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
SRMS	6725	broad.mit.edu	37	20	62172641	62172641	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr20:62172641C>G	uc002yfi.1	-	6	1229	c.1188G>C	c.(1186-1188)gaG>gaC	p.E396D		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	396	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity	p.E396D(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AATTGGCCGCCTCAGGCGCTG	0.617000													45	229					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:7578526C>A	uc002gim.2	-	4	598	c.404G>T	c.(403-405)tGc>tTc	p.C135F	TP53_uc002gig.1_Missense_Mutation_p.C135F|TP53_uc002gih.3_Missense_Mutation_p.C135F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C3F|TP53_uc010cnf.1_Missense_Mutation_p.C3F|TP53_uc002gii.1_Missense_Mutation_p.C3F|TP53_uc010cni.1_Missense_Mutation_p.C135F|TP53_uc010cnh.1_Missense_Mutation_p.C135F|TP53_uc002gij.2_Missense_Mutation_p.C135F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C42F|TP53_uc002gio.2_Missense_Mutation_p.C3F|TP53_uc010vug.2_Missense_Mutation_p.C96F	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135Y(113)|p.C135F(82)|p.C135W(22)|p.C135S(19)|p.F134L(17)|p.F134V(10)|p.C135R(9)|p.C135fs*35(9)|p.0?(8)|p.C135G(7)|p.C135*(7)|p.F134C(6)|p.C135C(5)|p.C135fs*9(4)|p.C42Y(4)|p.C3Y(4)|p.F134S(3)|p.C135fs*14(3)|p.F134_T140>S(2)|p.K132_A138delKMFCQLA(2)|p.S127_Q136del10(2)|p.C135T(2)|p.C135fs*15(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.C3F(2)|p.C42F(2)|p.C135_T140delCQLAKT(2)|p.F134F(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.F134fs*14(1)|p.Q136fs*13(1)|p.F134fs*39(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		GGCCAGTTGGCAAAACATCTT	0.572000		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)			23	30					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482170G>A	uc003brt.3	+	7	1033	c.598G>A	c.(598-600)Gag>Aag	p.E200K	SETD5_uc003brs.1_Missense_Mutation_p.E181K|SETD5_uc003bru.3_Missense_Mutation_p.E102K|SETD5_uc003brv.3_Missense_Mutation_p.E89K|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	200								p.E200K(1)|p.E102K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTAGATGAGAATACAAC	0.433000													15	39					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59564611	59564611	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:59564611T>G	uc002aga.3	-	1	413	c.41A>C	c.(40-42)cAc>cCc	p.H14P		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	14	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity	p.H14P(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTTGACATTGTGGCTTTGCCA	0.438000													62	131					0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46625305	46625305	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:46625305A>C	uc001ncy.3	-	2	1073	c.825T>G	c.(823-825)gaT>gaG	p.D275E		NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	275						cytoplasm|nucleus	metal ion binding|nuclease activity	p.D275E(2)		large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCTTGGATCCATCCAGGCAGC	0.517000													15	33					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97564128	97564128	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:97564128T>C	uc001drv.3	-	20	2820	c.2683A>G	c.(2683-2685)Att>Gtt	p.I895V		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	895					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.I895V(3)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCAGTCTAATCTTGTTTTCT	0.363000													68	131					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78426887	78426887	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:78426887A>G	uc004edg.1	+	0	419	c.383A>G	c.(382-384)gAc>gGc	p.D128G		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	128						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D128G(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CGCTTCCATGACTGCAAACAG	0.458000										HNSCC(63;0.18)			124	63					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507194	155507194	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:155507194T>G	uc003iod.1	-	4	1445	c.1387A>C	c.(1387-1389)Aaa>Caa	p.K463Q	FGA_uc003ioe.1_Missense_Mutation_p.K463Q|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	463					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.K463Q(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTAACGGTTTTAGAGCATGAA	0.468000													133	312					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5787682	5787682	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:5787682C>T	uc002mdc.3	-	5	1227	c.1130G>A	c.(1129-1131)tGt>tAt	p.C377Y	PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Missense_Mutation_p.C135Y	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	377					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	p.C377Y(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGCTCGGCACACTTGGTCAT	0.627000													64	139					0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86662648	86662648	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662648G>A	uc001pce.3	-	1	1463	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	384					Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity	p.L384F(2)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGCATCGAGATTTTGGTTT	0.483000													10	150					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45695169	45695169	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695169G>T	uc001zve.3	+	0	651	c.542G>T	c.(541-543)cGt>cTt	p.R181L	BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	181						cytoplasm	ATP binding|nucleoside-triphosphatase activity	p.R181L(2)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GTCACCCCTCGTACCCGCGTC	0.736000													3	23					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10933278	10933278	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:10933278G>C	uc002rau.3	-	4	535	c.397C>G	c.(397-399)Cag>Gag	p.Q133E	PDIA6_uc010yjg.2_Missense_Mutation_p.Q130E|PDIA6_uc002rav.3_Missense_Mutation_p.Q185E|PDIA6_uc010yjh.2_Missense_Mutation_p.Q138E|PDIA6_uc002raw.3_Missense_Mutation_p.Q181E	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	133	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.Q133E(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TTCACGAGCTGGCGCAGAGCA	0.522000													18	68					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123805397	123805397	+	Silent	SNP	C	C	T	rs151322743	byFrequency	TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:123805397C>T	uc004bkv.3	-	2	336	c.306G>A	c.(304-306)gtG>gtA	p.V102V	C5_uc010mvm.1_Silent_p.V102V|C5_uc010mvn.1_Silent_p.V102V	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	102					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.V102V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTTCCAAATACACATAAGAAA	0.299000													23	80					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152158951	152158951	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:152158951T>G	uc022chn.1	-	0	1192	c.1192A>C	c.(1192-1194)Agt>Cgt	p.S398R	PNMA5_uc010ntx.3_Missense_Mutation_p.S398R|PNMA5_uc010ntw.3_Missense_Mutation_p.S398R|PNMA5_uc004fgy.4_Missense_Mutation_p.S398R|PNMA5_uc022chm.1_Missense_Mutation_p.S398R	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	398					apoptosis			p.S398R(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTTTCACTGCCTAACAGC	0.597000													74	42					0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86662613	86662613	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662613G>A	uc001pce.3	-	1	1498	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	395					Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity	p.L395L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATAAGTAAAGAGGGGAGCCA	0.453000													8	182					0	0	1	0	0
RNF149	284996	broad.mit.edu	37	2	101924707	101924707	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:101924707C>T	uc002taz.2	-	0	472	c.344G>A	c.(343-345)cGt>cAt	p.R115H	RNF149_uc002tax.2_Non-coding_Transcript	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	Homo sapiens ring finger protein 149 (RNF149), mRNA.	115	PA.					integral to membrane	ligase activity|zinc ion binding	p.R115H(3)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCAGCCCCCACGAGCCACCAG	0.726000													4	5					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142773862	142773862	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:142773862C>T	uc003evh.1	+	26	2951	c.2852C>T	c.(2851-2853)tCg>tTg	p.S951L	U2SURP_uc003evi.1_Missense_Mutation_p.S542L|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.S950L	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	951	Arg/Ser-rich.				RNA processing	nucleus	RNA binding|nucleotide binding	p.S951L(3)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TCACCAAAATCGGAGCGATCA	0.488000													10	13					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153475624	153475624	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:153475624C>T	uc002tye.3	+	13	1946	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	527	Pro-rich.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding	p.P527S(2)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGGACCCTTGCCCCCTCCTCC	0.542000													22	43					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754596	141754596	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:141754596C>T	uc003vwy.3	+	26	3256	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1068	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.L1068L(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCAGTCCCTCTGAACATACC	0.433000													118	84					0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46943652	46943652	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:46943652C>T	uc002eel.3	+	5	727	c.633C>T	c.(631-633)atC>atT	p.I211I	GPT2_uc002eem.3_Silent_p.I111I	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	211					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.I211I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGTGATGATCCCCATCCCAC	0.537000													118	81					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45695108	45695108	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695108G>A	uc001zve.3	+	0	590	c.481G>A	c.(481-483)Gct>Act	p.A161T	BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	161						cytoplasm	ATP binding|nucleoside-triphosphatase activity	p.A161T(2)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGGCCTGGTGGCTGCCTTGCA	0.711000													7	37					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140086590	140086590	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:140086590G>A	uc004clt.3	-	2	2194	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	TPRN_uc004clu.3_Missense_Mutation_p.R704C	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	704					sensory perception of sound	stereocilium		p.R426C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGCTCGCTGCGGAAGTCCGAG	0.627000													18	40					0	0	1	0	0
TFAM	7019	broad.mit.edu	37	10	60148567	60148567	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr10:60148567G>A	uc001jkf.3	+	3	561	c.429G>A	c.(427-429)atG>atA	p.M143I	TFAM_uc001jkg.3_Non-coding_Transcript	NM_003201	NP_003192	Q00059	TFAM_HUMAN	Homo sapiens transcription factor A, mitochondrial (TFAM), nuclear gene encoding mitochondrial protein, mRNA.	143					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	p.M143I(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GGAAAGCTATGACAAAAAAAA	0.269000													46	83					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46622154	46622154	+	Silent	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:46622154C>G	uc002inm.3	-	0	240	c.120G>C	c.(118-120)tcG>tcC	p.S40S		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	40					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S40S(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GAATTAATGTCGACTCCTTGA	0.557000													11	126					0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18258550	18258550	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr6:18258550A>C	uc003ncr.1	-	2	425	c.232T>G	c.(232-234)Ttt>Gtt	p.F78V	DEK_uc011djf.1_Intron|DEK_uc011djg.1_Intron	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	78					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	p.F78V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GCAATTGTAAATGGCTCTCTC	0.363000			T	NUP214	AML								56	186					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101588917	101588917	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:101588917C>T	uc001thz.4	-	3	883	c.493G>A	c.(493-495)Gcg>Acg	p.A165T		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	165					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.A165T(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCACTACCGCGCCCCACAGA	0.403000													29	38					0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125647403	125647403	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:125647403C>T	uc001qcu.3	-	3	262	c.216G>A	c.(214-216)atG>atA	p.M72I	PATE2_uc010sbj.2_Missense_Mutation_p.M29I	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN	Homo sapiens prostate and testis expressed 2 (PATE2), mRNA.	72						extracellular space		p.M72I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AATAATGATACATGCTCTGCC	0.423000													33	100					0	0	1	0	0
PRM3	58531	broad.mit.edu	37	16	11367307	11367307	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:11367307G>A	uc002dat.1	-	0	146	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RMI2_uc002daq.1_Intron	NM_021247	NP_067070	Q9NNZ6	PRM3_HUMAN	Homo sapiens protamine 3 (PRM3), mRNA.	49					cell differentiation|chromosome condensation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)									ttcctcGCCCGCTGATGACAA	0.617000													7	3					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	63999825	63999825	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:63999825A>C	uc001dbf.3	+	5	1036	c.742A>C	c.(742-744)Aca>Cca	p.T248P		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	248			T -> I (in dbSNP:rs6693255).				calcium ion binding	p.T248P(2)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TGTTTCCTTCACAGTTACCAT	0.358000													64	121					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41763458	41763458	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:41763458G>A	uc010ehj.3	+	18	2447	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	AXL_uc010ehk.3_Missense_Mutation_p.V744M	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	753	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V744M(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATATCCGGGCGTGGAGAACAG	0.567000													63	137					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212251657	212251657	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:212251657C>A	uc002veg.1	-	26	3500	c.3402G>T	c.(3400-3402)gtG>gtT	p.V1134V	ERBB4_uc002veh.1_Silent_p.V1118V|ERBB4_uc010zji.1_Silent_p.V1124V|ERBB4_uc010zjj.1_Silent_p.V1108V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1134					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V1134V(2)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGGGGCAAACACGGTGGGGT	0.522000										TSP Lung(8;0.080)			54	124					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2613235	2613235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:2613235C>A	uc003bpc.3	+	3	387	c.48C>A	c.(46-48)tgC>tgA	p.C16*	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Nonsense_Mutation_p.C16*|CNTN4_uc003bpd.1_Nonsense_Mutation_p.C16*	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	16					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	p.C16*(1)		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)		TCATTTTGTGCCTTGCAGGTA	0.393000													66	111					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141317358	141317358	+	Splice_Site	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:141317358C>T	uc011chi.2	-	10	1103	c.885_splice	c.e10-1	p.W295_splice	CLGN_uc003iii.3_Splice_Site_p.W295_splice	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	295					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.D296N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCACTTTCATCCCTGTAAATA	0.338000													63	246					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64065643	64065643	+	Silent	SNP	C	C	T	rs143683020		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:64065643C>T	uc001nzj.1	+	5	1046	c.723C>T	c.(721-723)ctC>ctT	p.L241L	KCNK4_uc001nzk.1_Missense_Mutation_p.R126W|KCNK4_uc010rnk.1_Silent_p.L69L|KCNK4_uc001nzl.1_Missense_Mutation_p.R126W|KCNK4_uc001nzm.4_Non-coding_Transcript|KCNK4_uc001nzn.1_Silent_p.L241L|KCNK4_uc001nzo.2_Silent_p.L241L|C11orf20_uc009ypm.3_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	Homo sapiens potassium channel, subfamily K, member 4 (KCNK4), mRNA.	241						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.L241L(2)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GGATCCTGCTCGGCCTGGCTT	0.637000													16	36					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9482254	9482254	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482254G>A	uc003brt.3	+	7	1117	c.682G>A	c.(682-684)Gat>Aat	p.D228N	SETD5_uc003brs.1_Missense_Mutation_p.D209N|SETD5_uc003bru.3_Missense_Mutation_p.D130N|SETD5_uc003brv.3_Missense_Mutation_p.D117N|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	228								p.D228N(1)|p.D130N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTACAGTGCAGATGTACAGAA	0.398000													8	55					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6153556	6153556	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:6153556C>A	uc001qnn.1	-	17	2593	c.2343G>T	c.(2341-2343)ctG>ctT	p.L781L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	781	Amino-terminal.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.L781L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTTCAGCCCGCAGGTTGTCAG	0.577000													3	50					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545911	151545911	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:151545911G>T	uc003eze.3	+	4	1241	c.1151G>T	c.(1150-1152)aGt>aTt	p.S384I		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	384					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.S384I(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAAAATTAGTCACAGACTT	0.348000													59	111					0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86663024	86663024	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663024G>A	uc001pce.3	-	1	1087	c.774C>T	c.(772-774)ctC>ctT	p.L258L	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	258					Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity	p.L258L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCACATACTGAGAAATATGA	0.458000													7	61					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146731533	146731533	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:146731533G>T	uc001epm.4	+	5	600	c.537G>T	c.(535-537)ttG>ttT	p.L179F	CHD1L_uc001epn.4_Missense_Mutation_p.L66F|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.L179F|CHD1L_uc010ozp.2_5'UTR|CHD1L_uc001epo.4_Intron	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	179	Helicase ATP-binding.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.L179F(3)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTCACAGGTTGAAAAACCAAA	0.358000													152	308					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1538175	1538175	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:1538175G>A	uc003skn.2	-	9	1399	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	INTS1_uc003skq.2_Missense_Mutation_p.A433V	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	433					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.A561V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCCTTGTGCGCGCTCAGCAG	0.647000													18	22					0	0	1	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63858555	63858555	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr14:63858555T>C	uc001xgd.1	-	9	1524	c.934A>G	c.(934-936)Aaa>Gaa	p.K312E	PPP2R5E_uc010tsf.1_Missense_Mutation_p.K236E|PPP2R5E_uc010tsg.1_Missense_Mutation_p.K236E|PPP2R5E_uc010tsh.1_Missense_Mutation_p.K312E|PPP2R5E_uc001xge.2_Missense_Mutation_p.K312E|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	312					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.K312E(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTACATGTTTTAGGCCAAAAT	0.333000													40	97					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874132	36874132	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:36874132C>T	uc003cgj.3	-	20	7058	c.6810G>A	c.(6808-6810)ctG>ctA	p.L2270L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2270					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.L1713L(1)|p.L1720L(1)|p.L2270L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATTTTCAAACAGAAAGTGGA	0.468000													103	98					0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57272694	57272694	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:57272694G>A	uc003hbr.3	-	2	528	c.369C>T	c.(367-369)ggC>ggT	p.G123G		NM_002703	NP_002694	Q06203	PUR1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.	123	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	p.G123G(2)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TTACCAATTCGCCATTATGTG	0.393000													81	170					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196658588	196658588	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:196658588C>G	uc001gtj.4	+	7	1243	c.1003C>G	c.(1003-1005)Cta>Gta	p.L335V	CFH_uc021pgt.1_5'Flank|CFH_uc001gti.4_Missense_Mutation_p.L335V|CFH_uc009wyw.3_Intron|CFH_uc009wyx.3_Missense_Mutation_p.L271V	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	335	Sushi 6.				complement activation, alternative pathway	extracellular space		p.L335V(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACATGGAGGTCTATATCATGA	0.308000													9	150					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135922225	135922225	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:135922225G>A	uc010fnf.3	+	22	2711	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.A890T|RAB3GAP1_uc010fng.3_Missense_Mutation_p.A715T|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	890						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	p.A890T(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGAGGACATGCTGGCAGGAT	0.488000													20	44					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9482306	9482306	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482306G>A	uc003brt.3	+	7	1169	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SETD5_uc003brs.1_Missense_Mutation_p.G226D|SETD5_uc003bru.3_Missense_Mutation_p.G147D|SETD5_uc003brv.3_Missense_Mutation_p.G134D|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	245								p.T244T(1)|p.G147D(1)|p.G245D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTGTGGGCAAACCTACT	0.408000													5	39					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50147121	50147121	+	Splice_Site	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:50147121G>A	uc003cyg.3	+	15	1453	c.1278_splice	c.e15+1	p.P426_splice	RBM5_uc011bdj.2_Splice_Site_p.P370_splice|RBM5_uc011bdk.2_Splice_Site_p.P254_splice	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	426	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	p.P426P(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGCTCTCCGGTAATCCTGT	0.463000													88	228					0	0	1	0	0
RHBDD1	84236	broad.mit.edu	37	2	227729702	227729702	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729702G>C	uc021vxo.1	+	3	817	c.293G>C	c.(292-294)aGa>aCa	p.R98T	RHBDD1_uc002voi.3_Missense_Mutation_p.R98T|RHBDD1_uc010fxc.3_Missense_Mutation_p.R98T	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	98						integral to membrane	serine-type endopeptidase activity	p.R98T(2)|p.R97I(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTAGAAAGAAGACTGGGAAGT	0.423000													8	330					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9482199	9482199	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482199G>A	uc003brt.3	+	7	1062	c.627G>A	c.(625-627)cgG>cgA	p.R209R	SETD5_uc003brs.1_Silent_p.R190R|SETD5_uc003bru.3_Silent_p.R111R|SETD5_uc003brv.3_Silent_p.R98R|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	209								p.R111R(1)|p.R209R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGAAAATCGGATAAGACTAT	0.413000													4	50					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409409	59409409	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr8:59409409G>T	uc003xtm.4	-	2	725	c.662C>A	c.(661-663)gCa>gAa	p.A221E		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	221					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.A221E(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGGGAGGCCTGCTACCAGGGC	0.493000									Neonatal Giant Cell Hepatitis				10	145					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141052581	141052581	+	Splice_Site	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr5:141052581C>A	uc003llm.3	-	7	1171	c.1093_splice	c.e7+1	p.A365_splice	ARAP3_uc011dbe.2_Splice_Site_p.A27_splice|ARAP3_uc003lln.3_Splice_Site_p.A287_splice|ARAP3_uc003llo.1_Splice_Site_p.A365_splice	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	365	PH 1.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.E364D(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCCCTCACCCTCGCTCTCTG	0.607000													3	37					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558743	61558743	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr18:61558743C>G	uc010xeu.2	+	2	398	c.65C>G	c.(64-66)gCa>gGa	p.A22G	SERPINB2_uc002ljo.3_Missense_Mutation_p.A22G	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	22					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A22G(2)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTGGCAAAAGCAAGCCCCACC	0.502000													41	36					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100630266	100630266	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:100630266C>A	uc010nno.2	-	1	342	c.109G>T	c.(109-111)Gca>Tca	p.A37S	BTK_uc004ehg.2_Missense_Mutation_p.A3S|BTK_uc010nnn.2_Missense_Mutation_p.A3S|BTK_uc004ehi.3_Missense_Mutation_p.A3S	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	3	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.A3S(3)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGAATCACTGCGGCCATAGCT	0.468000									Agammaglobulinemia, X-linked				117	62					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207195634	207195634	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:207195634C>A	uc001hfd.2	-	3	1734	c.1475G>T	c.(1474-1476)aGc>aTc	p.S492I	C1orf116_uc009xcb.1_Missense_Mutation_p.S246I|C1orf116_uc021pii.1_Missense_Mutation_p.S246I	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	492						cytoplasm|plasma membrane	receptor activity	p.S492T(2)|p.S492I(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGGTAGCTGCTCAGTCCCAC	0.542000													3	41					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9482262	9482262	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482262G>C	uc003brt.3	+	7	1125	c.690G>C	c.(688-690)caG>caC	p.Q230H	SETD5_uc003brs.1_Missense_Mutation_p.Q211H|SETD5_uc003bru.3_Missense_Mutation_p.Q132H|SETD5_uc003brv.3_Missense_Mutation_p.Q119H|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	230								p.Q230H(1)|p.Q132H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAGATGTACAGAACGCGCTTG	0.393000													11	53					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62598777	62598777	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:62598777C>T	uc010ihh.3	+	4	873	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	LPHN3_uc003hcq.4_Missense_Mutation_p.R234W|LPHN3_uc010ihg.1_Missense_Mutation_p.R302W|LPHN3_uc003hcs.1_Missense_Mutation_p.R63W	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	234	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R234W(4)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTTTGATTTGCGGACTAGGAT	0.468000													15	41					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120381668	120381668	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:120381668C>A	uc003vjj.1	+	2	2324	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	453					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.L453L(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ATGGTTTACTCAGTAATCAGC	0.358000													30	48					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350275	100350275	+	Silent	SNP	A	A	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:100350275A>G	uc003uwj.3	+	13	2712	c.2547A>G	c.(2545-2547)aaA>aaG	p.K849K	ZAN_uc003uwk.3_Silent_p.K849K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	849	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.K849K(4)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATGGAAAAACCCACCATCT	0.507000													39	71					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147130364	147130364	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:147130364G>A	uc003ewe.3	+	1	1761	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	348					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D348N(4)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TAACAGCAGCGACCGCAAGAA	0.532000													39	208					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45695158	45695158	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695158G>A	uc001zve.3	+	0	640	c.531G>A	c.(529-531)ctG>ctA	p.L177L	BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	177						cytoplasm	ATP binding|nucleoside-triphosphatase activity	p.L177L(2)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CCGCTGGGCTGGTCACCCCTC	0.731000													3	26					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10268074	10268074	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:10268074C>T	uc003bve.1	+	9	1305	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	410	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	p.T410M(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGGTCCTCACGGGCATCCCT	0.537000													26	46					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:54319248_54319249delAG	uc003gzy.3	+	15	1633_1634	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	PDGFRA_uc003haa.3_Intron|PDGFRA_uc011bzu.2_Frame_Shift_Del_p.R477fs|PDGFRA_uc003gzz.3_Frame_Shift_Del_p.R409fs|PDGFRA_uc003hab.3_Frame_Shift_Del_p.R448fs|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_Frame_Shift_Del_p.P67fs	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.R487fs*3(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	agaACGCACCAGAGAGAGAGAG	0.470			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			9	120	---	---	---	---					
GAPVD1	26130	broad.mit.edu	37	9	128122940	128122940	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:128122940delC	uc004bpp.3	+	25	4419	c.4259delC	c.(4258-4260)gccfs	p.A1420fs	GAPVD1_uc004bpq.3_Frame_Shift_Del_p.A1393fs|GAPVD1_uc010mwx.3_Frame_Shift_Del_p.A1411fs|GAPVD1_uc004bpr.3_Frame_Shift_Del_p.A1372fs|GAPVD1_uc004bps.3_Frame_Shift_Del_p.A1366fs|GAPVD1_uc004bpt.3_Frame_Shift_Del_p.A426fs	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1411	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGAGCCTGGCCAATGAGGAC	0.468													93	200	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	22022438	22022438	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr10:22022438delA	uc021pny.1	+	17	2413	c.2413delA	c.(2413-2415)actfs	p.T805fs	MLLT10_uc001iqs.3_Frame_Shift_Del_p.T821fs|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Frame_Shift_Del_p.T805fs|MLLT10_uc001ira.3_Frame_Shift_Del_p.T262fs|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	821					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTAGCTCCTACTACTGATTC	0.318			T	"""MLL, PICALM, CDK6"""	AL								31	41	---	---	---	---					
FZD4	8322	broad.mit.edu	37	11	86663230	86663231	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663230_86663231insT	uc001pce.3	-	1	880_881	c.567_568insA	c.(565-570)gatcagfs	p.D189fs	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	189					Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGATGTACTGATCAGAATTGG	0.515													7	234	---	---	---	---					
ITFG1	81533	broad.mit.edu	37	16	47189674	47189674	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189674delC	uc002eet.3	-	17	1854	c.1795delG	c.(1795-1797)gaafs	p.E599fs	ITFG1_uc010vgg.2_Frame_Shift_Del_p.E344fs|ITFG1_uc010vgh.2_3'UTR	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	599						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TGTCGTTTTTCTCTATCATCT	0.323													208	362	---	---	---	---					
DVL2	1856	broad.mit.edu	37	17	7131298	7131299	+	Frame_Shift_Ins	INS	-	G	G	rs145282702		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:7131298_7131299insG	uc002gez.1	-	9	1381_1382	c.1099_1100insC	c.(1099-1101)cgafs	p.R367fs	DVL2_uc010vtr.1_Frame_Shift_Ins_p.R361fs	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	367					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACTCACTTCGGGGGAGAGTG	0.644													14	30	---	---	---	---					
