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
NDUFV1	4723	broad.mit.edu	37	11	67375940	67375940	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:67375940A>G	uc001omj.2	+	1	299	c.146A>G	c.(145-147)cAt>cGt	p.H49R	C11orf72_uc001omi.1_5'Flank|NDUFV1_uc010rpv.1_Intron|NDUFV1_uc001omk.4_Missense_Mutation_p.H40R|NDUFV1_uc001oml.2_Missense_Mutation_p.H42R|NDUFV1_uc009yrz.1_5'Flank|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	49					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TACGGCCGCCATGACTGGAGG	0.557000													22	282					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16590333	16590333	+	Splice_Site	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:16590333A>G	uc003goz.3	-	4	847	c.531_splice	c.e4+1	p.H177_splice	LDB2_uc003gpa.3_Splice_Site_p.H177_splice|LDB2_uc011bxh.2_Splice_Site_p.H177_splice|LDB2_uc003gpb.3_Splice_Site_p.H177_splice|LDB2_uc010iee.3_Splice_Site_p.H177_splice|LDB2_uc011bxi.2_Splice_Site_p.H53_splice	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	177							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AATTACTTACATGCATGGCTA	0.388000													12	76					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126202303	126202303	+	Missense_Mutation	SNP	A	A	G	rs141282463		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:126202303A>G	uc010hsi.2	-	19	2033	c.1979T>C	c.(1978-1980)gTg>gCg	p.V660A	UROC1_uc003eiz.2_Missense_Mutation_p.V600A	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	600					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCCGTTGATCACCTCACCCCT	0.597000													8	41					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2582	2582	+	RNA	SNP	C	C	T			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chrGL000237.1:2582C>T	uc011mgu.1	-	0		c.105G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		cagagcgagacgagccacggt	0.607000													4	13					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:159653589G>A	uc010kjv.3	+	10	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_uc010kjw.1_Missense_Mutation_p.R567H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	682	Ser-rich.					extracellular region		p.R682H(2)|p.R682R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCGTTCTCCGCGACAGAAGC	0.716000													7	52					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121961146	121961146	+	Silent	SNP	C	C	T			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:121961146C>T	uc003idq.1	-	2	779	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	84								p.A84S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ACTCCAAAGGCGCATCACAGG	0.522000													5	99					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:24310294T>G	uc002nru.3	+	3	1626	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_uc010xrk.2_Missense_Mutation_p.S413A	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	498					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408000													4	84					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68822730	68822730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:68822730C>A	uc001oos.2	+	3	455	c.339C>A	c.(337-339)taC>taA	p.Y113*	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Nonsense_Mutation_p.Y113*|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	113					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTGCGCTACCGCGCTGCTC	0.617000													22	155					0	0	1	0	0
SPRR2F	6705	broad.mit.edu	37	1	153085010	153085010	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:153085010C>A	uc001fbi.3	-	1	259	c.200G>T	c.(199-201)tGt>tTt	p.C67F	SPRR2A_uc001fbf.3_Intron|SPRR2F_uc021ozt.1_Missense_Mutation_p.C67F	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	Homo sapiens small proline-rich protein 2F (SPRR2F), mRNA.	67					keratinization	cornified envelope|cytoplasm		p.C67F(2)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGGGTGGACACTTTGGCTG	0.542000													7	286					0	0	1	0	0
PDIK1L	149420	broad.mit.edu	37	1	26449050	26449050	+	Silent	SNP	T	T	C			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:26449050T>C	uc010oew.2	+	2	1281	c.1008T>C	c.(1006-1008)gaT>gaC	p.D336D	PDIK1L_uc001blj.4_Silent_p.D336D|PDIK1L_uc009vsb.3_Silent_p.D336D	NM_001243532	NP_001230461	Q8N165	PDK1L_HUMAN	Homo sapiens PDLIM1 interacting kinase 1 like (PDIK1L), transcript variant 2, mRNA.	336						nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		CATTTAAAGATAGCAGCTGGG	0.373000													6	62					0	0	1	0	0
TEX29	121793	broad.mit.edu	37	13	111996453	111996453	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr13:111996453G>A	uc001vsa.3	+	5	568	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA.	147						integral to membrane											AACAGAAGCCGAAGAAACTGA	0.378000													5	53					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38431360	38431360	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr5:38431360T>A	uc003jlc.2	+	14	2482	c.2136T>A	c.(2134-2136)gaT>gaA	p.D712E	EGFLAM_uc003jlb.2_Missense_Mutation_p.D712E|EGFLAM_uc003jle.2_Missense_Mutation_p.D478E|EGFLAM_uc003jlf.2_Missense_Mutation_p.D78E	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	712	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TACAGGTGGATAAGCAGAAGA	0.478000													11	65					0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7707903	7707903	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:7707903A>G	uc010xjr.2	+	11	1073	c.1028A>G	c.(1027-1029)aAg>aGg	p.K343R	STXBP2_uc002mha.4_Missense_Mutation_p.K332R|STXBP2_uc002mhb.4_Missense_Mutation_p.K329R|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	332					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATCCTGAAAAAGATGCCGCAG	0.612000													4	148					0	0	1	0	0
RPS27A	6233	broad.mit.edu	37	2	55462094	55462094	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr2:55462094A>G	uc010yow.2	+	4	540	c.317A>G	c.(316-318)tAt>tGt	p.Y106C	C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.3_Missense_Mutation_p.Y106C|RPS27A_uc021vhs.1_Missense_Mutation_p.Y106C	NM_001135592	NP_002945	P62979	RS27A_HUMAN	Homo sapiens ribosomal protein S27a (RPS27A), transcript variant 2, mRNA.	106					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	p.Y105H(1)		cervix(1)|ovary(1)|urinary_tract(1)	3						CTGAAATATTATAAGGTGAGC	0.378000													5	24					0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116734977	116734977	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:116734977A>G	uc001lcd.3	+	7	950	c.889A>G	c.(889-891)Att>Gtt	p.I297V	TRUB1_uc010qsl.2_Missense_Mutation_p.I199V	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	297					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAATGGACAATTGATGACAT	0.433000													16	149					0	0	1	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	A	C			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000													4	49					0	0	1	0	0
HIST1H4H	8365	broad.mit.edu	37	6	26285590	26285590	+	Silent	SNP	T	T	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:26285590T>G	uc003nhm.2	-	0	138	c.138A>C	c.(136-138)cgA>cgC	p.R46R	HIST1H4H_uc003nhl.1_Non-coding_Transcript|TRNA_Met_uc021ymu.1_5'Flank	NM_003543	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4h (HIST1H4H), mRNA.	46					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GGCCAGAAATTCGCTTGACAC	0.547000										HNSCC(76;0.23)			11	124					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75814962	75814962	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:75814962G>A	uc021zbv.1	-	52	8260	c.8225C>T	c.(8224-8226)aCa>aTa	p.T2742I	COL12A1_uc021zbw.1_Missense_Mutation_p.T1578I|COL12A1_uc003phs.3_Missense_Mutation_p.T2742I|COL12A1_uc003pht.3_Missense_Mutation_p.T1578I	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2742	Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.C2741C(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCTGTCCTGTGTACATGTGCA	0.378000													4	48					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6262661	6262661	+	Splice_Site	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:6262661G>A	uc001mco.3	+	5	1033	c.918_splice	c.e5-1	p.W306_splice	CNGA4_uc010raa.2_Splice_Site_p.W75_splice|CNGA4_uc001mcn.3_Splice_Site_p.W266_splice	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	306					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACTCTCAGGTATCAGCACC	0.552000													21	110					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr17:4619828A>C	uc010vsg.2	+	4	510	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_uc002fyj.3_Silent_p.P94P|ARRB2_uc002fyk.3_Silent_p.P79P|ARRB2_uc002fyl.3_Silent_p.P94P|ARRB2_uc002fym.3_Silent_p.P79P|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	94					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667000													6	27					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2545	2545	+	RNA	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chrGL000237.1:2545G>A	uc011mgu.1	-	0		c.142C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccagccgcgctgccatctc	0.627000													12	23					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													6	70					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72028171	72028171	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:72028171C>T	uc001osj.3	-	7	1107	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	CLPB_uc010rqx.2_Missense_Mutation_p.A308T|CLPB_uc010rqy.2_Missense_Mutation_p.A294T|CLPB_uc001osk.3_Missense_Mutation_p.A323T|CLPB_uc010rqz.2_Missense_Mutation_p.A152T	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	353					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTGGCGATGGCGCTCTCCTGG	0.612000													4	171					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569195	53569195	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr8:53569195G>A	uc003xre.4	-	14	3752	c.3194C>T	c.(3193-3195)gCg>gTg	p.A1065V	RB1CC1_uc003xrf.4_Missense_Mutation_p.A1065V	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1065					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCCTTCAACGCAAGTTCAAC	0.383000													3	44					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452394	10452394	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:10452394G>A	uc003bvt.3	-	2	744	c.305C>T	c.(304-306)gCg>gTg	p.A102V	ATP2B2_uc003bvv.3_Missense_Mutation_p.A102V|ATP2B2_uc003bvw.3_Missense_Mutation_p.A102V|ATP2B2_uc010hdp.2_Missense_Mutation_p.A102V|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	102					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCCTGCAGCGCCTCCCACAC	0.562000													31	490					0	0	1	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456444	30456444	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr16:30456444G>A	uc021tgl.1	-	0	781	c.605C>T	c.(604-606)gCg>gTg	p.A202V	SEPHS2_uc002dyh.1_Missense_Mutation_p.A145V	NM_012248		Q99611	SPS2_HUMAN	Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA.	202					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TTCCTCAGCCGCATCCCGAAA	0.527000													4	128					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24564490	24564490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:24564490G>A	uc011djo.2	-	14	2871	c.2371C>T	c.(2371-2373)Cga>Tga	p.R791*	KIAA0319_uc011djp.2_Nonsense_Mutation_p.R746*|KIAA0319_uc003neh.1_Nonsense_Mutation_p.R791*|KIAA0319_uc011djq.1_Nonsense_Mutation_p.R782*|KIAA0319_uc011djr.1_Nonsense_Mutation_p.R791*|KIAA0319_uc010jpt.1_Nonsense_Mutation_p.R202*	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	791	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCGGTGACTCGCAAGTGGAAA	0.587000													4	71					0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55831946	55831946	+	Silent	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:55831946A>G	uc010esw.1	-	3	281	c.108T>C	c.(106-108)agT>agC	p.S36S	TMEM150B_uc010yfu.1_Silent_p.S36S|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript|TMEM150B_uc002qki.3_Silent_p.S36S	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	36						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GAAAGCCTTTACTGAGGTCCA	0.527000													5	171					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35778739	35778739	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:35778739G>A	uc011axy.2	+	13	1639	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	ARPP21_uc003cga.3_Missense_Mutation_p.R456Q|ARPP21_uc003cgb.3_Missense_Mutation_p.R510Q|ARPP21_uc003cgf.3_Missense_Mutation_p.R311Q|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	510						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCCCCTGCGAAGCGCCATG	0.612000													11	108					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730757	5730757	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:5730757T>G	uc001mbr.3	+	7	1755	c.1376T>G	c.(1375-1377)gTc>gGc	p.V459G	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.V287G|TRIM22_uc009yes.3_Missense_Mutation_p.V455G|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	459	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TTTTTCAATGTCACAAACCAC	0.463000													12	157					0	0	1	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250482	26250482	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:26250482C>T	uc003nhg.1	-	0	354	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	HIST1H2BH_uc003nhh.3_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	118					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						ATGATAGTCACTCGCTTGGCG	0.582000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	119					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2525	2525	+	RNA	SNP	C	C	T			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chrGL000237.1:2525C>T	uc011mgu.1	-	0		c.162G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctcaggccaccctcctaacac	0.637000													12	25					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310305	24310305	+	Silent	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:24310305A>G	uc002nru.3	+	3	1637	c.1503A>G	c.(1501-1503)caA>caG	p.Q501Q	ZNF254_uc010xrk.2_Silent_p.Q416Q	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	501					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAATCCTCAACCC	0.403000													4	77					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346947	71346947	+	Silent	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:71346947A>G	uc011cat.2	+	3	774	c.486A>G	c.(484-486)ccA>ccG	p.P162P	MUC7_uc011cau.2_Silent_p.P162P|MUC7_uc003hfj.3_Silent_p.P162P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	162	Thr-rich.			P -> A (in Ref. 4; AA sequence and 5; AA sequence).		extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCCAGCTCCACAAGACACCA	0.517000													5	190					0	0	1	0	0
CEP170P1	645455	broad.mit.edu	37	4	119461491	119461491	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:119461491G>C	uc003icb.3	+	3	388	c.304G>C	c.(304-306)Gag>Cag	p.E102Q						Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA.																		TCAAGCAGCAGAGCCTCCCGA	0.448000													7	29					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935562	56935562	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:56935562G>A	uc010ygl.1	+	4	1700	c.1535G>A	c.(1534-1536)aGa>aAa	p.R512K	ZNF583_uc002qnc.2_Missense_Mutation_p.R512K|ZNF583_uc010ygm.1_Missense_Mutation_p.R512K	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTACATCAGAGAATTCATACT	0.388000													19	104					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137569739	137569739	+	Splice_Site	SNP	A	A	G			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr7:137569739A>G	uc003vtw.3	-	10	1666	c.1270_splice	c.e10+1	p.V424_splice	CREB3L2_uc003vtx.2_Silent_p.G424G|CREB3L2_uc003vtv.3_Splice_Site_p.V361_splice	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	424					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ATGCTGTCTTACCCACGGAGG	0.522000			T	FUS	fibromyxoid sarcoma								22	140					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836289	47836289	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr21:47836289A>C	uc002zji.4	+	29	6564	c.6457A>C	c.(6457-6459)Aat>Cat	p.N2153H	PCNT_uc002zjj.3_Missense_Mutation_p.N2035H	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2153					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGTGATGCCAATACAACCCC	0.443000													22	95					0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384397	8384397	+	RNA	SNP	C	C	T			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr12:8384397C>T	uc010sgk.2	-	4		c.1391G>A								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CCCCAGGGCCCCTGCTGTCCT	0.587000													5	70					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30053865	30053865	+	Silent	SNP	C	C	T			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr15:30053865C>T	uc001zcr.3	-	6	1276	c.801G>A	c.(799-801)acG>acA	p.T267T	TJP1_uc010azl.3_Silent_p.T255T|TJP1_uc001zcq.3_Silent_p.T271T|TJP1_uc001zcs.3_Silent_p.T267T	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	267					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CATTCAATAGCGTAGCCCGTT	0.418000													12	76					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355594	33355594	+	Missense_Mutation	SNP	G	G	A	rs146154087		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:33355594G>A	uc002ntv.4	-	2	293	c.176C>T	c.(175-177)aCg>aTg	p.T59M	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.T59M|SLC7A9_uc021usa.1_Missense_Mutation_p.T59M|SLC7A9_uc002ntw.4_Intron	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	59					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGCTTCCGTGTTGCTGAG	0.612000													5	230					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557031	214557031	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:214557031delG	uc001hkk.2	-	12	2820	c.2167delC	c.(2167-2169)cagfs	p.Q723fs	PTPN14_uc021piy.1_Frame_Shift_Del_p.Q487fs|PTPN14_uc010pty.2_Frame_Shift_Del_p.Q624fs	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	723					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATGGGGATCTGGGGCACCGAT	0.617													9	98	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:190873437_190873439delAAG	uc003izs.3	+	2	445_447	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	86					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													8	234	---	---	---	---					
RASGEF1A	221002	broad.mit.edu	37	10	43698747	43698747	+	Splice_Site	DEL	T	T	-			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:43698747delT	uc001jao.1	-	3	430	c.345_splice	c.e3+1	p.K115_splice	RASGEF1A_uc001jap.1_Splice_Site_p.K107_splice	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	Homo sapiens RasGEF domain family, member 1A (RASGEF1A), mRNA.	107	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCGCCTCACCTTTTCAGGCCC	0.697													2	4	---	---	---	---					
B4GALNT4	338707	broad.mit.edu	37	11	376692	376692	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:376692delA	uc001lpb.3	+	13	1578	c.1569delA	c.(1567-1569)ccafs	p.P523fs		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	523	Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCGCCCCCAAAGGTGTACG	0.771													2	4	---	---	---	---					
MYO7A	4647	broad.mit.edu	37	11	76901186	76901186	+	Splice_Site	DEL	T	T	-			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:76901186delT	uc001oyb.2	+	29	4022	c.3750_splice	c.e29+2	p.Q1250_splice	MYO7A_uc010rsm.1_Splice_Site_p.Q1239_splice|MYO7A_uc001oyc.2_Splice_Site_p.Q1250_splice|MYO7A_uc009yus.1_Splice_Site|MYO7A_uc009yut.1_Splice_Site_p.Q461_splice	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1250	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGCTGCAGGTTCgtgcgtgt	0.622													2	4	---	---	---	---					
