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
RFTN1	23180	broad.mit.edu	37	3	16411644	16411644	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:16411644G>A	ENST00000334133.4	-	6	1241	c.969C>T	c.(967-969)agC>agT	p.S323S	RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Silent_p.S287S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	323						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGAAGTGGTCGCTCATGTGCT	0.517000													4	182					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6982553	6982553	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr18:6982553C>T	ENST00000389658.3	-	41	5926	c.5833G>A	c.(5833-5835)Gtg>Atg	p.V1945M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1945	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCGCTGCACGGCCGCTTTC	0.552000													39	260					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80051476	80051476	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:80051476C>T	ENST00000306749.2	-	4	670	c.452G>A	c.(451-453)aGa>aAa	p.R151K		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	151	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGACCCACCTCTGAAGTCGAA	0.647000													15	83					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941399	38941399	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:38941399G>A	ENST00000302328.3	-	13	2206	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R670C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R670C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R670C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	670					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTGAAGGAACGCAAGAATGGC	0.413000													7	39					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544169	82544169	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:82544169G>T	ENST00000423517.2	-	7	13470	c.13133C>A	c.(13132-13134)gCt>gAt	p.A4378D	PCLO_ENST00000333891.8_Missense_Mutation_p.A4378D|PCLO_ENST00000437081.1_Missense_Mutation_p.A1098D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4309					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGGGGTCCAGCTGCAGCCCT	0.512000													11	50					0.0692343	0.0703979	1	1	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150381	39150381	+	Translation_Start_Site	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:39150381G>C	ENST00000391586.1	-	0	4					NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3							keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				TTATGGGTTTGATTGAAAAGA	0.522000													15	80					0	0	1	0	0
GPR52	9293	broad.mit.edu	37	1	174417676	174417676	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:174417676A>G	ENST00000367685.2	+	1	465	c.427A>G	c.(427-429)Ata>Gta	p.I143V	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	143						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTATCTTGCAATAACCAAGCC	0.408000													22	201					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187530425	187530425	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr4:187530425G>C	ENST00000441802.2	-	16	10327	c.10118C>G	c.(10117-10119)tCa>tGa	p.S3373*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3373	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTATAATTGAGTAGTGGAT	0.478000										HNSCC(5;0.00058)			6	31					0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	33892728	33892728	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:33892728G>T	ENST00000244137.6	-	12	899	c.866C>A	c.(865-867)aCc>aAc	p.T289N	PEPD_ENST00000436370.3_Missense_Mutation_p.T225N|PEPD_ENST00000397032.4_Missense_Mutation_p.T248N	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	289					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					AAAGGAGCAGGTGATGTCGGA	0.617000													7	35					0.00307968	0.00321242	1	1	0
ALDH3B1	221	broad.mit.edu	37	11	67789113	67789113	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:67789113G>A	ENST00000539229.1	+	8	835	c.719G>A	c.(718-720)gGc>gAc	p.G240D	ALDH3B1_ENST00000007633.8_Missense_Mutation_p.G240D|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.G204D|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	241					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	TTCAACGCCGGCCAGACCTGC	0.652000											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	278					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71717105	71717105	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:71717105C>T	ENST00000393695.3	-	22	5999	c.5668G>A	c.(5668-5670)Ggg>Agg	p.G1890R	NUMA1_ENST00000351960.6_Missense_Mutation_p.G754R|NUMA1_ENST00000358965.6_Missense_Mutation_p.G1876R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1890					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGGACACCCCGGCCTGGGAA	0.592000			T	RARA	APL								5	202					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176123	159176123	+	Silent	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:159176123G>C	ENST00000537147.1	+	3	1737	c.894G>C	c.(892-894)gtG>gtC	p.V298V	DARC_ENST00000368121.2_Silent_p.V300V|DARC_ENST00000368122.2_Silent_p.V298V			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	298					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGCACTGTGTGGCTACGCCCC	0.607000													35	357					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39597658	39597658	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:39597658C>T	ENST00000331256.5	+	12	1459	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		395						extracellular region	acid phosphatase activity|metal ion binding										TGAAGGAGTACGGGTATACGC	0.637000													7	81					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96166269	96166269	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr4:96166269C>T	ENST00000453304.1	-	6	1150	c.802G>A	c.(802-804)Gag>Aag	p.E268K	UNC5C_ENST00000506749.1_Missense_Mutation_p.E268K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	268	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACAGACCACTCCGTCCAGGTG	0.512000													8	60					0	0	1	0	0
EIF3C	8663	broad.mit.edu	37	16	28734621	28734621	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:28734621C>T	ENST00000331666.6	+	9	1099	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	EIF3C_ENST00000564243.1_Missense_Mutation_p.R295W|EIF3C_ENST00000566501.1_Missense_Mutation_p.R305W|EIF3C_ENST00000395587.1_Missense_Mutation_p.R305W|EIF3C_ENST00000566866.1_Missense_Mutation_p.R305W			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	305						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.R305R(2)		lung(5)|skin(1)	6						GGAAAGGGTCCGGGGCGGAGT	0.537000													6	757					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132535059	132535059	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr5:132535059C>T	ENST00000265342.7	-	16	2506	c.2257G>A	c.(2257-2259)Gcg>Acg	p.A753T	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	753						extracellular region	calcium ion binding	p.A753T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGAGCCGCGTAGATGTTG	0.572000													20	67					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042352	100042352	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:100042352G>A	ENST00000324341.1	+	1	822	c.400G>A	c.(400-402)Gta>Ata	p.V134I	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCACAACAGCGTAAAAAAACA	0.483000													5	111					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30762123	30762123	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr22:30762123G>A	ENST00000405659.1	+	3	843	c.134G>A	c.(133-135)cGc>cAc	p.R45H	CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H|CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	45										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TTCCCTGACCGCATGGCCTGT	0.652000													5	218					0	0	1	0	0
NLK	51701	broad.mit.edu	37	17	26488204	26488204	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:26488204G>A	ENST00000407008.3	+	4	1381	c.663G>A	c.(661-663)ttG>ttA	p.L221L		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	221	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCACAGAATTGATGCAGAGTG	0.383000													3	29					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													6	59					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104089528	104089528	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:104089528C>T	ENST00000388887.2	+	33	3692	c.3488C>T	c.(3487-3489)gCg>gTg	p.A1163V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1163	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TATAATCTGGCGAATGCAATT	0.468000													4	86					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52260186	52260186	+	Silent	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:52260186C>G	ENST00000354831.7	-	26	3126	c.2937G>C	c.(2935-2937)ctG>ctC	p.L979L	RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000539524.1_Silent_p.L847L|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.L911L|RP4-657D16.3_ENST00000586761.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	910					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CACCCTTGTTCAGAGCTTTCA	0.547000													46	318					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29055001	29055001	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:29055001G>T	ENST00000377173.2	-	1	89	c.25C>A	c.(25-27)Cca>Aca	p.P9T		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AACTCTTTTGGGGAGCTCTCA	0.363000													5	32					1.024e-07	1.0965e-07	1	1	0
IFFO1	25900	broad.mit.edu	37	12	6657690	6657690	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:6657690G>A	ENST00000436152.2	-	8	898	c.339C>T	c.(337-339)gaC>gaT	p.D113D	IFFO1_ENST00000396840.2_Silent_p.D417D|IFFO1_ENST00000356896.4_Silent_p.D420D|IFFO1_ENST00000336604.4_Silent_p.D420D|IFFO1_ENST00000465801.1_Silent_p.D113D			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	417						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGTCACAGTCGTCCTCAAAAT	0.647000													19	107					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11526735	11526735	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:11526735C>T	ENST00000380456.3	-	5	578	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	RGL3_ENST00000393423.3_Missense_Mutation_p.R172Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	172	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CAGAAAGGTTCGGACACTGCC	0.612000													4	160					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567000													22	103					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129475783	129475783	+	Silent	SNP	T	T	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:129475783T>C	ENST00000421865.2	+	8	1210	c.1161T>C	c.(1159-1161)ggT>ggC	p.G387G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	387	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACACTGCTGGTATAAACTGCG	0.358000													8	81					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189861176	189861176	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:189861176G>A	ENST00000304636.3	+	24	1885	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R572Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	572	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCTGGTCCCCGAGGTCAGCCT	0.408000													7	33					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90362821	90362821	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:90362821C>A	ENST00000369393.3	-	94	15830	c.15715G>T	c.(15715-15717)Gac>Tac	p.D5239Y	MDN1_ENST00000428876.1_Missense_Mutation_p.D5239Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5239					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTCTGGGGTCTTGGTCTTCC	0.393000													25	194					2.27525e-19	2.48023e-19	1	1	0
SLFN12L	100506736	broad.mit.edu	37	17	33807104	33807104	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:33807104C>G	ENST00000260908.7	-	2	242	c.125G>C	c.(124-126)gGa>gCa	p.G42A	SLFN12L_ENST00000449046.1_Missense_Mutation_p.G73A|SLFN12L_ENST00000361112.4_Missense_Mutation_p.G71A	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	74						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						ATTGTTCTCTCCAAGAGTGAC	0.423000													7	39					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527123	132527123	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:132527123G>A	ENST00000331898.7	-	2	837	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	OPCML_ENST00000374778.4_Missense_Mutation_p.R46C|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.R80C|OPCML_ENST00000541867.1_Missense_Mutation_p.R87C	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	87	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATGATCACACGAGGGTCTATG	0.527000													9	93					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47243286	47243286	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr13:47243286G>A	ENST00000311191.6	+	3	803	c.574G>A	c.(574-576)Gag>Aag	p.E192K	LRCH1_ENST00000389798.3_Missense_Mutation_p.E192K|LRCH1_ENST00000389797.3_Missense_Mutation_p.E192K	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	192										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACAGTTAATGGAGCTGGTATG	0.423000													19	96					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650338	146650338	+	RNA	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:146650338G>C	ENST00000607149.1	+	0	350																											TAACAAGTTGGAGGACAAGAC	0.398000													12	64					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3076402	3076402	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:3076402C>G	ENST00000397461.1	+	16	2254	c.1870C>G	c.(1870-1872)Cac>Gac	p.H624D	CNTN4_ENST00000427331.1_Missense_Mutation_p.H624D|CNTN4_ENST00000448906.2_Missense_Mutation_p.H296D|CNTN4_ENST00000418658.1_Missense_Mutation_p.H624D|CNTN4_ENST00000358480.3_Missense_Mutation_p.H405D|CNTN4_ENST00000397459.2_Missense_Mutation_p.H296D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	624	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCTGACAACCACAGCCCCAT	0.547000													11	70					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31511215	31511215	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr5:31511215C>T	ENST00000511367.2	-	8	1603	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	DROSHA_ENST00000442743.1_Silent_p.G416G|DROSHA_ENST00000344624.3_Silent_p.G453G|DROSHA_ENST00000513349.1_Silent_p.G416G	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	453					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTTGCCTGCTCCCCAACTCCT	0.453000													11	60					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329446	88329446	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr13:88329446C>T	ENST00000325089.6	+	2	2022	c.1803C>T	c.(1801-1803)acC>acT	p.T601T	SLITRK5_ENST00000400028.3_Silent_p.T360T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	601	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCGCTGAGACCGACATGCGCT	0.557000													29	218					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931664	150931664	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:150931664C>T	ENST00000309170.3	-	3	753	c.441G>A	c.(439-441)atG>atA	p.M147I	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.M147I|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	147						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAGCATGAGCATCCATACTA	0.383000													6	92					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389495	38389495	+	RNA	SNP	C	C	A	rs2012300	by1000genomes	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:38389495C>A	ENST00000390344.2	-	0	128																											CTTAAAACTCCGGCCCCACTC	0.542000													3	38					0.00909568	0.00940664	1	1	0
PHF3	23469	broad.mit.edu	37	6	64394047	64394047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:64394047C>T	ENST00000262043.3	+	4	764	c.424C>T	c.(424-426)Cga>Tga	p.R142*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.R142*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.R142*			Q92576	PHF3_HUMAN	PHD finger protein 3	142					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.R142*(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGAAGTTTGCGACAGAGCAC	0.343000													6	211					0	0	1	0	0
TSSC4	10078	broad.mit.edu	37	11	2424709	2424709	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:2424709G>A	ENST00000333256.6	+	3	1289	c.846G>A	c.(844-846)gaG>gaA	p.E282E	TSSC4_ENST00000451491.2_Silent_p.E282E|TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000380996.5_Silent_p.E218E			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	282										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGAGGTGGAGGCACTGTCAG	0.677000													6	19					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76890140	76890140	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:76890140G>A	ENST00000373344.5	-	17	4968	c.4754C>T	c.(4753-4755)tCt>tTt	p.S1585F	ATRX_ENST00000395603.3_Missense_Mutation_p.S1547F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1585	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.S1585F(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGAACCTGGAGATTTCTTTGT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						23	156					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140550	78140550	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr14:78140550G>A	ENST00000216489.3	-	6	790	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	259	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCCCTTTGAAGACCACCCAGG	0.433000													9	46					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2818127	2818127	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2818127C>A	ENST00000301740.8	+	11	8147	c.7598C>A	c.(7597-7599)tCc>tAc	p.S2533Y	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2533	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGGCGGAGTtcctcctcgtcg	0.627000													4	41					0.150653	0.150653	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129799900	129799900	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:129799900C>T	ENST00000421865.2	+	54	7563	c.7514C>T	c.(7513-7515)cCg>cTg	p.P2505L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2505	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAAGAACTCCGTACAATATA	0.358000													39	133					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191896239	191896239	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:191896239G>A	ENST00000392320.2	-	22	2362	c.2048C>T	c.(2047-2049)tCa>tTa	p.S683L	STAT4_ENST00000358470.4_Missense_Mutation_p.S683L|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	683					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGTTGGTCTTGAAACTGGAAA	0.313000													6	27					0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233184	56233184	+	RNA	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr14:56233184C>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CAAGCGAGGCCATGCCTCCCT	0.607000													4	25					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160913955	160913955	+	RNA	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:160913955C>T	ENST00000335388.5	-	0	365					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AAGGGCCTGCCGAACAATCCG	0.502000													4	160					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817460	2817460	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2817460C>G	ENST00000301740.8	+	11	7480	c.6931C>G	c.(6931-6933)Ctc>Gtc	p.L2311V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2311	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCTCTGAGTCTCACAGGCTC	0.627000													60	485					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153580772	153580772	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:153580772C>T	ENST00000422373.1	-	40	6770	c.6522G>A	c.(6520-6522)tcG>tcA	p.S2174S	FLNA_ENST00000369850.3_Silent_p.S2182S|FLNA_ENST00000360319.4_Silent_p.S2174S|FLNA_ENST00000344736.4_Silent_p.S2142S|FLNA_ENST00000369856.3_Silent_p.S315S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2182					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGTCTTGCCCGATGGGCTGG	0.597000													4	176					0	0	1	0	0
EPPIN-WFDC6	100526773	broad.mit.edu	37	20	44166663	44166663	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr20:44166663G>A	ENST00000504988.1	-	4	530	c.462C>T	c.(460-462)tgC>tgT	p.C154C	WFDC6_ENST00000600168.1_Silent_p.C54C|WFDC6_ENST00000372670.3_Silent_p.C54C|EPPIN_ENST00000555685.1_Silent_p.C154C	NM_001198986.1	NP_001185915.1																					TGTTTTCTGGGCAATCTCTGG	0.458000													4	182					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825563	26825563	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr15:26825563G>A	ENST00000541819.2	-	7	855	c.753C>T	c.(751-753)ggC>ggT	p.G251G	GABRB3_ENST00000545868.1_Silent_p.G110G|GABRB3_ENST00000311550.5_Silent_p.G195G|GABRB3_ENST00000299267.4_Silent_p.G195G|GABRB3_ENST00000400188.3_Silent_p.G124G			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	195					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTTGTCCCCGCCTCGCCAGT	0.532000													19	87					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138617995	138617995	+	Missense_Mutation	SNP	G	G	T	rs146602445		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:138617995G>T	ENST00000251691.4	+	21	3717	c.3551G>T	c.(3550-3552)cGc>cTc	p.R1184L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1184					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CACCTGTTCCGCCTGGGGAAT	0.557000													39	193					1.57019e-19	1.72721e-19	1	1	0
IP6K3	117283	broad.mit.edu	37	6	33690701	33690701	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:33690701C>T	ENST00000451316.1	-	7	1564	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	IP6K3_ENST00000293756.4_Silent_p.P343P	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	343					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CGTGAGGATGCGGGCTGCCTG	0.552000													4	135					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569247	73569247	+	Silent	SNP	C	C	T	rs145181414		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:73569247C>T	ENST00000392550.3	+	20	2730	c.2613C>T	c.(2611-2613)ggC>ggT	p.G871G	LLGL2_ENST00000167462.5_Silent_p.G871G|LLGL2_ENST00000577200.1_Silent_p.G871G	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	871					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAACCTGGGCGACATCCAGG	0.667000													4	92					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618394	28618394	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:28618394A>G	ENST00000395609.1	-	7	1135	c.377T>C	c.(376-378)gTc>gCc	p.V126A	SULT1A1_ENST00000569554.1_Missense_Mutation_p.V126A|SULT1A1_ENST00000314752.7_Missense_Mutation_p.V126A|SULT1A1_ENST00000395607.1_Missense_Mutation_p.V126A|SULT1A1_ENST00000350842.4_Missense_Mutation_p.V48A			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	126					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGCAACATAGACCACCTGCAG	0.577000													14	95					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50658862	50658862	+	Missense_Mutation	SNP	G	G	T	rs140319105		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:50658862G>T	ENST00000252677.3	+	2	434	c.434G>T	c.(433-435)cGc>cTc	p.R145L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	145					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAACTAACTCGCTTCAATCTC	0.498000													10	68					0.000673444	0.00070858	1	1	0
SNAPC2	6618	broad.mit.edu	37	19	7987597	7987597	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:7987597C>T	ENST00000221573.6	+	5	1004	c.953C>T	c.(952-954)cCg>cTg	p.P318L	SNAPC2_ENST00000597584.1_Missense_Mutation_p.P81L	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	318					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCCCTGAACCCGTTCCTGGTG	0.697000													31	216					0	0	1	0	0
ZBTB24	9841	broad.mit.edu	37	6	109787413	109787413	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:109787413C>G	ENST00000230122.3	-	7	1902	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGGAACTCTCTGCAGTCACA	0.483000													20	129					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53045825	53045825	+	Silent	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:53045825C>G	ENST00000276480.7	-	20	3020	c.2337G>C	c.(2335-2337)gtG>gtC	p.V779V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	779						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTTTCCAGTCACGTGCCCCG	0.522000													16	99					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112621425	112621425	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:112621425C>T	ENST00000341068.3	-	9	1651	c.879G>A	c.(877-879)caG>caA	p.Q293Q		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	293					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGGCCACATTCTGTGGGGTTC	0.408000													9	44					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271591	17271591	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr10:17271591C>T	ENST00000544301.1	+	2	583	c.170C>T	c.(169-171)cCg>cTg	p.P57L	VIM_ENST00000224237.5_Missense_Mutation_p.P57L|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000485947.1_3'UTR	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	57	Head.				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			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						GCCTCGTCCCCGGGCGGCGTG	0.731000													3	15					0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137763	140137763	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:140137763G>A	ENST00000340384.4	+	4	1241	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	365					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										AAAAATGTCCGCCACCTTCAT	0.527000													5	313					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710549	14710549	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:14710549G>C	ENST00000547437.1	+	11	744	c.667G>C	c.(667-669)Gct>Cct	p.A223P	CLEC17A_ENST00000417570.1_Missense_Mutation_p.A223P|CLEC17A_ENST00000397439.2_Missense_Mutation_p.A206P	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	223						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GGCAGGGCTAGCTGGCCTGAA	0.552000													5	25					0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43961690	43961690	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr20:43961690C>T	ENST00000372733.3	-	3	258	c.219G>A	c.(217-219)atG>atA	p.M73I	SDC4_ENST00000537976.1_Start_Codon_SNP_p.M1I	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	73						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CAGGGCCGATCATGGAGTCTT	0.502000			T	ROS1	NSCLC								4	84					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112144691	112144691	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:112144691C>T	ENST00000412145.1	-	19	4579	c.2026G>A	c.(2026-2028)Gtc>Atc	p.V676I	PTPN3_ENST00000262539.3_Missense_Mutation_p.V653I|PTPN3_ENST00000446349.1_Missense_Mutation_p.V631I|PTPN3_ENST00000374541.2_Missense_Mutation_p.V807I|PTPN3_ENST00000394827.3_Missense_Mutation_p.V275I	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	807	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCCATGCGACGTACTGGAGA	0.572000													11	70					0	0	1	0	0
RRP7BP	91695	broad.mit.edu	37	22	42971987	42971987	+	RNA	SNP	T	T	C	rs137064	by1000genomes	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr22:42971987T>C	ENST00000357802.2	-	0	733																		p.Q59R(1)									CAGCTCTTTTTGGCTGCGCTT	0.672000													3	26					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35295563	35295563	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:35295563C>T	ENST00000254457.5	+	1	1480	c.69C>T	c.(67-69)gcC>gcT	p.A23A		NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	23	LIM zinc-binding 1.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TGGACAGGGCCTGGCACGTCA	0.542000													18	98					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75269680	75269680	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:75269680C>T	ENST00000546196.1	-	5	2682	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	BCAR1_ENST00000418647.3_Missense_Mutation_p.D419N|BCAR1_ENST00000542031.2_Missense_Mutation_p.D371N|BCAR1_ENST00000538440.2_Missense_Mutation_p.D373N|BCAR1_ENST00000535626.2_Missense_Mutation_p.D225N|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393420.6_Missense_Mutation_p.D391N|BCAR1_ENST00000393422.2_Missense_Mutation_p.D391N|BCAR1_ENST00000162330.5_Missense_Mutation_p.D373N|BCAR1_ENST00000420641.3_Missense_Mutation_p.D391N			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	373	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGGGCACGTCGTAGAGGTCA	0.716000													3	40					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214188	140214188	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr5:140214188C>G	ENST00000525929.1	+	1	220	c.220C>G	c.(220-222)Ctt>Gtt	p.L74V	PCDHA7_ENST00000378125.3_Missense_Mutation_p.L74V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGGGGATCTTCTGGAGGT	0.622000													52	320					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991121	39991121	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr20:39991121C>T	ENST00000332312.3	-	4	1280	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	363						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGCTCCTGGCGCAGGGCCAG	0.667000													7	31					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032364	30032364	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:30032364G>A	ENST00000328224.6	-	2	3095	c.1862C>T	c.(1861-1863)tCt>tTt	p.S621F		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	621						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGCACACAGAGATTCCTTAAC	0.453000													11	93					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75757695	75757695	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:75757695C>G	ENST00000260113.2	+	5	783	c.604C>G	c.(604-606)Cga>Gga	p.R202G	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R202G|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	202						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATCTGTGTGGCGACGTGCAGT	0.423000													10	85					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122805561	122805561	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:122805561G>C	ENST00000245838.8	-	9	851	c.820C>G	c.(820-822)Cta>Gta	p.L274V	THOC2_ENST00000355725.4_Missense_Mutation_p.L274V|THOC2_ENST00000491737.1_Missense_Mutation_p.L159V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	274					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTAAATTGTAGAAGTACTGCT	0.353000													15	72					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538218	4538218	+	Missense_Mutation	SNP	G	G	A	rs150365846	byFrequency	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:4538218G>A	ENST00000306390.6	-	2	1238	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	260						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCTGCCGCAGGCCCTGG	0.642000													5	297					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179523631	179523631	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:179523631G>C	ENST00000367615.4	-	6	842	c.774C>G	c.(772-774)atC>atG	p.I258M	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.I190M	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	258					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TCTCCACTTTGATTCCCCAAA	0.393000													17	91					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2510989	2510989	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2510989G>A	ENST00000569496.1	+	4	428	c.369G>A	c.(367-369)ccG>ccA	p.P123P	C16orf59_ENST00000361837.4_Silent_p.P123P|C16orf59_ENST00000563531.1_Silent_p.P123P|C16orf59_ENST00000483320.1_5'UTR			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	123										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCGCCCCACCGCATTCCCCAG	0.642000													4	85					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58289457	58289457	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:58289457G>A	ENST00000300896.4	-	19	2301	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	USP32_ENST00000592339.1_Missense_Mutation_p.R373C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	703					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTTTGTTGCGAACTGGAAGG	0.308000													17	62					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2818013	2818013	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2818013C>G	ENST00000301740.8	+	11	8033	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2495	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGCATGCTCTCTGTCCCTGCC	0.627000													11	72					0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67963886	67963886	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:67963886C>G	ENST00000574481.1	-	7	1307	c.746G>C	c.(745-747)cGa>cCa	p.R249P		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	249	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CTTGCTAACTCGAGTATACAC	0.542000													6	127					0	0	1	0	0
NBPF18P	441908	broad.mit.edu	37	1	151993809	151993809	+	RNA	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:151993809C>G	ENST00000432386.1	+	0	2644					NR_103561.1																						CTGAGAGCAGCTGGCTGAGGG	0.582000													3	44					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008367	41008367	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:41008367C>T	ENST00000352632.3	+	10	1242	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R386C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R386C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R386C|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R386C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	386					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCAACCGTCGCCTCTTTGT	0.607000													25	126					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138579166	138579166	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:138579166G>A	ENST00000440172.1	-	10	4002	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	KIAA1549_ENST00000242365.4_Silent_p.I1268I|KIAA1549_ENST00000422774.1_Silent_p.I1318I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1318						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCCAGTAGAGGATGACAACAA	0.547000			O	BRAF	pilocytic astrocytoma								19	117					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	69255284	69255284	+	Missense_Mutation	SNP	G	G	T	rs142948132	by1000genomes	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:69255284G>T	ENST00000374552.4	+	8	1243	c.1001G>T	c.(1000-1002)cGc>cTc	p.R334L	EDA_ENST00000374553.2_Missense_Mutation_p.R332L|EDA_ENST00000524573.1_Missense_Mutation_p.R329L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	334					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CAGTGCACACGCAGCATCGAG	0.552000													5	38					0.000602214	0.000639192	1	1	0
ZNF586	54807	broad.mit.edu	37	19	58290798	58290798	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:58290798G>A	ENST00000391702.3	+	4	1081	c.714G>A	c.(712-714)caG>caA	p.Q238Q	ZNF586_ENST00000396154.2_Silent_p.Q281Q|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_3'UTR	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCAGCATCAGAGAGTTCACA	0.433000													13	94					0	0	1	0	0
RAD52	5893	broad.mit.edu	37	12	1042191	1042191	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:1042191G>A	ENST00000358495.3	-	2	172	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C	RAD52_ENST00000541619.1_Missense_Mutation_p.R12C|RAD52_ENST00000430095.2_Missense_Mutation_p.R12C|RAD52_ENST00000544742.1_Missense_Mutation_p.R12C|RAD52_ENST00000545564.1_Missense_Mutation_p.R12C|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000536177.1_Missense_Mutation_p.R12C	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	12					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			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)			TGGCTGTCACGTCCTCCAAGA	0.448000								Homologous recombination					5	390					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20872897	20872897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr14:20872897C>T	ENST00000262715.5	-	5	945	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	302	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCACATTCCGGACGTTCAG	0.537000													4	95					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101188642	101188642	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:101188642A>G	ENST00000294728.2	+	3	508	c.407A>G	c.(406-408)aAg>aGg	p.K136R	VCAM1_ENST00000370115.1_Missense_Mutation_p.K136R|VCAM1_ENST00000347652.2_Missense_Mutation_p.K136R|VCAM1_ENST00000370119.4_Missense_Mutation_p.K74R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	136	Ig-like C2-type 2.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATCACAGTCAAGTGTTCAGTT	0.458000													5	50					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090824	147090824	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:147090824C>T	ENST00000234739.3	+	8	1603	c.863C>T	c.(862-864)tCt>tTt	p.S288F		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	288	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGATTCCTTCTGTAGGAAGT	0.617000			T	"""IGH@, IGL@"""	B-ALL								10	97					0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11078818	11078818	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:11078818C>G	ENST00000240185.3	+	4	545	c.431C>G	c.(430-432)tCa>tGa	p.S144*	TARDBP_ENST00000315091.3_Nonsense_Mutation_p.S144*|TARDBP_ENST00000439080.2_Nonsense_Mutation_p.S28*	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	144	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		ACTGGTCATTCAAAGGGGTTT	0.388000													19	151					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791379	51791379	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr15:51791379G>A	ENST00000251076.5	-	18	4329	c.4042C>T	c.(4042-4044)Cat>Tat	p.H1348Y	DMXL2_ENST00000543779.2_Missense_Mutation_p.H1348Y|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1348						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGAGTTGGATGATATTGTGGA	0.388000													22	75					0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144644852	144644852	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:144644852G>C	ENST00000526406.1	+	14	2116	c.1233G>C	c.(1231-1233)caG>caC	p.Q411H	GSDMD_ENST00000262580.4_Missense_Mutation_p.Q411H|GSDMD_ENST00000533063.1_Missense_Mutation_p.Q459H	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	411				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).						breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCTTGGAGCAGAGTGCCCCGT	0.662000													4	23					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	35					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28389948	28389948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr15:28389948G>A	ENST00000261609.7	-	72	11119	c.11011C>T	c.(11011-11013)Cga>Tga	p.R3671*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3671					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GACCACTCTCGGCCTGCGGGA	0.562000													9	44					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663451	99663451	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:99663451C>T	ENST00000373034.4	-	1	1820	c.145G>A	c.(145-147)Gcg>Acg	p.A49T	PCDH19_ENST00000255531.7_Missense_Mutation_p.A49T|PCDH19_ENST00000420881.2_Missense_Mutation_p.A49T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	49	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCGAAGCCCGCCTCTCGCGCG	0.637000													13	23					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109701361	109701361	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:109701361C>G	ENST00000277225.5	+	7	6689	c.6400C>G	c.(6400-6402)Ccg>Gcg	p.P2134A	ZNF462_ENST00000542028.1_Missense_Mutation_p.P91A|ZNF462_ENST00000457913.1_Missense_Mutation_p.P2194A|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1040A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2134					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAAAGCTACCCCGGCTGAAGA	0.537000													66	252					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													3	6	---	---	---	---					
COL9A2	1298	broad.mit.edu	37	1	40782793	40782793	+	Splice_Site	DEL	A	A	-			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:40782793delA	ENST00000372748.3	-	1	172		c.e1+1			NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TGCGAAACTTACAATCTGCGC	0.682													2	4	---	---	---	---					
C1orf173	127254	broad.mit.edu	37	1	75038152	75038153	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:75038152_75038153insT	ENST00000326665.5	-	14	3459_3460	c.3241_3242insA	c.(3241-3243)aagfs	p.K1081fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1081	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTTGCCCTTGTCACCTCTTCT	0.421													15	211	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89102271	89102274	+	RNA	DEL	AAAC	AAAC	-	rs5832743		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:89102271_89102274delAAAC	ENST00000393525.3	+	0	2745_2748																											ATGATGTCTTAAACAAACAATCAG	0.328													5	7	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)tafs	p.L123fs	CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289													7	94	---	---	---	---					
GTF2H4	2968	broad.mit.edu	37	6	30881699	30881700	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:30881699_30881700insG	ENST00000259895.4	+	14	1551_1552	c.1328_1329insG	c.(1327-1329)gacfs	p.D443fs	GTF2H4_ENST00000376316.2_Frame_Shift_Ins_p.D443fs	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	443					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTCATGGTGGTGACCCCGGCCG	0.653								Nucleotide excision repair (NER)					11	22	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													4	3	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6781178	6781178	+	RNA	DEL	A	A	-			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:6781178delA	ENST00000486256.1	+	0	1694					NR_002217.1																						actctgtttcaaaaaaaaaga	0.403													2	4	---	---	---	---					
EPPK1	83481	broad.mit.edu	37	8	144946991	144946992	+	Frame_Shift_Ins	INS	-	-	T	rs146779869	by1000genomes	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:144946991_144946992insT	ENST00000525985.1	-	2	501_502	c.430_431insA	c.(430-432)ggcfs	p.G144fs				P58107	EPIPL_HUMAN	epiplakin 1	144						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCAGGGCCCTGTCCACAACC	0.688													9	84	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971180	21971180	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:21971180delC	ENST00000579755.1	-	2	513	c.221delG	c.(220-222)gcfs	p.G75fs	CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G116fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G75fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A9fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	51					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.R58fs*59(2)|p.V59fs*82(2)|p.0(1)|p.V28_V51del(1)|p.E61fs*49(1)|p.V59fs*45(1)|p.G55fs*86(1)|p.A60fs*86(1)|p.V59_G67del(1)|p.A57fs*85(1)|p.E61fs*55(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCAGCTCCGCCACTCGGGCG	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	29	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24762778	24762779	+	In_Frame_Ins	INS	-	-	ATA			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr10:24762778_24762779insATA	ENST00000376451.2	+	2	882_883	c.622_623insATA	c.(622-624)taa>ATAtaa	p.207_208insI	KIAA1217_ENST00000430453.2_In_Frame_Ins_p.410_411insI|KIAA1217_ENST00000396446.1_In_Frame_Ins_p.207_208insI|KIAA1217_ENST00000376454.3_In_Frame_Ins_p.489_490insI|KIAA1217_ENST00000396445.1_In_Frame_Ins_p.207_208insI|KIAA1217_ENST00000376452.3_In_Frame_Ins_p.489_490insI|KIAA1217_ENST00000376462.1_In_Frame_Ins_p.409_410insI|KIAA1217_ENST00000458595.1_In_Frame_Ins_p.489_490insI|KIAA1217_ENST00000307544.6_In_Frame_Ins_p.207_208insI			Q5T5P2	SKT_HUMAN	KIAA1217	489					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCACGCTCACTATAATGCCCAC	0.554													18	169	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578461	7578462	+	Frame_Shift_Del	DEL	CG	CG	-	rs121912654		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:7578461_7578462delCG	ENST00000420246.2	-	5	600_601	c.468_469delCG	c.(466-471)cgtcfs	p.RV156fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.RV156fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RV156fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RV156fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.RV156fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RV156fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.V157fs*13(3)|p.R156R(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.G154_R156delGTR(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156del(1)|p.T155_R156delTR(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)		ATGGCGCGGACGCGGGTGCCGG	0.614		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)			37	87	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													7	18	---	---	---	---					
SBF1	6305	broad.mit.edu	37	22	50897784	50897786	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr22:50897784_50897786delCTC	ENST00000380817.2	-	28	3907_3909	c.3724_3726delGAG	c.(3724-3726)del	p.E1242del	SBF1_ENST00000390679.3_In_Frame_Del_p.E1242del|SBF1_ENST00000348911.6_In_Frame_Del_p.E1243del	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1242	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGTACTTCTCCTGCTCCAGG	0.670													10	51	---	---	---	---