Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C16orf70	80262	broad.mit.edu	37	16	67168085	67168085	+	Silent	SNP	T	C	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr16:67168085T>C	uc002erd.3	+	6	629	c.465T>C	c.(463-465)caT>caC	p.H155H	C16orf70_uc002erc.3_Silent_p.H155H|C16orf70_uc002ere.1_Silent_p.H230H	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	155										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATTTTGCCCATGGCCTGGCTT	0.483000														96			38		0	0	0.000106405	0	0
NAA16	79612	broad.mit.edu	37	13	41905433	41905433	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr13:41905433A>T	uc001uyf.2	+	7	1159	c.835A>T	c.(835-837)Att>Ttt	p.I279F	NAA16_uc010tfg.1_Non-coding_Transcript|NAA16_uc001uye.4_Missense_Mutation_p.I279F|NAA16_uc001uyd.4_Missense_Mutation_p.I279F	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	279					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GAGGCTTCAAATTTATGAAGA	0.318000														74			39		0	0	0.000270559	0	0
CCDC144C	348254	broad.mit.edu	37	17	20243242	20243242	+	RNA	SNP	A	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr17:20243242A>T	uc010cqy.1	+	4		c.1331A>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						AGCTTCATTTACATGAAAATA	0.358000														78			36		0	0	0.000147903	0	0
RCC1	1104	broad.mit.edu	37	1	28862497	28862497	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr1:28862497G>A	uc001bqb.2	+	9	1175	c.776G>A	c.(775-777)gGc>gAc	p.G259D	RCC1_uc001bqa.2_Missense_Mutation_p.G259D|RCC1_uc001bqc.2_Missense_Mutation_p.G259D|RCC1_uc001bqe.2_Missense_Mutation_p.G276D|RCC1_uc001bqf.2_Missense_Mutation_p.G290D|RCC1_uc001bqg.2_Missense_Mutation_p.G259D	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	259					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCATGAGGGCCACGTGTAC	0.592000														58			5		0	0	1.23904e-05	0	0
DGKG	1608	broad.mit.edu	37	3	186006591	186006591	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:186006591G>A	uc003fqa.3	-	5	989	c.452C>T	c.(451-453)tCt>tTt	p.S151F	DGKG_uc003fqb.3_Missense_Mutation_p.S151F|DGKG_uc003fqc.3_Missense_Mutation_p.S151F|DGKG_uc011brx.2_Missense_Mutation_p.S151F	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	151	Poly-Ser.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGAGCTTGAAGACCGAGGGAC	0.552000														259			78		0	0	0.000147903	0	0
HGD	3081	broad.mit.edu	37	3	120366724	120366724	+	Splice_Site	SNP	C	G	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:120366724C>G	uc003edw.3	-	7	929	c.469_splice	c.e7+1	p.V157_splice	HGD_uc003edv.3_Splice_Site_p.V16_splice	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	157					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CAGAACTCACCAATCAAGAAG	0.353000														204			5		0	0	8.12818e-05	0	0
C7orf57	136288	broad.mit.edu	37	7	48081007	48081007	+	Silent	SNP	C	A	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr7:48081007C>A	uc003toh.4	+	2	344	c.132C>A	c.(130-132)ctC>ctA	p.L44L	C7orf57_uc003toi.4_5'UTR	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	44										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TCCCAGGTCTCAGCAATTTGG	0.542000														37			36		5.43694e-19	2.94921e-17	0.000191422	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57085299	57085299	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr11:57085299G>A	uc001njr.3	-	2	1103	c.791C>T	c.(790-792)cCt>cTt	p.P264L	TNKS1BP1_uc001njs.3_Missense_Mutation_p.P264L|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	264	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CACATCAGCAGGTAGCTCCGA	0.502000														34			7		0	0	0.000157383	0	0
ZNF619	285267	broad.mit.edu	37	3	40529349	40529349	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:40529349C>T	uc011azb.2	+	5	1775	c.1468C>T	c.(1468-1470)Cac>Tac	p.H490Y	ZNF619_uc011aza.2_Missense_Mutation_p.H392Y|ZNF619_uc011azc.2_Missense_Mutation_p.H450Y|ZNF619_uc011azd.2_Missense_Mutation_p.H406Y|ZNF619_uc003ckj.3_Missense_Mutation_p.H434Y|ZNF619_uc021wwh.1_Missense_Mutation_p.H441Y	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	490					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCAGCGAGTTCACACTGGGGA	0.463000														44			54		0	0	0.000147903	0	0
POLQ	10721	broad.mit.edu	37	3	121168266	121168266	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:121168266T>C	uc003eee.4	-	25	7289	c.7160A>G	c.(7159-7161)tAt>tGt	p.Y2387C	POLQ_uc003eed.3_Missense_Mutation_p.Y1559C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2387					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AATGATCCCATAGCAAATCTG	0.358000								DNA polymerases (catalytic subunits)						166			158		0	0	0.000147903	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445350	29445350	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr22:29445350T>C	uc003aeg.3	+	7	1181	c.1181T>C	c.(1180-1182)gTc>gCc	p.V394A	ZNRF3_uc021wnq.1_Missense_Mutation_p.V294A	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	394						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGCAACCCCGTCACCTTGCTG	0.667000														34			13		0	0	0.000151284	0	0
POP1	10940	broad.mit.edu	37	8	99161148	99161148	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr8:99161148G>A	uc003yij.4	+	12	1916	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	POP1_uc011lgv.2_Missense_Mutation_p.V606M|POP1_uc003yik.3_Missense_Mutation_p.V606M	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	606					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCCAGGAAAAGTGACTGGTGA	0.478000														23			15		0	0	2.31682e-05	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904139	21904139	+	RNA	SNP	T	G	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr17:21904139T>G	uc002gza.2	+	0		c.78T>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ccgagcaggatgaggaaacca	0.692000														40			3		0	0	0.00024832	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	G	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr6:45390466A>G	uc011dvx.2	+	2	405	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_uc011dvy.2_Silent_p.Q65Q|RUNX2_uc003oxt.3_Silent_p.Q51Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000														34			4		0	0	0.00024832	0	0
RPL29	6159	broad.mit.edu	37	3	52029445	52029445	+	Silent	SNP	G	A	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:52029445G>A	uc003dcs.3	-	1	127	c.33C>T	c.(31-33)aaC>aaT	p.N11N		NM_000992	NP_000983	P47914	RL29_HUMAN	Homo sapiens ribosomal protein L29 (RPL29), mRNA.	11					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|protein binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTTACACTGGTTGTGTGTGG	0.567000														64			22		0	0	4.16121e-05	0	0
DLGAP1	9229	broad.mit.edu	37	18	3499238	3499238	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr18:3499238G>T	uc002kmf.3	-	12	3406	c.2879C>A	c.(2878-2880)aCc>aAc	p.T960N	DLGAP1_uc010dkn.3_Missense_Mutation_p.T668N|DLGAP1_uc002kme.2_Missense_Mutation_p.T658N|DLGAP1_uc010wyw.2_Missense_Mutation_p.T666N|DLGAP1_uc010wyx.2_Missense_Mutation_p.T682N|DLGAP1_uc010wyy.2_Missense_Mutation_p.T644N	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	960					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCGCTCTCGGTGGCCGAGTT	0.731000														14			5		5.9392e-07	3.002e-05	3.59834e-05	1	0
TEP1	7011	broad.mit.edu	37	14	20841196	20841196	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr14:20841196C>T	uc001vxe.3	-	47	6965	c.6925G>A	c.(6925-6927)Gaa>Aaa	p.E2309K	TEP1_uc010ahj.1_Non-coding_Transcript|TEP1_uc010ahk.3_Missense_Mutation_p.E1652K|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.E2201K|TEP1_uc010tlh.1_Missense_Mutation_p.E647K	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2309					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCTTAGCTTCCTGCCACAAG	0.517000														45			32		0	0	0.000109025	0	0
NDNL2	56160	broad.mit.edu	37	15	29561225	29561225	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr15:29561225G>C	uc001zco.3	-	0	796	c.685C>G	c.(685-687)Cga>Gga	p.R229G	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	Homo sapiens necdin-like 2 (NDNL2), mRNA.	229	MAGE.				regulation of growth	cytoplasm|nucleus		p.R229*(2)		breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TAACGCTGTCGCACAAAGTCC	0.532000														71			42		0	0	8.96297e-05	0	0
ERAL1	26284	broad.mit.edu	37	17	27182278	27182278	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr17:27182278T>C	uc002hcy.1	+	0	236	c.226T>C	c.(226-228)Ttc>Ctc	p.F76L	ERAL1_uc002hcx.1_Missense_Mutation_p.F76L|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	76					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTTCCTCGGATTCTCTCAGCC	0.602000														34			49		0	0	0.000147903	0	0
ITGAX	3687	broad.mit.edu	37	16	31383749	31383749	+	Silent	SNP	G	A	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr16:31383749G>A	uc002ebt.3	+	17	2278	c.2211G>A	c.(2209-2211)acG>acA	p.T737T	ITGAX_uc002ebu.1_Silent_p.T737T	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	737					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGAACTTCACGCTGGTGGGCA	0.637000														54			56		0	0	0.000147903	0	0
KLHL8	57563	broad.mit.edu	37	4	88091355	88091355	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr4:88091355C>T	uc011cdb.1	-	7	1798	c.1413G>A	c.(1411-1413)atG>atA	p.M471I	KLHL8_uc003hql.1_Missense_Mutation_p.M471I|KLHL8_uc003hqm.1_Missense_Mutation_p.M395I|KLHL8_uc003hqn.1_Missense_Mutation_p.M288I|KLHL8_uc010ikj.1_Missense_Mutation_p.M120I	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	471										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATAAAGAAGCCATTCCATCAT	0.368000														98			7		0	0	1.12685e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458888	120458888	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr1:120458888A>T	uc001eik.3	-	33	6754	c.6457T>A	c.(6457-6459)Tcc>Acc	p.S2153T		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2153					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTCTAGGGAATCAACAGGG	0.498000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					57			30		0	0	3.70037e-05	0	0
NBPF10	100132406	broad.mit.edu	37	1	144823878	144823878	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr1:144823878A>C	uc009wig.1	+	15	2107	c.1913A>C	c.(1912-1914)tAt>tCt	p.Y638S	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.Y441S|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.Y300S	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	640										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TATAGATGTTATTCAACTCCT	0.483000														72			3		0	0	0.00024832	0	0
BEND2	139105	broad.mit.edu	37	X	18195783	18195783	+	Silent	SNP	A	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chrX:18195783A>T	uc004cyj.4	-	9	1690	c.1536T>A	c.(1534-1536)atT>atA	p.I512I	BEND2_uc010nfb.2_Silent_p.I421I	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	512	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGGAGAACAAAATACGAACCA	0.428000														66			180		0	0	0.000147903	0	0
ST7	7982	broad.mit.edu	37	7	116863027	116863027	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr7:116863027A>G	uc003vin.3	+	15	1965	c.1751A>G	c.(1750-1752)cAa>cGa	p.Q584R	ST7_uc011knl.2_Missense_Mutation_p.Q561R|ST7_uc003vio.3_Intron|ST7_uc003viq.3_Intron|ST7_uc011knm.2_Intron|ST7_uc003vir.3_Intron	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	584						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		caacatttccaaaactgaact	0.517000														39			36		0	0	0.000109025	0	0
KPNA4	3840	broad.mit.edu	37	3	160249255	160249255	+	Silent	SNP	A	G	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:160249255A>G	uc003fdn.3	-	5	684	c.378T>C	c.(376-378)gaT>gaC	p.D126D		NM_002268	NP_002259	O00629	IMA4_HUMAN	Homo sapiens karyopherin alpha 4 (importin alpha 3) (KPNA4), mRNA.	126					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTCACTTGTCATCTCTTTCAA	0.303000														92			100		0	0	0.000147903	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40698	40698	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chrGL000218.1:40698G>A	uc011mfn.2	-	2	321	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	LOC100233156_uc003jah.2_Missense_Mutation_p.R78C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TCACAGCGGCGCCCGAAGGCC	0.672000														10			4		0	0	3.59834e-05	0	0
MUC4	4585	broad.mit.edu	37	3	195516451	195516451	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr3:195516451G>C	uc021xjp.1	-	1	2156	c.2000C>G	c.(1999-2001)cCa>cGa	p.P667R	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.P549R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	672					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGAAGAACCTGGGGTGGTGAC	0.572000														138			4		0	0	1.23904e-05	0	0
NR2F2	7026	broad.mit.edu	37	15	96877563	96877563	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr15:96877563C>G	uc010uri.2	+	1	1925	c.701C>G	c.(700-702)cCc>cGc	p.P234R	NR2F2_uc002btp.3_Missense_Mutation_p.P101R|NR2F2_uc010urj.2_Missense_Mutation_p.P81R|NR2F2_uc010urk.2_Missense_Mutation_p.P81R	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	234	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.P234P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCCTTCTTCCCCGACCTGCAG	0.617000														126			5		0	0	3.59834e-05	0	0
MYH13	8735	broad.mit.edu	37	17	10267725	10267725	+	Silent	SNP	C	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr17:10267725C>T	uc002gmk.1	-	2	213	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	41	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTTATTATCCGCTACAAAGC	0.453000														44			10		0	0	0.00010058	0	0
SVEP1	79987	broad.mit.edu	37	9	113163288	113163288	+	Splice_Site	SNP	A	C	C			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr9:113163288A>C	uc010mtz.3	-	40	10004	c.9667_splice	c.e40-1	p.L3223_splice	SVEP1_uc010mty.3_Splice_Site_p.L1149_splice	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3223	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGTTCCATCAAGCTAAGTGAC	0.358000														60			26		0	0	0.000227799	0	0
EPHA8	2046	broad.mit.edu	37	1	22903099	22903099	+	Silent	SNP	G	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr1:22903099G>T	uc001bfx.1	+	2	674	c.549G>T	c.(547-549)ctG>ctT	p.L183L	EPHA8_uc001bfw.3_Silent_p.L183L	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	183						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTTCTACCTGGCCTTCCAGG	0.617000														37			22		6.44725e-10	3.33458e-08	3.10358e-05	1	0
TMC5	79838	broad.mit.edu	37	16	19490814	19490814	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr16:19490814C>G	uc002dgc.4	+	13	2980	c.2231C>G	c.(2230-2232)tCt>tGt	p.S744C	TMC5_uc010vaq.2_Missense_Mutation_p.S692C|TMC5_uc002dgb.4_Missense_Mutation_p.S744C|TMC5_uc010var.2_Missense_Mutation_p.S744C|TMC5_uc002dgd.1_Missense_Mutation_p.S498C|TMC5_uc002dge.4_Missense_Mutation_p.S498C|TMC5_uc002dgf.4_Missense_Mutation_p.S427C|TMC5_uc002dgg.4_Missense_Mutation_p.S385C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	744						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTGTGTTCTCTTTAGTCAAT	0.473000														223			94		0	0	0.000147903	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928906	32928906	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr15:32928906T>G	uc001zgy.1	+	11	2654	c.1932T>G	c.(1930-1932)ttT>ttG	p.F644L	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.F455L|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.F455L	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	644					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AAAATCTATTTGAAACTAATG	0.358000														18			23		0	0	4.16121e-05	0	0
KDM6A	7403	broad.mit.edu	37	X	44733231	44733231	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chrX:44733231A>T	uc011mkz.2	+	1	598	c.223A>T	c.(223-225)Aag>Tag	p.K75*	KDM6A_uc022bvi.1_5'UTR|KDM6A_uc010nhk.2_Nonsense_Mutation_p.K75*|KDM6A_uc004dge.4_Nonsense_Mutation_p.K75*|KDM6A_uc011mla.2_Nonsense_Mutation_p.K75*|KDM6A_uc011mlb.2_Nonsense_Mutation_p.K75*|KDM6A_uc011mlc.2_5'UTR|KDM6A_uc022bvj.1_Nonsense_Mutation_p.K75*|KDM6A_uc022bvk.1_Non-coding_Transcript	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	75					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(8)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCTACTGGGCAAGGTAAGGCA	0.657000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""									3			6		0	0	0.000157383	0	0
MUL1	79594	broad.mit.edu	37	1	20827614	20827614	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr1:20827614delG	uc001bdi.4	-	3	785	c.628delC	c.(628-630)ctgfs	p.L210fs		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	210					activation of JUN kinase activity|activation of caspase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GGCGGCTGCAGGCGGACAGAG	0.607													---	98	---	---	45	---					
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	-	-	rs71796067		TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													---	4	---	---	2	---					
LRBA	987	broad.mit.edu	37	4	151271258	151271259	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr4:151271258_151271259insAT	uc010ipj.3	-	48	7524_7525	c.7280_7281insAT	c.(7279-7281)attfs	p.I2427fs	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Frame_Shift_Ins_p.I317fs|LRBA_uc003ilt.4_Frame_Shift_Ins_p.I1075fs|LRBA_uc003ilu.4_Frame_Shift_Ins_p.I2416fs	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2427	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATAGCCAAAAATGAGATCAAT	0.391													---	58	---	---	12	---					
NSD1	64324	broad.mit.edu	37	5	176637880	176637880	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr5:176637880delT	uc003mfr.4	+	4	2618	c.2480delT	c.(2479-2481)attfs	p.I827fs	NSD1_uc003mft.4_Frame_Shift_Del_p.I558fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.I724fs|NSD1_uc011dfx.2_Frame_Shift_Del_p.I475fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	827					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGGCCAGCATTTCTAAAAGT	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			---	37	---	---	13	---					
MYO6	4646	broad.mit.edu	37	6	76542650	76542650	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr6:76542650delA	uc003pih.1	+	5	762	c.483delA	c.(481-483)acafs	p.T161fs	MYO6_uc003pig.1_Frame_Shift_Del_p.T161fs|MYO6_uc003pii.1_Frame_Shift_Del_p.T161fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	161	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGAAAATACAAAATTTGTTC	0.413													---	99	---	---	43	---					
KBTBD4	55709	broad.mit.edu	37	11	47597183	47597183	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr11:47597183delT	uc001nfx.3	-	2	829	c.658delA	c.(658-660)agafs	p.R220fs	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Frame_Shift_Del_p.R245fs|KBTBD4_uc001nfz.3_Frame_Shift_Del_p.R236fs|KBTBD4_uc001nfy.3_Frame_Shift_Del_p.R220fs	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	220	BACK.							p.R220K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						AAAGCCTCTCTTTCCTCTTTA	0.443													---	136	---	---	44	---					
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr16:24807240delA	uc002dmm.3	+	8	3655	c.3541delA	c.(3541-3543)aaafs	p.K1181fs	TNRC6A_uc010bxs.3_Frame_Shift_Del_p.K928fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmn.3_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmo.3_Frame_Shift_Del_p.K869fs	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1181	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398													---	316	---	---	7	---					
ZNF559	84527	broad.mit.edu	37	19	9453288	9453288	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7060-01A-11D-1961-08	TCGA-BQ-7060-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a023a28-7d8a-4390-995a-a2a91db99ceb	4a037b1b-bb44-4cec-83b6-2c926f8e4859	g.chr19:9453288delA	uc002mle.4	+	5	1760	c.1353delA	c.(1351-1353)ggafs	p.G451fs	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Frame_Shift_Del_p.G345fs|ZNF559_uc010xkn.2_Frame_Shift_Del_p.G379fs|ZNF559_uc021uok.1_Frame_Shift_Del_p.G387fs|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AGGAATGTGGAAAAGCCTTTA	0.393													---	54	---	---	20	---					
