000307998.6	-	10	1370	c.1140T>A	c.(1138-1140)gcT>gcA	p.A380A	EFEMP2_ENST00000528176.1_Silent_p.A380A	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	380					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	p.A380A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCGAGTTTCCAGCACGGATCT	0.547000													31	84					0	0	0.003755	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342547	40342547	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:40342547C>A	ENST00000406785.1	-	8	2849	c.2660G>T	c.(2659-2661)gGg>gTg	p.G887V	SLC8A1_ENST00000332839.4_Missense_Mutation_p.G923V|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G918V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G887V|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G915V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G887V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G918V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G887V|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G923V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G887V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	923					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.G923V(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGCAGCACCCCCACATTGAT	0.562000													12	51					9.31168e-06	1.23288e-05	0.001855	1	0
WBSCR27	155368	broad.mit.edu	37	7	73249147	73249147	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:73249147G>A	ENST00000297873.4	-	6	713	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	222								p.L222L(1)		NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				ATCCTTGGCAGAGATGCCGGA	0.642000													5	51					0	0	0.001168	0	0
KAT6A	7994	broad.mit.edu	37	8	41792282	41792282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:41792282C>T	ENST00000396930.3	-	18	3999	c.3456G>A	c.(3454-3456)tgG>tgA	p.W1152*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.W1152*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.W1152*	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1152					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.W1152*(1)									TGCCTTTGGGCCATCCCTTTT	0.438000													31	437					0	0	0.012213	0	0
KCNA10	3744	broad.mit.edu	37	1	111060811	111060811	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:111060811C>T	ENST00000369771.2	-	1	986	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	200			R -> H (in a colorectal cancer sample; somatic mutation).			voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R200H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCAGAACTGACGGTGGATGTC	0.547000													5	77					0	0	0.001168	0	0
F13A1	2162	broad.mit.edu	37	6	6145961	6145961	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:6145961C>A	ENST00000264870.3	-	15	2355	c.2090G>T	c.(2089-2091)cGg>cTg	p.R697L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	697					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R697L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GACCCAGGGCCGGCACACTTC	0.542000													16	74					6.94344e-10	1.05451e-09	0.006122	1	0
TRPS1	7227	broad.mit.edu	37	8	116426404	116426404	+	Silent	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:116426404A>G	ENST00000395715.3	-	7	4309	c.3732T>C	c.(3730-3732)gcT>gcC	p.A1244A	TRPS1_ENST00000220888.5_Silent_p.A1231A|TRPS1_ENST00000519076.1_Silent_p.A985A|TRPS1_ENST00000520276.1_Silent_p.A1235A	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1231	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A1231A(1)|p.A1244A(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCATATGCAAAGCATACATCA	0.413000									Langer-Giedion syndrome				21	130					0	0	0.002299	0	0
LMO7	4008	broad.mit.edu	37	13	76379705	76379705	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:76379705A>T	ENST00000357063.3	+	10	2421	c.1161A>T	c.(1159-1161)aaA>aaT	p.K387N	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.K102N|LMO7_ENST00000465261.2_Missense_Mutation_p.K102N|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.K387N|LMO7_ENST00000526202.1_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	387						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.K102N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGAGGAAAAAGCAAAGACAA	0.428000													22	172					0	0	0.010504	0	0
NALCN	259232	broad.mit.edu	37	13	101756712	101756712	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:101756712G>A	ENST00000251127.6	-	25	2904	c.2823C>T	c.(2821-2823)ggC>ggT	p.G941G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	941						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G941G(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAAAATAAGCCATCTGCCA	0.368000													8	66					0	0	0.006214	0	0
YLPM1	56252	broad.mit.edu	37	14	75264581	75264581	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:75264581G>A	ENST00000325680.7	+	5	2705	c.2581G>A	c.(2581-2583)Gga>Aga	p.G861R	YLPM1_ENST00000238571.3_Missense_Mutation_p.G666R|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	666	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.G861R(1)|p.G666R(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTCTTTCAGGAAACAAAGA	0.453000													8	72					0	0	0.003080	0	0
LRRN2	10446	broad.mit.edu	37	1	204588512	204588512	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:204588512G>T	ENST00000367175.1	-	1	2821	c.609C>A	c.(607-609)gcC>gcA	p.A203A	LRRN2_ENST00000367177.3_Silent_p.A203A|LRRN2_ENST00000367176.3_Silent_p.A203A			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	203					cell adhesion	integral to membrane	receptor activity	p.A203A(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGTCCAGGATGGCATCTACCT	0.582000													17	63					2.48551e-13	3.96564e-13	0.004990	1	0
MAP3K9	4293	broad.mit.edu	37	14	71209068	71209068	+	Splice_Site	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:71209068C>A	ENST00000554752.2	-	6	1566	c.1567_splice	c.e6+1	p.D523_splice	MAP3K9_ENST00000554146.1_Splice_Site_p.D260_splice|MAP3K9_ENST00000553414.1_Splice_Site_p.D217_splice|MAP3K9_ENST00000555993.2_Splice_Site_p.D523_splice|MAP3K9_ENST00000381250.4_Splice_Site_p.D523_splice			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	523				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.D523Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGCCACTGACCAGAAGGGAGG	0.607000													8	115					1.12685e-05	1.47818e-05	0.004482	1	0
TMEM132E	124842	broad.mit.edu	37	17	32961968	32961968	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:32961968C>T	ENST00000321639.5	+	8	1897	c.1569C>T	c.(1567-1569)gtC>gtT	p.V523V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	523						integral to membrane		p.V523V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		ACCAGGTGGTCACCATGTTAG	0.617000													3	51					0	0	0.009096	0	0
OR1L8	138881	broad.mit.edu	37	9	125329898	125329898	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:125329898G>T	ENST00000304865.2	-	1	940	c.859C>A	c.(859-861)Cct>Act	p.P287T		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TAGATAAAAGGATTGAGCATG	0.458000													15	123					4.7546e-09	7.01458e-09	0.004007	1	0
ALMS1	7840	broad.mit.edu	37	2	73717864	73717864	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:73717864A>T	ENST00000264448.6	+	10	8886	c.8775A>T	c.(8773-8775)caA>caT	p.Q2925H	ALMS1_ENST00000409009.1_Missense_Mutation_p.Q2883H	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2925					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.Q2925H(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCTTGAACAACGAGAACTCT	0.453000													23	251					0	0	0.002299	0	0
TMEM156	80008	broad.mit.edu	37	4	39000506	39000506	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:39000506G>C	ENST00000381938.3	-	2	219	c.112C>G	c.(112-114)Ctg>Gtg	p.L38V	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	38						integral to membrane		p.L38V(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CACACTTCCAGACATGATAGC	0.323000													13	40					0	0	0.002450	0	0
COL6A3	1293	broad.mit.edu	37	2	238249699	238249699	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:238249699C>A	ENST00000295550.4	-	38	8312	c.7860G>T	c.(7858-7860)atG>atT	p.M2620I	COL6A3_ENST00000347401.3_Missense_Mutation_p.M2419I|COL6A3_ENST00000472056.1_Missense_Mutation_p.M2013I|COL6A3_ENST00000409809.1_Missense_Mutation_p.M2414I|COL6A3_ENST00000353578.4_Missense_Mutation_p.M2414I|COL6A3_ENST00000346358.4_Missense_Mutation_p.M2420I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2620	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.M2620I(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGATGAAAGCCATGTCGATGT	0.527000													48	169					1.56793e-16	2.57394e-16	0.003610	1	0
MSL3	10943	broad.mit.edu	37	X	11790301	11790301	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:11790301C>T	ENST00000380693.3	+	10	1447	c.810C>T	c.(808-810)gaC>gaT	p.D270D	MSL3_ENST00000361672.2_Silent_p.D287D|MSL3_ENST00000398527.2_Silent_p.D424D|MSL3_ENST00000312196.4_Silent_p.D436D	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	436					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	p.D436D(2)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTGTGCCTGACAATTACCCCC	0.463000													8	178					0	0	0.006214	0	0
AKAP6	9472	broad.mit.edu	37	14	33293463	33293463	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:33293463C>A	ENST00000280979.4	+	13	6614	c.6444C>A	c.(6442-6444)gaC>gaA	p.D2148E	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2148					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.D2148E(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCTTAGATGACAAGGAAGATA	0.463000													4	43					0.00909568	0.00991621	0.009096	1	0
CDH2	1000	broad.mit.edu	37	18	25565006	25565006	+	Missense_Mutation	SNP	C	C	A	rs151110746		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr18:25565006C>A	ENST00000269141.3	-	13	2590	c.2167G>T	c.(2167-2169)Ggt>Tgt	p.G723C	CDH2_ENST00000399380.3_Missense_Mutation_p.G692C	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	723					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G723C(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGATGGCACCGGTGCCAAGC	0.483000													10	28					0.00621372	0.0068399	0.006214	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23833297	23833297	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:23833297G>T	ENST00000264867.2	-	3	431	c.312C>A	c.(310-312)gaC>gaA	p.D104E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	104					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.D104E(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGGGCAATCCGTCTTCATCCA	0.512000													62	278					6.00099e-30	1.06518e-29	0.003610	1	0
LCE2C	353140	broad.mit.edu	37	1	152648533	152648533	+	Silent	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:152648533C>G	ENST00000368783.1	+	2	97	c.42C>G	c.(40-42)ccC>ccG	p.P14P	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	14	Cys-rich.				keratinization			p.P14P(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCCcctcccaagtgtcctc	0.493000													21	109					0	0	0.002780	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102496195	102496195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:102496195G>T	ENST00000360184.4	+	50	9846	c.9682G>T	c.(9682-9684)Gag>Tag	p.E3228*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3228	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.E3228*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAAGAGCCAAGAGCTGGAGGT	0.463000													12	80					0.00136819	0.00155117	0.001368	1	0
GABRG3	2567	broad.mit.edu	37	15	27725868	27725868	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr15:27725868G>T	ENST00000333743.6	+	6	901	c.647G>T	c.(646-648)tGg>tTg	p.W216L	GABRG3_ENST00000555083.1_Missense_Mutation_p.W216L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	216					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.W216L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CAGAAATCATGGCGGCTTTAT	0.418000													3	22					0.00909568	0.00991621	0.009096	1	0
COIL	8161	broad.mit.edu	37	17	55038196	55038196	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:55038196T>C	ENST00000240316.4	-	1	219	c.185A>G	c.(184-186)gAg>gGg	p.E62G		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	62						Cajal body|nucleolus	protein C-terminus binding	p.E62G(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GAGCCCCCCCTCCAGGTAGAG	0.672000													4	8					0	0	0.009096	0	0
HRH2	3274	broad.mit.edu	37	5	175110816	175110816	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:175110816C>G	ENST00000231683.2	+	1	2353	c.580C>G	c.(580-582)Ccg>Gcg	p.P194A	HRH2_ENST00000377291.2_Missense_Mutation_p.P194A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	194					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	p.P194A(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTTCTACCTCCCGCTACTGAT	0.542000													4	51					0	0	0.009096	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769436	31769436	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:31769436C>G	ENST00000240587.4	-	2	1590	c.1263G>C	c.(1261-1263)aaG>aaC	p.K421N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	421					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K238N(1)|p.K421N(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGGCTTCCCCTTTTTCATAG	0.582000													13	101					0	0	0.001368	0	0
APBB3	10307	broad.mit.edu	37	5	139943781	139943781	+	Splice_Site	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:139943781C>T	ENST00000357560.4	-	1	493		c.e1+1		APBB3_ENST00000356738.2_Splice_Site|APBB3_ENST00000412920.3_Splice_Site|APBB3_ENST00000507279.1_Intron|APBB3_ENST00000508496.2_Splice_Site|APBB3_ENST00000358580.5_Splice_Site|APBB3_ENST00000354402.5_Splice_Site|APBB3_ENST00000511201.2_Splice_Site	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3							actin cytoskeleton|cytoplasm		p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGTGCACACCATCGCAGTT	0.637000													8	15					0	0	0.008291	0	0
CD163	9332	broad.mit.edu	37	12	7639558	7639558	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:7639558G>T	ENST00000359156.4	-	9	2277	c.2075C>A	c.(2074-2076)tCg>tAg	p.S692*	CD163_ENST00000432237.2_Nonsense_Mutation_p.S692*|CD163_ENST00000541972.1_Nonsense_Mutation_p.S680*|CD163_ENST00000396620.3_Nonsense_Mutation_p.S725*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	692					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.S692*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGAATTGCACGAGGACAGTGT	0.438000													11	47					3.86212e-05	4.76888e-05	0.008291	1	0
FAT3	120114	broad.mit.edu	37	11	92534672	92534672	+	Silent	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:92534672C>G	ENST00000298047.6	+	9	8510	c.8493C>G	c.(8491-8493)acC>acG	p.T2831T	FAT3_ENST00000525166.1_Silent_p.T2681T|FAT3_ENST00000409404.2_Silent_p.T2831T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2831	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.T2831T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGTTGGCACCAAACTCACAC	0.448000										TCGA Ovarian(4;0.039)			9	7					0	0	0.004482	0	0
MBD1	4152	broad.mit.edu	37	18	47796406	47796406	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr18:47796406T>C	ENST00000339998.6	-	14	1766	c.1628A>G	c.(1627-1629)tAt>tGt	p.Y543C	MBD1_ENST00000585672.1_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000269468.5_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000349085.2_Intron	NM_001204142.1	NP_001191071.1	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	0	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Y543C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						ATAAATTTCATATAGATCATT	0.393000													29	61					0	0	0.008361	0	0
TPR	7175	broad.mit.edu	37	1	186286693	186286693	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:186286693C>G	ENST00000367478.3	-	49	7157	c.6861G>C	c.(6859-6861)caG>caC	p.Q2287H		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2287					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.Q2274H(1)|p.Q2287H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCTCTTCTTCCTGCTGGCTAT	0.438000			T	NTRK1	papillary thyroid								13	59					0	0	0.002450	0	0
MYPN	84665	broad.mit.edu	37	10	69957180	69957180	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:69957180A>C	ENST00000358913.5	+	16	3718	c.3230A>C	c.(3229-3231)cAg>cCg	p.Q1077P	MYPN_ENST00000540630.1_Missense_Mutation_p.Q1077P|MYPN_ENST00000354393.2_Missense_Mutation_p.Q802P	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1077	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding	p.Q1077P(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CATTTCCTGCAGGCTCCTGGG	0.488000													14	168					0	0	0.004007	0	0
ZNF831	128611	broad.mit.edu	37	20	57829409	57829409	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:57829409T>A	ENST00000371030.2	+	5	4645	c.4645T>A	c.(4645-4647)Tct>Act	p.S1549T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1549						intracellular	nucleic acid binding|zinc ion binding	p.S1549T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAGACCTTCATCTGGACAAAG	0.498000													11	44					0	0	0.008291	0	0
XIRP2	129446	broad.mit.edu	37	2	168114688	168114688	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:168114688G>A	ENST00000409728.1	+	11	1820	c.1731G>A	c.(1729-1731)gaG>gaA	p.E577E	XIRP2_ENST00000409043.1_Silent_p.E544E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Silent_p.E544E|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Silent_p.E322E|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Silent_p.E577E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.E577E(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTCCAAGGAGATCCCTAAGA	0.408000													10	76					0	0	0.006214	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651013	121651013	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:121651013G>A	ENST00000393386.2	+	12	2324	c.1913G>A	c.(1912-1914)gGt>gAt	p.G638D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.G638D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	638					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.G638D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTTCATCAGGTTCAGAAGAA	0.423000													14	94					0	0	0.003163	0	0
SCN3A	6328	broad.mit.edu	37	2	165946747	165946747	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:165946747A>C	ENST00000360093.3	-	28	6407	c.5916T>G	c.(5914-5916)agT>agG	p.S1972R	SCN3A_ENST00000540861.1_Missense_Mutation_p.S455R|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1972R|SCN3A_ENST00000409101.3_Missense_Mutation_p.S1923R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1972						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1923R(1)|p.S1972R(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTTGTTACACTATCATAGG	0.358000													5	35					0	0	0.001168	0	0
OGT	8473	broad.mit.edu	37	X	70783033	70783033	+	Silent	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:70783033A>T	ENST00000373719.3	+	17	2419	c.2202A>T	c.(2200-2202)atA>atT	p.I734I	OGT_ENST00000373701.3_Silent_p.I724I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	734					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.I724I(1)|p.I734I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACAATCGGATAGTTCTGAATG	0.343000													5	153					0	0	0.000602	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741367	242741367	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:242741367C>A	ENST00000192314.6	+	3	422	c.291C>A	c.(289-291)ctC>ctA	p.L97L		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	97					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L97L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACCCCTGGCTCTTCCTGGCGC	0.662000													11	47					0.000673444	0.000774324	0.008291	1	0
KIN	22944	broad.mit.edu	37	10	7804421	7804421	+	Splice_Site	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:7804421T>A	ENST00000379562.3	-	11	1064	c.1018_splice	c.e11+1	p.P339_splice	KIN_ENST00000543003.1_Splice_Site_p.P233_splice|KIN_ENST00000535925.1_Splice_Site_p.P339_splice|KIN_ENST00000463666.1_5'UTR			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	339					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	p.P339P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CAGATTTACCTGGTGCTGGAA	0.363000													12	106					0	0	0.001368	0	0
TENM1	10178	broad.mit.edu	37	X	123519722	123519722	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:123519722C>A	ENST00000422452.2	-	29	5944	c.5881G>T	c.(5881-5883)Ggc>Tgc	p.G1961C	TENM1_ENST00000371130.3_Missense_Mutation_p.G1954C|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.G1956C(1)									AGCAATCGGCCATCTCGACTA	0.498000													8	159					0.000274275	0.000323212	0.004482	1	0
OR4C16	219428	broad.mit.edu	37	11	55340091	55340091	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:55340091G>T	ENST00000314634.3	+	1	488	c.488G>T	c.(487-489)aGt>aTt	p.S163I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S163I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTTGCCCTGAGTTTGCCATTC	0.468000													38	156					8.16277e-20	1.40926e-19	0.006999	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68938203	68938203	+	Splice_Site	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:68938203G>T	ENST00000356291.2	-	5	411	c.350_splice	c.e5-1	p.P118_splice	RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	118	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.P118T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGTTCATCTGGACTGAAGAAC	0.294000													11	67					5.50884e-06	7.32791e-06	0.001368	1	0
OR5V1	81696	broad.mit.edu	37	6	29323943	29323943	+	Silent	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:29323943A>G	ENST00000377154.1	-	4	329	c.30T>C	c.(28-30)acT>acC	p.T10T	OR5V1_ENST00000543825.1_Silent_p.T10T			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T10T(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGATGAATTCAGTTATAGCTG	0.353000													40	72					0	0	0.008740	0	0
UPP1	7378	broad.mit.edu	37	7	48143002	48143002	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:48143002G>A	ENST00000331803.4	+	7	1053	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	UPP1_ENST00000341253.4_Missense_Mutation_p.G144R|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.G144R|UPP1_ENST00000482015.1_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	144					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	p.G144R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						CACTTCTGGTGGGATAGGTAA	0.522000													6	89					0	0	0.001168	0	0
COL4A5	1287	broad.mit.edu	37	X	107807111	107807111	+	Splice_Site	SNP	G	G	T	rs104886350		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:107807111G>T	ENST00000328300.6	+	4	475		c.e4-1		COL4A5_ENST00000361603.2_Splice_Site	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5						axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.?(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						GCATTTTTCAGGGTGATGATG	0.333000									Alport syndrome with Diffuse Leiomyomatosis				14	45					0.000422831	0.000496215	0.004007	1	0
USP10	9100	broad.mit.edu	37	16	84779061	84779061	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr16:84779061A>G	ENST00000219473.7	+	4	1087	c.974A>G	c.(973-975)gAc>gGc	p.D325G	USP10_ENST00000570191.1_Missense_Mutation_p.D329G	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	325					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D325G(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CCTCCTGCTGACGGCACGGGC	0.612000													3	19					0	0	0.004672	0	0
CC2D1A	54862	broad.mit.edu	37	19	14040397	14040397	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:14040397G>C	ENST00000318003.7	+	26	2875	c.2634G>C	c.(2632-2634)caG>caC	p.Q878H	CC2D1A_ENST00000589606.1_Missense_Mutation_p.Q877H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	878					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	p.Q878H(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AAGTGGCCCAGCAGTACCAGG	0.657000													4	11					0	0	0.000602	0	0
FNDC1	84624	broad.mit.edu	37	6	159653518	159653518	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:159653518C>A	ENST00000297267.9	+	11	2174	c.1974C>A	c.(1972-1974)caC>caA	p.H658Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.H595Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	658						extracellular region		p.H658Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTCCCTCCACCCCAAGGGCG	0.677000													8	33					0.000274275	0.000323212	0.004482	1	0
DNAI2	64446	broad.mit.edu	37	17	72301559	72301559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:72301559G>T	ENST00000579490.1	+	8	1495	c.1360G>T	c.(1360-1362)Gaa>Taa	p.E454*	DNAI2_ENST00000446837.2_Nonsense_Mutation_p.E397*|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.E397*|DNAI2_ENST00000307504.5_Nonsense_Mutation_p.E254*|DNAI2_ENST00000311014.6_Nonsense_Mutation_p.E397*			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	397					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.E397*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGACAGCCGGGAATCGTCCAT	0.612000									Kartagener syndrome				4	28					0.000602214	0.000695239	0.000602	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589623	140589623	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:140589623G>T	ENST00000239450.2	+	1	1333	c.1144G>T	c.(1144-1146)Gtt>Ttt	p.V382F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V45F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		382	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.V382F(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAAAGATGGTTTGTTCTAT	0.458000													10	38					1.08611e-07	1.53843e-07	0.010729	1	0
IRS4	8471	broad.mit.edu	37	X	107977781	107977781	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:107977781T>A	ENST00000372129.2	-	1	1870	c.1794A>T	c.(1792-1794)aaA>aaT	p.K598N		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	598						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.K598N(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CATCGGATCCTTTCCCACTTC	0.537000													77	174					0	0	0.003610	0	0
RAB3B	5865	broad.mit.edu	37	1	52403027	52403027	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:52403027T>A	ENST00000371655.3	-	3	498	c.286A>T	c.(286-288)Atg>Ttg	p.M96L		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	96					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.M96L(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						ATGAAGCCCATGGCCCCACGG	0.458000													15	114					0	0	0.004990	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386414	118386414	+	RNA	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:118386414G>A	ENST00000537242.1	+	0	396				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	p.D124N(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CATCTGTGTGGACTGGAGGCA	0.502000													3	18					0	0	0.004672	0	0
MASP1	5648	broad.mit.edu	37	3	186953545	186953545	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:186953545G>T	ENST00000296280.6	-	11	2339	c.2114C>A	c.(2113-2115)tCc>tAc	p.S705Y	MASP1_ENST00000392472.2_Missense_Mutation_p.S592Y|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	685					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.S705Y(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CACGTAATTGGAGACCTTTGT	0.587000													7	37					2.0095e-06	2.71761e-06	0.001984	1	0
CSMD3	114788	broad.mit.edu	37	8	113326767	113326767	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:113326767A>T	ENST00000297405.5	-	48	7684	c.7440T>A	c.(7438-7440)aaT>aaA	p.N2480K	CSMD3_ENST00000343508.3_Missense_Mutation_p.N2440K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N2376K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N2410K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2480	CUB 14.					integral to membrane|plasma membrane		p.N2480K(1)|p.N2440K(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						ACATTTGAAGATTTGGGTAAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	121					0	0	0.000602	0	0
WT1	7490	broad.mit.edu	37	11	32413601	32413601	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:32413601G>T	ENST00000332351.3	-	9	1633	c.1349C>A	c.(1348-1350)cCa>cAa	p.P450Q	WT1_ENST00000530998.1_Missense_Mutation_p.P221Q|WT1_ENST00000448076.3_Missense_Mutation_p.P450Q|WT1_ENST00000379079.2_Missense_Mutation_p.P238Q	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	382					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V380_S410del(1)|p.P382Q(1)|p.P238Q(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ACACTGGAATGGTTTCACACC	0.522000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				33	194					1.36615e-20	2.36576e-20	0.002836	1	0
CDX4	1046	broad.mit.edu	37	X	72674386	72674386	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:72674386C>A	ENST00000373514.2	+	3	820	c.820C>A	c.(820-822)Cct>Act	p.P274T		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGGATTTCAACCTATTGAGAT	0.428000													10	46					3.86212e-05	4.76888e-05	0.008291	1	0
ZNF257	113835	broad.mit.edu	37	19	22271585	22271585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:22271585C>T	ENST00000594947.1	+	4	1177	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q345E(1)|p.Q345*(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAACCCTTCCAATGTGAAGA	0.418000													8	32					0	0	0.004482	0	0
CAPN10	11132	broad.mit.edu	37	2	241535790	241535790	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:241535790G>A	ENST00000391984.2	+	8	1529	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.G445S|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	445	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	p.G445S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CCCCGTGGCTGGCACCGCGTG	0.667000													6	69					0	0	0.001168	0	0
ELMO1	9844	broad.mit.edu	37	7	36917705	36917705	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:36917705G>T	ENST00000310758.4	-	19	2379	c.1732C>A	c.(1732-1734)Cgg>Agg	p.R578R	ELMO1_ENST00000442504.1_Silent_p.R578R|ELMO1_ENST00000396040.2_Silent_p.R98R|ELMO1_ENST00000448602.1_Silent_p.R578R|ELMO1_ENST00000396045.3_Silent_p.R98R|ELMO1_ENST00000341056.3_Silent_p.R280R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	578	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.R578R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGCGAAAGCCGACAATACCAA	0.418000													5	57					0.000602214	0.000695239	0.000602	1	0
ZNF208	7757	broad.mit.edu	37	19	22155045	22155045	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:22155045C>G	ENST00000397126.4	-	4	2939	c.2791G>C	c.(2791-2793)Gtc>Ctc	p.V931L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.V831L(2)|p.V931L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTACTAAAGACTGACAACCAG	0.373000													4	30					0	0	0.009096	0	0
CNTN1	1272	broad.mit.edu	37	12	41337491	41337491	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:41337491G>T	ENST00000551295.2	+	13	1589	c.1472G>T	c.(1471-1473)gGg>gTg	p.G491V	CNTN1_ENST00000547702.1_Missense_Mutation_p.G491V|CNTN1_ENST00000348761.2_Missense_Mutation_p.G480V|CNTN1_ENST00000347616.1_Missense_Mutation_p.G491V|CNTN1_ENST00000360099.3_Missense_Mutation_p.G491V|CNTN1_ENST00000547849.1_Missense_Mutation_p.G491V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	491	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.G491V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AATAACAGAGGGAAAGCTAAT	0.353000													5	63					3.59834e-05	4.51182e-05	0.001168	1	0
GPR4	2828	broad.mit.edu	37	19	46094546	46094546	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:46094546C>A	ENST00000323040.4	-	2	1523	c.579G>T	c.(577-579)ccG>ccT	p.P193P	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	193						integral to plasma membrane	G-protein coupled receptor activity	p.P193P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TGAGCGCCCACGGGAAGAGGA	0.642000													3	43					0.004672	0.00516283	0.004672	1	0
PRSS55	203074	broad.mit.edu	37	8	10383137	10383137	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:10383137G>T	ENST00000328655.3	+	1	82	c.42G>T	c.(40-42)acG>acT	p.T14T	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.T14T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	14					proteolysis	integral to membrane	serine-type endopeptidase activity	p.T14T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCCTGGTCACGGGAACTCAGC	0.677000													5	43					8.12818e-05	9.84394e-05	0.001984	1	0
MAP4	4134	broad.mit.edu	37	3	47956349	47956349	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:47956349G>C	ENST00000426837.2	-	9	2095	c.2008C>G	c.(2008-2010)Cca>Gca	p.P670A	MAP4_ENST00000395734.3_Missense_Mutation_p.P653A|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.P653A			P27816	MAP4_HUMAN	microtubule-associated protein 4	653					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.P653A(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CTGTTGCATGGTTTCCTTTCC	0.433000													22	172					0	0	0.010504	0	0
OTUD5	55593	broad.mit.edu	37	X	48781242	48781242	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:48781242G>C	ENST00000156084.4	-	7	1426	c.1366C>G	c.(1366-1368)Cgg>Ggg	p.R456G	OTUD5_ENST00000396743.3_Missense_Mutation_p.R451G|OTUD5_ENST00000376488.3_Missense_Mutation_p.R451G|OTUD5_ENST00000428668.2_Missense_Mutation_p.R234G	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	456					negative regulation of type I interferon production		cysteine-type peptidase activity	p.R427G(1)|p.R456G(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GCTGAACTCCGCTGCCGCGGG	0.637000													4	14					0	0	0.009096	0	0
HABP2	3026	broad.mit.edu	37	10	115334134	115334134	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:115334134C>A	ENST00000351270.3	+	3	289	c.193C>A	c.(193-195)Cct>Act	p.P65T	HABP2_ENST00000537906.1_Silent_p.I53I|HABP2_ENST00000542051.1_Missense_Mutation_p.P39T|HABP2_ENST00000541666.1_Missense_Mutation_p.P65T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	65					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	p.P65T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CGCTGAGAATCCTGACTGGTA	0.507000													18	95					1.99824e-07	2.8094e-07	0.004990	1	0
NLRP14	338323	broad.mit.edu	37	11	7070935	7070935	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:7070935G>T	ENST00000299481.4	+	6	2503	c.2157G>T	c.(2155-2157)caG>caT	p.Q719H		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	719					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.Q719H(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGGTTGTCAGGATATCTCTA	0.383000													33	138					4.74835e-14	7.61883e-14	0.010818	1	0
CACNA2D1	781	broad.mit.edu	37	7	81624225	81624225	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:81624225C>G	ENST00000356860.3	-	20	2031	c.1693G>C	c.(1693-1695)Gga>Cga	p.G565R	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G584R	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	584						voltage-gated calcium channel complex	metal ion binding	p.G565R(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTTTTTTCTCCACTTTCCCCA	0.289000													7	63					0	0	0.003080	0	0
ZNF585B	92285	broad.mit.edu	37	19	37678135	37678135	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:37678135A>T	ENST00000532828.2	-	5	555	c.304T>A	c.(304-306)Tgg>Agg	p.W102R	ZNF585B_ENST00000527838.1_Missense_Mutation_p.W102R|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.W47R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.W102T(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGGTCCCATAATTTCTCT	0.333000													14	71					0	0	0.001855	0	0
MYH7	4625	broad.mit.edu	37	14	23898510	23898510	+	Silent	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:23898510C>G	ENST00000355349.3	-	13	1347	c.1185G>C	c.(1183-1185)ctG>ctC	p.L395L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	395	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L395L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCCCTTGAGCAGGTCGGCTG	0.547000													20	71					0	0	0.008871	0	0
OR5I1	10798	broad.mit.edu	37	11	55703071	55703071	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:55703071G>A	ENST00000301532.3	-	1	805	c.806C>T	c.(805-807)tCt>tTt	p.S269F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S269F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGTGTTTGGAGAATACAGGTA	0.408000													7	35					0	0	0.003080	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													4	53					0	0	0.001984	0	0
FSHR	2492	broad.mit.edu	37	2	49195971	49195971	+	Silent	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:49195971A>G	ENST00000406846.2	-	9	839	c.720T>C	c.(718-720)aaT>aaC	p.N240N	FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Silent_p.N214N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	240					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.N240N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GCTTCTTAAGATTTTCTAAGC	0.428000									Gonadal Dysgenesis, 46 XX				3	52					0	0	0.009096	0	0
ZNF560	147741	broad.mit.edu	37	19	9577253	9577253	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:9577253G>T	ENST00000301480.4	-	10	2583	c.2370C>A	c.(2368-2370)caC>caA	p.H790Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	790					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H790Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTTCTCTCTAGTGTGTTTTCA	0.398000													16	60					1.33834e-09	2.01638e-09	0.007413	1	0
TRAV8-1	28685	broad.mit.edu	37	14	22265631	22265631	+	RNA	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:22265631C>T	ENST00000390430.2	+	0	173																											ATGATTTTTGCCCTGAGTGAG	0.443000													3	35					0	0	0.009096	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169207	32169207	+	Missense_Mutation	SNP	C	C	G	rs139568674		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:32169207C>G	ENST00000375023.3	-	22	3964	c.3826G>C	c.(3826-3828)Gag>Cag	p.E1276Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1276					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.E1276Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGCCACACTCTGCAGTGTTG	0.617000													5	60					0	0	0.000602	0	0
OR14K1	343170	broad.mit.edu	37	1	247902751	247902751	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:247902751G>C	ENST00000283225.2	+	1	835	c.835G>C	c.(835-837)Gca>Cca	p.A279P	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.A279P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CTATTCTGTCGCACCTCCAAC	0.438000													15	56					0	0	0.003163	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904874	144904874	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:144904874C>G	ENST00000370490.1	+	1	5186	c.931C>G	c.(931-933)Cca>Gca	p.P311A	SLITRK2_ENST00000413937.2_Missense_Mutation_p.P311A|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P311A|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P311A|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P311A			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	311						integral to membrane		p.P311A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAATCGTCCAACTCCTCG	0.552000													5	78					0	0	0.000602	0	0
ANKFN1	162282	broad.mit.edu	37	17	54431318	54431318	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:54431318G>T	ENST00000566473.2	+	5	521	c.521G>T	c.(520-522)gGc>gTc	p.G174V	ANKFN1_ENST00000318698.2_Missense_Mutation_p.G174V			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	174								p.G174V(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AACAGCGAGGGCTTGACACCC	0.502000													13	48					7.05477e-17	1.16825e-16	0.004990	1	0
MYH7	4625	broad.mit.edu	37	14	23894495	23894495	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:23894495G>T	ENST00000355349.3	-	21	2581	c.2419C>A	c.(2419-2421)Cgt>Agt	p.R807S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	807	IQ.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R807S(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCACCTACGTTCCAGCAGC	0.552000													11	36					0.00010058	0.000121037	0.001368	1	0
PSG8	440533	broad.mit.edu	37	19	43268239	43268239	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:43268239G>T	ENST00000404209.4	-	2	355	c.259C>A	c.(259-261)Caa>Aaa	p.Q87K	PSG8_ENST00000401467.2_Missense_Mutation_p.Q87K|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.Q87K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	87	Ig-like V-type.					extracellular region		p.Q87K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATAATTATTTGACCGTCTACT	0.433000													70	282					2.60599e-31	4.64014e-31	0.003610	1	0
RFC2	5982	broad.mit.edu	37	7	73668693	73668693	+	Silent	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:73668693A>G	ENST00000055077.3	-	1	81	c.21T>C	c.(19-21)tgT>tgC	p.C7C	RFC2_ENST00000352131.3_Silent_p.C7C	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	7					cell cycle checkpoint|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	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.C7C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CCGCGCCACCACAGACGGCCT	0.736000													3	8					0	0	0.004672	0	0
GREM2	64388	broad.mit.edu	37	1	240656352	240656352	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:240656352G>T	ENST00000318160.4	-	2	690	c.424C>A	c.(424-426)Cca>Aca	p.P142T		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	142	CTCK.				BMP signaling pathway	extracellular space	cytokine activity	p.P142T(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CGGAAGGGTGGGTCCAGGCCG	0.642000													23	81					1.33986e-20	2.32735e-20	0.004656	1	0
SLC18A3	6572	broad.mit.edu	37	10	50820036	50820036	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr10:50820036A>T	ENST00000374115.3	+	1	1690	c.1250A>T	c.(1249-1251)tAt>tTt	p.Y417F	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	417					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.Y417F(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GTCTCAGTCTATGGCAGCGTC	0.612000													3	21					0	0	0.004672	0	0
OR9G1	390174	broad.mit.edu	37	11	56468089	56468089	+	Missense_Mutation	SNP	T	T	A	rs62619921		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:56468089T>A	ENST00000312153.1	+	1	226	c.226T>A	c.(226-228)Tac>Aac	p.Y76N		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.Y76N(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TTCTTCTGTCTACACCCCAAA	0.478000													14	81					0	0	0.003163	0	0
POM121L12	285877	broad.mit.edu	37	7	53104146	53104146	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:53104146C>A	ENST00000408890.4	+	1	798	c.782C>A	c.(781-783)cCa>cAa	p.P261Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	261								p.P261Q(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGCCCGCCCCATCCGCCATC	0.652000													9	47					5.16669e-11	7.97467e-11	0.010729	1	0
SPEF2	79925	broad.mit.edu	37	5	35776410	35776410	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:35776410T>A	ENST00000440995.2	+	29	4115	c.4115T>A	c.(4114-4116)cTt>cAt	p.L1372H	SPEF2_ENST00000356031.3_Missense_Mutation_p.L1377H|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1377					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.L1377H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATTGGCTCTTCTTGAAGAT	0.348000													5	138					0	0	0.001168	0	0
USP1	7398	broad.mit.edu	37	1	62915921	62915921	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:62915921G>A	ENST00000339950.4	+	9	2442	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	USP1_ENST00000371146.1_Missense_Mutation_p.D543N	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	543					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D543N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CCAAAGGTTTGATTGTTATGG	0.363000													7	109					0	0	0.004482	0	0
SLC52A3	113278	broad.mit.edu	37	20	744476	744476	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:744476A>T	ENST00000381944.3	-	3	980	c.739T>A	c.(739-741)Tgc>Agc	p.C247S	SLC52A3_ENST00000217254.7_Missense_Mutation_p.C247S|SLC52A3_ENST00000473664.1_Intron			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	247					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	p.C247S(1)									GCCTCCCAGCACCTGGGTTGA	0.617000													10	52					0	0	0.008291	0	0
MMP16	4325	broad.mit.edu	37	8	89086833	89086833	+	Splice_Site	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:89086833C>G	ENST00000286614.6	-	7	1503	c.1222_splice	c.e7+1	p.G408_splice	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	408	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.G408R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ACATCCTTACCTTTAAAGAAC	0.388000													6	73					0	0	0.001984	0	0
TPTE2	93492	broad.mit.edu	37	13	20024286	20024286	+	Silent	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:20024286G>C	ENST00000400230.2	-	13	947	c.903C>G	c.(901-903)acC>acG	p.T301T	TPTE2_ENST00000400103.2_Silent_p.T190T|TPTE2_ENST00000382978.1_Silent_p.T261T|TPTE2_ENST00000390680.2_Silent_p.T224T|TPTE2_ENST00000382977.4_Silent_p.T301T|TPTE2_ENST00000255310.6_Silent_p.T224T|TPTE2_ENST00000382975.4_Silent_p.T261T|TPTE2_ENST00000457266.2_Silent_p.T190T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	301	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T301T(1)|p.T224T(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTACTTCCTTGGTGAAAACCA	0.333000													11	87					0	0	0.001855	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069321	114069321	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:114069321T>A	ENST00000462705.1	-	11	2206	c.1385A>T	c.(1384-1386)cAg>cTg	p.Q462L	ZBTB20_ENST00000464560.1_Missense_Mutation_p.Q462L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.Q535L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.Q462L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.Q462L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Q462L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Q462L	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q462L(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGGGTCTGCTGGCCTGCCAG	0.652000													16	69					0	0	0.004007	0	0
ZNF451	26036	broad.mit.edu	37	6	56999642	56999642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:56999642C>T	ENST00000370706.4	+	7	920	c.676C>T	c.(676-678)Caa>Taa	p.Q226*	ZNF451_ENST00000357489.3_Nonsense_Mutation_p.Q226*|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.Q226*|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q226*(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TACTCAACAACAATATAGAGA	0.343000													8	70					0	0	0.003080	0	0
ITPR2	3709	broad.mit.edu	37	12	26493144	26493144	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:26493144G>C	ENST00000381340.3	-	56	8391	c.7975C>G	c.(7975-7977)Ctg>Gtg	p.L2659V	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2659					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.L2659V(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGTTTGACCAGACTCATGGTC	0.547000													11	90					0	0	0.001855	0	0
MED13L	23389	broad.mit.edu	37	12	116410034	116410034	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:116410034A>T	ENST00000281928.3	-	26	5945	c.5739T>A	c.(5737-5739)agT>agA	p.S1913R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1913					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.S1913R(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAAGGAGGATACTCCAATCTG	0.418000													10	73					0	0	0.008291	0	0
OR10G4	390264	broad.mit.edu	37	11	123886884	123886884	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:123886884C>T	ENST00000320891.4	+	1	603	c.603C>T	c.(601-603)gaC>gaT	p.D201D		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D201D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTTTGTGGACATTGGGATAG	0.562000													16	98					0	0	0.002836	0	0
THSD7B	80731	broad.mit.edu	37	2	137814464	137814464	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:137814464C>T	ENST00000409968.1	+	3	792	c.614C>T	c.(613-615)gCg>gTg	p.A205V	THSD7B_ENST00000413152.2_Missense_Mutation_p.A174V|THSD7B_ENST00000272643.3_Missense_Mutation_p.A205V|THSD7B_ENST00000543459.1_Missense_Mutation_p.A64V					thrombospondin, type I, domain containing 7B									p.A174V(1)|p.A205V(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGAACTCGCGCGGTCATAGCT	0.502000													50	205					0	0	0.003610	0	0
UBR1	197131	broad.mit.edu	37	15	43281045	43281045	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr15:43281045G>A	ENST00000290650.4	-	35	4047	c.3969C>T	c.(3967-3969)agC>agT	p.S1323S	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1323					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.S1323S(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAGCGCAGGTGCTCCAGGTCA	0.403000													6	163					0	0	0.001168	0	0
RANBP2	5903	broad.mit.edu	37	2	109380702	109380702	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:109380702G>T	ENST00000283195.6	+	20	3833	c.3707G>T	c.(3706-3708)cGa>cTa	p.R1236L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1236	RanBD1 1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.R1236L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTAATGAGACGAGAGCAAGTA	0.383000													7	92					2.0095e-06	2.71761e-06	0.001984	1	0
TTC23	64927	broad.mit.edu	37	15	99678233	99678233	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr15:99678233G>A	ENST00000394132.2	-	14	2143	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	TTC23_ENST00000558613.1_Silent_p.P442P|TTC23_ENST00000394135.3_Silent_p.P442P|TTC23_ENST00000262074.4_Silent_p.P442P|TTC23_ENST00000558663.1_Silent_p.P442P|TTC23_ENST00000394136.1_Silent_p.P442P			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	442							binding	p.P442P(1)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CTGTTGTGCCGGGCCGGGCCT	0.587000													3	41					0	0	0.000602	0	0
NALCN	259232	broad.mit.edu	37	13	101756709	101756709	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:101756709T>A	ENST00000251127.6	-	25	2907	c.2826A>T	c.(2824-2826)ttA>ttT	p.L942F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	942						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.L942F(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGTGAAAAATAAGCCATCTG	0.363000													9	66					0	0	0.006214	0	0
PCSK5	5125	broad.mit.edu	37	9	78789943	78789943	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:78789943G>T	ENST00000545128.1	+	14	2336	c.1798G>T	c.(1798-1800)Gtg>Ttg	p.V600L	PCSK5_ENST00000376767.3_Missense_Mutation_p.V600L|PCSK5_ENST00000376752.4_Missense_Mutation_p.V600L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	600	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.V600L(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGGCACCTCCGTGCAGCCATA	0.443000													9	73					0.000978159	0.0011179	0.010729	1	0
LTBP2	4053	broad.mit.edu	37	14	74967652	74967652	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr14:74967652G>T	ENST00000261978.4	-	36	5787	c.5401C>A	c.(5401-5403)Cgc>Agc	p.R1801S	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1757S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1801	EGF-like 20; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.R1801S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGTGGCAGCGGTAGGAGCCC	0.567000													9	39					7.48243e-07	1.03407e-06	0.006214	1	0
SCCPDH	51097	broad.mit.edu	37	1	246927551	246927551	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:246927551G>A	ENST00000366510.3	+	10	1370	c.994G>A	c.(994-996)Gat>Aat	p.D332N		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	332						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	p.D332Y(1)|p.D332N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TTCACAGATTGATGCTGCCTC	0.403000													12	92					0	0	0.001368	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415909	5415909	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr18:5415909G>A	ENST00000341928.2	-	13	2315	c.1975C>T	c.(1975-1977)Cct>Tct	p.P659S	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P659S|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	659	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.P659S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGAGCCAGAGGGAAGGAGAGA	0.572000													19	51					0	0	0.006122	0	0
TGM6	343641	broad.mit.edu	37	20	2384386	2384386	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:2384386A>G	ENST00000202625.2	+	9	1314	c.1253A>G	c.(1252-1254)aAg>aGg	p.K418R	TGM6_ENST00000381423.1_Missense_Mutation_p.K418R	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	418					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.K418R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCAAACACGAAGAAGATTGGG	0.582000													17	80					0	0	0.004990	0	0
CNTN1	1272	broad.mit.edu	37	12	41337492	41337492	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:41337492G>T	ENST00000551295.2	+	13	1590	c.1473G>T	c.(1471-1473)ggG>ggT	p.G491G	CNTN1_ENST00000547702.1_Silent_p.G491G|CNTN1_ENST00000348761.2_Silent_p.G480G|CNTN1_ENST00000347616.1_Silent_p.G491G|CNTN1_ENST00000360099.3_Silent_p.G491G|CNTN1_ENST00000547849.1_Silent_p.G491G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	491	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.G491V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAACAGAGGGAAAGCTAATA	0.358000													5	62					3.59834e-05	4.51182e-05	0.001168	1	0
NID1	4811	broad.mit.edu	37	1	236201523	236201523	+	Missense_Mutation	SNP	G	G	A	rs142155830	byFrequency	TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:236201523G>A	ENST00000264187.6	-	5	1248	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	NID1_ENST00000366595.3_Missense_Mutation_p.T389M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	389	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding	p.T389M(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GTTAGCACACGTCTGGCGGGA	0.552000													5	109					0	0	0.000602	0	0
PAGE2	203569	broad.mit.edu	37	X	55116444	55116444	+	Splice_Site	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:55116444A>T	ENST00000374968.4	+	2	96		c.e2-1		PAGE2_ENST00000374965.1_Splice_Site	NM_207339.2	NP_997222.1			P antigen family, member 2 (prostate associated)											endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						TTCTGTTTGCAGTGGGAAATA	0.368000													3	46					0	0	0.004672	0	0
C6	729	broad.mit.edu	37	5	41186174	41186174	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:41186174C>G	ENST00000263413.3	-	6	988	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	C6_ENST00000337836.5_Missense_Mutation_p.E242Q|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	242	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E242Q(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTCATACCTCAAAGCCGACA	0.408000													8	62					0	0	0.006214	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718545	142718545	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chrX:142718545A>G	ENST00000381779.4	-	2	605	c.380T>C	c.(379-381)tTc>tCc	p.F127S	SLITRK4_ENST00000338017.4_Missense_Mutation_p.F127S|SLITRK4_ENST00000356928.1_Missense_Mutation_p.F127S	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	127						integral to membrane		p.F127S(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TATGCCAAGGAAAGTGTCAGC	0.418000													11	184					0	0	0.008291	0	0
NUDT15	55270	broad.mit.edu	37	13	48619794	48619794	+	Splice_Site	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr13:48619794A>T	ENST00000258662.2	+	3	535		c.e3-1			NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15								hydrolase activity|metal ion binding	p.?(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		TTTCTTTTCTAGGTTGGGAGT	0.353000													4	59					0	0	0.009096	0	0
VGLL3	389136	broad.mit.edu	37	3	87017813	87017813	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:87017813G>A	ENST00000398399.2	-	3	1227	c.864C>T	c.(862-864)acC>acT	p.T288T	VGLL3_ENST00000383698.3_Silent_p.T288T	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.T288T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGGTAGCAGAGGTGACTGTAG	0.522000													8	43					0	0	0.006214	0	0
OR4A47	403253	broad.mit.edu	37	11	48511136	48511136	+	Silent	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:48511136C>T	ENST00000446524.1	+	1	868	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P264P(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGACCTTCCCCATTGACAAAT	0.423000													13	407					0	0	0.002450	0	0
UBA6	55236	broad.mit.edu	37	4	68504691	68504691	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr4:68504691T>C	ENST00000322244.4	-	19	1765	c.1706A>G	c.(1705-1707)gAt>gGt	p.D569G		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	569					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.D569G(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTCCACATTATCTAATGCTGT	0.343000													6	97					0	0	0.001168	0	0
RELN	5649	broad.mit.edu	37	7	103163929	103163929	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:103163929G>T	ENST00000428762.1	-	47	7558	c.7399C>A	c.(7399-7401)Cag>Aag	p.Q2467K	RELN_ENST00000424685.2_Missense_Mutation_p.Q2467K|RELN_ENST00000343529.5_Missense_Mutation_p.Q2467K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2467					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.Q2467K(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATGTCTGCTGCTTGTCAAAA	0.468000													22	111					1.9806e-07	2.79151e-07	0.002299	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			22	32					0	0	0.002780	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617373	111617373	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:111617373C>A	ENST00000374667.3	-	1	1866	c.838G>T	c.(838-840)Gac>Tac	p.D280Y		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	280						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.D280Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGCTCGTAGTCCACGCGCAGC	0.627000													14	52					3.27435e-08	4.70844e-08	0.002450	1	0
CUX1	1523	broad.mit.edu	37	7	101845330	101845330	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:101845330C>T	ENST00000360264.3	+	18	2806	c.2786C>T	c.(2785-2787)cCc>cTc	p.P929L	CUX1_ENST00000556210.1_Missense_Mutation_p.P760L|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P816L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P862L|CUX1_ENST00000549414.2_Missense_Mutation_p.P896L|CUX1_ENST00000292535.7_Missense_Mutation_p.P918L|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	918					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P918L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCGATCGTGCCCATGTCCAAG	0.657000													9	62					0	0	0.010729	0	0
ZMYND8	23613	broad.mit.edu	37	20	45918993	45918993	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr20:45918993C>A	ENST00000311275.7	-	7	879	c.626G>T	c.(625-627)tGc>tTc	p.C209F	ZMYND8_ENST00000471951.2_Missense_Mutation_p.C229F|ZMYND8_ENST00000536340.1_Missense_Mutation_p.C236F|ZMYND8_ENST00000396281.4_Missense_Mutation_p.C209F|ZMYND8_ENST00000461685.1_Missense_Mutation_p.C229F|ZMYND8_ENST00000355972.4_Missense_Mutation_p.C209F|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000372023.3_Missense_Mutation_p.C204F|ZMYND8_ENST00000360911.3_Missense_Mutation_p.C204F|ZMYND8_ENST00000458360.2_Missense_Mutation_p.C204F|ZMYND8_ENST00000540497.1_Missense_Mutation_p.C204F|ZMYND8_ENST00000446994.2_Missense_Mutation_p.C146F|ZMYND8_ENST00000262975.4_Missense_Mutation_p.C209F|ZMYND8_ENST00000352431.2_Missense_Mutation_p.C229F			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	209	Bromo.						protein binding|zinc ion binding	p.C229F(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGCTTCTGTGCAGCCATACAT	0.453000													12	83					0.00010058	0.000121037	0.001368	1	0
GABRG2	2566	broad.mit.edu	37	5	161580234	161580234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:161580234G>T	ENST00000356592.3	+	10	1748	c.1288G>T	c.(1288-1290)Gaa>Taa	p.E430*	GABRG2_ENST00000393933.4_Nonsense_Mutation_p.E327*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.E422*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.E470*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	422	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.E430*(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTGCTGTTTTGAAGATTGTCG	0.468000													27	97					3.01185e-09	4.47835e-09	0.003954	1	0
GPR6	2830	broad.mit.edu	37	6	110300445	110300445	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:110300445C>A	ENST00000414000.2	+	3	414	c.175C>A	c.(175-177)Cta>Ata	p.L59I	GPR6_ENST00000275169.3_Missense_Mutation_p.L44I			P46095	GPR6_HUMAN	G protein-coupled receptor 6	44						integral to plasma membrane		p.L44I(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGCGGCGGCTCTAGGAGCCGG	0.726000													28	56					7.01153e-11	1.07637e-10	0.007291	1	0
FAM71B	153745	broad.mit.edu	37	5	156589905	156589905	+	Silent	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:156589905C>A	ENST00000302938.4	-	2	1466	c.1371G>T	c.(1369-1371)gcG>gcT	p.A457A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	457						nucleus		p.A457A(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTGTCCCCCGCTCTCCTGC	0.483000													30	148					2.08457e-15	3.39265e-15	0.010818	1	0
DAPK1	1612	broad.mit.edu	37	9	90312088	90312088	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:90312088G>T	ENST00000469640.2	+	22	2955	c.2580G>T	c.(2578-2580)ctG>ctT	p.L860L	DAPK1_ENST00000491893.1_Intron|DAPK1_ENST00000408954.3_Silent_p.L860L|DAPK1_ENST00000358077.5_Silent_p.L860L|DAPK1_ENST00000472284.1_Silent_p.L860L			P53355	DAPK1_HUMAN	death-associated protein kinase 1	860					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.L861L(1)|p.L860L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCAGTTTCCTGAAGTCCCTTG	0.502000									Chronic Lymphocytic Leukemia, Familial Clustering of				9	56					1.12685e-05	1.47818e-05	0.004482	1	0
GCNT2	2651	broad.mit.edu	37	6	10529565	10529565	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:10529565A>G	ENST00000379597.3	+	1	977	c.421A>G	c.(421-423)Aaa>Gaa	p.K141E	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.K141E|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	141						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.K141E(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGGTGCAGTGAAACAGTTACT	0.517000													13	100					0	0	0.002450	0	0
CD274	29126	broad.mit.edu	37	9	5466808	5466808	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:5466808A>T	ENST00000381577.3	+	6	915	c.829A>T	c.(829-831)Aca>Tca	p.T277S	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.T163S	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	277					cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity	p.T277S(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		CATCCAAGATACAAACTCAAA	0.348000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								10	73					0	0	0.010729	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139364	142139364	+	RNA	SNP	C	C	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:142139364C>G	ENST00000390374.3	-	0	305																											CCTCAGGCCTCTCTGCAGAGA	0.572000													19	70					0	0	0.012319	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762155	92762155	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:92762155G>T	ENST00000318238.4	-	5	4346	c.3130C>A	c.(3130-3132)Cgc>Agc	p.R1044S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R1044S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R1044S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1044								p.R1044S(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TACACCTTGCGCTGTCTTGTA	0.358000													15	109					1.49906e-05	1.93956e-05	0.002450	1	0
ZNF521	25925	broad.mit.edu	37	18	22805060	22805060	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr18:22805060G>T	ENST00000361524.3	-	4	2970	c.2822C>A	c.(2821-2823)tCc>tAc	p.S941Y	ZNF521_ENST00000584787.1_Missense_Mutation_p.S721Y|ZNF521_ENST00000538137.2_Missense_Mutation_p.S941Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	941					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.S941Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCCATTTTCGGAGAAGAAGGT	0.488000			T	PAX5	ALL								23	67					2.41591e-17	4.01239e-17	0.004656	1	0
COL15A1	1306	broad.mit.edu	37	9	101747956	101747956	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr9:101747956G>A	ENST00000375001.3	+	3	633	c.210G>A	c.(208-210)ggG>ggA	p.G70G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	70	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G70G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACAGTTTCGGGCCTGGTGCCA	0.632000													9	30					0	0	0.008291	0	0
KIF26B	55083	broad.mit.edu	37	1	245850143	245850143	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:245850143C>A	ENST00000366518.4	+	9	2819	c.2715C>A	c.(2713-2715)agC>agA	p.S905R	KIF26B_ENST00000407071.2_Missense_Mutation_p.S1286R			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1286					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S1286R(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCGAGATGAGCGCGGGCAGTG	0.602000													4	23					3.59834e-05	4.51182e-05	0.001168	1	0
INTS8	55656	broad.mit.edu	37	8	95877917	95877917	+	Splice_Site	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:95877917C>T	ENST00000523731.1	+	17	2393	c.2261_splice	c.e17+1	p.R754_splice	INTS8_ENST00000520845.1_Intron|INTS8_ENST00000447247.1_Splice_Site_p.R754_splice	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	754					snRNA processing	integrator complex	protein binding	p.R754W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TATCATGTATCGGTATGTATT	0.333000													12	284					0	0	0.002450	0	0
OR10H2	26538	broad.mit.edu	37	19	15838973	15838973	+	Silent	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr19:15838973G>T	ENST00000305899.3	+	1	140	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	40			L -> Q (in dbSNP:rs4569397).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L40L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCACGCTGCTGGGCAACCTGC	0.582000													6	120					0.00198382	0.0022313	0.001984	1	0
OR51F1	256892	broad.mit.edu	37	11	4790230	4790230	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:4790230G>A	ENST00000380383.1	-	1	938	c.939C>T	c.(937-939)ctC>ctT	p.L313L	OR51F1_ENST00000343430.3_Silent_p.L306L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	306						integral to membrane	olfactory receptor activity	p.L306L(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCAGCAGACTGAGCATAGCCT	0.418000													6	77					0	0	0.001168	0	0
LYST	1130	broad.mit.edu	37	1	235860531	235860531	+	Silent	SNP	G	G	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:235860531G>A	ENST00000389794.3	-	46	10590	c.10416C>T	c.(10414-10416)taC>taT	p.Y3472Y	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.Y3472Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3472					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.Y3472Y(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)			GGGAACCCACGTATTCCCCCC	0.463000													7	49					0	0	0.001984	0	0
SERPINE1	5054	broad.mit.edu	37	7	100777155	100777155	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:100777155C>T	ENST00000223095.4	+	5	1037	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R279C	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	294					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.R294C(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CAGGCTGCCCCGCCTCCTGGT	0.587000													3	37					0	0	0.009096	0	0
PAPOLG	64895	broad.mit.edu	37	2	60998766	60998766	+	Splice_Site	SNP	G	G	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:60998766G>T	ENST00000238714.3	+	7	853		c.e7+1			NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma						mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGCTTAAATGGTAAGCTTCTA	0.353000													19	70					6.33239e-15	1.02473e-14	0.010504	1	0
SLC26A7	115111	broad.mit.edu	37	8	92307866	92307866	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:92307866T>C	ENST00000276609.3	+	4	651	c.412T>C	c.(412-414)Tcc>Ccc	p.S138P	SLC26A7_ENST00000309536.2_Missense_Mutation_p.S138P|SLC26A7_ENST00000523719.1_Missense_Mutation_p.S138P	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	138						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.S138P(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCTGGGCTTATCCGACTTTGA	0.483000													9	85					0	0	0.008291	0	0
KEL	3792	broad.mit.edu	37	7	142651453	142651453	+	Missense_Mutation	SNP	G	G	A	rs61728832		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:142651453G>A	ENST00000355265.2	-	8	1216	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	248			R -> Q (in KEL25 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R248W(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGTATTCCCGAAAGATCTGG	0.527000													11	74					0	0	0.001855	0	0
SYCP1	6847	broad.mit.edu	37	1	115527385	115527386	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:115527385_115527386insA	ENST00000369522.3	+	30	2839_2840	c.2599_2600insA	c.(2599-2601)aagfs	p.K867fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K867fs|SYCP1_ENST00000477590.1_Intron	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	867					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAACTACAGCAAAGAGAAAAC	0.267													9	153	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152280635	152280635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:152280635delC	ENST00000368799.1	-	3	6762	c.6727delG	c.(6727-6729)ttfs	p.V2243fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2243	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGGCTAACACTGGATCCC	0.572									Ichthyosis				22	357	---	---	---	---					
FMO1	2326	broad.mit.edu	37	1	171250038	171250038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:171250038delC	ENST00000354841.4	+	5	872	c.741delC	c.(739-741)ctfs	p.L247fs	FMO1_ENST00000402921.2_Frame_Shift_Del_p.L184fs|FMO1_ENST00000367750.3_Frame_Shift_Del_p.L247fs|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	247					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAATTCCCTCCCAACCCCAA	0.468													16	126	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183511555	183511557	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr1:183511555_183511557delACA	ENST00000347615.2	+	14	1879_1881	c.1760_1762delACA	c.(1759-1764)gac>g	p.DN587del	SMG7_ENST00000515829.2_Intron|SMG7_ENST00000508461.1_In_Frame_Del_p.DN545del|SMG7_ENST00000456731.2_Intron|SMG7_ENST00000507469.1_Intron|SMG7_ENST00000367537.3_Intron	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	587					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GGAAAGAAGGACAACAACAAGAG	0.404													19	90	---	---	---	---					
REG3A	5068	broad.mit.edu	37	2	79385513	79385513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:79385513delA	ENST00000393878.1	-	3	526	c.272delT	c.(271-273)cgfs	p.L91fs	REG3A_ENST00000409839.3_Frame_Shift_Del_p.L91fs|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Frame_Shift_Del_p.L91fs	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	91	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCTCTTCACCAGGGAGGACAC	0.552													11	58	---	---	---	---					
FAM168B	130074	broad.mit.edu	37	2	131813266	131813266	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:131813266delA	ENST00000409185.1	-	4	264	c.157delT	c.(157-159)acfs	p.Y53fs	FAM168B_ENST00000389915.3_Frame_Shift_Del_p.Y53fs	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	53										endometrium(3)|lung(2)	5						CCAGGAGTGTAACCTGGAACA	0.622													10	28	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	140997093	140997094	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:140997093_140997094insA	ENST00000389484.3	-	88	14303_14304	c.13332_13333insT	c.(13330-13335)atccatfs	p.H4445fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4445					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAATGATGGCAATGCTTCCTG	0.317										TSP Lung(27;0.18)			13	46	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141806572	141806573	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:141806572_141806573delTC	ENST00000389484.3	-	11	2742_2743	c.1771_1772delGA	c.(1771-1773)afs	p.E591fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	591					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGATGGTTTCTCTCTCTGTG	0.436										TSP Lung(27;0.18)			14	151	---	---	---	---					
ZEB2	9839	broad.mit.edu	37	2	145156965	145156966	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:145156965_145156966insA	ENST00000558170.2	-	8	2972_2973	c.1788_1789insT	c.(1786-1791)ttatcafs	p.LS596fs	ZEB2_ENST00000409487.3_Frame_Shift_Ins_p.LS596fs|ZEB2_ENST00000303660.4_Frame_Shift_Ins_p.LS596fs|ZEB2_ENST00000539609.3_Frame_Shift_Ins_p.LS572fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	596						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCATGCTGATGCAAAGGGATGG	0.426													7	158	---	---	---	---					
GALNT13	114805	broad.mit.edu	37	2	154801049	154801049	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:154801049delT	ENST00000392825.3	+	3	606	c.39delT	c.(37-39)acfs	p.T13fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.T13fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	13						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTCTAGCCACTTCGCTGATGT	0.408													26	263	---	---	---	---					
CPS1	1373	broad.mit.edu	37	2	211466964	211466964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr2:211466964delC	ENST00000233072.5	+	16	1942	c.1746delC	c.(1744-1746)tafs	p.Y582fs	CPS1_ENST00000451903.2_Frame_Shift_Del_p.Y131fs|CPS1_ENST00000430249.2_Frame_Shift_Del_p.Y588fs	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	582	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCATTGGCTACCCAGTGATGA	0.488													9	77	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47164413	47164414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr3:47164413_47164414insC	ENST00000409792.3	-	3	1754_1755	c.1712_1713insG	c.(1711-1713)atcfs	p.I571fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACAGAAAGAATTTTTAAATTT	0.327			"""N, F, S, Mis"""		clear cell renal carcinoma								21	153	---	---	---	---					
SGTB	54557	broad.mit.edu	37	5	65008852	65008852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr5:65008852delG	ENST00000381007.4	-	3	375	c.140delC	c.(139-141)cafs	p.P47fs		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	47							binding			large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TGTATCTTCTGGGCTGATCTT	0.299													22	153	---	---	---	---					
KDM1B	221656	broad.mit.edu	37	6	18222173	18222173	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:18222173delG	ENST00000388870.2	+	22	2663	c.2422delG	c.(2422-2424)ggfs	p.G808fs	KDM1B_ENST00000546309.2_Frame_Shift_Del_p.G98fs|KDM1B_ENST00000297792.5_Frame_Shift_Del_p.G575fs|KDM1B_ENST00000397244.1_Frame_Shift_Del_p.G576fs			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	807					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AACTGTTACAGGGGCATATTT	0.393													28	218	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													4	8	---	---	---	---					
HIP1	3092	broad.mit.edu	37	7	75228558	75228559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:75228558_75228559insT	ENST00000336926.6	-	2	153_154	c.127_128insA	c.(127-129)catfs	p.H43fs	HIP1_ENST00000434438.2_Frame_Shift_Ins_p.H43fs	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	43	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTATTGATGCTGACAGTCTGA	0.505			T	PDGFRB	CMML								7	141	---	---	---	---					
SAMD9	54809	broad.mit.edu	37	7	92731758	92731759	+	Frame_Shift_Ins	INS	-	-	G			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:92731758_92731759insG	ENST00000379958.2	-	3	3921_3922	c.3652_3653insC	c.(3652-3654)taafs	p.*1218fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1218						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTTTTATTATCAAAAAAAGGA	0.337													16	138	---	---	---	---					
NUB1	51667	broad.mit.edu	37	7	151064199	151064199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr7:151064199delG	ENST00000568733.1	+	9	1113	c.1047delG	c.(1045-1047)ctfs	p.L349fs	NUB1_ENST00000413040.2_Frame_Shift_Del_p.L349fs|NUB1_ENST00000355851.4_Frame_Shift_Del_p.L325fs|NUB1_ENST00000566856.1_Frame_Shift_Del_p.L325fs			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	325					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATCAGAGACTGGTCCACATAA	0.378													7	74	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110445422	110445424	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr8:110445422_110445424delGTT	ENST00000378402.5	+	28	3421_3423	c.3317_3319delGTT	c.(3316-3321)ggt>g	p.GC1106del		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1106	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGACCAGTAGGTTGTTCTCTTCT	0.369										HNSCC(38;0.096)			22	417	---	---	---	---					
NELL1	4745	broad.mit.edu	37	11	21594744	21594745	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr11:21594744_21594745insT	ENST00000298925.5	+	20	2408_2409	c.2255_2256insT	c.(2254-2256)gtgfs	p.V752fs	NELL1_ENST00000325319.5_Frame_Shift_Ins_p.V667fs|NELL1_ENST00000532434.1_Frame_Shift_Ins_p.V677fs|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Frame_Shift_Ins_p.V724fs			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	724	VWFC 5.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGAGAGGTAGATTGCTGGCCAC	0.450													13	68	---	---	---	---					
FGD4	121512	broad.mit.edu	37	12	32735271	32735271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:32735271delG	ENST00000427716.2	+	4	894	c.470delG	c.(469-471)agfs	p.R157fs	FGD4_ENST00000525053.1_Frame_Shift_Del_p.R269fs|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000472289.1_Frame_Shift_Del_p.R157fs|FGD4_ENST00000531134.1_Frame_Shift_Del_p.R242fs|FGD4_ENST00000534526.2_Frame_Shift_Del_p.R294fs|FGD4_ENST00000546442.1_Frame_Shift_Del_p.R64fs	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	157					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGTAGCTACAGGACTCCAGGC	0.507													49	92	---	---	---	---					
MAP3K12	7786	broad.mit.edu	37	12	53877180	53877180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:53877180delA	ENST00000267079.2	-	11	1692	c.1467delT	c.(1465-1467)ctfs	p.L489fs	MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.L522fs|MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.L522fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	489					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCTTCTTGATAAGCTTCTCCA	0.532													23	153	---	---	---	---					
MON2	23041	broad.mit.edu	37	12	62954583	62954583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr12:62954583delG	ENST00000393630.3	+	27	4116	c.3725delG	c.(3724-3726)tgfs	p.W1242fs	MON2_ENST00000393632.2_Frame_Shift_Del_p.W1241fs|MON2_ENST00000393629.2_Frame_Shift_Del_p.W1241fs|MON2_ENST00000280379.6_Frame_Shift_Del_p.W1242fs|MON2_ENST00000552738.1_Frame_Shift_Del_p.W1218fs|MON2_ENST00000546600.1_Frame_Shift_Del_p.W1241fs	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1242					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AATCTATGGTGGGCTGCGTGG	0.383													14	94	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579471	7579471	+	Frame_Shift_Del	DEL	G	G	-	rs56275308		TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:7579471delG	ENST00000420246.2	-	4	348	c.216delC	c.(214-216)ccfs	p.P72fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.P72fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P72fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	72	Interaction with HRMT1L2.|Interaction with WWOX.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(11)|p.0?(8)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGCCACGGGGGGAGCAG	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	138	---	---	---	---					
DDX5	1655	broad.mit.edu	37	17	62499955	62499958	+	Frame_Shift_Del	DEL	TGAT	TGAT	-			TCGA-50-5941-01A-11D-1753-08	TCGA-50-5941-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ef12c0-d5fc-4852-9960-593366e717b4	9054c3ce-7029-46bc-933e-18046c1bba73	g.chr17:62499955_62499958delTGAT	ENST00000225792.5	-	5	871_874	c.470_473delATCA	c.(469-474)atfs	p.NH157fs	DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Frame_Shift_Del_p.NH157fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	157	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GAATGGCTGATGATTGATGTGGAC	0.328			T	ETV4	prostate								16	118	---	---	---	---					
