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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARHGAP26	23092	broad.mit.edu	37	5	142601928	142601928	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr5:142601928C>T	uc011dbj.2	+	22	2397	c.2362C>T	c.(2362-2364)Cca>Tca	p.P788S	ARHGAP26_uc003lmt.3_Missense_Mutation_p.P733S|ARHGAP26_uc003lmw.3_Missense_Mutation_p.P696S	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	788	SH3.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACAGTTCACCCATCTCAGGA	0.552000														52			3		0	0	0.150653	0	0
CDC73	79577	broad.mit.edu	37	1	193099338	193099338	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:193099338G>A	uc001gtb.3	+	2	515	c.272G>A	c.(271-273)cGa>cAa	p.R91Q		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	91			R -> P (found in a patient with isolated hyperparathyroidism and parathyroid adenomas).		cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.R91Q(2)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGACCTGATCGAAAAGATCTA	0.294000														37			6		0	0	0.248553	0	0
FTCD	10841	broad.mit.edu	37	21	47571511	47571511	+	Silent	SNP	G	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr21:47571511G>T	uc002zig.3	-	4	641	c.597C>A	c.(595-597)atC>atA	p.I199I	FTCD_uc002zif.3_Silent_p.I199I|FTCD_uc002zih.3_Silent_p.I199I|FTCD_uc010gqf.3_Silent_p.I199I|FTCD_uc010gqg.1_Silent_p.I68I			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	199	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGTTGAGCGCGATGCGGTGGG	0.647000														60			21		1.55795e-14	1.87531e-14	0.608945	1	0
PRIC285	85441	broad.mit.edu	37	20	62203482	62203482	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr20:62203482G>A	uc002yfm.2	-	1	1149	c.257C>T	c.(256-258)tCc>tTc	p.S86F	PRIC285_uc002yfn.2_Missense_Mutation_p.S86F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	86					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CTCGAACTTGGAGAGTCCCGG	0.627000														14			4		0	0	0.150653	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716117	40716117	+	RNA	SNP	G	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr9:40716117G>C	uc010mmk.2	+	0		c.594G>C								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGTCTGCAAGAAGACGTGCA	0.527000														38			6		0	0	0.217242	0	0
FAT4	79633	broad.mit.edu	37	4	126371574	126371574	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr4:126371574G>A	uc003ifj.4	+	8	9403	c.9403G>A	c.(9403-9405)Ggc>Agc	p.G3135S	FAT4_uc011cgp.2_Missense_Mutation_p.G1433S|FAT4_uc003ifi.1_Missense_Mutation_p.G613S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3135	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGAAGAAGGCATTTTTGC	0.388000														18			13		0	0	0.457914	0	0
TYMS	7298	broad.mit.edu	37	18	662242	662242	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr18:662242A>G	uc010dka.1	+	2	515	c.376A>G	c.(376-378)Aga>Gga	p.R126G	TYMS_uc010dkb.1_Missense_Mutation_p.R126G|TYMS_uc010dkc.1_Intron	NM_001071	NP_001062	P04818	TYSY_HUMAN	Homo sapiens thymidylate synthetase (TYMS), mRNA.	126					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	ATTCTCCACCAGAGAAGAAGG	0.498000														302			56		0	0	0.870114	0	0
SNRPE	6635	broad.mit.edu	37	1	203832835	203832835	+	Silent	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:203832835G>A	uc001hai.3	+	2	174	c.126G>A	c.(124-126)cgG>cgA	p.R42R	SNRPE_uc010pqn.2_Non-coding_Transcript	NM_003094	NP_003085	P62304	RUXE_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide E (SNRPE), mRNA.	42					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding	p.R42W(1)		breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGAATATGCGGATAGAAGGCT	0.428000														134			68		0	0	0.870114	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996225	57996225	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr11:57996225C>T	uc010rkd.2	-	0	166	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CACAGAGGATCATCAAGTAGA	0.527000														70			28		0	0	0.681144	0	0
IMPG1	3617	broad.mit.edu	37	6	76660465	76660465	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:76660465G>C	uc003pik.1	-	12	1768	c.1638C>G	c.(1636-1638)ttC>ttG	p.F546L		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	546					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TATCCTCCAAGAAATGATCTG	0.483000														45			13		0	0	0.457914	0	0
FBXW9	84261	broad.mit.edu	37	19	12800616	12800616	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr19:12800616G>A	uc010dyx.2	-	6	1165	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	FBXW9_uc010xmp.2_Non-coding_Transcript|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.H369Y	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	399							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GCGAAGACGTGCAGCAGGCCC	0.647000														56			17		0	0	0.592651	0	0
ZNF189	7743	broad.mit.edu	37	9	104170234	104170234	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr9:104170234G>C	uc004bbh.1	+	2	460	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	ZNF189_uc004bbg.1_Missense_Mutation_p.E20Q|ZNF189_uc004bbi.1_Missense_Mutation_p.E48Q|ZNF189_uc011lvk.1_Missense_Mutation_p.E47Q|ZNF189_uc022ble.1_5'UTR	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	62	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D61N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGATAAGGATGAGGAGCCAAC	0.368000														9			4		0	0	0.184627	0	0
AGL	178	broad.mit.edu	37	1	100327977	100327977	+	Nonsense_Mutation	SNP	C	G	G			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:100327977C>G	uc001dsi.1	+	3	858	c.458C>G	c.(457-459)tCa>tGa	p.S153*	AGL_uc001dsj.1_Nonsense_Mutation_p.S153*|AGL_uc001dsk.1_Nonsense_Mutation_p.S153*|AGL_uc001dsl.1_Nonsense_Mutation_p.S153*|AGL_uc001dsm.1_Nonsense_Mutation_p.S137*|AGL_uc001dsn.1_Nonsense_Mutation_p.S136*	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	153					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.E152*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCAAAAGAATCAGGTAATGTC	0.338000														69			21		0	0	0.592651	0	0
LBR	3930	broad.mit.edu	37	1	225599084	225599084	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:225599084A>T	uc001hoy.3	-	8	1317	c.1143T>A	c.(1141-1143)ttT>ttA	p.F381L	LBR_uc001hoz.3_Missense_Mutation_p.F381L	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	381					cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATTTGAGATCAAAAGTACCAA	0.373000														91			22		0	0	0.667858	0	0
LAMA4	3910	broad.mit.edu	37	6	112454683	112454683	+	Silent	SNP	G	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:112454683G>C	uc003pvu.2	-	26	3873	c.3564C>G	c.(3562-3564)ctC>ctG	p.L1188L	LAMA4_uc003pvv.2_Silent_p.L1181L|LAMA4_uc003pvt.2_Silent_p.L1181L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1188	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTGTGCTCTGAGGGCCCTGG	0.438000														76			24		0	0	0.681144	0	0
SIRPG	55423	broad.mit.edu	37	20	1615980	1615980	+	Silent	SNP	C	A	A	rs147655438		TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr20:1615980C>A	uc002wfm.1	-	3	1079	c.1014G>T	c.(1012-1014)gcG>gcT	p.A338A	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	338	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GTTTGCTGACCGCCAGCTGCC	0.502000														54			22		0.000175454	0.000200079	0.592651	1	0
MSN	4478	broad.mit.edu	37	X	64936758	64936758	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chrX:64936758G>C	uc004dwf.3	+	1	289	c.91G>C	c.(91-93)Gac>Cac	p.D31H	MSN_uc010nkp.1_Non-coding_Transcript	NM_002444	NP_002435	P26038	MOES_HUMAN	Homo sapiens moesin (MSN), mRNA.	31	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GCAGCTATTTGACCAGGTAAG	0.507000			T	ALK	ALCL									53			12		0	0	0.387290	0	0
NDC80	10403	broad.mit.edu	37	18	2616517	2616517	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr18:2616517G>C	uc002kli.3	+	16	2055	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	625	Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AAATATTAAAGAGATTAGAGA	0.299000														26			6		0	0	0.335167	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104205	26104205	+	Silent	SNP	C	G	G	rs139978722		TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:26104205C>G	uc003ngi.3	+	0	30	c.30C>G	c.(28-30)ggC>ggG	p.G10G		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	10					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						GCGGAAAAGGCTTGGGGAAGG	0.532000														53			16		0	0	0.557998	0	0
ZNF192	7745	broad.mit.edu	37	6	28116192	28116192	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:28116192G>A	uc003nkn.1	+	1	191	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	ZNF192_uc010jqx.1_Missense_Mutation_p.E3K|ZNF192_uc010jqy.1_5'UTR|ZNF192_uc011dkz.1_5'UTR	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	3					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTAATGGCTGAAGAATCAAG	0.473000														19			7		0	0	0.335167	0	0
KLHL26	55295	broad.mit.edu	37	19	18778682	18778682	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr19:18778682G>A	uc002njz.1	+	2	502	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	159								p.A158A(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTGAAGGCGGCCATGAGCGT	0.647000														43			3		0	0	0.115264	0	0
DCK	1633	broad.mit.edu	37	4	71892401	71892401	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr4:71892401C>A	uc003hfx.3	+	5	973	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K	DCK_uc011cbb.2_Missense_Mutation_p.Q157K	NM_000788	NP_000779	P27707	DCK_HUMAN	Homo sapiens deoxycytidine kinase (DCK), mRNA.	229					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CGATTATCTTCAAGAGGTGCC	0.284000														21			12		0.00010058	0.000116745	0.411799	1	0
IMPG1	3617	broad.mit.edu	37	6	76660636	76660636	+	Silent	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:76660636G>A	uc003pik.1	-	12	1597	c.1467C>T	c.(1465-1467)atC>atT	p.I489I		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	489					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAGTTGGCTGATTGCAGAAT	0.498000														50			15		0	0	0.539581	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170764	167170764	+	Silent	SNP	G	A	A	rs140665807		TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr3:167170764G>A	uc003fes.1	-	5	1025	c.954C>T	c.(952-954)acC>acT	p.T318T	SERPINI2_uc003fer.1_Silent_p.T308T|SERPINI2_uc003fet.1_Silent_p.T308T	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	308					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TAAATATCTCGGTTATGTTCA	0.279000														20			14		0	0	0.500413	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209735	140209735	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr5:140209735G>A	uc003lho.2	+	0	2086	c.2059G>A	c.(2059-2061)Gcg>Acg	p.A687T	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_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.A687T	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	697	Cadherin 6.				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)			GGTGGGCGCCGCGGGCCCAGA	0.672000														68			5		0	0	0.217242	0	0
ZNF385A	25946	broad.mit.edu	37	12	54764720	54764720	+	Silent	SNP	T	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr12:54764720T>C	uc001sfy.3	-	5	880	c.825A>G	c.(823-825)caA>caG	p.Q275Q	ZNF385A_uc009zno.1_Non-coding_Transcript|ZNF385A_uc001sfw.1_Silent_p.Q255Q|ZNF385A_uc010sov.1_Silent_p.Q174Q|ZNF385A_uc001sfx.1_Silent_p.Q255Q|ZNF385A_uc001sfz.3_Silent_p.Q194Q	NM_001130967	NP_001124439	Q96PM9	Z385A_HUMAN	Homo sapiens zinc finger protein 385A (ZNF385A), transcript variant 1, mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTGTTTCAGTTGGACCTCCG	0.597000											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			28		0	0	0.750413	0	0
NDC80	10403	broad.mit.edu	37	18	2616466	2616466	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr18:2616466G>C	uc002kli.3	+	16	2004	c.1822G>C	c.(1822-1824)Gat>Cat	p.D608H		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	608	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TGCTAAAGTTGATAGAGAATA	0.269000														33			8		0	0	0.500413	0	0
NTRK1	4914	broad.mit.edu	37	1	156843561	156843561	+	Silent	SNP	C	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:156843561C>T	uc001fqh.1	+	7	1043	c.987C>T	c.(985-987)ttC>ttT	p.F329F	NTRK1_uc001fqf.1_Silent_p.F299F|NTRK1_uc009wsi.1_Silent_p.F34F|NTRK1_uc001fqi.1_Silent_p.F329F|NTRK1_uc009wsk.1_Silent_p.F329F	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	329	Ig-like C2-type 2.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCTTCATCTTCACTGAGTTCC	0.617000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				14			7		0	0	0.248553	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319100	21319100	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr17:21319100G>A	uc021tss.1	+	2	816	c.446G>A	c.(445-447)cGc>cAc	p.R149H	KCNJ18_uc002gyv.1_Missense_Mutation_p.R149H|KCNJ18_uc021tst.1_Missense_Mutation_p.R149H	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	149						integral to membrane	inward rectifier potassium channel activity										TACGGGCTGCGCTGTGTGACG	0.642000														47			5		0	0	0.184627	0	0
CRISP3	10321	broad.mit.edu	37	6	49696475	49696475	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:49696475C>T	uc021zai.1	-	7	863	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	CRISP3_uc003ozs.3_Missense_Mutation_p.A249T	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	236					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGCAGGAGGCCTTGCAACTG	0.403000														71			33		0	0	0.779181	0	0
IMPG1	3617	broad.mit.edu	37	6	76660533	76660533	+	Silent	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:76660533G>A	uc003pik.1	-	12	1700	c.1570C>T	c.(1570-1572)Ctg>Ttg	p.L524L		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	524					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTGTCAGACAGATCCATTTCA	0.493000														27			5		0	0	0.335167	0	0
RGS21	431704	broad.mit.edu	37	1	192321246	192321246	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:192321246C>A	uc001gsh.3	+	3	332	c.158C>A	c.(157-159)gCc>gAc	p.A53D		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	53	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTCTGGCTTGCCTGTGAAGAC	0.328000														34			10		4.1943e-16	5.14396e-16	0.361761	1	0
AOC2	314	broad.mit.edu	37	17	40997487	40997487	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr17:40997487G>C	uc002ibu.3	+	0	879	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L	AOC2_uc002ibt.3_Missense_Mutation_p.V282L	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	282					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.V282V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCGGTTGGAAGTGGTTAGAGT	0.572000														66			19		0	0	0.575678	0	0
MAPT	4137	broad.mit.edu	37	17	44101444	44101444	+	Silent	SNP	C	G	G			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr17:44101444C>G	uc002ijr.4	+	13	2506	c.2184C>G	c.(2182-2184)gtC>gtG	p.V728V	MAPT_uc010dau.3_Silent_p.V746V|MAPT_uc002ijs.4_Silent_p.V411V|MAPT_uc002ijx.4_Silent_p.V382V|MAPT_uc021tyv.1_Silent_p.V380V|MAPT_uc002ijt.4_Silent_p.V353V|MAPT_uc021tyw.1_Silent_p.V351V|MAPT_uc002iju.4_Silent_p.V322V	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	728					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCAGCAATGTCTCCTCCACCG	0.622000														117			9		0	0	0.335167	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20440719	20440719	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:20440719C>T	uc001bcz.3	-	3	343	c.326G>A	c.(325-327)tGt>tAt	p.C109Y	PLA2G2D_uc009vpo.3_Non-coding_Transcript	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	109					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCACAGGCACACAGCTGCTG	0.597000										Multiple Myeloma(11;0.12)				38			14		0	0	0.457914	0	0
COASY	80347	broad.mit.edu	37	17	40717244	40717244	+	Splice_Site	SNP	G	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr17:40717244G>T	uc010cyj.3	+	8	1592	c.1390_splice	c.e8-1	p.K464_splice	COASY_uc002hzz.3_Splice_Site_p.K435_splice|COASY_uc002iab.3_Splice_Site_p.K140_splice|COASY_uc002iad.3_Splice_Site_p.K435_splice|COASY_uc002iac.3_Splice_Site_p.K435_splice|COASY_uc002iae.3_Splice_Site_p.K230_splice|MLX_uc002iaf.3_5'Flank|MLX_uc002iag.3_5'Flank|MLX_uc002iah.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	435	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCCCTCCCCAGAAGCAGCTGA	0.562000														140			31		6.19805e-25	7.74756e-25	0.812448	1	0
MSRA	4482	broad.mit.edu	37	8	9912062	9912062	+	Silent	SNP	C	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr8:9912062C>T	uc003wsx.3	+	0	233	c.36C>T	c.(34-36)ctC>ctT	p.L12L	MSRA_uc011kwx.2_Silent_p.L12L	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	12				Missing (in Ref. 6; AAG09689).	methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GCCAGCTCCTCCTCCTCCACA	0.716000														23			12		0	0	0.479597	0	0
MSRA	4482	broad.mit.edu	37	8	9912103	9912103	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr8:9912103C>T	uc003wsx.3	+	0	274	c.77C>T	c.(76-78)tCg>tTg	p.S26L	MSRA_uc011kwx.2_Missense_Mutation_p.S26L	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	26					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATGGGCAACTCGGCCTCGAAC	0.697000														29			13		0	0	0.457914	0	0
STAG2	10735	broad.mit.edu	37	X	123197834	123197834	+	Nonsense_Mutation	SNP	C	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chrX:123197834C>A	uc004eua.3	+	19	2362	c.1958C>A	c.(1957-1959)tCa>tAa	p.S653*	STAG2_uc004etz.4_Nonsense_Mutation_p.S653*|STAG2_uc004eub.3_Nonsense_Mutation_p.S653*|STAG2_uc004euc.3_Nonsense_Mutation_p.S653*|STAG2_uc004eud.3_Nonsense_Mutation_p.S653*|STAG2_uc004eue.3_Nonsense_Mutation_p.S653*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	653					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTAGATATTTCAAGAAGTCAA	0.333000														45			13		1.49906e-05	1.77162e-05	0.457914	1	0
PRPF6	24148	broad.mit.edu	37	20	62642850	62642850	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr20:62642850G>C	uc002yho.3	+	10	1686	c.1518G>C	c.(1516-1518)tgG>tgC	p.W506C	PRPF6_uc002yhp.3_Missense_Mutation_p.W506C	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	506					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GTGAGCAGTGGATCCAGGTGG	0.602000														20			3		0	0	0.115264	0	0
HYAL1	3373	broad.mit.edu	37	3	50340364	50340364	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr3:50340364G>C	uc003czp.3	-	1	156	c.24C>G	c.(22-24)atC>atG	p.I8M	HYAL1_uc003czm.3_Intron|HYAL1_uc003czo.3_Intron|HYAL1_uc003czq.3_Missense_Mutation_p.I8M|HYAL1_uc003czr.3_Missense_Mutation_p.I8M|HYAL1_uc003czn.3_Intron|HYAL1_uc003czs.3_Missense_Mutation_p.I8M|HYAL1_uc003czt.3_Missense_Mutation_p.I8M	NM_033159	NP_695015	Q12794	HYAL1_HUMAN	Homo sapiens hyaluronoglucosaminidase 1 (HYAL1), transcript variant 7, mRNA.	8						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	AGAGGGCGCAGATGGGAAGCA	0.607000														34			6		0	0	0.217242	0	0
DGCR2	9993	broad.mit.edu	37	22	19028613	19028613	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr22:19028613C>T	uc002zoq.1	-	8	1602	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	DGCR2_uc021wkx.1_Missense_Mutation_p.E449K|DGCR2_uc021wky.1_Missense_Mutation_p.E411K|DGCR2_uc021wkz.1_Missense_Mutation_p.E228K|DGCR2_uc011agr.1_Missense_Mutation_p.E408K|DGCR2_uc002zor.1_Missense_Mutation_p.E228K	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	452					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ATGGAGGCCTCGTAGGGCGGC	0.632000														29			7		0	0	0.248553	0	0
GORAB	92344	broad.mit.edu	37	1	170501324	170501324	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:170501324C>T	uc001gha.2	+	0	62	c.35C>T	c.(34-36)gCg>gTg	p.A12V	GORAB_uc009wvw.2_Missense_Mutation_p.A12V|GORAB_uc001ggz.4_Missense_Mutation_p.A12V|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	12						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GTCGCGGCTGCGAGATTTGGG	0.622000														68			14		0	0	0.479597	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420491	56420491	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr2:56420491G>A	uc002rzn.3	+	1	1658	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	386										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGCAGCGGCGGAGGCAGCAG	0.627000														8			3		0	0	0.115264	0	0
SNRPE	6635	broad.mit.edu	37	1	203832834	203832834	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr1:203832834G>A	uc001hai.3	+	2	173	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	SNRPE_uc010pqn.2_Non-coding_Transcript	NM_003094	NP_003085	P62304	RUXE_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide E (SNRPE), mRNA.	42					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding	p.R42W(1)		breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGAATATGCGGATAGAAGGC	0.428000														133			68		0	0	0.870114	0	0
OGT	8473	broad.mit.edu	37	X	70782731	70782731	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chrX:70782731C>T	uc004eaa.2	+	15	2250	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.A661V|OGT_uc004eac.3_Missense_Mutation_p.A532V|OGT_uc004ead.3_Missense_Mutation_p.A290V	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	671					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACGAGTGGTGCGCTTTTCATG	0.393000														77			27		0	0	0.706142	0	0
C12orf74	338809	broad.mit.edu	37	12	93100691	93100691	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr12:93100691C>G	uc001tch.2	+	1	735	c.284C>G	c.(283-285)tCt>tGt	p.S95C	C12orf74_uc001tci.3_Missense_Mutation_p.S95C|C12orf74_uc021rbt.1_Missense_Mutation_p.S95C	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	95										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCAAAGGATTCTTCACACTTG	0.582000														58			23		0	0	0.608945	0	0
IMPG1	3617	broad.mit.edu	37	6	76660529	76660529	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:76660529G>A	uc003pik.1	-	12	1704	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	525					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGGAGTGTCAGACAGATCCAT	0.488000														29			4		0	0	0.307466	0	0
COL9A1	1297	broad.mit.edu	37	6	70990561	70990561	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr6:70990561G>A	uc003pfg.4	-	9	1088	c.929C>T	c.(928-930)cCg>cTg	p.P310L	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Missense_Mutation_p.P67L	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	310	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGCTTTCCCGGTTCACCTGC	0.627000														17			8		0	0	0.307466	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730588	37730589	+	Frame_Shift_Ins	INS	-	G	G			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr8:37730588_37730589insG	uc003xkm.2	-	3	1787_1788	c.1731_1732insC	c.(1729-1734)ccctctfs	p.P577fs	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	577	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCCAATTCAGAGGGGACAGATG	0.559													---	49	---	---	26	---					
TSC1	7248	broad.mit.edu	37	9	135796822	135796826	+	Splice_Site	DEL	GGCTA	-	-	rs118203425		TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr9:135796822_135796826delGGCTA	uc004cca.2	-	8	898	c.664_splice	c.e8-1	p.P222_splice	TSC1_uc004ccb.3_Splice_Site_p.P222_splice|TSC1_uc011mcq.1_Splice_Site_p.P171_splice|TSC1_uc011mcr.2_Splice_Site_p.P101_splice|TSC1_uc011mcs.1_Splice_Site_p.P101_splice|TSC1_uc004ccc.1_Splice_Site_p.P222_splice|TSC1_uc004cce.1_Splice_Site_p.P222_splice	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	222					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTCCATCATTGGCTAGAAGAGTTGG	0.376			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				---	21	---	---	9	---					
LYPD3	27076	broad.mit.edu	37	19	43967294	43967300	+	Frame_Shift_Del	DEL	GTTGCCG	-	-			TCGA-A4-7287-01A-11D-2136-08	TCGA-A4-7287-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11ea8c34-5b98-4a26-9312-6d92ea3eb990	93eabf7d-e975-4f03-a638-5bc360235ff1	g.chr19:43967294_43967300delGTTGCCG	uc002owl.1	-	3	630_636	c.522_528delCGGCAAC	c.(520-528)gacggcaacfs	p.D174fs	LYPD3_uc002owm.3_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	174	UPAR/Ly6 2.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				TCAAGGTGACGTTGCCGTCGAAGCAGC	0.647													---	78	---	---	20	---					
