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
ACO2	50	broad.mit.edu	37	22	41911896	41911896	+	Silent	SNP	T	T	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr22:41911896T>C	uc003bac.3	+	5	832	c.810T>C	c.(808-810)ccT>ccC	p.P270P		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	270				P -> H (in Ref. 6; AAH26196).	citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ACCACGGGCCTGGTGTAGACT	0.607000													54	47					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31154974	31154974	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr2:31154974G>T	uc002rns.3	-	10	1673	c.1033C>A	c.(1033-1035)Ccc>Acc	p.P345T	GALNT14_uc002rnq.3_Missense_Mutation_p.P320T|GALNT14_uc010ymr.2_Missense_Mutation_p.P305T|GALNT14_uc002rnr.3_Missense_Mutation_p.P340T|GALNT14_uc010ezo.2_Missense_Mutation_p.P307T|GALNT14_uc010ezp.1_3'UTR	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	340						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AAAACGTAGGGGTGCTTCTTC	0.602000													5	80					0.014758	0.0152583	1	1	0
FASLG	356	broad.mit.edu	37	1	172634980	172634980	+	Missense_Mutation	SNP	A	A	G	rs111238176		TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:172634980A>G	uc001gis.3	+	3	827	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	224					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGATCTGGTGATGATGGAGGG	0.507000													38	50					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7751756	7751756	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr17:7751756C>T	uc002gix.3	+	0	893	c.56C>T	c.(55-57)gCa>gTa	p.A19V	KDM6B_uc002giw.1_Missense_Mutation_p.A717V	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	717					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CAACACGAAGCAGGCGTGGCC	0.587000													4	45					0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44457731	44457731	+	Silent	SNP	T	T	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr2:44457731T>C	uc002rtt.3	+	5	1742	c.1314T>C	c.(1312-1314)tcT>tcC	p.S438S	PPM1B_uc002rtu.3_3'UTR|PPM1B_uc002rtv.3_Silent_p.S151S|PPM1B_uc002rtw.3_Intron|PPM1B_uc002rtx.3_Intron	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	438					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGCTACTTCTTCGAACAGTG	0.473000													116	60					0	0	1	0	0
ARHGAP42	143872	broad.mit.edu	37	11	100641096	100641096	+	Missense_Mutation	SNP	A	A	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr11:100641096A>T	uc001pge.2	+	1	180	c.177A>T	c.(175-177)aaA>aaT	p.K59N		NM_152432	NP_689645	A6NI28	RHG42_HUMAN	Homo sapiens Rho GTPase activating protein 42 (ARHGAP42), mRNA.	59	BAR.				filopodium assembly|signal transduction	intracellular	GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(3)|skin(2)	5						CAGTGCAGAAATTTTCCCAGT	0.343000													15	14					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793036	21793036	+	Silent	SNP	C	C	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr14:21793036C>T	uc001wag.3	+	13	2022	c.2022C>T	c.(2020-2022)ccC>ccT	p.P674P	RPGRIP1_uc001wah.3_Silent_p.P316P|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Silent_p.P139P|RPGRIP1_uc001wak.3_Silent_p.P149P|RPGRIP1_uc010aim.3_Silent_p.P57P|RPGRIP1_uc001wal.3_Silent_p.P33P|RPGRIP1_uc001wam.3_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	674					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCCACAGCCCCTCTATGACT	0.512000													39	59					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120580455	120580455	+	Silent	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr8:120580455G>A	uc003yos.2	-	22	2333	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	ENPP2_uc011lic.2_Silent_p.F235F|ENPP2_uc003yor.2_Silent_p.F332F|ENPP2_uc010mdd.2_Silent_p.F722F|ENPP2_uc003yot.2_Silent_p.F697F	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	697					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGTTACAAGGAATGCATCAT	0.294000													6	209					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10506875	10506875	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr19:10506875C>T	uc002mof.1	-	1	223	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	36					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		GCGTTCCACCCGGGCCTGCGG	0.632000													52	54					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897408	61897408	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr11:61897408G>A	uc001nsw.1	+	3	611	c.409G>A	c.(409-411)Gca>Aca	p.A137T	INCENP_uc009ynv.3_Missense_Mutation_p.A137T|INCENP_uc009ynw.1_Missense_Mutation_p.A137T|INCENP_uc001nsx.1_Missense_Mutation_p.A137T	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	137			A -> V (in dbSNP:rs34441559).		chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGCTACCATGGCATTGGCTGC	0.627000													16	35					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639633	6639633	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:6639633G>A	uc001ant.3	+	5	2611	c.2515G>A	c.(2515-2517)Ggc>Agc	p.G839S	TAS1R1_uc001anu.3_Missense_Mutation_p.G585S|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	839					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCGCTGCGGCTCCACCTG	0.632000													11	18					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61945126	61945126	+	Silent	SNP	G	G	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr20:61945126G>T	uc011aau.2	+	17	2341	c.2241G>T	c.(2239-2241)ctG>ctT	p.L747L	COL20A1_uc011aav.2_Silent_p.L568L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	747	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTCCAACCTGGCCCTGGCCT	0.701000													3	80					0.00909568	0.00956615	1	1	0
PRKCE	5581	broad.mit.edu	37	2	45879246	45879246	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr2:45879246G>C	uc002rut.3	+	0	204	c.7G>C	c.(7-9)Gtg>Ctg	p.V3L		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	3	C2.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GACCATGGTAGTGTTCAATGG	0.652000													24	23					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177902408	177902408	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:177902408G>T	uc001glj.1	-	26	3633	c.2767C>A	c.(2767-2769)Ccc>Acc	p.P923T	SEC16B_uc001glk.1_Missense_Mutation_p.P599T|SEC16B_uc009wwy.1_Missense_Mutation_p.P477T|SEC16B_uc001glh.1_Missense_Mutation_p.P581T|SEC16B_uc001gli.1_Missense_Mutation_p.P922T|SEC16B_uc009wwz.1_Missense_Mutation_p.P581T	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	922					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TTCTTGGTGGGCTTCGATCGA	0.577000													6	110					0.0477658	0.0477658	1	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44796552	44796552	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr7:44796552G>A	uc003tlr.3	+	3	295	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	ZMIZ2_uc003tlq.3_Intron|ZMIZ2_uc003tls.3_Missense_Mutation_p.G58R|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	58	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATAGGTTTTGGGGAACCCCAT	0.592000													33	40					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181040	81181040	+	Splice_Site	SNP	A	A	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr15:81181040A>T	uc002bfw.1	+	8	1129	c.869_splice	c.e8-2	p.G290_splice	KIAA1199_uc010unn.1_Splice_Site_p.G290_splice	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	290										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTCTCTGACAGGACATCGAG	0.498000													22	20					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42281356	42281356	+	Silent	SNP	C	C	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr18:42281356C>T	uc010dni.3	+	1	341	c.45C>T	c.(43-45)ggC>ggT	p.G15G	SETBP1_uc002lay.3_Silent_p.G15G	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	15						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAGAGGGGGCGAGTCAGACT	0.592000									Schinzel-Giedion syndrome				3	60					0	0	1	0	0
GLTPD2	388323	broad.mit.edu	37	17	4693110	4693110	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr17:4693110A>G	uc002fza.2	+	3	448	c.395A>G	c.(394-396)aAg>aGg	p.K132R	BC150535_uc002fyz.2_Missense_Mutation_p.L94P	NM_001014985	NP_001014985			Homo sapiens glycolipid transfer protein domain containing 2 (GLTPD2), mRNA.											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GCCTTCACCAAGGTGACAGAC	0.672000													68	56					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70229864	70229864	+	Silent	SNP	C	C	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr7:70229864C>G	uc003tvw.4	+	7	2076	c.1341C>G	c.(1339-1341)acC>acG	p.T447T	AUTS2_uc003tvx.4_Silent_p.T447T|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	447										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		tcacacccaccctccagcccc	0.652000													102	79					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77769260	77769260	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr14:77769260A>G	uc001xti.2	-	4	775	c.574T>C	c.(574-576)Tac>Cac	p.Y192H	POMT2_uc001xth.1_5'Flank|POMT2_uc010asr.2_Missense_Mutation_p.Y81H	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	192					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AGGAGGATGTACTGGGACAGA	0.532000													4	68					0	0	1	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814344	75814344	+	Missense_Mutation	SNP	C	C	A	rs61960514	by1000genomes	TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr13:75814344C>A	uc010ths.2	-	0	174	c.133G>T	c.(133-135)Gta>Tta	p.V45L						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		GCTGCACATACCACCAGTTCC	0.468000													5	346					0.0215528	0.021912	1	1	0
PDE2A	5138	broad.mit.edu	37	11	72293520	72293520	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr11:72293520G>T	uc010rrc.2	-	20	2065	c.1819C>A	c.(1819-1821)Cct>Act	p.P607T	PDE2A_uc001oso.3_Missense_Mutation_p.P586T|PDE2A_uc010rra.2_Missense_Mutation_p.P600T|PDE2A_uc001osn.3_Missense_Mutation_p.P351T|PDE2A_uc010rrb.2_Missense_Mutation_p.P598T|PDE2A_uc010rrd.2_Missense_Mutation_p.P492T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	607					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGGGAACGAGGGGTATAGGTG	0.517000													40	39					9.57592e-29	1.14536e-28	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100729543	100729543	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr8:100729543C>G	uc003yiv.3	+	36	6785	c.6674C>G	c.(6673-6675)cCa>cGa	p.P2225R	VPS13B_uc003yiw.3_Missense_Mutation_p.P2200R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2225					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCGGGAATCCAGGCCCAGAA	0.418000													4	83					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215865727	215865727	+	Missense_Mutation	SNP	G	G	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr2:215865727G>C	uc002vew.3	-	21	3101	c.2881C>G	c.(2881-2883)Cct>Gct	p.P961A	ABCA12_uc002vev.3_Missense_Mutation_p.P643A|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	961					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTTAGAAGGAAGCTTAAAA	0.403000													12	25					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934633	94934633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr8:94934633C>T	uc011lgn.2	+	1	572	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	PDP1_uc003ygf.3_Nonsense_Mutation_p.Q141*|PDP1_uc003yge.3_Nonsense_Mutation_p.Q116*|PDP1_uc010max.3_Nonsense_Mutation_p.Q141*|PDP1_uc011lgm.2_Nonsense_Mutation_p.Q116*|PDP1_uc022ayg.1_Nonsense_Mutation_p.Q116*	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	116					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TGACAGCAATCAGCTGCCTGC	0.463000													27	32					0	0	1	0	0
RBM20	282996	broad.mit.edu	37	10	112540726	112540726	+	Missense_Mutation	SNP	T	T	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr10:112540726T>C	uc001kzf.2	+	1	417	c.359T>C	c.(358-360)cTg>cCg	p.L120P		NM_001134363	NP_001127835	Q5T481	RBM20_HUMAN	Homo sapiens RNA binding motif protein 20 (RBM20), mRNA.	120						nucleus	RNA binding|nucleotide binding|zinc ion binding			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						GCCACAGTCCTGAACCAAGTC	0.612000													25	40					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41119074	41119074	+	Silent	SNP	G	G	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr19:41119074G>T	uc002ooh.1	+	18	2604	c.2604G>T	c.(2602-2604)gcG>gcT	p.A868A	LTBP4_uc002oog.1_Silent_p.A831A|LTBP4_uc002ooi.1_Silent_p.A801A|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_Silent_p.A156A|LTBP4_uc002ook.1_Silent_p.A88A|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	868	Cys-rich.|EGF-like 9; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.A868A(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTACCGGGCGCCGTCGGGTC	0.692000													10	59					1.58986e-06	1.79596e-06	1	1	0
DDX50	79009	broad.mit.edu	37	10	70670106	70670106	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr10:70670106C>A	uc001jou.3	+	2	535	c.428C>A	c.(427-429)cCt>cAt	p.P143H	DDX50_uc001jot.3_Missense_Mutation_p.P143H	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	143						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TCCAATTTTCCTATTTCTGAA	0.378000													7	19					9.70103e-10	1.11653e-09	1	1	0
RAB3GAP2	25782	broad.mit.edu	37	1	220324630	220324630	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:220324630A>G	uc010puk.1	-	34	4309	c.4145T>C	c.(4144-4146)aTt>aCt	p.I1382T	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.I1382T|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.I962T	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1382					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CACAGCTTCAATGAGGTGTAA	0.348000													5	74					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43902958	43902958	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:43902958C>T	uc001cjk.2	+	41	6064	c.3454C>T	c.(3454-3456)Cgc>Tgc	p.R1152C		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2051						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGTCCATTCACGCCTCAAAAT	0.572000													42	41					0	0	1	0	0
PON2	5445	broad.mit.edu	37	7	95040981	95040981	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr7:95040981G>T	uc003unv.3	-	4	599	c.478C>A	c.(478-480)Cat>Aat	p.H160N	PON2_uc003unu.3_Missense_Mutation_p.H148N|PON2_uc010lfk.3_Non-coding_Transcript|PON2_uc003unw.3_Missense_Mutation_p.H73N	NM_000305	NP_000296	Q15165	PON2_HUMAN	Homo sapiens paraoxonase 2 (PON2), transcript variant 1, mRNA.	160					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			AGAAGCTCATGTTTGACTGTT	0.358000													35	35					9.84934e-19	1.1554e-18	1	1	0
BC012753	0	broad.mit.edu	37	GL000214.1	32611	32611	+	RNA	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chrGL000214.1:32611G>A	uc011mfm.2	+	1		c.820G>A								Homo sapiens cDNA clone IMAGE:3625232, partial cds.																		GTTTCCAAGAGCAACAGGAAA	0.413000													3	19					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154244	74154244	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr18:74154244G>T	uc021ulp.1	-	2	1085	c.767C>A	c.(766-768)gCc>gAc	p.A256D		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A256D(4)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGGCTGAAGGCCTGGCCACA	0.687000													4	70					0.00116845	0.00127277	1	1	0
BRCC3	79184	broad.mit.edu	37	X	154299904	154299904	+	Silent	SNP	A	A	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chrX:154299904A>C	uc004fna.3	+	0	210	c.102A>C	c.(100-102)gtA>gtC	p.V34V	MTCP1NB_uc004fmy.3_5'Flank|MTCP1_uc004fmz.2_5'Flank|BRCC3_uc011mzz.2_Non-coding_Transcript|BRCC3_uc004fnb.3_Silent_p.V34V|BRCC3_uc011mzy.2_Silent_p.V34V	NM_024332	NP_077308	P46736	BRCC3_HUMAN	Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.	34					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V34I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGAGGAAGTAATGGGGCTGT	0.612000													5	86					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98995295	98995295	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr12:98995295T>A	uc001tfo.3	+	7	1198	c.1078T>A	c.(1078-1080)Tta>Ata	p.L360I	SLC25A3_uc001tfm.3_Missense_Mutation_p.L359I|SLC25A3_uc001tfn.3_Missense_Mutation_p.L359I|SLC25A3_uc001tfp.3_Missense_Mutation_p.L359I|SLC25A3_uc001tfq.3_Missense_Mutation_p.L229I|SLC25A3_uc001tfr.3_Missense_Mutation_p.L360I|SLC25A3_uc001tfs.3_Missense_Mutation_p.L316I	NM_005888	NP_005879	Q00325	MPCP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	360					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GAAGCTTGGGTTAACTCAGTA	0.433000													40	23					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97051597	97051597	+	Silent	SNP	A	A	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr6:97051597A>G	uc003pos.2	+	2	524	c.108A>G	c.(106-108)gtA>gtG	p.V36V	FHL5_uc003pot.2_Silent_p.V36V	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	36						nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ATGATCGTGTATTTTCTAACT	0.363000													24	36					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526011	52526011	+	Missense_Mutation	SNP	C	C	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr3:52526011C>T	uc003ded.4	+	20	4162	c.4028C>T	c.(4027-4029)cCa>cTa	p.P1343L	NISCH_uc003dee.4_Missense_Mutation_p.P832L|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1343					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GAGAAGGCCCCAGCCCTCAGC	0.627000													32	84					0	0	1	0	0
SETD6	79918	broad.mit.edu	37	16	58549753	58549753	+	Missense_Mutation	SNP	G	G	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr16:58549753G>T	uc002ens.3	+	1	145	c.86G>T	c.(85-87)tGc>tTc	p.C29F	SETD6_uc010cdl.2_Missense_Mutation_p.C29F|SETD6_uc021tjh.1_Missense_Mutation_p.C29F|SETD6_uc002enr.3_Missense_Mutation_p.C29F|SETD6_uc010cdm.3_Non-coding_Transcript|SETD6_uc010vij.1_5'UTR	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	Homo sapiens SET domain containing 6 (SETD6), transcript variant 1, mRNA.	29	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CTGAGCTGGTGCCGGCGGGTG	0.736000													6	44					0.00307968	0.0032958	1	1	0
MRPL45	84311	broad.mit.edu	37	17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	rs139299251	by1000genomes	TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr17:36453192T>G	uc002hpy.3	+	0	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN	Homo sapiens mitochondrial ribosomal protein L45 (MRPL45), nuclear gene encoding mitochondrial protein, mRNA.	15					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582000													3	62					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218713569	218713569	+	Missense_Mutation	SNP	C	C	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr2:218713569C>G	uc002vgt.2	-	16	1694	c.1296G>C	c.(1294-1296)ttG>ttC	p.L432F	TNS1_uc002vgr.2_Missense_Mutation_p.L432F|TNS1_uc002vgs.2_Missense_Mutation_p.L432F|TNS1_uc010zjv.1_Missense_Mutation_p.L432F|TNS1_uc010fvj.1_Missense_Mutation_p.L500F|TNS1_uc010fvk.1_Missense_Mutation_p.L557F|TNS1_uc010fvi.1_Missense_Mutation_p.L119F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	432						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTGGGGACTCAAGGCAGCAG	0.642000													36	62					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207112530	207112530	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:207112530A>G	uc001hez.3	-	2	506	c.322T>C	c.(322-324)Tac>Cac	p.Y108H	PIGR_uc009xbz.3_Missense_Mutation_p.Y108H	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	108	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding	p.Y108*(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCACACTTGTAGCGCCCGGAG	0.577000													49	82					0	0	1	0	0
SLC35B4	84912	broad.mit.edu	37	7	133984905	133984905	+	Splice_Site	SNP	T	T	C			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr7:133984905T>C	uc003vrn.3	-	7	921	c.597_splice	c.e7+1	p.N199_splice	SLC35B4_uc010lmk.3_Splice_Site_p.N63_splice|SLC35B4_uc003vro.4_Splice_Site_p.N199_splice	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	Homo sapiens solute carrier family 35, member B4 (SLC35B4), mRNA.	199						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						GTTGCTTACATTATAAAACAA	0.378000													39	45					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55237637	55237637	+	Missense_Mutation	SNP	T	T	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr5:55237637T>A	uc003jqq.3	-	16	2343	c.2030A>T	c.(2029-2031)aAt>aTt	p.N677I	IL6ST_uc003jqp.3_Missense_Mutation_p.I190F|IL6ST_uc010iwd.3_5'UTR|IL6ST_uc011cqk.2_Missense_Mutation_p.N388I|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Missense_Mutation_p.N616I	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	677					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCTTTTGAATTAAAATTGTG	0.343000			O		hepatocellular ca								41	60					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15552558	15552558	+	Missense_Mutation	SNP	A	A	G			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr4:15552558A>G	uc010idv.2	+	18	2538	c.2293A>G	c.(2293-2295)Agc>Ggc	p.S765G	CC2D2A_uc003gnx.3_Missense_Mutation_p.S716G|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	765					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGTGGAGTTTAGCAGTAATCA	0.453000													26	27					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26720060	26720060	+	Missense_Mutation	SNP	C	C	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr11:26720060C>A	uc001mra.2	-	6	1157	c.844G>T	c.(844-846)Ggt>Tgt	p.G282C	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.G282C	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	282					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCCAGAGACCCAGCAAGTTA	0.453000													56	47					1.07363e-35	1.30983e-35	1	1	0
ZNF474	133923	broad.mit.edu	37	5	121487938	121487938	+	Missense_Mutation	SNP	C	C	T	rs143759385	byFrequency	TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr5:121487938C>T	uc003ksv.3	+	1	629	c.253C>T	c.(253-255)Cct>Tct	p.P85S	ZNF474_uc021ycy.1_Missense_Mutation_p.P85S	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	85						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GCTTAGCCCCCCTGTGATCCC	0.478000													3	38					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612378	31612378	+	Splice_Site	SNP	A	A	T			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr6:31612378A>T	uc003nvg.4	-	11	1702	c.1388_splice	c.e11-1	p.D463_splice	BAG6_uc003nvf.4_Splice_Site_p.D457_splice|BAG6_uc003nvi.4_Splice_Site_p.D457_splice|BAG6_uc003nvh.4_Splice_Site_p.D457_splice|BAG6_uc011dnw.2_Splice_Site_p.D457_splice|BAG6_uc011dnx.2_Splice_Site_p.D457_splice	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	463	4 X 29 AA approximate repeats.|Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTGTGCCAGAATCTGGGCAGG	0.597000													19	27					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151785765	151785765	+	Missense_Mutation	SNP	G	G	A			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:151785765G>A	uc001ezh.3	-	7	1232	c.1124C>T	c.(1123-1125)aCg>aTg	p.T375M	RORC_uc001ezg.3_Missense_Mutation_p.T354M|RORC_uc010pdo.2_Missense_Mutation_p.T429M|RORC_uc010pdp.2_Missense_Mutation_p.T375M	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	375	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R374C(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAAAGACCGTGCGGTTGTC	0.557000													34	40					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231931003	231931003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr1:231931003delA	uc010pxh.2	+	7	1799	c.1746delA	c.(1744-1746)atafs	p.I582fs	DISC1_uc010pwj.1_Frame_Shift_Del_p.I539fs|DISC1_uc010pwk.1_Frame_Shift_Del_p.I539fs|DISC1_uc010pwg.1_Frame_Shift_Del_p.I539fs|DISC1_uc010pwh.1_Frame_Shift_Del_p.I505fs|DISC1_uc010pwi.1_Frame_Shift_Del_p.I505fs|DISC1_uc010pwl.2_Intron|DISC1_uc010pwr.1_Frame_Shift_Del_p.I550fs|DISC1_uc010pws.1_Frame_Shift_Del_p.I550fs|DISC1_uc010pwt.1_Intron|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Frame_Shift_Del_p.I550fs|DISC1_uc001huy.3_Frame_Shift_Del_p.I550fs|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Frame_Shift_Del_p.I550fs|DISC1_uc010pxc.1_Intron|DISC1_uc010pxe.2_Frame_Shift_Del_p.I550fs|DISC1_uc010pxf.2_Frame_Shift_Del_p.I550fs|DISC1_uc010pxg.2_Intron|DISC1_uc010pxd.2_Frame_Shift_Del_p.I195fs|DISC1_uc009xfr.3_Frame_Shift_Del_p.I505fs|DISC1_uc010pxn.1_Frame_Shift_Del_p.I195fs|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Frame_Shift_Del_p.I195fs|DISC1_uc010pxl.1_Intron|DISC1_uc010pxm.2_Frame_Shift_Del_p.I428fs|DISC1_uc001huz.3_Frame_Shift_Del_p.I550fs|DISC1_uc001hva.3_Frame_Shift_Del_p.I550fs	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	550	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGGAAAGAATAAAATCCCTCA	0.358													27	33	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139417461	139417462	+	Frame_Shift_Ins	INS	-	-	G	rs146350322	by1000genomes	TCGA-A4-A5DU-01A-11D-A28G-10	TCGA-A4-A5DU-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4423a137-3e9c-4910-bff6-0f282d79e89a	61c2e34f-6a63-434c-becd-e6537a9b7df9	g.chr9:139417461_139417462insG	uc004chz.3	-	3	582_583	c.582_583insC	c.(580-585)acctgcfs	p.T194fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	194	EGF-like 5; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGTTGTGGCAGGTGCCTCCGT	0.698			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			10	137	---	---	---	---					
