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
RSBN1L	222194	broad.mit.edu	37	7	77408178	77408178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:77408178C>G	ENST00000334955.8	+	8	2261	c.2234C>G	c.(2233-2235)tCt>tGt	p.S745C	RSBN1L_ENST00000445288.1_Missense_Mutation_p.S475C	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like							nucleus		p.S745C(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAACTTCATTCTAAATATGAA	0.363000													35	85					0	0	0.050027	0	0
CDYL2	124359	broad.mit.edu	37	16	80666970	80666970	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:80666970G>T	ENST00000570137.2	-	3	935	c.780C>A	c.(778-780)ttC>ttA	p.F260L	CDYL2_ENST00000566173.1_Missense_Mutation_p.F261L|CDYL2_ENST00000562812.1_Missense_Mutation_p.F261L|CDYL2_ENST00000563890.1_Missense_Mutation_p.F261L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding	p.F260L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGATGTGCGTGAACCCTTCTT	0.552000													31	85					5.45727e-16	5.97793e-16	0.134883	1	0
TTN	7273	broad.mit.edu	37	2	179604510	179604510	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179604510C>T	ENST00000589042.1	-	48	13674	c.13450G>A	c.(13450-13452)Gaa>Aaa	p.E4484K	TTN_ENST00000591111.1_Missense_Mutation_p.E4167K|TTN_ENST00000359218.5_Missense_Mutation_p.E4246K|TTN_ENST00000460472.2_Missense_Mutation_p.E4121K|TTN_ENST00000342175.6_Missense_Mutation_p.E4313K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4167	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4246K(1)		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)			ATGTCTATTTCCTCATATATA	0.378000													62	282					0	0	0.139131	0	0
FGF3	2248	broad.mit.edu	37	11	69625371	69625371	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:69625371G>C	ENST00000334134.2	-	3	512	c.422C>G	c.(421-423)cCt>cGt	p.P141R		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	141					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.P141R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GCGGGCCCCAGGCGTACTAGA	0.657000													14	9					0	0	0.105934	0	0
MTHFR	4524	broad.mit.edu	37	1	11861287	11861287	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:11861287C>T	ENST00000376592.1	-	2	534	c.406G>A	c.(406-408)Gag>Aag	p.E136K	MTHFR_ENST00000376590.3_Missense_Mutation_p.E136K|MTHFR_ENST00000376583.3_Missense_Mutation_p.E177K|MTHFR_ENST00000376585.1_Missense_Mutation_p.E177K			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	136					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	p.E136K(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GTGATCTCCTCCAGGCGCTGA	0.612000													17	96					0	0	0.049695	0	0
SHPK	23729	broad.mit.edu	37	17	3494637	3494637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:3494637G>A	ENST00000572705.1	-	4	569	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	TRPV1_ENST00000399759.3_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000174621.6_Silent_p.P73P|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000571088.1_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.Q99*	NM_080704.3	NP_542435.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	0					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	p.Q99*(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		ACAGAGTCCTGGGACAGCAGC	0.582000													10	12					0	0	0.058154	0	0
TMEM79	84283	broad.mit.edu	37	1	156261349	156261349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:156261349C>T	ENST00000405535.2	+	4	1316	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	TMEM79_ENST00000295694.5_Missense_Mutation_p.A382V|TMEM79_ENST00000357501.2_Silent_p.R143R|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	382						integral to membrane		p.A382V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CCGGACCACGCCCGCTCGGCC	0.657000													7	37					0	0	0.043863	0	0
NAV2	89797	broad.mit.edu	37	11	19955347	19955347	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:19955347G>A	ENST00000396085.1	+	7	1918	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	NAV2_ENST00000360655.4_Silent_p.E455E|NAV2_ENST00000396087.3_Silent_p.E542E|NAV2_ENST00000527559.2_Silent_p.E471E|NAV2_ENST00000349880.4_Silent_p.E519E|NAV2_ENST00000540292.1_Silent_p.E473E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	542						nucleus	ATP binding|helicase activity	p.E542E(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCAAGGAGGAGCCAAAAGAAG	0.537000													23	32					0	0	0.076483	0	0
UNC5D	137970	broad.mit.edu	37	8	35406937	35406937	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:35406937G>A	ENST00000287272.2	+	2	251	c.231G>A	c.(229-231)gcG>gcA	p.A77A	UNC5D_ENST00000404895.2_Silent_p.A77A|UNC5D_ENST00000420357.1_Silent_p.A77A|UNC5D_ENST00000453357.2_Silent_p.A72A|UNC5D_ENST00000416672.1_Silent_p.A77A			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	77	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity	p.A72A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGTGCAAAGCGAGGCCAGCCA	0.512000													12	39					0	0	0.080935	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137616	32137616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:32137616G>A	ENST00000312561.4	+	4	4141	c.3727G>A	c.(3727-3729)Gat>Aat	p.D1243N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551									p.D1243N(1)									GACTCCTCCAGATGGGAAAAG	0.368000													25	57					0	0	0.083992	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512369	68512369	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:68512369G>A	ENST00000370981.1	-	4	1248	c.612C>T	c.(610-612)acC>acT	p.T204T	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.T204T			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	204					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.T204T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCTGGAGGCCGGTGGTGGGCT	0.527000													51	120					0	0	0.139131	0	0
MYO1H	283446	broad.mit.edu	37	12	109876422	109876422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:109876422G>A	ENST00000310903.5	+	23	2349	c.2243G>A	c.(2242-2244)aGa>aAa	p.R748K	MYO1H_ENST00000431443.2_Missense_Mutation_p.R758K			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity	p.R748K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CGGATTATCAGAAAGTAAGTT	0.502000													5	10					0	0	0.021553	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42978430	42978430	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:42978430G>C	ENST00000485511.1	+	14	1689	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E496Q|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E398Q|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E472Q	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	504					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.E504Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGAAAGGGAAGAGATGTGGCA	0.542000													22	38					0	0	0.069288	0	0
NBPF20	100288142	broad.mit.edu	37	1	148342528	148342528	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:148342528C>T	ENST00000369202.1	-	5	705	c.508G>A	c.(508-510)Gag>Aag	p.E170K	NBPF20_ENST00000414710.2_Missense_Mutation_p.E170K					neuroblastoma breakpoint family, member 20									p.E170K(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TCTTCATCCTCATCTTCGTCA	0.418000													24	417					0	0	0.059317	0	0
NDUFS1	4719	broad.mit.edu	37	2	207009718	207009718	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:207009718A>C	ENST00000233190.6	-	9	1036	c.770T>G	c.(769-771)gTt>gGt	p.V257G	NDUFS1_ENST00000423725.1_Missense_Mutation_p.V200G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.V257G|NDUFS1_ENST00000440274.1_Missense_Mutation_p.V221G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.V271G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.V141G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.V146G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.V257G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ATTACTTCCAACCGCATCCAT	0.393000													20	77					0	0	0.049695	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654758	31654758	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr21:31654758G>C	ENST00000340345.4	-	1	518	c.493C>G	c.(493-495)Cta>Gta	p.L165V		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	165						keratin filament	structural molecule activity	p.L165V(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CAGTGGTTTAGAGTTTGGAAA	0.443000													40	121					0	0	0.104719	0	0
P2RX4	5025	broad.mit.edu	37	12	121654786	121654786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:121654786G>C	ENST00000359949.7	+	2	263	c.163G>C	c.(163-165)Gaa>Caa	p.E55Q	P2RX4_ENST00000541532.1_Intron|P2RX4_ENST00000540930.1_Intron|P2RX4_ENST00000543171.1_Intron|P2RX4_ENST00000337233.4_Intron	NM_001256796.1	NP_001243725.1	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	45					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ggcagaagtggaaatggagtc	0.483000													8	12					0	0	0.038147	0	0
TP53	7157	broad.mit.edu	37	17	7578188	7578188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:7578188C>A	ENST00000420246.2	-	6	793	c.661G>T	c.(661-663)Gag>Tag	p.E221*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E221*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E221*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E221*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E221*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E221*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	221	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).		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.E221*(14)|p.?(11)|p.0?(8)|p.E221fs*4(3)|p.E128*(3)|p.E221K(2)|p.Y220_P223delYEPP(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.E221fs*26(1)|p.V218fs*26(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)		TCAGGCGGCTCATAGGGCACC	0.552000		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)			15	15					2.31682e-05	2.51124e-05	0.132662	1	0
CCDC147	159686	broad.mit.edu	37	10	106209909	106209909	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:106209909C>G	ENST00000369704.3	+	17	2591	c.2457C>G	c.(2455-2457)ctC>ctG	p.L819L		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	819								p.L819L(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)		CCAATGAGCTCCAGAATTTAA	0.328000													53	127					0	0	0.139131	0	0
ARNTL2	56938	broad.mit.edu	37	12	27573406	27573406	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:27573406G>T	ENST00000544915.1	+	16	1969	c.1750G>T	c.(1750-1752)Gaa>Taa	p.E584*	ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.E533*|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.E581*|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.E570*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.E604*|ARNTL2_ENST00000266503.5_Nonsense_Mutation_p.E618*	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	618					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E618*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GAATTACTTAGAAGCAGAGGG	0.448000													19	130					1.67942e-08	1.82673e-08	0.038395	1	0
EVL	51466	broad.mit.edu	37	14	100607527	100607527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:100607527G>A	ENST00000402714.2	+	12	1703	c.1099G>A	c.(1099-1101)Gct>Act	p.A367T	EVL_ENST00000392920.3_Missense_Mutation_p.A369T			Q9UI08	EVL_HUMAN	Enah/Vasp-like	367	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding	p.A369T(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GATGAAGCCTGCTGGGAGCGT	0.647000													7	38					0	0	0.029380	0	0
MARCH1	55016	broad.mit.edu	37	4	164534603	164534603	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:164534603C>G	ENST00000339875.5	-	1	83	c.54G>C	c.(52-54)aaG>aaC	p.K18N	MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000503008.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	0	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.K18N(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGTTGATATCTTGCTTTTTT	0.398000													23	90					0	0	0.083992	0	0
ATE1	11101	broad.mit.edu	37	10	123673374	123673374	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:123673374G>C	ENST00000369043.3	-	4	354	c.268C>G	c.(268-270)Cac>Gac	p.H90D	ATE1_ENST00000224652.6_Missense_Mutation_p.H90D|ATE1_ENST00000369040.3_5'UTR|ATE1_ENST00000540606.1_Missense_Mutation_p.H83D|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000543447.1_Intron	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	90					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	p.H90D(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				ACCTTCTTGTGAGATTTTGAA	0.363000													21	46					0	0	0.049695	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101434481	101434481	+	RNA	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:101434481C>T	ENST00000554693.2	+	0	135				SNORD114-11_ENST00000363738.1_RNA																							GTGTGTGAGTCATGCACAGTG	0.413000													8	18					0	0	0.069234	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254053	61254053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:61254053C>T	ENST00000338608.2	+	9	930	c.805C>T	c.(805-807)Cga>Tga	p.R269*	PPP1R32_ENST00000432063.2_Nonsense_Mutation_p.R249*	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	269								p.R269*(1)									AGCCTTCAGCCGAGGGAATGA	0.577000													4	14					0	0	0.014758	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185667	92185667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:92185667C>G	ENST00000212355.4	-	9	1661	c.1196G>C	c.(1195-1197)gGa>gCa	p.G399A	TGFBR3_ENST00000370399.2_Missense_Mutation_p.G398A|TGFBR3_ENST00000525962.1_Missense_Mutation_p.G399A	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	399					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.G399A(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGGAAGGCCTCCATTTTGGCC	0.582000													27	57					0	0	0.116897	0	0
GABRB2	2561	broad.mit.edu	37	5	160758051	160758051	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:160758051C>T	ENST00000274547.2	-	9	1133	c.916G>A	c.(916-918)Gac>Aac	p.D306N	GABRB2_ENST00000517547.1_Missense_Mutation_p.D146N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D243N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D306N|GABRB2_ENST00000520240.1_Missense_Mutation_p.D306N|GABRB2_ENST00000393959.1_Missense_Mutation_p.D306N	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	306					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.D306N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGTACATGTCAATGGCCTTC	0.483000													58	134					0	0	0.139131	0	0
SHANK2	22941	broad.mit.edu	37	11	70507825	70507825	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:70507825C>T	ENST00000449833.2	-	1	98	c.48G>A	c.(46-48)acG>acA	p.T16T	SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000409530.1_Silent_p.T15T|SHANK2_ENST00000449116.2_Silent_p.T16T|SHANK2_ENST00000409161.1_Silent_p.T15T|SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000357171.3_Silent_p.T16T	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.T16T(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TATTGTAGCCCGTCATCATCA	0.542000													28	96					0	0	0.134883	0	0
DNAH7	56171	broad.mit.edu	37	2	196636429	196636429	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:196636429C>T	ENST00000312428.6	-	61	11488	c.11388G>A	c.(11386-11388)ctG>ctA	p.L3796L	DNAH7_ENST00000409063.1_Silent_p.L279L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3796					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3796L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTATGGTCTTCAGTAACTTAT	0.383000													71	177					0	0	0.139131	0	0
DOK4	55715	broad.mit.edu	37	16	57508776	57508776	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:57508776G>A	ENST00000566936.1	-	5	825	c.528C>T	c.(526-528)ctC>ctT	p.L176L	DOK4_ENST00000340099.4_Silent_p.L176L|DOK4_ENST00000569548.1_Silent_p.L176L			Q8TEW6	DOK4_HUMAN	docking protein 4	176	IRS-type PTB.						insulin receptor binding	p.L176L(1)		kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GCCACGAGACGAGCTTCACAC	0.637000													11	30					0	0	0.080935	0	0
HEG1	57493	broad.mit.edu	37	3	124746337	124746337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:124746337G>A	ENST00000311127.4	-	3	692	c.625C>T	c.(625-627)Cac>Tac	p.H209Y		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	209						extracellular region|integral to membrane	calcium ion binding	p.H209Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GATGGCAGGTGAAGACTTTCT	0.453000													6	27					0	0	0.021553	0	0
MANBA	4126	broad.mit.edu	37	4	103595103	103595103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:103595103G>A	ENST00000226578.4	-	8	1184	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	MANBA_ENST00000505239.1_Missense_Mutation_p.S305L	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	362					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.S362L(1)|p.S362*(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTCCTGGAATGAATCTGCTGG	0.368000													36	104					0	0	0.074837	0	0
HTR7	3363	broad.mit.edu	37	10	92617282	92617282	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:92617282C>G	ENST00000371721.3	-	1	389	c.147G>C	c.(145-147)ctG>ctC	p.L49L	HTR7_ENST00000336152.3_Silent_p.L49L|HTR7_ENST00000277874.6_Silent_p.L49L|HTR7_ENST00000371719.2_Silent_p.L49L			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	49					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.L49L(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TCACCTCGCTCAGCAGGTGCG	0.701000													6	11					0	0	0.021553	0	0
BAG6	7917	broad.mit.edu	37	6	31617000	31617000	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:31617000G>A	ENST00000404765.2	-	4	688	c.399C>T	c.(397-399)gtC>gtT	p.V133V	BAG6_ENST00000362049.6_Silent_p.V133V|BAG6_ENST00000211379.5_Silent_p.V133V|BAG6_ENST00000439687.2_Silent_p.V133V|BAG6_ENST00000375976.4_Silent_p.V133V|BAG6_ENST00000375964.6_Silent_p.V133V			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	133					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.V133V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTCCAACCATGACATAGCTGT	0.552000													45	67					0	0	0.117977	0	0
LRP1	4035	broad.mit.edu	37	12	57595667	57595667	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:57595667G>C	ENST00000243077.3	+	67	11039	c.10573G>C	c.(10573-10575)Gat>Cat	p.D3525H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3525	LDL-receptor class A 25.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D3525Y(1)|p.D3525H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGATGGCTCGGATGAGCCCAA	0.632000													14	49					0	0	0.119110	0	0
COG2	22796	broad.mit.edu	37	1	230810788	230810788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:230810788C>T	ENST00000534989.1	+	9	1102	c.767C>T	c.(766-768)tCt>tTt	p.S256F	COG2_ENST00000366668.3_Missense_Mutation_p.S315F|COG2_ENST00000366669.4_Missense_Mutation_p.S315F|COG2_ENST00000535166.1_Missense_Mutation_p.S199F			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	315					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	p.S315F(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTGGTGAATTCTGTTTGGCCA	0.393000													43	134					0	0	0.111260	0	0
RAD52	5893	broad.mit.edu	37	12	1025522	1025522	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:1025522C>G	ENST00000536177.1	-	9	988	c.905G>C	c.(904-906)tGa>tCa	p.*302S	RAD52_ENST00000430095.2_Missense_Mutation_p.E285Q|RAD52_ENST00000358495.3_Missense_Mutation_p.E285Q|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.E208Q			P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	0					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	p.E285Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCACTCTTCTCAGCTGACGGC	0.647000								Homologous recombination					4	10					0	0	0.009096	0	0
LEF1	51176	broad.mit.edu	37	4	109004529	109004529	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:109004529G>A	ENST00000379951.2	-	5	1809	c.621C>T	c.(619-621)atC>atT	p.I207I	LEF1_ENST00000265165.1_Silent_p.I207I|LEF1_ENST00000438313.2_Silent_p.I207I|LEF1_ENST00000510624.1_Silent_p.I139I|LEF1_ENST00000512172.1_Silent_p.I139I	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	207	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.I207I(1)|p.I139I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GAGGTGGGGTGATCTGTCCAA	0.463000													18	39					0	0	0.043863	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65194411	65194411	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:65194411C>G	ENST00000247226.7	+	2	370	c.62C>G	c.(61-63)tCt>tGt	p.S21C	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S21C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	21	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.S21C(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCCTGACCTCTACCACCTCC	0.667000													3	10					0	0	0.014758	0	0
TTYH1	57348	broad.mit.edu	37	19	54932504	54932504	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:54932504C>G	ENST00000301194.4	+	3	481	c.359C>G	c.(358-360)tCc>tGc	p.S120C	TTYH1_ENST00000376530.3_Missense_Mutation_p.S120C|TTYH1_ENST00000391739.3_Missense_Mutation_p.S169C|TTYH1_ENST00000376531.3_Missense_Mutation_p.S120C			Q9H313	TTYH1_HUMAN	tweety family member 1	120					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	p.S120C(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GATGGGGTGTCCCAGCTCAGC	0.627000													10	60					0	0	0.058154	0	0
TNXB	7148	broad.mit.edu	37	6	32017875	32017875	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:32017875G>A	ENST00000375244.3	-	27	9540	c.9339C>T	c.(9337-9339)gtC>gtT	p.V3113V	TNXB_ENST00000375247.2_Silent_p.V3111V			P22105	TENX_HUMAN	tenascin XB	3158	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.V3113V(1)|p.V3178V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGAGATGGTGACCCCGTCCT	0.632000													15	14					0	0	0.033300	0	0
KIF27	55582	broad.mit.edu	37	9	86457231	86457231	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:86457231C>G	ENST00000297814.2	-	17	3785	c.3642G>C	c.(3640-3642)aaG>aaC	p.K1214N	KIF27_ENST00000334204.2_Missense_Mutation_p.K1117N|KIF27_ENST00000413982.1_Missense_Mutation_p.K1148N|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1214					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K1214N(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GGCTGGTTTTCTTATAGAAAT	0.368000													23	45					0	0	0.091800	0	0
KDM6A	7403	broad.mit.edu	37	X	44969327	44969327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:44969327G>T	ENST00000377967.4	+	28	4050	c.4009G>T	c.(4009-4011)Gag>Tag	p.E1337*	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1344*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E1258*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1292*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1337					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.E1337*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAACAGGTGGAGGTTTTTGA	0.348000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								8	71					0.00307968	0.00332648	0.038147	1	0
SRCRB4D	136853	broad.mit.edu	37	7	76033741	76033741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:76033741C>T	ENST00000275560.3	-	2	363	c.16G>A	c.(16-18)Gag>Aag	p.E6K	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	6						extracellular region|membrane	scavenger receptor activity	p.E6K(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ATTAGCATCTCTGCTTCCTTG	0.542000													10	71					0	0	0.058154	0	0
DDX23	9416	broad.mit.edu	37	12	49230568	49230568	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:49230568G>A	ENST00000308025.3	-	10	1099	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	340						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.L340L(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GAAGTTTGCGGAGTCTTGCCC	0.537000													110	285					0	0	0.139131	0	0
NEB	4703	broad.mit.edu	37	2	152349881	152349881	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:152349881C>T	ENST00000427231.2	-	176	24953	c.24751G>A	c.(24751-24753)Gaa>Aaa	p.E8251K	NEB_ENST00000172853.10_Missense_Mutation_p.E6395K|NEB_ENST00000604864.1_Missense_Mutation_p.E8251K|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.E8251K|NEB_ENST00000498015.2_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.E226K|NEB_ENST00000509223.2_Missense_Mutation_p.E164K|NEB_ENST00000409198.1_Missense_Mutation_p.E6395K|NEB_ENST00000397345.3_Missense_Mutation_p.E8251K	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6561					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.E6395*(1)|p.E6395K(1)|p.E8251K(1)|p.E8251*(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)		CTAATGTTTTCTTGGTTGCGC	0.383000													14	40					0	0	0.132662	0	0
TMEM99	147184	broad.mit.edu	37	17	38991464	38991464	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:38991464C>T	ENST00000301665.3	+	3	1000	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	232						integral to membrane		p.L232L(1)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGCAAAGCCTCATATTACTCT	0.418000													45	59					0	0	0.104719	0	0
ZNF205	7755	broad.mit.edu	37	16	3170223	3170223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:3170223G>A	ENST00000382192.3	+	7	1767	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R521Q|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R521Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AACCTGCACCGGCACGAGAAG	0.736000													9	22					0	0	0.047766	0	0
C5orf42	65250	broad.mit.edu	37	5	37185055	37185055	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:37185055T>A	ENST00000274258.7	-	25	4546	c.959A>T	c.(958-960)gAa>gTa	p.E320V	C5orf42_ENST00000508244.1_Missense_Mutation_p.E1439V|C5orf42_ENST00000425232.2_Missense_Mutation_p.E1439V			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1439								p.E320V(1)|p.E1439V(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGTTTCTCTTCTTCAATTGG	0.428000													43	101					0	0	0.117977	0	0
ASGR1	432	broad.mit.edu	37	17	7080605	7080605	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:7080605G>A	ENST00000269299.3	-	3	510	c.111C>T	c.(109-111)tcC>tcT	p.S37S	ASGR1_ENST00000574388.1_Intron|ASGR1_ENST00000380920.4_5'UTR|ASGR1_ENST00000572879.1_5'UTR	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	37					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	p.S37S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GGCGAGGTCCGGAGCAGAGAC	0.682000											OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	27					0	0	0.115264	0	0
URB2	9816	broad.mit.edu	37	1	229773838	229773838	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:229773838C>T	ENST00000258243.2	+	4	3614	c.3478C>T	c.(3478-3480)Cag>Tag	p.Q1160*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1160						nucleolus		p.Q1160*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGTTTACTCTCAGATACTGTT	0.552000													30	61					0	0	0.134883	0	0
APEX2	27301	broad.mit.edu	37	X	55033263	55033263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:55033263G>A	ENST00000374987.3	+	6	1018	c.952G>A	c.(952-954)Gca>Aca	p.A318T		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	318					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	p.A318T(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CTCTGTGCCTGCAAAACAGTG	0.567000								Other BER factors					13	24					0	0	0.105934	0	0
APBA2	321	broad.mit.edu	37	15	29393870	29393870	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:29393870G>A	ENST00000558402.1	+	11	2006	c.1407G>A	c.(1405-1407)ctG>ctA	p.L469L	APBA2_ENST00000411764.1_Silent_p.L457L|APBA2_ENST00000561069.1_Silent_p.L469L|APBA2_ENST00000558330.1_Silent_p.L457L|APBA2_ENST00000558259.1_Silent_p.L469L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	469	PID.				nervous system development|protein transport		protein binding	p.L469L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TTGTAGTGCTGATGGCCAGAC	0.592000													4	18					0	0	0.014758	0	0
LOXL3	84695	broad.mit.edu	37	2	74779555	74779555	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:74779555G>A	ENST00000264094.3	-	2	278	c.207C>T	c.(205-207)atC>atT	p.I69I	LOXL3_ENST00000409986.1_Silent_p.I69I|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409549.1_Silent_p.I69I|LOXL3_ENST00000409249.1_Silent_p.I69I|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000393937.2_Silent_p.I69I	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	69	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.I69I(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CATCATCGCAGATGGTGCCCC	0.652000													21	46					0	0	0.069288	0	0
TRIM32	22954	broad.mit.edu	37	9	119460323	119460323	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:119460323G>A	ENST00000450136.1	+	2	463	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R101Q	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	101					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R101Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCATGTGTCGGTCCTGTGGG	0.597000													25	78					0	0	0.134883	0	0
TMEM37	140738	broad.mit.edu	37	2	120194518	120194518	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:120194518C>T	ENST00000306406.4	+	2	110	c.75C>T	c.(73-75)ttC>ttT	p.F25F	TMEM37_ENST00000409826.1_Silent_p.F37F|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	25						integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.F25F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TTGAATCCTTCATCCGGACCC	0.617000													37	57					0	0	0.064281	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		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)			14	24					0	0	0.132662	0	0
CAD	790	broad.mit.edu	37	2	27460592	27460592	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:27460592G>A	ENST00000264705.4	+	29	4732	c.4570G>A	c.(4570-4572)Gag>Aag	p.E1524K	CAD_ENST00000403525.1_Missense_Mutation_p.E1461K	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1524	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.E1524K(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGCTGGCAGAGGCTGGCGC	0.647000													12	32					0	0	0.093190	0	0
HERC2P2	400322	broad.mit.edu	37	15	23313237	23313237	+	RNA	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:23313237G>A	ENST00000560464.1	-	0	3006																											GCGTGAGAGCGATGCTCTGCA	0.612000													4	10					0	0	0.021553	0	0
DGKB	1607	broad.mit.edu	37	7	14733765	14733765	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:14733765G>A	ENST00000403951.2	-	9	1065	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	DGKB_ENST00000402815.1_Silent_p.L216L|DGKB_ENST00000406247.3_Silent_p.L216L|DGKB_ENST00000407950.1_Silent_p.L209L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.L216L|DGKB_ENST00000444700.2_Silent_p.L209L|DGKB_ENST00000258767.5_Silent_p.L216L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	216	EF-hand 2.				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.L216L(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)	CATTCCTCCAGAGACACGGTT	0.443000													6	7					0	0	0.038147	0	0
NDST2	8509	broad.mit.edu	37	10	75568098	75568098	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:75568098G>A	ENST00000603027.1	-	3	672	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	NDST2_ENST00000309979.6_Missense_Mutation_p.H17Y|NDST2_ENST00000299641.4_Intron						17								p.H17Y(1)									ATGAGGCGGTGCAGTTCCAGC	0.622000													3	4					0	0	0.115264	0	0
ZNF493	284443	broad.mit.edu	37	19	21606279	21606279	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:21606279C>G	ENST00000392288.2	+	4	927	c.818C>G	c.(817-819)tCt>tGt	p.S273C	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.S145C	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S273C(1)|p.S145C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGGCACATCTTTCTACCAA	0.348000													31	106					0	0	0.144211	0	0
SNHG14	104472715	broad.mit.edu	37	15	25322274	25322274	+	RNA	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:25322274C>T	ENST00000549804.2	+	0	1243				SNORD116-12_ENST00000384468.1_RNA																							CCATCATCCTCATTGAACTGA	0.433000													18	72					0	0	0.033300	0	0
CCDC135	84229	broad.mit.edu	37	16	57757006	57757006	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:57757006G>A	ENST00000360716.3	+	12	1722	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N	CCDC135_ENST00000336825.8_Missense_Mutation_p.D436N|CCDC135_ENST00000394337.4_Missense_Mutation_p.D501N			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	501						cytoplasm		p.D501N(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCTGAAGACAGACTACTTCAA	0.577000													31	75					0	0	0.144211	0	0
COL6A3	1293	broad.mit.edu	37	2	238283544	238283544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:238283544G>A	ENST00000295550.4	-	8	3642	c.3190C>T	c.(3190-3192)Cgg>Tgg	p.R1064W	COL6A3_ENST00000392004.3_Missense_Mutation_p.R858W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R457W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R858W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R864W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R657W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R863W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R858W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1064	Nonhelical region.|VWFA 6.		R -> Q (in UCMD).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1064W(2)|p.R858W(1)		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)		ACGCGGACCCGGTCCTGGCCC	0.592000													13	31					0	0	0.105934	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213303065	213303065	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:213303065G>A	ENST00000366960.3	+	6	818	c.668G>A	c.(667-669)cGt>cAt	p.R223H	RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R211H|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R42H	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	223					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.R223fs*8(2)|p.R223H(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CGGGAAAGTCGTAGCCTCTTT	0.413000													30	74					0	0	0.045705	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764240	77764240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:77764240C>T	ENST00000521891.2	+	10	5531	c.5083C>T	c.(5083-5085)Cag>Tag	p.Q1695*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q1650*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q1669*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q1650*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1650	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q1695*(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)			AGCACAAATTCAGATGCAACT	0.428000										HNSCC(33;0.089)			23	61					0	0	0.069288	0	0
DSC1	1823	broad.mit.edu	37	18	28710778	28710778	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr18:28710778C>G	ENST00000257197.3	-	16	2772	c.2511G>C	c.(2509-2511)ctG>ctC	p.L837L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Intron	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	0					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.L837L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AATTTTTAATCAGAGTGTGTC	0.254000													25	69					0	0	0.083992	0	0
CDH4	1002	broad.mit.edu	37	20	60419818	60419818	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:60419818C>G	ENST00000360469.5	+	5	759	c.671C>G	c.(670-672)tCc>tGc	p.S224C	CDH4_ENST00000543233.1_Missense_Mutation_p.S150C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	224	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding	p.S224C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCATTGACTCCATGTCCGGC	0.617000													15	34					0	0	0.146539	0	0
IFT88	8100	broad.mit.edu	37	13	21157156	21157156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr13:21157156C>T	ENST00000382778.4	+	4	1296	c.178C>T	c.(178-180)Cca>Tca	p.P60S	IFT88_ENST00000351808.5_Missense_Mutation_p.P51S|IFT88_ENST00000537103.1_Missense_Mutation_p.P51S|IFT88_ENST00000319980.6_Missense_Mutation_p.P60S			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	60					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.P60S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAGAAGACCTCCAGTAAGTGA	0.318000													20	68					0	0	0.043863	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629585	155629585	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:155629585C>T	ENST00000368340.5	-	10	2578	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K	YY1AP1_ENST00000535662.1_Missense_Mutation_p.E552K|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E675K|YY1AP1_ENST00000295566.4_Missense_Mutation_p.E752K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E706K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E706K|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E706K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E686K|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E675K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E844K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E695K|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E695K	NM_001198904.1	NP_001185833.1			YY1 associated protein 1									p.E844K(1)|p.E752K(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTTCCCTCCTCTGTTTTCACA	0.537000													30	99					0	0	0.134883	0	0
ADCY2	108	broad.mit.edu	37	5	7817056	7817056	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:7817056C>T	ENST00000338316.4	+	23	3050	c.2961C>T	c.(2959-2961)atC>atT	p.I987I	ADCY2_ENST00000537121.1_Silent_p.I807I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	987					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.I987I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGGATGCCATCAACAAGCACT	0.502000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	52					0	0	0.132662	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37478443	37478443	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:37478443A>G	ENST00000374660.1	+	31	2758	c.2659A>G	c.(2659-2661)Acg>Gcg	p.T887A	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	943						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T768A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCAAGGCTACGCATCAAAA	0.289000													3	53					0	0	0.115264	0	0
PHACTR4	65979	broad.mit.edu	37	1	28786756	28786756	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:28786756G>C	ENST00000373839.3	+	4	485	c.224G>C	c.(223-225)aGa>aCa	p.R75T	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R85T	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	75							actin binding|protein phosphatase inhibitor activity	p.R85T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAAGCCAAGAGAAGAGCTG	0.388000													8	39					0	0	0.058154	0	0
RNPS1	10921	broad.mit.edu	37	16	2312402	2312402	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:2312402C>T	ENST00000565678.1	-	6	1098	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	RNPS1_ENST00000320225.5_Missense_Mutation_p.G185R|RNPS1_ENST00000301730.8_Missense_Mutation_p.G185R|RNPS1_ENST00000569598.2_Missense_Mutation_p.G91R|RNPS1_ENST00000397086.2_Missense_Mutation_p.G185R|RNPS1_ENST00000566397.1_Missense_Mutation_p.G8R|RNPS1_ENST00000566458.1_Missense_Mutation_p.G162R|RNPS1_ENST00000561718.1_Missense_Mutation_p.G8R|RNPS1_ENST00000567147.1_Missense_Mutation_p.G162R|RNPS1_ENST00000568631.1_Missense_Mutation_p.G185R			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	185	Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G185R(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TTAATTTTCCCATAGGTGGAA	0.488000													23	50					0	0	0.062417	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387619	50387619	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:50387619C>T	ENST00000221543.5	+	11	1535	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	TBC1D17_ENST00000535102.2_Silent_p.F379F	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	412	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.F412F(1)		NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGTATCACTTCGACCTCGGTG	0.662000													51	207					0	0	0.139131	0	0
SRBD1	55133	broad.mit.edu	37	2	45826690	45826690	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:45826690C>G	ENST00000263736.4	-	4	608	c.546G>C	c.(544-546)aaG>aaC	p.K182N		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	182					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	p.K182N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTTGATTTTCTTTAAAGCGG	0.443000													56	254					0	0	0.139131	0	0
HECTD4	283450	broad.mit.edu	37	12	112664513	112664513	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:112664513C>G	ENST00000550722.1	-	44	6861	c.6466G>C	c.(6466-6468)Gaa>Caa	p.E2156Q	HECTD4_ENST00000430131.2_Missense_Mutation_p.E1880Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.E2130Q	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.E1880Q(1)|p.E2130Q(1)									TGTATGAATTCTTCACAAAAT	0.398000													12	26					0	0	0.080935	0	0
ARID5B	84159	broad.mit.edu	37	10	63852251	63852251	+	Missense_Mutation	SNP	G	G	A	rs137983907		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:63852251G>A	ENST00000279873.7	+	10	3439	c.3029G>A	c.(3028-3030)cGg>cAg	p.R1010Q	ARID5B_ENST00000309334.5_Missense_Mutation_p.R767Q	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1010					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.R1010Q(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGGGCGGCGCGGCCGATCAAG	0.567000													23	77					0	0	0.116897	0	0
ACN9	57001	broad.mit.edu	37	7	96810512	96810512	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:96810512G>C	ENST00000432641.2	+	2	1497	c.363G>C	c.(361-363)atG>atC	p.M121I	ACN9_ENST00000360382.4_3'UTR|ACN9_ENST00000479853.1_3'UTR	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	121					regulation of gluconeogenesis	mitochondrial intermembrane space		p.M121I(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					CTGAGTCTATGAAACCAAAAT	0.318000													9	30					0	0	0.058154	0	0
NTSR2	23620	broad.mit.edu	37	2	11798719	11798719	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:11798719G>A	ENST00000306928.5	-	4	1153	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	373					sensory perception	integral to plasma membrane		p.V373V(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	ACAGGGAGCTGACGGCTTCCA	0.562000													21	66					0	0	0.083992	0	0
AHR	196	broad.mit.edu	37	7	17378911	17378911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:17378911G>T	ENST00000242057.4	+	10	2105	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	488					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.E488*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CTTTTTCAACGAATCTATGAA	0.398000													44	122					8.01111e-26	8.93325e-26	0.117977	1	0
INF2	64423	broad.mit.edu	37	14	105181636	105181636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:105181636C>T	ENST00000392634.4	+	22	3822	c.3710C>T	c.(3709-3711)tCt>tTt	p.S1237F	INF2_ENST00000330634.7_Intron	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1237					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	p.S1237F(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCCCTGATTCTGATGATAAT	0.557000													48	132					0	0	0.139131	0	0
USP13	8975	broad.mit.edu	37	3	179399668	179399668	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:179399668T>A	ENST00000263966.3	+	2	642	c.171T>A	c.(169-171)aaT>aaA	p.N57K	USP13_ENST00000496897.1_5'UTR|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	57					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.N57K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCTTCTAGAATTCTGAAGGTG	0.423000													73	205					0	0	0.139131	0	0
DDX18	8886	broad.mit.edu	37	2	118582552	118582552	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:118582552C>T	ENST00000263239.2	+	9	1371	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	415	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.L415L(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGATTCCTTCTGCTCTTTAC	0.368000													40	138					0	0	0.074837	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237769	23237769	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr22:23237769G>A	ENST00000532223.2	+	3	817	c.543G>A	c.(541-543)ctG>ctA	p.L181L	IGLL5_ENST00000526893.1_Silent_p.L180L|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5		C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region		p.L180L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GCAGCTACCTGAGCCTGACGC	0.602000													10	24					0	0	0.058154	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028353	59028353	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:59028353C>T	ENST00000594051.1	-	2	1168	c.688G>A	c.(688-690)Gag>Aag	p.E230K	ZBTB45_ENST00000354590.3_Missense_Mutation_p.E230K|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E230K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E230K(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCCTGGCCCTCGCCTGGGCCG	0.672000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	270					0	0	0.139131	0	0
GALNT6	11226	broad.mit.edu	37	12	51759233	51759233	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:51759233G>A	ENST00000543196.2	-	4	1000	c.795C>T	c.(793-795)ctC>ctT	p.L265L	GALNT6_ENST00000356317.3_Silent_p.L265L			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	265	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L265L(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCAGGAACGTGAGCACCTCCG	0.677000													13	29					0	0	0.105934	0	0
CLPB	81570	broad.mit.edu	37	11	72145375	72145375	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:72145375C>G	ENST00000294053.3	-	1	317	c.144G>C	c.(142-144)ctG>ctC	p.L48L	CLPB_ENST00000437826.2_5'UTR|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000340729.5_Silent_p.L48L|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000538039.1_Silent_p.L48L	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	48					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	p.L48L(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCTACCCTCAGCCACTGCG	0.692000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	9					0	0	0.132662	0	0
OR2T6	254879	broad.mit.edu	37	1	248551413	248551413	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:248551413C>G	ENST00000355728.2	+	1	504	c.504C>G	c.(502-504)ttC>ttG	p.F168L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168L(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)			GTCTCCCGTTCTGTGCCTCTC	0.532000													13	35					0	0	0.093190	0	0
ATP11A	23250	broad.mit.edu	37	13	113532599	113532599	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr13:113532599G>C	ENST00000487903.1	+	29	3484	c.3396G>C	c.(3394-3396)ctG>ctC	p.L1132L	ATP11A_ENST00000375630.2_Intron|ATP11A_ENST00000283558.8_Silent_p.L1132L|ATP11A_ENST00000375645.3_Silent_p.L1132L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1132					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L1132L(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCAGCAGCCTGAGTTTCTGAT	0.572000													17	47					0	0	0.038395	0	0
ESR2	2100	broad.mit.edu	37	14	64727309	64727309	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:64727309G>A	ENST00000557772.1	-	4	809	c.810C>T	c.(808-810)ctC>ctT	p.L270L	ESR2_ENST00000267525.6_Silent_p.L270L|ESR2_ENST00000353772.3_Silent_p.L270L|ESR2_ENST00000357782.2_Silent_p.L270L|ESR2_ENST00000358599.5_Silent_p.L270L|ESR2_ENST00000553796.1_Silent_p.L270L|ESR2_ENST00000341099.4_Silent_p.L270L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Silent_p.L270L|ESR2_ENST00000555278.1_Silent_p.L270L|ESR2_ENST00000542956.1_Silent_p.L270L	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	270	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.L270L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCAGGAGGGTGAGCACTAGCT	0.677000													21	30					0	0	0.055883	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933811	22933811	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:22933811C>T	ENST00000313077.7	+	8	855	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	CYFIP1_ENST00000560848.1_Silent_p.L244L	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	244					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	p.L244L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TATTGTGAATCTGTGTGTGGA	0.522000													33	148					0	0	0.069456	0	0
DYRK1A	1859	broad.mit.edu	37	21	38862650	38862650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr21:38862650G>C	ENST00000339659.4	+	6	2281	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	DYRK1A_ENST00000451934.1_Missense_Mutation_p.E280Q|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E52Q|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E280Q|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E280Q|DYRK1A_ENST00000338785.3_Missense_Mutation_p.E280Q|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E280Q	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.E280Q(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGCGACTCCAGAACTTAGTAT	0.428000													5	124					0	0	0.014758	0	0
KLK3	354	broad.mit.edu	37	19	51361378	51361378	+	Silent	SNP	C	C	G	rs2739452		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:51361378C>G	ENST00000360617.3	+	3	300	c.300C>G	c.(298-300)ctC>ctG	p.L100L	KLK3_ENST00000595952.1_Intron|KLK3_ENST00000326003.2_Silent_p.L100L|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000593997.1_Silent_p.L100L			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	100	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.L100L(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACACCCGCTCTACGATATGA	0.582000													6	46					0	0	0.021553	0	0
SOX7	83595	broad.mit.edu	37	8	10584142	10584142	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:10584142C>G	ENST00000304501.1	-	2	351	c.273G>C	c.(271-273)aaG>aaC	p.K91N	SOX7_ENST00000554914.1_Missense_Mutation_p.K143N|SOX7_ENST00000553390.1_Missense_Mutation_p.K143N	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	91					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.K91N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CGTACGGCCTCTTCTGGGACA	0.647000													6	16					0	0	0.047766	0	0
C20orf85	128602	broad.mit.edu	37	20	56728657	56728657	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:56728657G>A	ENST00000371168.3	+	2	187	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	42								p.G42G(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGAACTGGGGGTTTTTAACAA	0.428000													24	106					0	0	0.083992	0	0
FIBCD1	84929	broad.mit.edu	37	9	133780649	133780649	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:133780649G>C	ENST00000372338.4	-	6	1340	c.1098C>G	c.(1096-1098)ctC>ctG	p.L366L	FIBCD1_ENST00000372337.2_Silent_p.L208L|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.L366L	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	366	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	p.L366L(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGCCACGGTGAGCGGGTACC	0.657000													7	24					0	0	0.038147	0	0
NLRP9	338321	broad.mit.edu	37	19	56243927	56243927	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:56243927C>G	ENST00000332836.2	-	2	1297	c.1270G>C	c.(1270-1272)Gag>Cag	p.E424Q		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	424	NACHT.					cytoplasm	ATP binding	p.E424Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATCACGCCCTCAGACTCAGAT	0.483000													49	187					0	0	0.139131	0	0
LILRA3	11026	broad.mit.edu	37	19	54802062	54802062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:54802062G>A	ENST00000391745.1	-	10	1493	c.1177C>T	c.(1177-1179)Cat>Tat	p.H393Y	LILRA3_ENST00000391744.3_Missense_Mutation_p.H312Y|LILRA3_ENST00000251390.3_Missense_Mutation_p.H376Y					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3									p.H376Y(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTACTTATGAGATTGGCGC	0.577000													33	103					0	0	0.059317	0	0
ARFIP1	27236	broad.mit.edu	37	4	153791962	153791962	+	Missense_Mutation	SNP	G	G	A	rs142219628		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:153791962G>A	ENST00000451320.2	+	4	424	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000353617.2_Missense_Mutation_p.R87Q|ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000356064.3_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	87					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		p.R87Q(2)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GCAGCTAGTCGACTGGCTCAG	0.443000													19	66					0	0	0.049695	0	0
APOB	338	broad.mit.edu	37	2	21233133	21233133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:21233133C>G	ENST00000233242.1	-	26	6734	c.6607G>C	c.(6607-6609)Gat>Cat	p.D2203H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2203					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.D2203H(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)	ATGATTTCATCAATAATATTA	0.239000													24	56					0	0	0.076483	0	0
SETD2	29072	broad.mit.edu	37	3	47142947	47142947	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:47142947C>T	ENST00000409792.3	-	8	5058		c.e8+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.?(2)		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)		ACAATACTTACCCATATCTCT	0.358000			"""N, F, S, Mis"""		clear cell renal carcinoma								39	89					0	0	0.098360	0	0
C1orf168	199920	broad.mit.edu	37	1	57233561	57233561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:57233561G>A	ENST00000343433.6	-	5	1084	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	335								p.S335L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTCAGATATGAAATTGTTGC	0.353000													24	109					0	0	0.108266	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6087327	6087327	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:6087327C>G	ENST00000409021.3	-	4	1103	c.654G>C	c.(652-654)gtG>gtC	p.V218V	JAKMIP1_ENST00000409371.3_Silent_p.V53V|JAKMIP1_ENST00000410077.2_Silent_p.V53V|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Silent_p.V218V|JAKMIP1_ENST00000282924.5_Silent_p.V218V	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	218	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.V218V(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGCCAGAATCACACGGTCTT	0.522000													35	117					0	0	0.059317	0	0
TRAPPC6B	122553	broad.mit.edu	37	14	39627491	39627491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:39627491G>A	ENST00000330149.5	-	3	491	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	TRAPPC6B_ENST00000347691.5_Nonsense_Mutation_p.Q89*|TRAPPC6B_ENST00000557764.1_Intron	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	89					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	p.Q89*(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		TTAATTACCTGATGATTTGTC	0.274000													7	42					0	0	0.047766	0	0
UGGT2	55757	broad.mit.edu	37	13	96513055	96513055	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr13:96513055C>T	ENST00000376747.3	-	32	3797	c.3727G>A	c.(3727-3729)Gaa>Aaa	p.E1243K		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1243	Glucosyltransferase.				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.E1243K(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						AAAAAACGTTCATATAAATGA	0.254000													13	65					0	0	0.105934	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													4	22					0	0	0.009096	0	0
TBC1D5	9779	broad.mit.edu	37	3	17349598	17349598	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:17349598C>T	ENST00000253692.7	-	14	2688	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	TBC1D5_ENST00000446818.2_Missense_Mutation_p.E342K|TBC1D5_ENST00000429924.2_Missense_Mutation_p.E294K|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E342K	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	342	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity	p.E342K(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGGGGGAACTCTCGTCCAAAT	0.438000													11	14					0	0	0.119110	0	0
MTUS1	57509	broad.mit.edu	37	8	17612647	17612647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:17612647C>G	ENST00000381869.3	-	2	1143	c.670G>C	c.(670-672)Gat>Cat	p.D224H	MTUS1_ENST00000519263.1_Missense_Mutation_p.D224H|MTUS1_ENST00000262102.6_Missense_Mutation_p.D224H|MTUS1_ENST00000381862.3_Missense_Mutation_p.D224H	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	224						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		p.D224H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTTCTCTATCATAAGTAGTT	0.418000													25	150					0	0	0.083992	0	0
C14orf182	283551	broad.mit.edu	37	14	50472344	50472344	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:50472344G>C	ENST00000399206.1	-	1	1894	c.174C>G	c.(172-174)ctC>ctG	p.L58L	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	58								p.L58L(1)		large_intestine(2)|urinary_tract(1)	3						CCCCGCTACTGAGTGGCAAGA	0.522000													42	151					0	0	0.098360	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839872	27839872	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:27839872C>T	ENST00000328488.2	-	1	227	c.222G>A	c.(220-222)gaG>gaA	p.E74E		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	74					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.E74E(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTGTGCGATCTCCCGTACCA	0.622000													28	38					0	0	0.116897	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102442048	102442048	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:102442048G>C	ENST00000360184.4	+	2	420		c.e2-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						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.?(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						ATGATTTGTAGAGGACGTCGG	0.323000													3	76					0	0	0.009096	0	0
ASUN	55726	broad.mit.edu	37	12	27067369	27067369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:27067369G>T	ENST00000261191.7	-	12	1927	c.1391C>A	c.(1390-1392)tCa>tAa	p.S464*	ASUN_ENST00000539625.1_Nonsense_Mutation_p.S363*	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	464					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.S464*(1)									GGTGGTTTGTGAAATGATCAT	0.343000													27	101					1.75199e-13	1.91238e-13	0.125774	1	0
PAIP1	10605	broad.mit.edu	37	5	43533846	43533846	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:43533846C>T	ENST00000306846.3	-	9	1478	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	PAIP1_ENST00000436644.2_Missense_Mutation_p.D337N|PAIP1_ENST00000338972.4_Missense_Mutation_p.D304N|PAIP1_ENST00000514514.1_Missense_Mutation_p.D337N	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	416					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	p.D416N(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATACCTGGATCAGCTGCAGTG	0.358000													30	130					0	0	0.134883	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	45					0	0	0.009096	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152570	50152570	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:50152570G>A	ENST00000284509.6	-	28	3541	c.3400C>T	c.(3400-3402)Cac>Tac	p.H1134Y	ATP8B4_ENST00000559829.1_Missense_Mutation_p.H1134Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1134					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.H1134Y(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCTTCTTGGTGAGCAAAAGCA	0.507000													50	115					0	0	0.139131	0	0
ZNF57	126295	broad.mit.edu	37	19	2918122	2918122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:2918122G>C	ENST00000306908.5	+	4	1651	c.1503G>C	c.(1501-1503)gaG>gaC	p.E501D	ZNF57_ENST00000523428.1_Missense_Mutation_p.E469D|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E501D(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACTGGAGAGAAACCTCACA	0.463000													29	37					0	0	0.108266	0	0
EID2B	126272	broad.mit.edu	37	19	40023151	40023151	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:40023151C>G	ENST00000326282.4	-	1	343	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	98					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E98Q(1)		endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCAGATACTCGCGGAACAAC	0.612000													7	52					0	0	0.038147	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329025	23329025	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:23329025G>C	ENST00000597761.2	+	4	1378	c.1179G>C	c.(1177-1179)gaG>gaC	p.E393D		NM_001277403.1	NP_001264332.1			zinc finger protein 730									p.E393D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATACTGTAGAGAAATTTTACA	0.348000													10	44					0	0	0.069234	0	0
LRR1	122769	broad.mit.edu	37	14	50074213	50074213	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:50074213G>A	ENST00000298288.6	+	3	702	c.378G>A	c.(376-378)gtG>gtA	p.V126V	LRR1_ENST00000557531.1_3'UTR|LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	126								p.V126V(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCACACCAGTGAAGACTTCAG	0.368000													31	95					0	0	0.125774	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394101	233394101	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:233394101C>T	ENST00000258229.9	-	5	1741	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane		p.E503K(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)				ACCTTAGACTCGGAGCCTGTA	0.562000													18	57					0	0	0.043863	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169717349	169717349	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:169717349G>A	ENST00000444448.2	+	17	1871	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	NOSTRIN_ENST00000445023.2_Missense_Mutation_p.M330I|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.M380I|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.M465I|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.M380I|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.M408I|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.M330I			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	408	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	p.M465I(1)|p.M408I(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CTTTTTTAATGAAGAGATTAG	0.378000													26	75					0	0	0.108266	0	0
RYR3	6263	broad.mit.edu	37	15	34047305	34047305	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:34047305G>C	ENST00000389232.4	+	58	8509	c.8439G>C	c.(8437-8439)gaG>gaC	p.E2813D	RYR3_ENST00000415757.3_Missense_Mutation_p.E2813D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2813	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E2813D(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)		CCTCCATGGAGAAGAGGTTTG	0.443000													4	20					0	0	0.014758	0	0
SGOL2	151246	broad.mit.edu	37	2	201437629	201437629	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:201437629G>C	ENST00000357799.4	+	7	2658	c.2560G>C	c.(2560-2562)Gaa>Caa	p.E854Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	854					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.E854Q(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AACAATTTCTGAAAATCTACA	0.308000													48	144					0	0	0.139131	0	0
RNF20	56254	broad.mit.edu	37	9	104309797	104309797	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:104309797G>A	ENST00000389120.3	+	9	1179	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	363					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.L363L(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATGAAAAGCTGAAGGTAGGAA	0.453000													11	29					0	0	0.069234	0	0
HNF4A	3172	broad.mit.edu	37	20	43030114	43030114	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:43030114G>A	ENST00000316099.4	+	1	191	c.102G>A	c.(100-102)ttG>ttA	p.L34L	HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.2_Silent_p.L34L|HNF4A_ENST00000443598.2_Silent_p.L34L|HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000609795.1_Intron	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.L34L(2)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCAGGTGTTGACGATGGGCA	0.587000													5	36					0	0	0.021553	0	0
EXO1	9156	broad.mit.edu	37	1	242048726	242048726	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:242048726G>A	ENST00000366548.3	+	15	2915	c.2322G>A	c.(2320-2322)caG>caA	p.Q774Q	EXO1_ENST00000518483.1_Silent_p.Q774Q|EXO1_ENST00000348581.5_Silent_p.Q774Q	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	774	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.Q774Q(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAAGCATCCAGAAGAGAAAGC	0.453000								Editing and processing nucleases					19	53					0	0	0.049695	0	0
FSHR	2492	broad.mit.edu	37	2	49244635	49244635	+	Nonsense_Mutation	SNP	G	G	A	rs138079934	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:49244635G>A	ENST00000406846.2	-	4	486	c.367C>T	c.(367-369)Caa>Taa	p.Q123*	FSHR_ENST00000304421.4_Nonsense_Mutation_p.Q123*|FSHR_ENST00000346173.3_Nonsense_Mutation_p.Q123*	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	123					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.Q123*(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)	TACAGATATTGAAGGTTGGGA	0.398000									Gonadal Dysgenesis, 46 XX				14	52					0	0	0.105934	0	0
MTBP	27085	broad.mit.edu	37	8	121530149	121530149	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:121530149C>T	ENST00000305949.1	+	19	2350	c.2305C>T	c.(2305-2307)Cac>Tac	p.H769Y		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	769	Interaction with MDM2 (By similarity).				cell cycle arrest			p.H769Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAATAGTAATCACTATCATCA	0.393000													25	79					0	0	0.091800	0	0
C15orf57	90416	broad.mit.edu	37	15	40856969	40856969	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:40856969G>A	ENST00000558750.1	-	1	210	c.11C>T	c.(10-12)tCt>tTt	p.S4F	C15orf57_ENST00000560109.1_Intron|C15orf57_ENST00000558113.1_Intron|C15orf57_ENST00000558871.1_Intron|C15orf57_ENST00000416810.2_Intron|C15orf57_ENST00000358005.3_Intron|C15orf57_ENST00000561011.1_Intron|C15orf57_ENST00000559911.1_Intron|C15orf57_ENST00000560305.1_Intron			Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	0								p.S4F(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						GCTCACACCAGAGCCCCGCAT	0.592000													10	34					0	0	0.058154	0	0
LINC00521	256369	broad.mit.edu	37	14	94464544	94464544	+	RNA	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:94464544C>G	ENST00000444118.1	+	0	224					NR_024182.1													p.Q20E(1)									AGGGGACCTTCAAGGGCTGTG	0.612000													17	20					0	0	0.146539	0	0
ADAM15	8751	broad.mit.edu	37	1	155033250	155033250	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:155033250C>T	ENST00000356955.2	+	19	2320	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	ADAM15_ENST00000368410.2_Missense_Mutation_p.S446F|ADAM15_ENST00000531455.1_Missense_Mutation_p.S750F|ADAM15_ENST00000359280.4_Missense_Mutation_p.S740F|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.S740F|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.S740F|ADAM15_ENST00000271836.6_Missense_Mutation_p.S740F|ADAM15_ENST00000368413.1_Missense_Mutation_p.S446F	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	740					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.S740F(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCAGCCCAATCTGGTCCCTCT	0.602000													7	46					0	0	0.038147	0	0
TCF12	6938	broad.mit.edu	37	15	57565418	57565418	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:57565418C>G	ENST00000267811.5	+	18	2168	c.1864C>G	c.(1864-1866)Caa>Gaa	p.Q622E	TCF12_ENST00000438423.2_Missense_Mutation_p.Q646E|TCF12_ENST00000543579.1_Missense_Mutation_p.Q476E|TCF12_ENST00000343827.3_Missense_Mutation_p.Q452E|TCF12_ENST00000537840.1_Missense_Mutation_p.Q386E|TCF12_ENST00000452095.2_Missense_Mutation_p.Q642E|TCF12_ENST00000333725.5_Missense_Mutation_p.Q646E|TCF12_ENST00000557843.1_Missense_Mutation_p.Q622E|TCF12_ENST00000559703.1_Missense_Mutation_p.Q279E|TCF12_ENST00000559710.1_Missense_Mutation_p.Q256E	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	622	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q646E(2)|p.Q642E(1)|p.Q452E(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TATTCTTCATCAAGCCGTGGC	0.448000			T	TEC	extraskeletal myxoid chondrosarcoma								11	40					0	0	0.080935	0	0
PPOX	5498	broad.mit.edu	37	1	161138959	161138959	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:161138959G>C	ENST00000367999.4	+	7	1059	c.793G>C	c.(793-795)Gaa>Caa	p.E265Q	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.E265Q|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	265					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	p.E265Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTCCAGGCAGAAGGGCGCTG	0.567000													16	41					0	0	0.038395	0	0
CP	1356	broad.mit.edu	37	3	148897410	148897410	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:148897410G>A	ENST00000264613.6	-	15	2856	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	865	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.S865F(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TCCAGCTCCAGATCTTTCTGG	0.363000													11	68					0	0	0.093190	0	0
TRMT1L	81627	broad.mit.edu	37	1	185112497	185112497	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:185112497C>G	ENST00000367504.3	-	7	1122	c.383G>C	c.(382-384)gGa>gCa	p.G128A	TRMT1L_ENST00000367506.5_Missense_Mutation_p.G284A			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	284						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	p.G284A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCAGTGGCTCCAAAAGCATC	0.343000													29	122					0	0	0.050027	0	0
CEACAM1	634	broad.mit.edu	37	19	43026092	43026092	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:43026092G>A	ENST00000161559.6	-	3	821	c.687C>T	c.(685-687)gtC>gtT	p.V229V	LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Silent_p.V229V|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Silent_p.V189V|CEACAM1_ENST00000599389.1_Silent_p.V229V|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403444.3_Silent_p.V229V|CEACAM1_ENST00000358394.3_Silent_p.V229V|CEACAM1_ENST00000352591.5_Silent_p.V229V|LIPE-AS1_ENST00000594688.1_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	229	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		p.V229V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CATTCAAGGTGACTGGGTCAC	0.557000													40	131					0	0	0.092188	0	0
CBLC	23624	broad.mit.edu	37	19	45285644	45285644	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:45285644C>G	ENST00000270279.3	+	4	738	c.675C>G	c.(673-675)ctC>ctG	p.L225L	CBLC_ENST00000341505.4_Silent_p.L225L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	225	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.L225L(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CAACACTCCTCAAGAACTGGC	0.612000			M		AML								25	122					0	0	0.144211	0	0
SMARCA5	8467	broad.mit.edu	37	4	144469207	144469207	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:144469207G>C	ENST00000283131.3	+	22	3361	c.2899G>C	c.(2899-2901)Gaa>Caa	p.E967Q		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	967	SANT 2.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	p.E967Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ATTTGACAAAGAAAATGTTTA	0.373000													27	69					0	0	0.099896	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964271	73964271	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:73964271G>C	ENST00000055682.6	-	3	732	c.121C>G	c.(121-123)Cta>Gta	p.L41V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.L41V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCAGCTTCTAGAGCTGCAAAT	0.463000													12	10					0	0	0.105934	0	0
EPHB1	2047	broad.mit.edu	37	3	134920360	134920360	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:134920360C>G	ENST00000398015.3	+	12	2545	c.2175C>G	c.(2173-2175)ctC>ctG	p.L725L	EPHB1_ENST00000493838.1_Silent_p.L286L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	725	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.L725L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGGTATGCTCAGGGGCATCG	0.507000													54	139					0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9061174	9061174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:9061174G>C	ENST00000397910.4	-	3	26475	c.26272C>G	c.(26272-26274)Caa>Gaa	p.Q8758E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8760	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q8758E(2)|p.Q4391E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTGTGGATTGAGCAGGACCT	0.498000													22	47					0	0	0.062417	0	0
C3orf52	79669	broad.mit.edu	37	3	111821711	111821711	+	Missense_Mutation	SNP	G	G	C	rs139531193	by1000genomes	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:111821711G>C	ENST00000264848.5	+	3	354	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q	C3orf52_ENST00000430855.1_Missense_Mutation_p.E99Q|C3orf52_ENST00000431717.2_Missense_Mutation_p.E99Q	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	99						endoplasmic reticulum membrane|integral to membrane		p.E99Q(2)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						AGATGAAAATGAAATACTTGA	0.343000													2	5					0	0	0.115264	0	0
PPP4R2	151987	broad.mit.edu	37	3	73114035	73114035	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:73114035C>G	ENST00000356692.5	+	8	924	c.671C>G	c.(670-672)tCa>tGa	p.S224*	PPP4R2_ENST00000295862.9_Nonsense_Mutation_p.S168*|PPP4R2_ENST00000394284.3_Nonsense_Mutation_p.S167*			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	224					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	p.S224*(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GAAGTTTCCTCAGTGAGCCCT	0.378000													25	58					0	0	0.083992	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770004	112770004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:112770004G>A	ENST00000390666.3	-	1	724	c.533C>T	c.(532-534)tCa>tTa	p.S178L	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	178	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.S178L(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ATACGCTGGTGACCCACAGAA	0.567000													7	28					0	0	0.038147	0	0
TTN	7273	broad.mit.edu	37	2	179440567	179440567	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179440567C>G	ENST00000589042.1	-	326	70516	c.70292G>C	c.(70291-70293)aGa>aCa	p.R23431T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R21790T|TTN_ENST00000359218.5_Missense_Mutation_p.R14491T|TTN_ENST00000460472.2_Missense_Mutation_p.R14366T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14558T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R20863T|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21790	Fibronectin type-III 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14558T(1)|p.R14491T(1)|p.R14366T(1)|p.R20863T(1)|p.R20861T(1)		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)			GTCCAAGACTCTGACGTTCAC	0.502000													48	131					0	0	0.139131	0	0
TROAP	10024	broad.mit.edu	37	12	49722719	49722719	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:49722719G>A	ENST00000551245.1	+	9	1012	c.901G>A	c.(901-903)Gac>Aac	p.D301N	TROAP_ENST00000547923.1_Missense_Mutation_p.D9N|TROAP_ENST00000257909.3_Missense_Mutation_p.D301N			Q12815	TROAP_HUMAN	trophinin associated protein	301					cell adhesion	cytoplasm		p.D301N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGACAGCCATGACTCCCACCT	0.572000													20	49					0	0	0.049695	0	0
DSP	1832	broad.mit.edu	37	6	7581491	7581491	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:7581491G>A	ENST00000379802.3	+	23	5409	c.5068G>A	c.(5068-5070)Gaa>Aaa	p.E1690K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1690	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.E1690K(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAGGCGATAGAAGATAAAAG	0.458000													31	57					0	0	0.134883	0	0
ATP10D	57205	broad.mit.edu	37	4	47593107	47593107	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:47593107G>C	ENST00000273859.3	+	23	4259	c.3990G>C	c.(3988-3990)ctG>ctC	p.L1330L		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1330					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L1330L(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTCCAATTCTGAGAGCTAAGC	0.413000													30	92					0	0	0.134883	0	0
CATSPER2	117155	broad.mit.edu	37	15	43932621	43932621	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:43932621C>T	ENST00000396879.1	-	6	574	c.462G>A	c.(460-462)ttG>ttA	p.L154L	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.L154L|CATSPER2_ENST00000321596.5_Silent_p.L154L|CATSPER2_ENST00000355438.2_Silent_p.L154L|CATSPER2_ENST00000381761.1_Silent_p.L160L	NM_001282309.1	NP_001269238.1	Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	154					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	p.L154L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGAAAATAAGCAAGATAAACC	0.418000													43	97					0	0	0.092188	0	0
SLC9C1	285335	broad.mit.edu	37	3	111996650	111996650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:111996650G>C	ENST00000305815.5	-	5	628	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L126V	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	126					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.L126V(1)									ACAGATGCCAGATGCCAAAGA	0.343000													29	95					0	0	0.125774	0	0
FCHSD1	89848	broad.mit.edu	37	5	141025388	141025388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:141025388C>G	ENST00000435817.2	-	13	1311	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	FCHSD1_ENST00000522126.1_Missense_Mutation_p.E345Q|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Splice_Site_p.E347Q	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	421								p.E421Q(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCCGCTCCTGCTCCACC	0.642000													4	9					0	0	0.047766	0	0
RTCA	8634	broad.mit.edu	37	1	100732130	100732130	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:100732130C>T	ENST00000370128.4	+	2	265	c.96C>T	c.(94-96)ctC>ctT	p.L32L	RTCA_ENST00000498617.1_3'UTR|RTCA_ENST00000370126.1_Silent_p.L32L|RTCA_ENST00000260563.4_Silent_p.L32L	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	32					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	p.L32L(1)									TCCTAGGCCTCCCCTTGCGGG	0.637000													5	13					0	0	0.021553	0	0
WDR1	9948	broad.mit.edu	37	4	10083020	10083020	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:10083020G>A	ENST00000382452.2	-	11	1527	c.1245C>T	c.(1243-1245)gtC>gtT	p.V415V	WDR1_ENST00000502702.1_Silent_p.V275V|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Silent_p.V275V|WDR1_ENST00000499869.2_Silent_p.V415V	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	415					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	p.V415V(1)|p.V416V(1)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCCGGGGCCGACGGCTACGC	0.567000													14	31					0	0	0.132662	0	0
TPRA1	131601	broad.mit.edu	37	3	127295478	127295478	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:127295478C>T	ENST00000355552.3	-	6	856	c.480G>A	c.(478-480)ctG>ctA	p.L160L	TPRA1_ENST00000450633.2_Silent_p.L160L|TPRA1_ENST00000296210.7_Silent_p.L160L|TPRA1_ENST00000489960.1_Silent_p.L160L	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	160					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	p.L160L(1)		endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						CAGAGTAGGCCAGGGACAGCA	0.617000													3	14					0	0	0.115264	0	0
PLVAP	83483	broad.mit.edu	37	19	17487865	17487865	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:17487865G>A	ENST00000252590.4	-	1	294	c.233C>T	c.(232-234)aCg>aTg	p.T78M		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	78						caveola|integral to membrane|perinuclear region of cytoplasm		p.T78M(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGGAGGCCGTGAGCCCTAG	0.617000													10	32					0	0	0.069234	0	0
URB2	9816	broad.mit.edu	37	1	229773886	229773886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:229773886C>T	ENST00000258243.2	+	4	3662	c.3526C>T	c.(3526-3528)Cag>Tag	p.Q1176*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1176						nucleolus		p.Q1176*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCAGTCTTTTCAGGCAGCCTT	0.498000													37	76					0	0	0.069456	0	0
SDCBP	6386	broad.mit.edu	37	8	59494245	59494245	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:59494245G>C	ENST00000523483.1	+	10	2417	c.903G>C	c.(901-903)cgG>cgC	p.R301R	SDCBP_ENST00000424270.2_Splice_Site_p.R275R|SDCBP_ENST00000520168.1_Splice_Site_p.R222R|SDCBP_ENST00000447182.2_Splice_Site_p.R280R|SDCBP_ENST00000260130.4_Splice_Site_p.R281R|SDCBP_ENST00000413219.2_Splice_Site_p.R281R|SDCBP_ENST00000422546.2_Splice_Site_p.R280R|SDCBP_ENST00000447267.2_Splice_Site_p.R227R			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	281					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	p.R281R(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCTCTTGTAGGATGGCACCAA	0.383000													24	71					0	0	0.076483	0	0
OR5W2	390148	broad.mit.edu	37	11	55681643	55681643	+	Missense_Mutation	SNP	C	C	G	rs12786096		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:55681643C>G	ENST00000344514.1	-	1	415	c.416G>C	c.(415-417)aGa>aCa	p.R139T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATAGCACACTCTGCTAGACAT	0.468000													20	46					0	0	0.043863	0	0
GCC2	9648	broad.mit.edu	37	2	109100719	109100719	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:109100719G>A	ENST00000309863.6	+	13	4279	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1189					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.E1189K(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTGGAGCAAGAAATAAAAAT	0.254000													21	50					0	0	0.049695	0	0
ZNF736	728927	broad.mit.edu	37	7	63809022	63809022	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:63809022G>C	ENST00000423484.2	+	4	903	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q	ZNF736_ENST00000355095.4_Missense_Mutation_p.E261Q			B4DX44	ZN736_HUMAN	zinc finger protein 736						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E261Q(1)		breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						CAAATGTGAAGAATGTGGCAA	0.388000													3	15					0	0	0.115264	0	0
COL12A1	1303	broad.mit.edu	37	6	75843060	75843060	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:75843060G>T	ENST00000322507.8	-	34	6052	c.5743C>A	c.(5743-5745)Ccc>Acc	p.P1915T	COL12A1_ENST00000416123.2_Missense_Mutation_p.P1915T|COL12A1_ENST00000345356.6_Missense_Mutation_p.P751T|COL12A1_ENST00000483888.2_Missense_Mutation_p.P1915T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1915	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.P1915T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTATAAACGGGAACTACAGTC	0.373000													27	59					5.61819e-17	6.17602e-17	0.108266	1	0
DMPK	1760	broad.mit.edu	37	19	46285508	46285508	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:46285508C>G	ENST00000291270.4	-	1	228	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	DMPK_ENST00000447742.2_Missense_Mutation_p.E35Q|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000354227.5_Missense_Mutation_p.E35Q|DMPK_ENST00000458663.2_Missense_Mutation_p.E35Q	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	0					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E35Q(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGCCCAGCTCCTGGTGGACG	0.692000													5	6					0	0	0.029380	0	0
DPYS	1807	broad.mit.edu	37	8	105459566	105459566	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:105459566C>T	ENST00000351513.2	-	3	721	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	197					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.D197N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAATTAAGTCTCCATTTTCC	0.453000													12	34					0	0	0.093190	0	0
FAM96A	84191	broad.mit.edu	37	15	64385901	64385901	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:64385901C>T	ENST00000557835.1	-	1	93	c.67G>A	c.(67-69)Gag>Aag	p.E23K	FAM96A_ENST00000559950.1_Missense_Mutation_p.E23K|FAM96A_ENST00000380290.3_Missense_Mutation_p.E23K|FAM96A_ENST00000300030.3_Missense_Mutation_p.E23K			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	23					chromosome segregation			p.E23K(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GCTCCCGGCTCAGAGAGGCCG	0.582000													8	27					0	0	0.058154	0	0
EML5	161436	broad.mit.edu	37	14	89168814	89168814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:89168814C>G	ENST00000554922.1	-	14	2462	c.2214G>C	c.(2212-2214)ttG>ttC	p.L738F	EML5_ENST00000352093.5_Missense_Mutation_p.L738F|EML5_ENST00000380664.5_Missense_Mutation_p.L738F	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	738						cytoplasm|microtubule		p.L738F(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGTAGTCTTTCAAAGGATGAA	0.388000													7	53					0	0	0.029380	0	0
SCYL3	57147	broad.mit.edu	37	1	169839492	169839492	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:169839492C>G	ENST00000367771.6	-	6	743	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	SCYL3_ENST00000367770.1_Missense_Mutation_p.E177Q|SCYL3_ENST00000367772.4_Missense_Mutation_p.E177Q|SCYL3_ENST00000470238.1_5'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.E177Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTGTGAATTCTGGAGACTAA	0.398000													24	69					0	0	0.091800	0	0
POLA2	23649	broad.mit.edu	37	11	65034149	65034149	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:65034149C>T	ENST00000265465.3	+	2	707	c.176C>T	c.(175-177)tCa>tTa	p.S59L	POLA2_ENST00000541089.1_Intron	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	59					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	p.S59L(2)		endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GGCCTTACCTCAGAGATCCTG	0.433000													18	25					0	0	0.038395	0	0
SGSH	6448	broad.mit.edu	37	17	78188482	78188482	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:78188482G>C	ENST00000570923.1	-	4	497	c.473C>G	c.(472-474)tCc>tGc	p.S158C	SGSH_ENST00000572208.1_Intron|SGSH_ENST00000326317.6_Silent_p.L146L|SGSH_ENST00000534910.1_5'UTR			P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	0					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	p.L146L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCCCACCTGGAGGACGGAGC	0.612000													13	30					0	0	0.105934	0	0
PLCH1	23007	broad.mit.edu	37	3	155232664	155232664	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:155232664T>A	ENST00000460012.1	-	12	1747	c.1390A>T	c.(1390-1392)Acc>Tcc	p.T464S	PLCH1_ENST00000447496.2_Missense_Mutation_p.T482S|PLCH1_ENST00000334686.6_Missense_Mutation_p.T464S|PLCH1_ENST00000494598.1_Missense_Mutation_p.T482S|PLCH1_ENST00000340059.7_Missense_Mutation_p.T482S|PLCH1_ENST00000414191.1_Missense_Mutation_p.T464S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	482					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T482S(1)|p.T464S(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCTCAGTGGTCCCATTACTC	0.348000													18	55					0	0	0.038395	0	0
PDLIM7	9260	broad.mit.edu	37	5	176910713	176910713	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:176910713C>G	ENST00000355841.2	-	13	1372	c.1306G>C	c.(1306-1308)Gaa>Caa	p.E436Q	PDLIM7_ENST00000359895.2_Missense_Mutation_p.E402Q|PDLIM7_ENST00000356618.4_3'UTR	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	436	LIM zinc-binding 3.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	p.E436Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCTTTCCTTCCAGGTTGATC	0.587000													6	27					0	0	0.021553	0	0
NEBL	10529	broad.mit.edu	37	10	21117520	21117520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:21117520G>A	ENST00000377122.4	-	17	2111	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	572					regulation of actin filament length		actin binding|structural constituent of muscle	p.S572F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTATGGTAGAATAGTTAGA	0.343000													12	51					0	0	0.080935	0	0
CCDC113	29070	broad.mit.edu	37	16	58292407	58292407	+	Missense_Mutation	SNP	G	G	A	rs151051990		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:58292407G>A	ENST00000219299.4	+	4	605	c.526G>A	c.(526-528)Gag>Aag	p.E176K	CCDC113_ENST00000443128.2_Missense_Mutation_p.E122K	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	176						protein complex		p.E176K(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GAAATACATTGAGGACATGAA	0.408000													13	61					0	0	0.105934	0	0
ARMC4	55130	broad.mit.edu	37	10	28273125	28273125	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:28273125C>G	ENST00000305242.5	-	5	762	c.670G>C	c.(670-672)Gaa>Caa	p.E224Q	ARMC4_ENST00000239715.3_Missense_Mutation_p.E81Q	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	224							binding	p.E224Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GAGGTATATTCAATAGATTCC	0.328000													10	164					0	0	0.069234	0	0
SPTBN1	6711	broad.mit.edu	37	2	54874297	54874297	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:54874297G>A	ENST00000333896.5	+	23	5242	c.4857G>A	c.(4855-4857)aaG>aaA	p.K1619K	SPTBN1_ENST00000356805.4_Silent_p.K1632K	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1632	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.K1632K(1)|p.K1619K(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCATGTTGAAGAAGCACCAGA	0.552000													25	89					0	0	0.091800	0	0
C1orf168	199920	broad.mit.edu	37	1	57233546	57233546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:57233546G>A	ENST00000343433.6	-	5	1099	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	340								p.S340F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGAGTTGCCAGAGTGTCTCAG	0.368000													23	107					0	0	0.091800	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77605820	77605820	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:77605820G>C	ENST00000319374.4	-	2	464	c.262C>G	c.(262-264)Cca>Gca	p.P88A	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	88						integral to membrane	acyltransferase activity|zinc ion binding	p.P88A(2)		kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GAGGGGCATGGAGTCTTCCTG	0.627000													5	9					0	0	0.014758	0	0
GNRHR	2798	broad.mit.edu	37	4	68619664	68619664	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:68619664G>A	ENST00000226413.4	-	1	414	c.390C>T	c.(388-390)ttC>ttT	p.F130F	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.F130F	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	130					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.F130F(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	CCACCATCATGAAGGCTGGGG	0.507000													12	42					0	0	0.105934	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952074	178952074	+	Missense_Mutation	SNP	G	G	T	rs121913283		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:178952074G>T	ENST00000263967.3	+	21	3286	c.3129G>T	c.(3127-3129)atG>atT	p.M1043I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(66)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAACAAATGAATGATGCAC	0.368000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			28	55					2.4375e-19	2.70833e-19	0.125774	1	0
COX6C	1345	broad.mit.edu	37	8	100904266	100904266	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:100904266G>C	ENST00000520468.2	-	0	438				COX6C_ENST00000523016.1_De_novo_Start_OutOfFrame|COX6C_ENST00000520271.1_De_novo_Start_OutOfFrame|COX6C_ENST00000518171.1_De_novo_Start_OutOfFrame|COX6C_ENST00000517682.2_De_novo_Start_OutOfFrame|COX6C_ENST00000297564.2_De_novo_Start_OutOfFrame|COX6C_ENST00000524245.1_De_novo_Start_OutOfFrame|COX6C_ENST00000522940.1_De_novo_Start_OutOfFrame	NM_004374.3	NP_004365.1	P09669	COX6C_HUMAN	cytochrome c oxidase subunit VIc						respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity		HMGA2/COX6C(2)	liver(1)|lung(2)	3			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TACTGTCCTTGATACGTAtgc	0.448000			T	HMGA2	uterine leiomyoma								28	73					0	0	0.134883	0	0
ZFHX3	463	broad.mit.edu	37	16	72992824	72992824	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:72992824G>A	ENST00000268489.5	-	2	1893	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	407					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.T407T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTACCGAGCTGGTGAGCCCGC	0.657000													40	106					0	0	0.104719	0	0
NR2F1	7025	broad.mit.edu	37	5	92929285	92929285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:92929285G>A	ENST00000327111.3	+	3	2696	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	337					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.D337N(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGGCCTGTCGGATGCGGCCCA	0.587000													28	90					0	0	0.134883	0	0
OR10X1	128367	broad.mit.edu	37	1	158549553	158549553	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:158549553A>G	ENST00000368150.1	-	1	136	c.137T>C	c.(136-138)gTc>gCc	p.V46A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V46A(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACAAAAGAAGACCACAAAAAG	0.433000													37	108					0	0	0.111260	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088132	92088132	+	Missense_Mutation	SNP	G	G	C	rs143009010		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:92088132G>C	ENST00000256343.3	-	19	2236	c.2080C>G	c.(2080-2082)Cta>Gta	p.L694V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	694					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.L694V(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTGCTCTTTAGAAAGGTCATA	0.383000													51	137					0	0	0.139131	0	0
SSX2IP	117178	broad.mit.edu	37	1	85127956	85127956	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:85127956C>G	ENST00000437941.2	-	7	1123	c.771G>C	c.(769-771)atG>atC	p.M257I	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.M284I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.M257I|SSX2IP_ENST00000370612.4_Missense_Mutation_p.M284I	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	284					cell adhesion	nucleus|protein complex		p.M284I(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTCCTTTTTCATTTGTTGAA	0.323000													7	231					0	0	0.029380	0	0
ATG2B	55102	broad.mit.edu	37	14	96752292	96752292	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:96752292C>T	ENST00000359933.4	-	42	6930	c.6037G>A	c.(6037-6039)Gaa>Aaa	p.E2013K		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2013								p.E2013K(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCCGCAGTTTCATAAATGGTC	0.557000													6	16					0	0	0.069234	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629592	155629592	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:155629592C>T	ENST00000368340.5	-	10	2571	c.2463G>A	c.(2461-2463)gtG>gtA	p.V821V	YY1AP1_ENST00000535662.1_Silent_p.V549V|YY1AP1_ENST00000407221.1_Silent_p.V672V|YY1AP1_ENST00000295566.4_Silent_p.V749V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368330.2_Silent_p.V703V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Silent_p.V703V|YY1AP1_ENST00000355499.4_Silent_p.V703V|YY1AP1_ENST00000404643.1_Silent_p.V683V|YY1AP1_ENST00000311573.5_Silent_p.V672V|YY1AP1_ENST00000368339.5_Silent_p.V841V|YY1AP1_ENST00000361831.5_Silent_p.V692V|YY1AP1_ENST00000359205.5_Silent_p.V692V	NM_001198904.1	NP_001185833.1			YY1 associated protein 1									p.V841V(1)|p.V749V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCTCTGTTTTCACAACGGTCC	0.527000													30	106					0	0	0.144211	0	0
CTF1	1489	broad.mit.edu	37	16	30910757	30910757	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:30910757C>G	ENST00000279804.2	+	2	84	c.47C>G	c.(46-48)tCa>tGa	p.S16*	CTF1_ENST00000395019.3_Nonsense_Mutation_p.S15*	NM_001142544.1|NM_001330.3	NP_001136016.1|NP_001321.1	Q16619	CTF1_HUMAN	cardiotrophin 1	16					cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation	extracellular space	cytokine activity|leukemia inhibitory factor receptor binding	p.S16*(1)		large_intestine(1)|urinary_tract(1)	2			Colorectal(24;0.198)			ACTGATTCCTCAGTCTCACTT	0.562000													21	52					0	0	0.069288	0	0
SCN4A	6329	broad.mit.edu	37	17	62020202	62020202	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:62020202G>A	ENST00000435607.1	-	23	4348	c.4272C>T	c.(4270-4272)gtC>gtT	p.V1424V	SCN4A_ENST00000578147.1_Silent_p.V1424V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1424					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1424V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGGACAGGATGACGACCACGA	0.602000													6	22					0	0	0.021553	0	0
C16orf62	57020	broad.mit.edu	37	16	19621680	19621680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:19621680G>A	ENST00000438132.3	+	12	1281	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	C16orf62_ENST00000542263.1_Missense_Mutation_p.M411I|C16orf62_ENST00000448695.1_Missense_Mutation_p.M172I|C16orf62_ENST00000543152.1_Missense_Mutation_p.M71I|C16orf62_ENST00000417362.2_Missense_Mutation_p.M322I|C16orf62_ENST00000251143.5_Missense_Mutation_p.M322I	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	322						integral to membrane		p.M322I(1)|p.M411I(1)		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						TGACATGCATGATCAGAGGGA	0.547000													5	17					0	0	0.021553	0	0
ZNF485	220992	broad.mit.edu	37	10	44112076	44112076	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:44112076G>A	ENST00000361807.3	+	5	779	c.585G>A	c.(583-585)ctG>ctA	p.L195L	ZNF485_ENST00000374437.2_Silent_p.L104L|ZNF485_ENST00000374435.3_Silent_p.L195L	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L195L(1)|p.L156L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGAAGTTCCTGAAGAAGCACT	0.393000													31	90					0	0	0.144211	0	0
DNPEP	23549	broad.mit.edu	37	2	220246839	220246839	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:220246839C>T	ENST00000273075.4	-	11	1179	c.959G>A	c.(958-960)gGa>gAa	p.G320E	DNPEP_ENST00000373972.1_Missense_Mutation_p.G245E|DNPEP_ENST00000523282.1_Missense_Mutation_p.G328E	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	310					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	p.G320E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGACTGTGCTCCCTGTGCACT	0.602000													6	20					0	0	0.021553	0	0
TBC1D15	64786	broad.mit.edu	37	12	72291701	72291701	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:72291701G>A	ENST00000550746.1	+	11	1278	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	TBC1D15_ENST00000319106.8_Missense_Mutation_p.R396K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R159K|TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R388K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	405	Rab-GAP TBC.						protein binding|Rab GTPase activator activity	p.R396K(1)|p.R405K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGAGGTTAAGAGATTATAGA	0.333000													28	71					0	0	0.099896	0	0
CGN	57530	broad.mit.edu	37	1	151491775	151491775	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:151491775C>T	ENST00000271636.7	+	2	913	c.780C>T	c.(778-780)ctC>ctT	p.L260L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	254	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity	p.L260L(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGTCCTCTCAGTGGCTTTA	0.582000													13	40					0	0	0.105934	0	0
SMG6	23293	broad.mit.edu	37	17	2202737	2202737	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:2202737C>A	ENST00000544865.1	-	2	1727	c.1217G>T	c.(1216-1218)gGa>gTa	p.G406V	SMG6_ENST00000263073.6_Missense_Mutation_p.G437V			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	437	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.G437V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTACCAGATCCAAACAAAAG	0.542000													42	78					1.96642e-18	2.17711e-18	0.092188	1	0
TBC1D9B	23061	broad.mit.edu	37	5	179318451	179318451	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:179318451G>A	ENST00000356834.3	-	6	1009	c.972C>T	c.(970-972)ttC>ttT	p.F324F	TBC1D9B_ENST00000355235.3_Silent_p.F324F	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	324	GRAM 2.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	p.F324F(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTGGAGATGAACATCTGGC	0.597000													32	61					0	0	0.054565	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													4	48					0	0	0.009096	0	0
CLUAP1	23059	broad.mit.edu	37	16	3569975	3569975	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:3569975G>A	ENST00000571025.1	+	7	702	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000572600.1_Missense_Mutation_p.E52K|CLUAP1_ENST00000576634.1_Missense_Mutation_p.E218K|CLUAP1_ENST00000417763.2_Missense_Mutation_p.E52K|CLUAP1_ENST00000341633.5_Missense_Mutation_p.E218K			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	218						nucleus	protein binding	p.E218K(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AGCCAAAATCGAAAAGAGAAA	0.383000													40	147					0	0	0.098360	0	0
PTPRG	5793	broad.mit.edu	37	3	62261595	62261595	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:62261595G>A	ENST00000474889.1	+	24	3890	c.3513G>A	c.(3511-3513)caG>caA	p.Q1171Q	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Silent_p.Q1142Q|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1171	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q1171Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCAGTGCTCAGAAAGAGTGTA	0.318000													20	27					0	0	0.069288	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84563822	84563822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:84563822G>A	ENST00000369689.1	+	3	332	c.181G>A	c.(181-183)Gat>Aat	p.D61N	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.D3N	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	61					somite rostral/caudal axis specification	nucleus		p.D61N(1)		large_intestine(2)|lung(4)|urinary_tract(1)	7						CCAGATGCCCGATGGCCCTGG	0.577000													17	34					0	0	0.049695	0	0
TRIM59	286827	broad.mit.edu	37	3	160156757	160156757	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:160156757G>C	ENST00000543469.1	-	2	429	c.215C>G	c.(214-216)tCt>tGt	p.S72C	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S72C|TRIM59_ENST00000309784.4_Missense_Mutation_p.S72C			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	72						integral to membrane|intracellular	zinc ion binding	p.S72C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACAGGTAAAGATTCAATGCC	0.393000													41	123					0	0	0.086207	0	0
CSMD3	114788	broad.mit.edu	37	8	113348981	113348981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:113348981G>A	ENST00000297405.5	-	44	7163	c.6919C>T	c.(6919-6921)Caa>Taa	p.Q2307*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q2267*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q2237*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q2203*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2307	CUB 13.					integral to membrane|plasma membrane		p.Q2267*(1)|p.Q2307*(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						AAACAATCTTGAAAGTTTGGA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			34	135					0	0	0.064281	0	0
MARCH6	10299	broad.mit.edu	37	5	10391798	10391798	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:10391798G>A	ENST00000274140.5	+	7	853	c.721G>A	c.(721-723)Gac>Aac	p.D241N	MARCH6_ENST00000449913.2_Missense_Mutation_p.D193N|MARCH6_ENST00000503788.1_Missense_Mutation_p.D136N	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	241					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.D241N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ggaggaagatgaCGCTGGTGT	0.552000													6	18					0	0	0.021553	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339251	13339251	+	RNA	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:13339251G>A	ENST00000602906.1	+	0	862																				kidney(3)|lung(1)	4						GGTTGACTCTGAGGATTTCCC	0.438000													7	22					0	0	0.029380	0	0
ZNF575	284346	broad.mit.edu	37	19	44039832	44039832	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:44039832G>C	ENST00000458714.2	+	5	1835	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T	ZNF575_ENST00000314228.5_Missense_Mutation_p.R244T|ZNF575_ENST00000601282.1_Missense_Mutation_p.R244T			Q86XF7	ZN575_HUMAN	zinc finger protein 575	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R244T(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				AAGGGGGAGAGAGACTGAGCC	0.612000													5	19					0	0	0.021553	0	0
LMAN2L	81562	broad.mit.edu	37	2	97373526	97373526	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:97373526C>G	ENST00000264963.4	-	7	851	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	LMAN2L_ENST00000426463.2_Missense_Mutation_p.E143Q|LMAN2L_ENST00000377079.4_Missense_Mutation_p.E288Q|LMAN2L_ENST00000534882.1_Missense_Mutation_p.E132Q|LMAN2L_ENST00000537039.1_Missense_Mutation_p.E139Q	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	277					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	p.E277Q(1)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GGGGTTCTCTCCACTGTCAGT	0.453000													40	109					0	0	0.086207	0	0
CLGN	1047	broad.mit.edu	37	4	141320087	141320087	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:141320087C>G	ENST00000325617.5	-	8	1242	c.802G>C	c.(802-804)Gaa>Caa	p.E268Q	CLGN_ENST00000414773.1_Missense_Mutation_p.E268Q|CLGN_ENST00000537281.1_Missense_Mutation_p.E268Q	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	268					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.E268Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTGGGATCTTCAATTTCTTTG	0.408000													9	215					0	0	0.047766	0	0
IPO8	10526	broad.mit.edu	37	12	30833508	30833508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:30833508G>A	ENST00000256079.4	-	5	885	c.547C>T	c.(547-549)Cag>Tag	p.Q183*		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	183					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.Q183*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATTTGTTGCTGAATACGAGGC	0.343000													71	140					0	0	0.139131	0	0
BPTF	2186	broad.mit.edu	37	17	65882295	65882295	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:65882295C>T	ENST00000321892.4	+	6	2166	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	BPTF_ENST00000424123.3_Missense_Mutation_p.S563F|BPTF_ENST00000335221.5_Missense_Mutation_p.S702F|BPTF_ENST00000306378.6_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	702	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.S702F(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCACTACCTCCATCCAGCCT	0.378000													34	59					0	0	0.069456	0	0
PPP4R2	151987	broad.mit.edu	37	3	73114241	73114241	+	Silent	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:73114241C>A	ENST00000356692.5	+	8	1130	c.877C>A	c.(877-879)Cgg>Agg	p.R293R	PPP4R2_ENST00000295862.9_Silent_p.R237R|PPP4R2_ENST00000394284.3_Silent_p.R236R			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	293					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	p.R293R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		CCGTTGTACCCGGCAGCACTG	0.428000													3	34					0.004672	0.00501149	0.115264	1	0
P2RX4	5025	broad.mit.edu	37	12	121654802	121654802	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:121654802G>A	ENST00000359949.7	+	2	279	c.179G>A	c.(178-180)aGa>aAa	p.R60K	P2RX4_ENST00000541532.1_Intron|P2RX4_ENST00000540930.1_Intron|P2RX4_ENST00000543171.1_Intron|P2RX4_ENST00000337233.4_Intron	NM_001256796.1	NP_001243725.1	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	45					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					gagtcccctagaaggtacgta	0.463000													12	21					0	0	0.080935	0	0
MEGF8	1954	broad.mit.edu	37	19	42848852	42848852	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:42848852C>G	ENST00000334370.4	+	12	2599	c.1964C>G	c.(1963-1965)tCa>tGa	p.S655*	MEGF8_ENST00000251268.6_Nonsense_Mutation_p.S655*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	705						integral to membrane	calcium ion binding|structural molecule activity	p.S655*(2)|p.S196*(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGCAGATCTCAGGCACTGTG	0.687000													13	43					0	0	0.033300	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862897	10862897	+	RNA	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr21:10862897G>C	ENST00000559480.1	+	0	193																		p.E65Q(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						ACAAGGGCTTGAGTGGATGGG	0.557000													20	192					0	0	0.099896	0	0
FREM1	158326	broad.mit.edu	37	9	14776080	14776080	+	Missense_Mutation	SNP	C	C	T	rs61735747	by1000genomes	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:14776080C>T	ENST00000380881.4	-	26	5382	c.4567G>A	c.(4567-4569)Gtg>Atg	p.V1523M	FREM1_ENST00000422223.2_Missense_Mutation_p.V1522M|FREM1_ENST00000380894.1_Missense_Mutation_p.V58M|FREM1_ENST00000380880.3_Missense_Mutation_p.V1522M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1522					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.V1523M(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAGGCCCACGGCCCCTTGG	0.617000													27	67					0	0	0.108266	0	0
NLRC5	84166	broad.mit.edu	37	16	57063929	57063929	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:57063929G>A	ENST00000436936.1	+	10	2575	c.2350G>A	c.(2350-2352)Gtg>Atg	p.V784M	NLRC5_ENST00000539144.1_Missense_Mutation_p.V784M|NLRC5_ENST00000262510.6_Missense_Mutation_p.V784M|NLRC5_ENST00000308149.7_Missense_Mutation_p.V784M			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	784					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.V784M(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)				CAGCATCTGCGTGTCAACCCT	0.577000													20	58					0	0	0.043863	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135883809	135883809	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:135883809G>A	ENST00000264158.8	+	10	932	c.889G>A	c.(889-891)Gat>Aat	p.D297N	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.D253N|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.D297N	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	297						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	p.D297N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTGGATAATGATGTTTATTC	0.308000													28	86					0	0	0.116897	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410194	105410194	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:105410194C>T	ENST00000333244.5	-	7	11713	c.11594G>A	c.(11593-11595)cGc>cAc	p.R3865H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3865						nucleus		p.R3865H(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)			GTCCACCTGGCGAGCTTGGAC	0.607000													63	154					0	0	0.139131	0	0
MEGF10	84466	broad.mit.edu	37	5	126734416	126734416	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:126734416G>C	ENST00000274473.6	+	8	975	c.708G>C	c.(706-708)caG>caC	p.Q236H	MEGF10_ENST00000503335.2_Missense_Mutation_p.Q236H|MEGF10_ENST00000418761.2_Missense_Mutation_p.Q236H|MEGF10_ENST00000508365.1_Missense_Mutation_p.Q236H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	236	EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.Q236H(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGTGTGAGCAGAGATGCCCTT	0.507000													23	71					0	0	0.069288	0	0
URB2	9816	broad.mit.edu	37	1	229773864	229773864	+	Silent	SNP	C	C	T	rs114023508	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:229773864C>T	ENST00000258243.2	+	4	3640	c.3504C>T	c.(3502-3504)ctC>ctT	p.L1168L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1168						nucleolus		p.L1168L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCCAGCTCTCGCGGGACATG	0.527000													35	64					0	0	0.064281	0	0
CDR1	1038	broad.mit.edu	37	X	139865962	139865962	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:139865962G>A	ENST00000370532.2	-	1	761	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	190	5 X 6 AA approximate repeats.							p.F190F(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACGTCTTCCAGAAAATCCATG	0.448000													69	139					0	0	0.139131	0	0
RYR1	6261	broad.mit.edu	37	19	39001344	39001344	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:39001344C>G	ENST00000355481.4	+	60	9176	c.9045C>G	c.(9043-9045)ctC>ctG	p.L3015L	RYR1_ENST00000360985.3_Silent_p.L3015L|RYR1_ENST00000359596.3_Silent_p.L3015L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3015					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.L3015L(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)	ACCACTGCCTCTATTTCTTGT	0.567000													46	152					0	0	0.139131	0	0
COL6A3	1293	broad.mit.edu	37	2	238277324	238277324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:238277324G>C	ENST00000295550.4	-	10	5234	c.4782C>G	c.(4780-4782)ttC>ttG	p.F1594L	COL6A3_ENST00000472056.1_Missense_Mutation_p.F987L|COL6A3_ENST00000409809.1_Missense_Mutation_p.F1388L|COL6A3_ENST00000346358.4_Missense_Mutation_p.F1394L|COL6A3_ENST00000347401.3_Missense_Mutation_p.F1393L|COL6A3_ENST00000353578.4_Missense_Mutation_p.F1388L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1594	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.F1594L(1)		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)		CTCGCACTGTGAAGACCAGTC	0.547000													33	229					0	0	0.059317	0	0
ZNF582	147948	broad.mit.edu	37	19	56895710	56895710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:56895710C>T	ENST00000301310.4	-	5	1234	c.1076G>A	c.(1075-1077)aGa>aAa	p.R359K	ZNF582_ENST00000586929.1_Missense_Mutation_p.R359K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R359K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GGTATGAATTCTCTGATGTCG	0.418000													25	193					0	0	0.083992	0	0
MIR410	574434	broad.mit.edu	37	14	101532269	101532269	+	RNA	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:101532269C>A	ENST00000362222.2	+	0	21					NR_030156.1																						AAGAGGTTGTCTGTGATGAGT	0.607000													4	47					0.00909568	0.00968956	0.009096	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70713661	70713661	+	RNA	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:70713661G>T	ENST00000530196.1	-	0	857					NR_003951.1																						CCACTATGTTGACAACAAGAA	0.368000													31	97					3.99451e-17	4.40675e-17	0.144211	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101834305	101834305	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:101834305C>G	ENST00000506729.1	-	1	415	c.244G>C	c.(244-246)Gat>Cat	p.D82H	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.D82H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.D82H|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.D82H|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.D82H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	82						integral to membrane|plasma membrane	transporter activity	p.D82H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAACTGTCATCCACTTCTCCC	0.493000													61	115					0	0	0.139131	0	0
SRR	63826	broad.mit.edu	37	17	2222174	2222174	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:2222174C>G	ENST00000344595.5	+	4	668	c.350C>G	c.(349-351)gCa>gGa	p.A117G	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	117					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	p.A117G(1)		NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAAAAACTTGCAATACAAGCC	0.438000													57	95					0	0	0.139131	0	0
SPATA17	128153	broad.mit.edu	37	1	217975148	217975148	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:217975148G>C	ENST00000366933.4	+	9	1016	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	321						cytoplasm	calmodulin binding	p.E321Q(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTACAAAGAACAATTCCG	0.294000													13	51					0	0	0.093190	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737520	62737520	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:62737520A>C	ENST00000369768.1	-	1	1004	c.665T>G	c.(664-666)gTg>gGg	p.V222G		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	222						plasma membrane	opioid receptor activity|protein binding	p.V222G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CACGGGCAGCACGAAGCCCAG	0.657000													8	19					0	0	0.069234	0	0
CTAGE5	4253	broad.mit.edu	37	14	39783995	39783995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:39783995C>T	ENST00000553728.1	+	19	3166	c.2953C>T	c.(2953-2955)Caa>Taa	p.Q985*	CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.Q421*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.Q438*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.Q450*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.Q375*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.Q370*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.Q450*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.Q455*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.Q421*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.Q421*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.Q450*														p.Q450*(1)									TCATTCTTATCAAGGGCAGGT	0.294000													19	53					0	0	0.049695	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9208	9208	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrM:9208T>C	ENST00000362079.2	+	1	2	c.2T>C	c.(1-3)aTg>aCg	p.M1T						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						ACAACACATAATGACCCACCA	0.483000													4	44					0	0	0.009096	0	0
OR4D10	390197	broad.mit.edu	37	11	59245789	59245789	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:59245789C>G	ENST00000530162.1	+	1	944	c.887C>G	c.(886-888)tCa>tGa	p.S296*		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S294*(1)|p.S296*(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGATGAAGTCAGCCATGAGG	0.428000													9	31					0	0	0.047766	0	0
TAS2R43	259289	broad.mit.edu	37	12	11244751	11244751	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:11244751G>A	ENST00000531678.1	-	1	161	c.78C>T	c.(76-78)ttC>ttT	p.F26F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	26					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity	p.F26F(2)		endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCAGTGCTATGAAGCCATTAG	0.383000													6	41					0	0	0.043863	0	0
SH3BP4	23677	broad.mit.edu	37	2	235943740	235943740	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:235943740G>A	ENST00000409212.1	+	3	601	c.94G>A	c.(94-96)Gag>Aag	p.E32K	SH3BP4_ENST00000344528.4_Missense_Mutation_p.E32K|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E32K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	32					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.E32K(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGGGTTTTCAGAGACGAGCTT	0.532000													8	36					0	0	0.038147	0	0
NAA15	80155	broad.mit.edu	37	4	140309202	140309202	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:140309202T>A	ENST00000296543.5	+	20	2888	c.2565T>A	c.(2563-2565)agT>agA	p.S855R	NAA15_ENST00000398947.1_Missense_Mutation_p.S854R|NAA15_ENST00000515576.1_Intron	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	855					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	p.S855R(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGGAGATAGTTCTGCAGAAG	0.353000													36	85					0	0	0.064281	0	0
DCAF6	55827	broad.mit.edu	37	1	168014277	168014277	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:168014277G>A	ENST00000367840.3	+	16	2164	c.2070G>A	c.(2068-2070)caG>caA	p.Q690Q	DCAF6_ENST00000367843.3_Silent_p.Q633Q|DCAF6_ENST00000312263.6_Silent_p.Q613Q|DCAF6_ENST00000432587.2_Silent_p.Q659Q	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	613	IQ.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	p.Q633Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTTCAGATCAGACTAGCACTG	0.453000													37	90					0	0	0.069456	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933938	73933938	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:73933938G>C	ENST00000476977.1	+	6	2496	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E269Q|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E269Q|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E301Q			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	269						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E269Q(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						CGCCATCCGAGAGCTCAAGCA	0.687000													12	45					0	0	0.093190	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79732916	79732916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:79732916C>T	ENST00000338008.5	+	3	592	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.H138Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.H138Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	138					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	p.H138Y(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAACTTAGTTCATGCAACCAA	0.358000													17	245					0	0	0.146539	0	0
TTN	7273	broad.mit.edu	37	2	179481949	179481949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179481949C>A	ENST00000589042.1	-	255	47997	c.47773G>T	c.(47773-47775)Gaa>Taa	p.E15925*	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E14284*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E6985*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E6860*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E7052*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E13357*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14284							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E13357*(2)|p.E7052*(1)|p.E6985*(1)|p.E6860*(1)		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)			TTTCCTTTTTCCAATCCGGTA	0.323000													3	6					0.004672	0.00501149	0.115264	1	0
OXR1	55074	broad.mit.edu	37	8	107763046	107763046	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:107763046G>A	ENST00000445937.1	+	16	2679	c.2418G>A	c.(2416-2418)gcG>gcA	p.A806A	OXR1_ENST00000297447.6_Silent_p.A203A|OXR1_ENST00000312046.6_Silent_p.A799A|OXR1_ENST00000442977.2_Silent_p.A834A|OXR1_ENST00000452423.2_Silent_p.A254A|OXR1_ENST00000517566.2_Silent_p.A833A|OXR1_ENST00000531443.1_Silent_p.A806A|OXR1_ENST00000449762.2_Silent_p.A176A|OXR1_ENST00000521592.1_Silent_p.A79A	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	834	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.A834A(1)|p.A718A(1)|p.A203A(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GAGAATTTGCGCTTTGGCTTG	0.323000													25	115					0	0	0.091800	0	0
CCDC12	151903	broad.mit.edu	37	3	46963564	46963564	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:46963564T>G	ENST00000425441.1	-	9	748	c.523A>C	c.(523-525)Acc>Ccc	p.T175P	CCDC12_ENST00000292314.2_Missense_Mutation_p.T175P|CCDC12_ENST00000546280.1_Missense_Mutation_p.T162P	NM_001277074.1	NP_001264003.1	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	162								p.T162P(1)		endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		GAGTCACAGGTCTTTTGTTCG	0.617000													4	14					0	0	0.014758	0	0
PCCB	5096	broad.mit.edu	37	3	136045670	136045670	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:136045670G>C	ENST00000471595.1	+	11	1134	c.1116G>C	c.(1114-1116)gtG>gtC	p.V372V	PCCB_ENST00000482086.1_Silent_p.V256V|PCCB_ENST00000466072.1_Silent_p.V392V|PCCB_ENST00000483687.1_Silent_p.V353V|PCCB_ENST00000468777.1_Silent_p.V403V|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000462637.1_Silent_p.V349V|PCCB_ENST00000251654.4_Silent_p.V372V|PCCB_ENST00000469217.1_Silent_p.V392V|PCCB_ENST00000490504.1_Silent_p.V315V			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	372	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	p.V372V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ATTCATCTGTGAAAGGGGCTC	0.408000													44	208					0	0	0.117977	0	0
NEMF	9147	broad.mit.edu	37	14	50255908	50255908	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:50255908G>A	ENST00000298310.5	-	28	3300	c.2851C>T	c.(2851-2853)Cat>Tat	p.H951Y	NEMF_ENST00000545773.1_Missense_Mutation_p.H909Y|NEMF_ENST00000382135.2_Missense_Mutation_p.H151Y|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.H930Y			O60524	NEMF_HUMAN	nuclear export mediator factor	951						cytoplasm|nucleus		p.H951Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TGTAACTCATGAGTTATAACC	0.443000													53	169					0	0	0.139131	0	0
INO80D	54891	broad.mit.edu	37	2	206884568	206884568	+	Splice_Site	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:206884568T>A	ENST00000403263.1	-	7	1704	c.1300A>T	c.(1300-1302)Ata>Tta	p.I434L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	434					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.I434L(1)|p.I329L(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTCCGGCTTATGCTAAGGAAA	0.418000													7	36					0	0	0.029380	0	0
TTN	7273	broad.mit.edu	37	2	179605584	179605584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179605584C>T	ENST00000589042.1	-	48	12600	c.12376G>A	c.(12376-12378)Gaa>Aaa	p.E4126K	TTN_ENST00000591111.1_Missense_Mutation_p.E3809K|TTN_ENST00000359218.5_Missense_Mutation_p.E3888K|TTN_ENST00000460472.2_Missense_Mutation_p.E3763K|TTN_ENST00000342175.6_Missense_Mutation_p.E3955K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3809							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3888K(1)		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)			CTGGTGCTTTCAGGAGTGAGC	0.448000													38	146					0	0	0.086207	0	0
CUL9	23113	broad.mit.edu	37	6	43156401	43156401	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:43156401G>C	ENST00000252050.4	+	8	2212	c.2128G>C	c.(2128-2130)Gag>Cag	p.E710Q	CUL9_ENST00000372647.2_Missense_Mutation_p.E710Q|CUL9_ENST00000354495.3_Missense_Mutation_p.E600Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	710					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.E710Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCAGGCTGTGGAGGAGGTCAC	0.577000													15	22					0	0	0.119110	0	0
OR2F2	135948	broad.mit.edu	37	7	143633147	143633147	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:143633147C>G	ENST00000408955.2	+	1	889	c.822C>G	c.(820-822)atC>atG	p.I274M		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I274M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AGAAGCTGATCTCTGTCTTCT	0.483000													23	78					0	0	0.083992	0	0
ZNF418	147686	broad.mit.edu	37	19	58438051	58438051	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:58438051G>A	ENST00000396147.1	-	4	1789	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	ZNF418_ENST00000425570.3_Missense_Mutation_p.H521Y|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.H500Y|ZNF418_ENST00000599852.1_Missense_Mutation_p.H415Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H500Y(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACTCTCTGATGAACACGAAAC	0.448000													150	94					0	0	0.139131	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900411	34900411	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:34900411C>A	ENST00000246535.3	+	4	729	c.682C>A	c.(682-684)Caa>Aaa	p.Q228K	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	228						cytoplasm		p.Q228K(1)		breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GTTGCTTTCCCAAAGGTGAGG	0.507000													4	44					0.00909568	0.00968956	0.009096	1	0
HAUS6	54801	broad.mit.edu	37	9	19082988	19082988	+	Missense_Mutation	SNP	C	C	G	rs146901356		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:19082988C>G	ENST00000380502.3	-	8	1220	c.753G>C	c.(751-753)gaG>gaC	p.E251D	HAUS6_ENST00000380496.1_Missense_Mutation_p.E115D	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	251					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.E251D(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAACTTCTCTCTCTTTTTCCA	0.353000													19	36					0	0	0.049695	0	0
ANKRD35	148741	broad.mit.edu	37	1	145558885	145558885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:145558885C>G	ENST00000355594.4	+	7	591	c.504C>G	c.(502-504)atC>atG	p.I168M	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	168								p.I168M(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACGCAGCTATCTGCTCACAGC	0.572000													26	90					0	0	0.091800	0	0
CAND2	23066	broad.mit.edu	37	3	12858016	12858016	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:12858016T>A	ENST00000456430.2	+	10	1626	c.1585T>A	c.(1585-1587)Tgt>Agt	p.C529S	CAND2_ENST00000295989.5_Missense_Mutation_p.C436S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	529					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.C436S(1)|p.C529S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGTGATGGCCTGTGTGGCTGA	0.647000													3	37					0	0	0.115264	0	0
CD97	976	broad.mit.edu	37	19	14516631	14516631	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:14516631C>T	ENST00000242786.5	+	14	1781	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	CD97_ENST00000357355.3_Silent_p.L518L|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.L474L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	567					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.L567L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTGCATCCTCACTTTCCTGC	0.632000													23	79					0	0	0.116897	0	0
VIM	7431	broad.mit.edu	37	10	17277345	17277345	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:17277345G>C	ENST00000544301.1	+	7	1599	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	VIM_ENST00000224237.5_Missense_Mutation_p.E396Q	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	396	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	p.E396Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTGACATTGAGATTGCCAC	0.507000													14	56					0	0	0.119110	0	0
ABCA1	19	broad.mit.edu	37	9	107547853	107547853	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:107547853C>G	ENST00000374736.3	-	49	6863	c.6469G>C	c.(6469-6471)Gat>Cat	p.D2157H		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2157					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.D2157H(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCAAAGAAATCCTGGACAGGC	0.438000													33	79					0	0	0.059317	0	0
MASTL	84930	broad.mit.edu	37	10	27459817	27459817	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:27459817G>A	ENST00000375946.4	+	8	2532	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Silent_p.L643L|MASTL_ENST00000342386.6_Silent_p.L643L	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	643	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	p.L643L(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGAGGTGCTGAAAACGTTAG	0.398000													28	84					0	0	0.108266	0	0
MED24	9862	broad.mit.edu	37	17	38187864	38187864	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:38187864C>G	ENST00000394126.1	-	10	1487	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	MED24_ENST00000394127.2_Missense_Mutation_p.E319Q|MED24_ENST00000501516.3_Missense_Mutation_p.E351Q|MED24_ENST00000356271.3_Missense_Mutation_p.E319Q|MED24_ENST00000394128.2_Missense_Mutation_p.E332Q			O75448	MED24_HUMAN	mediator complex subunit 24	332					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.E332Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TTGACATCCTCAGTGAAGTCC	0.567000													17	69					0	0	0.038395	0	0
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	RNA	DEL	A	A	-			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373													2	4	---	---	---	---					
DAOA-AS1	282706	broad.mit.edu	37	13	106148132	106148132	+	RNA	DEL	T	T	-			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr13:106148132delT	ENST00000448407.1	-	0	100					NR_040247.1																						ccttccttcctttcttccttc	0.358													4	3	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81253526	81253527	+	RNA	INS	-	-	TTATT	rs140827348	by1000genomes	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:81253526_81253527insTTATT	ENST00000337114.4	-	0	301				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ttagacatgaattatttaatcc	0.391													4	4	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	111052	111052	+	RNA	DEL	C	C	-			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr18:111052delC	ENST00000608049.1	+	0	389					NR_033770.1																						ctaggttcagcctacaggagc	0.488													2	4	---	---	---	---					
