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
OXCT2	64064	broad.mit.edu	37	1	40235523	40235523	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:40235523C>T	uc001ceb.1	-	0	1498	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	469					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	ACGGCCTTCTCGGTGATGATG	0.592												
DMRTB1	63948	broad.mit.edu	37	1	53930361	53930361	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:53930361C>T	uc001cvq.1	+	2	857	c.802C>T	c.(802-804)Ccg>Tcg	p.P268S		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	268	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						gccgccgccgccgccgccact	0.682												
SELE	6401	broad.mit.edu	37	1	169698648	169698648	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:169698648G>A	uc001ggm.4	-	5	1039	c.882C>T	c.(880-882)aaC>aaT	p.N294N	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	294	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGGCTTCTCGTTGTCCCAAT	0.458												
USH2A	7399	broad.mit.edu	37	1	215931985	215931985	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:215931985T>C	uc001hku.1	-	57	11728	c.11341A>G	c.(11341-11343)Atc>Gtc	p.I3781V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3781	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTACTGTGATATTATATGGA	0.353										HNSCC(13;0.011)		
OR2L1P	26247	broad.mit.edu	37	1	248154287	248154287	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:248154287T>C	uc001idv.1	+	0	719	c.475T>C	c.(475-477)Tgc>Cgc	p.C159R	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.									p.H158Q(1)		lung(11)	11						CTATTCGACCTGCAGCACCCA	0.498												
OR2T4	127074	broad.mit.edu	37	1	248525822	248525822	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:248525822A>T	uc001ieh.1	+	0	940	c.940A>T	c.(940-942)Act>Tct	p.T314S		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T314T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACCATCCTCACTCCAGTGGT	0.463												
GRID1	2894	broad.mit.edu	37	10	87628864	87628864	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr10:87628864A>G	uc001kdl.1	-	5	955	c.854T>C	c.(853-855)tTt>tCt	p.F285S	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	285						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I284F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGCAGACGGAAAGATTTGCCG	0.542										Multiple Myeloma(13;0.14)		
PTEN	5728	broad.mit.edu	37	10	89720664	89720664	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr10:89720664A>C	uc001kfb.3	+	7	1847	c.815A>C	c.(814-816)cAc>cCc	p.H272P	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	272	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F271S(2)|p.H272R(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.F271L(1)|p.G165_K342del(1)|p.H272Y(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAATGTTTCACTTTTGGGTA	0.269		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
KCNA4	3739	broad.mit.edu	37	11	30033088	30033088	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:30033088C>A	uc021qfi.1	-	0	1138	c.1138G>T	c.(1138-1140)Gta>Tta	p.V380L	KCNA4_uc001msk.3_Missense_Mutation_p.V380L	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	380						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						GAAAACCATACAATACAGACT	0.433												
OR5A1	219982	broad.mit.edu	37	11	59211187	59211187	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:59211187C>T	uc001nnx.1	+	0	546	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACTTCTTCTGCGACCTCCCAC	0.537												
TMEM109	79073	broad.mit.edu	37	11	60687316	60687316	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:60687316G>C	uc001nqg.3	+	1	529	c.151G>C	c.(151-153)Gtt>Ctt	p.V51L		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	51						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGAAGCCCCAGTTGATGTCTT	0.557												
RIN1	9610	broad.mit.edu	37	11	66102539	66102539	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:66102539C>T	uc001ohn.1	-	5	858	c.731G>A	c.(730-732)aGc>aAc	p.S244N	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.S139N|RIN1_uc010rpa.1_Missense_Mutation_p.S139N	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	244					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACTTTGAAGCTTCTCTTGAA	0.662												
NLRX1	79671	broad.mit.edu	37	11	119044727	119044727	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:119044727G>A	uc001pvu.3	+	4	984	c.769G>A	c.(769-771)Gga>Aga	p.G257R	NLRX1_uc010rzc.1_Missense_Mutation_p.G79R|NLRX1_uc001pvv.3_Missense_Mutation_p.G257R|NLRX1_uc001pvw.3_Missense_Mutation_p.G257R|NLRX1_uc001pvx.3_Missense_Mutation_p.G257R	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	257	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.T256T(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCAGGCACGGGACTTTGTAG	0.592												
KDM5A	5927	broad.mit.edu	37	12	402172	402172	+	Nonsense_Mutation	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:402172A>C	uc001qif.1	-	26	4982	c.4619T>G	c.(4618-4620)tTa>tGa	p.L1540*	KDM5A_uc021qsr.1_Nonsense_Mutation_p.L91*	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1540	Lys-rich.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K1540M(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTCTGCACCTAATTTTAATTT	0.378			T	NUP98	AML							
CD163	9332	broad.mit.edu	37	12	7639177	7639177	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:7639177T>A	uc001qsz.3	-	9	2504	c.2376A>T	c.(2374-2376)gaA>gaT	p.E792D	CD163_uc001qta.3_Missense_Mutation_p.E792D|CD163_uc009zfw.2_Missense_Mutation_p.E825D	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	792	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAATGCGGGATTCTTTTCCAT	0.512												
HOXC9	3225	broad.mit.edu	37	12	54396220	54396220	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:54396220C>T	uc001seq.3	+	1	641	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_006897	NP_008828	P31274	HXC9_HUMAN	Homo sapiens homeobox C9 (HOXC9), mRNA.	182					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCAGGCAACCCCGTGGCCAAC	0.577												
LRP1	4035	broad.mit.edu	37	12	57581220	57581220	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:57581220G>A	uc001snd.3	+	41	7478	c.7012G>A	c.(7012-7014)Gtt>Att	p.V2338I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2338					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGGGCCTTCGTTTTGGACGA	0.632												
LOC283392	283392	broad.mit.edu	37	12	72666636	72666636	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:72666636A>G	uc010stv.2	-	0	654	c.74T>C	c.(73-75)gTc>gCc	p.V25A	TRHDE_uc001sxa.3_Silent_p.R26R|LOC283392_uc021rat.1_5'Flank					Homo sapiens uncharacterized LOC283392 (LOC283392), transcript variant 2, non-coding RNA.																		TGGGAGTGCGACCCCGCACCA	0.687												
SBNO1	55206	broad.mit.edu	37	12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:123782584C>T	uc010tap.2	-	29	3980	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Missense_Mutation_p.G1326D|SBNO1_uc010taq.2_Missense_Mutation_p.G278D	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1327							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CACGTTTGTGCCACTGACAGA	0.428												
MTHFD1	4522	broad.mit.edu	37	14	64882182	64882182	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr14:64882182A>G	uc001xhb.3	+	4	734	c.347A>G	c.(346-348)aAt>aGt	p.N116S	MTHFD1_uc010aqe.2_Missense_Mutation_p.N152S|MTHFD1_uc010aqf.3_Missense_Mutation_p.N172S	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	116	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GAAGTGATCAATGCTATTGCA	0.383												
CCDC88C	440193	broad.mit.edu	37	14	91770270	91770270	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr14:91770270G>A	uc010aty.3	-	19	3564	c.3410C>T	c.(3409-3411)aCg>aTg	p.T1137M		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1137					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCAGCAGCGTGTACTGCGC	0.657												
OR4N3P	390539	broad.mit.edu	37	15	22413894	22413894	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr15:22413894A>T	uc001yuf.3	+	0	433	c.193A>T	c.(193-195)Atg>Ttg	p.M65L	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CTATGCAATGATGTTGGCTCT	0.502												
ATF7IP2	80063	broad.mit.edu	37	16	10527480	10527480	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:10527480G>C	uc002czw.3	+	2	1093	c.934G>C	c.(934-936)Gaa>Caa	p.E312Q	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.E312Q|ATF7IP2_uc002czv.3_Missense_Mutation_p.E312Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGTAAGTTTGGAAAGGCAAAC	0.328												
VWA3A	146177	broad.mit.edu	37	16	22137566	22137566	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:22137566C>T	uc010vbq.2	+	16	1696	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.R542W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	534	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCACTCCCTGCGGCTGCTGCT	0.512												
PLCG2	5336	broad.mit.edu	37	16	81942086	81942086	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:81942086G>A	uc002fgt.3	+	16	1801	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	PLCG2_uc010chg.1_Silent_p.T541T	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	541	SH2 1.		T -> A (in dbSNP:rs11548657).		intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGAAGAGGACGAGTGCCGAGA	0.552												
UBTF	7343	broad.mit.edu	37	17	42284949	42284949	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr17:42284949T>C	uc010czs.3	-	19	2338	c.2042A>G	c.(2041-2043)gAt>gGt	p.D681G	UBTF_uc002igc.3_Missense_Mutation_p.D644G|UBTF_uc002igd.3_Missense_Mutation_p.D644G|UBTF_uc010czt.3_Missense_Mutation_p.D681G	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	681	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		atcctcttcatcatcctcctc	0.592												
DSC2	1824	broad.mit.edu	37	18	28671015	28671015	+	Silent	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:28671015A>C	uc002kwl.4	-	3	904	c.450T>G	c.(448-450)ggT>ggG	p.G150G	DSC2_uc002kwk.4_Silent_p.G150G	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	150	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTGGAAAAGGACCCAAGGAGT	0.408												
DSG3	1830	broad.mit.edu	37	18	29046498	29046498	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:29046498A>T	uc002kws.3	+	10	1526	c.1417A>T	c.(1417-1419)Acg>Tcg	p.T473S		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	473	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.T473T(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TACAGAATACACGGGTAAAAC	0.358												
NEDD4L	23327	broad.mit.edu	37	18	55916158	55916158	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:55916158delT	uc002lgy.3	+	3	515	c.232delT	c.(232-234)tttfs	p.F78fs	NEDD4L_uc002lgz.3_Frame_Shift_Del_p.F78fs|NEDD4L_uc002lgx.3_Frame_Shift_Del_p.F78fs|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhf.3_5'UTR|NEDD4L_uc010dpl.2_Non-coding_Transcript|NEDD4L_uc002lhg.3_5'UTR|NEDD4L_uc002lhh.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	78	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.E77Q(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GAATGAAGAATTTTATTTCAG	0.313												
CREB3L3	84699	broad.mit.edu	37	19	4171163	4171163	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:4171163C>T	uc002lzl.3	+	7	1082	c.966C>T	c.(964-966)acC>acT	p.T322T	CREB3L3_uc002lzm.3_Silent_p.T312T|CREB3L3_uc010xib.2_Silent_p.T311T|CREB3L3_uc010xic.2_Silent_p.L278L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	322					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACAGGCACCTGTGTCGCAG	0.602												
MYO1F	4542	broad.mit.edu	37	19	8616651	8616651	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:8616651G>A	uc002mkg.3	-	7	882	c.744C>T	c.(742-744)gaC>gaT	p.D248D	MYO1F_uc010xkf.2_3'UTR	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	248	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.D248D(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCTTCTGTCGTCCGTGCCGT	0.582												
JAK3	3718	broad.mit.edu	37	19	17937673	17937673	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:17937673C>T	uc002nhn.4	-	23	3354	c.3254G>A	c.(3253-3255)cGg>cAg	p.R1085Q	JAK3_uc010ebh.3_Intron	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	1085	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GAATGATGGCCGGTCCTGTGG	0.632		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""							
PAK4	10298	broad.mit.edu	37	19	39665625	39665625	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:39665625T>C	uc002okj.1	+	6	1614	c.1153T>C	c.(1153-1155)Tac>Cac	p.Y385H	PAK4_uc002okl.1_Missense_Mutation_p.Y385H|PAK4_uc002okn.1_Missense_Mutation_p.Y385H|PAK4_uc002okm.1_Missense_Mutation_p.Y232H|PAK4_uc002oko.1_Missense_Mutation_p.Y232H|PAK4_uc002okp.1_Missense_Mutation_p.Y295H	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	385	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GTACAACAGCTACCTGGTGGG	0.617												
ZNF8	7554	broad.mit.edu	37	19	58805490	58805490	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:58805490G>A	uc002qry.1	+	3	446	c.316G>A	c.(316-318)Gca>Aca	p.A106T	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TGAAAGCCAAGCATCACGCAA	0.542												
MERTK	10461	broad.mit.edu	37	2	112785992	112785992	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:112785992A>G	uc002thk.1	+	18	2673	c.2551A>G	c.(2551-2553)Agg>Ggg	p.R851G	MERTK_uc002thl.1_Missense_Mutation_p.R675G	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	851	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTCAGTATTGAGGCTGCAGCT	0.453												
TTN	7273	broad.mit.edu	37	2	179594237	179594237	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:179594237C>T	uc021vsy.1	-	60	15139	c.14914G>A	c.(14914-14916)Gtg>Atg	p.V4972M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1633M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5899	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGCTCCACGTCACTATAT	0.448												
PIKFYVE	200576	broad.mit.edu	37	2	209153464	209153464	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:209153464C>T	uc002vcz.3	+	6	991	c.833C>T	c.(832-834)cCa>cTa	p.P278L	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P278L|PIKFYVE_uc002vcw.3_Missense_Mutation_p.P278L|PIKFYVE_uc002vcv.3_Missense_Mutation_p.P181L|PIKFYVE_uc002vcx.3_Missense_Mutation_p.P192L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	278					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGATTCATCCAGATTCCTCA	0.343												
COL4A4	1286	broad.mit.edu	37	2	227942664	227942664	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942664C>T	uc021vxr.1	-	23	2034	c.1933G>A	c.(1933-1935)Gga>Aga	p.G645R	COL4A4_uc021vxs.1_Missense_Mutation_p.G645R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	645	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGAACTCCTGGGTGGCCT	0.532												
COL4A4	1286	broad.mit.edu	37	2	227942679	227942679	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942679C>T	uc021vxr.1	-	23	2019	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	COL4A4_uc021vxs.1_Missense_Mutation_p.E640K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	640	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGCCTCGCTCTCCTGGTGGA	0.552												
COL4A4	1286	broad.mit.edu	37	2	227942699	227942699	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942699C>T	uc021vxr.1	-	23	1999	c.1898G>A	c.(1897-1899)gGa>gAa	p.G633E	COL4A4_uc021vxs.1_Missense_Mutation_p.G633E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	633	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAGGAAATCCCAGTCCTGG	0.602												
BPI	671	broad.mit.edu	37	20	36964027	36964027	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr20:36964027C>T	uc002xib.2	+	13	1438	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	459					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TTCCCTCTCCCGACGCCGGCC	0.557												
TTPAL	79183	broad.mit.edu	37	20	43118147	43118147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr20:43118147C>T	uc002xmc.1	+	5	1118	c.994C>T	c.(994-996)Cga>Tga	p.R332*	TTPAL_uc002xmd.1_Nonsense_Mutation_p.R332*|TTPAL_uc010ggr.1_Nonsense_Mutation_p.R145*	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	332						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CGACTCCTTGCGAGCTGTGAA	0.547												
RIPK4	54101	broad.mit.edu	37	21	43162031	43162031	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr21:43162031A>T	uc002yzn.1	-	7	1370	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	441						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.L441L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGGTGCAGCAGGCTGGCACC	0.637												
LAMP3	27074	broad.mit.edu	37	3	182871533	182871533	+	Silent	SNP	G	G	A	rs140803277	by1000genomes	TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:182871533G>A	uc003flh.4	-	1	920	c.696C>T	c.(694-696)aaC>aaT	p.N232N		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	232					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTCTGCTTCCGTTTAGAACCT	0.502												
EPHB3	2049	broad.mit.edu	37	3	184295702	184295702	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:184295702G>A	uc003foz.3	+	7	2093	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	552						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGGCCCAGCAGCTCCAGGAGC	0.637												
C3orf70	285382	broad.mit.edu	37	3	184870498	184870498	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:184870498G>A	uc003fpd.3	-	0	305	c.114C>T	c.(112-114)tgC>tgT	p.C38C		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	Homo sapiens chromosome 3 open reading frame 70 (C3orf70), mRNA.	38										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ACAGCCCGTCGCACGGCTGGA	0.642												
LIAS	11019	broad.mit.edu	37	4	39462478	39462478	+	Silent	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr4:39462478C>A	uc003guf.3	+	1	187	c.114C>A	c.(112-114)ctC>ctA	p.L38L	RPL9_uc003gub.3_5'Flank|RPL9_uc003guc.3_5'Flank|RPL9_uc011byk.2_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.4_Silent_p.L38L|LIAS_uc011bym.2_Silent_p.L38L|LIAS_uc003gug.3_Silent_p.L38L	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	AAAAGGAACTCCTACAGAATG	0.398												
FBN2	2201	broad.mit.edu	37	5	127674667	127674667	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:127674667C>A	uc003kuu.3	-	25	3869	c.3430G>T	c.(3430-3432)Gaa>Taa	p.E1144*	FBN2_uc003kuv.2_Nonsense_Mutation_p.E1111*	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1144	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.E1144K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATAGCCTTCGAAGCACTCG	0.507												
ADAMTS19	171019	broad.mit.edu	37	5	128862027	128862027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:128862027C>T	uc003kvb.1	+	3	946	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	316					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAGAGGGAAACGATATTCATA	0.398												
PCDHAC2	56143	broad.mit.edu	37	5	140203028	140203028	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:140203028C>T	uc003lhl.2	+	0	1668	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.D556D|PCDHAC2_uc003lhj.1_Silent_p.D556D	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	571	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.706												
PCDHB5	26167	broad.mit.edu	37	5	140515027	140515027	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:140515027C>T	uc003liq.3	+	0	228	c.11C>T	c.(10-12)gCg>gTg	p.A4V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAGACTGCGCTAGCAAAA	0.458												
DDX41	51428	broad.mit.edu	37	5	176941751	176941751	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:176941751G>C	uc003mho.3	-	8	907	c.886C>G	c.(886-888)Ctc>Gtc	p.L296V	DDX41_uc003mhn.3_Missense_Mutation_p.L165V|DDX41_uc003mhp.3_Missense_Mutation_p.L165V|DDX41_uc003mhq.1_Missense_Mutation_p.L76V	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	296	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAATGCAGAGGGCGCAGCGC	0.662												
MAML1	9794	broad.mit.edu	37	5	179201198	179201198	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:179201198A>C	uc003mkm.3	+	4	2634	c.2371A>C	c.(2371-2373)Acc>Ccc	p.T791P	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	791					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCAGAACACCTCCGTCTC	0.592												
GTF3C6	112495	broad.mit.edu	37	6	111288823	111288823	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr6:111288823G>T	uc003pum.3	+	5	682	c.472G>T	c.(472-474)Gat>Tat	p.D158Y		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 6, alpha 35kDa (GTF3C6), mRNA.	158						transcription factor TFIIIC complex	DNA binding|protein binding	p.P157Q(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TTCAGCCCCAGATAAATCTTT	0.383												
NMBR	4829	broad.mit.edu	37	6	142409496	142409496	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr6:142409496G>A	uc003qiu.3	-	0	441	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	100					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	p.V99L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGCGCGAGGCGTCCACCGGGA	0.592												
HECW1	23072	broad.mit.edu	37	7	43351508	43351508	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:43351508C>T	uc003tid.1	+	3	779	c.174C>T	c.(172-174)caC>caT	p.H58H	HECW1_uc011kbi.1_Silent_p.H58H|HECW1_uc003tie.1_Silent_p.H90H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	58					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCGGCCCCCACGATGGCGTCA	0.632												
EGFR	1956	broad.mit.edu	37	7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:55223543C>T	uc003tqk.3	+	7	1156	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	304					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGACAGATCACGGCTCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
FZD9	8326	broad.mit.edu	37	7	72849307	72849307	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:72849307G>A	uc003tyb.3	+	0	1199	c.970G>A	c.(970-972)Ggc>Agc	p.G324S		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	324					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTACTACTTCGGCATGGCCAG	0.657												
SEMA3E	9723	broad.mit.edu	37	7	82997104	82997104	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:82997104C>A	uc003uhy.2	-	16	2747	c.2126G>T	c.(2125-2127)tGg>tTg	p.W709L	SEMA3E_uc022agy.1_Missense_Mutation_p.W649L	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	709					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCCTTGTACCATGGTTTTGC	0.463												
CYP3A7	1577	broad.mit.edu	37	7	99261679	99261679	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:99261679T>G	uc003urq.3	-	7	812	c.710A>C	c.(709-711)aAt>aCt	p.N237T	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.N124T|CYP3A7_uc011kiy.2_Missense_Mutation_p.N227T|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	237					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAGAGAGACATTTAATGCTTC	0.328												
ASZ1	136991	broad.mit.edu	37	7	117067470	117067470	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:117067470G>A	uc003vjb.2	-	0	108	c.45C>T	c.(43-45)ggC>ggT	p.G15G	ASZ1_uc011kno.1_Silent_p.G15G|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	15					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGCTACTCTCGCCTCCGCCAG	0.662											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
CHPF2	54480	broad.mit.edu	37	7	150934492	150934492	+	Silent	SNP	C	C	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:150934492C>G	uc003wjr.1	+	3	2557	c.1044C>G	c.(1042-1044)ccC>ccG	p.P348P	CHPF2_uc003wjq.1_Silent_p.P340P|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	348						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGCTGACCCCCGAAGGGGAGG	0.627												
RP1L1	94137	broad.mit.edu	37	8	10469501	10469501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:10469501G>A	uc003wtc.3	-	3	2336	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	703					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGAATATCGTGGCACTGAG	0.617												
BLK	640	broad.mit.edu	37	8	11406564	11406564	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:11406564G>A	uc003wty.3	+	4	882	c.301G>A	c.(301-303)Gtc>Atc	p.V101I		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	101	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.V101I(2)|p.L100L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAGGTCACTCGTCACAGGAAG	0.592												
SPATC1	375686	broad.mit.edu	37	8	145095802	145095802	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:145095802G>A	uc011lkw.2	+	2	1202	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	SPATC1_uc011lkx.2_Missense_Mutation_p.R367Q	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	367										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCTTCCCGAATGCATAAT	0.642												
PIP5KL1	138429	broad.mit.edu	37	9	130689473	130689473	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr9:130689473G>A	uc011mao.2	-	6	654	c.609C>T	c.(607-609)gtC>gtT	p.V203V	PIP5KL1_uc004bsu.3_5'UTR	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.	203	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CGCTCTGCATGACGATGAAGT	0.697												
MAGEC3	139081	broad.mit.edu	37	X	140983301	140983301	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrX:140983301G>A	uc011mwp.2	+	5	1079	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	MAGEC3_uc004fbs.3_Intron|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	360	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGATGGCCGCCGAGGGCTG	0.607												
ARHGAP4	393	broad.mit.edu	37	X	153175809	153175809	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrX:153175809C>T	uc004fjk.2	-	16	2030	c.1972G>A	c.(1972-1974)Gtg>Atg	p.V658M	ARHGAP4_uc011mzf.2_Missense_Mutation_p.V635M|ARHGAP4_uc004fjl.2_Missense_Mutation_p.V698M|ARHGAP4_uc010nup.2_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	658	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGAAGCACACGGCCAGGTTG	0.677												
PCDH11Y	83259	broad.mit.edu	37	Y	4966872	4966872	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrY:4966872C>T	uc004fqo.3	+	1	1987	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	PCDH11Y_uc010nwg.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fql.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqm.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqn.1_Missense_Mutation_p.T418M|PCDH11Y_uc004fqp.1_Missense_Mutation_p.T189M	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	418	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T407M(1)|p.T418M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATAACTGTGACGGATAAGGAT	0.413												
