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
PIK3CD	5293	broad.mit.edu	37	1	9782066	9782066	+	Missense_Mutation	SNP	G	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:9782066G>T	uc001aqe.4	+	15	2369	c.2161G>T	c.(2161-2163)Gac>Tac	p.D721Y	PIK3CD_uc001aqb.4_Missense_Mutation_p.D697Y|PIK3CD_uc010oaf.2_Missense_Mutation_p.D696Y|PIK3CD_uc021ogb.1_Missense_Mutation_p.D481Y	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	697					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCCTGAATGACTTCGTCAA	0.637000											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			21		1.10513e-12	5.41035e-11	0.000295444	1	0
TTN	7273	broad.mit.edu	37	2	179425266	179425266	+	Silent	SNP	A	G	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr2:179425266A>G	uc021vsy.1	-	274	78114	c.77889T>C	c.(77887-77889)taT>taC	p.Y25963Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y19658Y|TTN_uc021vta.1_Silent_p.Y19591Y|TTN_uc021vtb.1_Silent_p.Y19466Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26890	Fibronectin type-III 89.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCAACACCATATTTATTAA	0.388000														31			17		0	0	0.000958276	0	0
KRT6A	3853	broad.mit.edu	37	12	52882316	52882316	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr12:52882316G>A	uc001sam.3	-	6	1429	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	407	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCAATGGCGGCCTGCAGGTT	0.557000														49			25		0	0	0.000375601	0	0
ZIK1	284307	broad.mit.edu	37	19	58101980	58101980	+	Missense_Mutation	SNP	G	C	C			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr19:58101980G>C	uc002qpg.3	+	3	898	c.801G>C	c.(799-801)tgG>tgC	p.W267C	ZIK1_uc002qph.3_Missense_Mutation_p.W212C|ZIK1_uc002qpi.3_Missense_Mutation_p.W254C|ZIK1_uc002qpj.3_Missense_Mutation_p.W164C	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGGCCTTGGGAGTGCAATG	0.473000														42			9		0	0	0.000442599	0	0
SYT5	6861	broad.mit.edu	37	19	55685920	55685920	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr19:55685920C>T	uc002qjm.1	-	6	1985	c.925G>A	c.(925-927)Gct>Act	p.A309T	SYT5_uc002qjp.2_Missense_Mutation_p.A305T|SYT5_uc002qjn.1_Missense_Mutation_p.A309T|SYT5_uc002qjo.1_Missense_Mutation_p.A308T	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	309	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AAGCTGAAAGCTTCGTTGTAA	0.527000														161			54		0	0	0.000781405	0	0
ITIH6	347365	broad.mit.edu	37	X	54777529	54777529	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chrX:54777529G>A	uc004dtj.2	-	11	3667	c.3637C>T	c.(3637-3639)Cgc>Tgc	p.R1213C		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1213					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGCCTGTAGCGGTGTCGGAGG	0.632000														21			10		0	0	0.000978159	0	0
ITGA8	8516	broad.mit.edu	37	10	15688933	15688933	+	Silent	SNP	G	A	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr10:15688933G>A	uc001ioc.1	-	11	1119	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	ITGA8_uc010qcb.1_Silent_p.D358D	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	373					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.D373V(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGATCTGGGGGTCTCTGAAGA	0.483000														71			19		0	0	0.000175454	0	0
MED12	9968	broad.mit.edu	37	X	70349198	70349198	+	Missense_Mutation	SNP	G	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chrX:70349198G>T	uc004dyy.3	+	25	3809	c.3610G>T	c.(3610-3612)Gac>Tac	p.D1204Y	MED12_uc011mpq.1_Missense_Mutation_p.D1204Y|MED12_uc004dyz.3_Missense_Mutation_p.D1204Y|MED12_uc004dza.3_Missense_Mutation_p.D1051Y|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1204					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTCCTCCTGCGACCGCCACCT	0.572000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			12		2.27111e-07	1.0882e-05	0.00010058	1	0
NPAS4	266743	broad.mit.edu	37	11	66191471	66191471	+	Silent	SNP	C	A	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr11:66191471C>A	uc001ohx.1	+	6	1286	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	NPAS4_uc010rpc.1_Silent_p.P160P	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	370					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGGGGGCTCCCAGAAGCACCA	0.552000														188			8		0.000157383	0.00723321	0.000157383	1	0
USP25	29761	broad.mit.edu	37	21	17138432	17138432	+	Nonsense_Mutation	SNP	C	G	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr21:17138432C>G	uc011aby.1	+	2	457	c.240C>G	c.(238-240)taC>taG	p.Y80*	USP25_uc002yjz.1_Nonsense_Mutation_p.Y80*|USP25_uc010gla.1_Nonsense_Mutation_p.Y80*|USP25_uc002yjy.1_Nonsense_Mutation_p.Y80*	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	80	SUMO interaction domain (SIM).				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATGATAGATACATCAGTGTGG	0.368000														67			4		0	0	0.00024832	0	0
SLC9C1	285335	broad.mit.edu	37	3	111918287	111918287	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr3:111918287C>T	uc003dyu.3	-	19	2626	c.2404G>A	c.(2404-2406)Gct>Act	p.A802T	SLC9C1_uc011bhu.2_Missense_Mutation_p.A65T|SLC9C1_uc010hqc.3_Missense_Mutation_p.A754T	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	802					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ACAGTGACAGCAATTTCTGGG	0.279000														39			40		0	0	0.000319135	0	0
TUBB7P	56604	broad.mit.edu	37	4	190904404	190904404	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr4:190904404T>C	uc011clg.2	-	3	581	c.363A>G	c.(361-363)atA>atG	p.I121M				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	193					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										CTGCGTTTTCTATGAGCTGGT	0.507000														70			3		0	0	6.4e-05	0	0
PDILT	204474	broad.mit.edu	37	16	20376785	20376785	+	Silent	SNP	G	A	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr16:20376785G>A	uc002dhc.1	-	8	1417	c.1194C>T	c.(1192-1194)aaC>aaT	p.N398N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	398	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGACGACTACGTTGAAGTTCT	0.448000														109			31		0	0	0.000692331	0	0
ALAS2	212	broad.mit.edu	37	X	55051151	55051151	+	Splice_Site	SNP	C	A	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chrX:55051151C>A	uc004dua.4	-	3	442	c.304_splice	c.e3+1	p.D102_splice	ALAS2_uc004dub.4_Splice_Site_p.G126_splice|ALAS2_uc004dud.4_Splice_Site_p.G102_splice	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	102					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TGACTCCAACCTGTCTTGAAA	0.493000														130			6		8.12818e-05	0.00381347	8.12818e-05	1	0
SFRP5	6425	broad.mit.edu	37	10	99527530	99527530	+	Missense_Mutation	SNP	G	T	T	rs147990230	by1000genomes	TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr10:99527530G>T	uc001kor.4	-	2	861	c.695C>A	c.(694-696)cCg>cAg	p.P232Q		NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN	Homo sapiens secreted frizzled-related protein 5 (SFRP5), mRNA.	232	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CAGGGGGCCCGGCTTGAGCAG	0.587000														43			39		4.92203e-23	2.70351e-21	0.000228196	1	0
CNIH2	254263	broad.mit.edu	37	11	66049735	66049735	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr11:66049735A>G	uc001ohi.1	+	1	319	c.87A>G	c.(85-87)atA>atG	p.I29M	CNIH2_uc009yrb.1_Non-coding_Transcript	NM_182553	NP_872359	Q6PI25	CNIH2_HUMAN	Homo sapiens cornichon homolog 2 (Drosophila) (CNIH2), mRNA.	29					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCAGATCATAGCCTTTGATG	0.597000														25			8		0	0	0.000442599	0	0
ERP29	10961	broad.mit.edu	37	12	112451270	112451270	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr12:112451270A>G	uc001ttk.1	+	0	119	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ERP29_uc001ttl.1_Missense_Mutation_p.M1V|TMEM116_uc001ttd.2_5'Flank|TMEM116_uc001tte.2_5'Flank|TMEM116_uc001ttf.2_5'Flank|TMEM116_uc001ttc.2_5'Flank|TMEM116_uc001tti.2_5'Flank|TMEM116_uc001ttj.1_5'Flank	NM_006817	NP_006808	P30040	ERP29_HUMAN	Homo sapiens endoplasmic reticulum protein 29 (ERP29), transcript variant 1, mRNA.	1					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						ACCCGGCGATATGGCTGCCGC	0.682000														68			3		0	0	0.00024832	0	0
RBBP7	5931	broad.mit.edu	37	X	16864059	16864059	+	Silent	SNP	A	G	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chrX:16864059A>G	uc004cxt.3	-	10	1459	c.1101T>C	c.(1099-1101)ttT>ttC	p.F367F	RBBP7_uc004cxs.2_Silent_p.F411F	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	Homo sapiens retinoblastoma binding protein 7 (RBBP7), transcript variant 2, mRNA.	367					CenH3-containing nucleosome assembly at centromere|DNA replication|cell proliferation|cellular heat acclimation|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CTCCATGAATAAACTGTTACA	0.363000														46			18		0	0	0.00074312	0	0
SMG1	23049	broad.mit.edu	37	16	18856756	18856756	+	Missense_Mutation	SNP	T	C	C	rs67721540		TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr16:18856756T>C	uc002dfm.3	-	38	6577	c.6214A>G	c.(6214-6216)Aaa>Gaa	p.K2072E	SMG1_uc010bwb.3_Missense_Mutation_p.K1932E|SMG1_uc010bwa.3_Missense_Mutation_p.K803E|SMG1_uc021ted.1_Missense_Mutation_p.K370E	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2072					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTACCTCTTTAAATGGAATC	0.408000														24			28		0	0	0.000184323	0	0
E4F1	1877	broad.mit.edu	37	16	2284711	2284711	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr16:2284711C>T	uc002cpm.3	+	10	1769	c.1721C>T	c.(1720-1722)cCg>cTg	p.P574L	E4F1_uc010bsi.3_Missense_Mutation_p.P574L|E4F1_uc010bsj.3_Missense_Mutation_p.P397L|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	574	Interaction with BMI1.|Mediates interaction with TP53.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GGCGAGAAGCCGTTCAAGTGC	0.667000														10			6		0	0	8.12818e-05	0	0
CUBN	8029	broad.mit.edu	37	10	16916468	16916468	+	Silent	SNP	G	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr10:16916468G>T	uc001ioo.3	-	57	9193	c.9141C>A	c.(9139-9141)atC>atA	p.I3047I	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Silent_p.I403I	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3047	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACTTGTGATGATTCCAGAAG	0.433000														58			20		5.26018e-13	2.63243e-11	0.000229342	1	0
TAS1R2	80834	broad.mit.edu	37	1	19186021	19186021	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:19186021A>T	uc001bba.1	-	0	135	c.134T>A	c.(133-135)aTg>aAg	p.M45K		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	45					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AATGCCCTTCATGTTGGCATG	0.592000														82			14		0	0	0.000308642	0	0
CKAP2L	150468	broad.mit.edu	37	2	113513875	113513875	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr2:113513875C>T	uc002tie.2	-	3	1152	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.S193N|CKAP2L_uc010yxq.1_Missense_Mutation_p.S193N	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	358						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ACAAACTTGGCTGGACTTCTG	0.428000														97			61		0	0	0.000781405	0	0
FCRL3	115352	broad.mit.edu	37	1	157667660	157667660	+	Silent	SNP	G	A	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:157667660G>A	uc001fqz.4	-	4	640	c.348C>T	c.(346-348)gtC>gtT	p.V116V	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.V116V|FCRL3_uc001frc.1_Silent_p.V116V	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	116	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATCTCAGAATGACATTGTCTC	0.423000														40			24		0	0	0.000295444	0	0
ZNF549	256051	broad.mit.edu	37	19	58049607	58049607	+	Missense_Mutation	SNP	C	G	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr19:58049607C>G	uc002qpb.2	+	3	1484	c.1235C>G	c.(1234-1236)aCg>aGg	p.T412R	ZNF549_uc002qpa.2_Missense_Mutation_p.T399R	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAATCCACACGGGAGAAAGG	0.433000														36			7		0	0	0.000157383	0	0
PRELP	5549	broad.mit.edu	37	1	203455866	203455866	+	Missense_Mutation	SNP	C	A	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:203455866C>A	uc001gzs.3	+	2	1206	c.1006C>A	c.(1006-1008)Cta>Ata	p.L336I	PRELP_uc001gzt.3_Missense_Mutation_p.L336I	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	336					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCCAACGACCTAGTGGCGTT	0.567000														67			24		2.08457e-15	1.09173e-13	0.000339439	1	0
NBEAL1	65065	broad.mit.edu	37	2	204058575	204058575	+	Missense_Mutation	SNP	G	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr2:204058575G>T	uc002uzt.3	+	45	7225	c.6892G>T	c.(6892-6894)Gac>Tac	p.D2298Y	NBEAL1_uc021vvj.1_Intron	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2298							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACCAAAATAGACACTTCAAC	0.343000														84			32		6.97489e-18	3.73987e-16	0.000953801	1	0
EXPH5	23086	broad.mit.edu	37	11	108380880	108380880	+	Nonsense_Mutation	SNP	C	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr11:108380880C>T	uc001pkk.3	-	5	5465	c.5354G>A	c.(5353-5355)tGg>tAg	p.W1785*	EXPH5_uc010rvz.2_Nonsense_Mutation_p.W1629*|EXPH5_uc010rvy.2_Nonsense_Mutation_p.W1597*	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1785					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCAGGTTCCCACTCCAGAGA	0.483000														46			34		0	0	0.000692331	0	0
OR4N4	283694	broad.mit.edu	37	15	22382930	22382930	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr15:22382930T>C	uc001yuc.1	+	6	1439	c.458T>C	c.(457-459)tTt>tCt	p.F153S	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.F153S	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTGGGGGTTTTGTCCACTCC	0.527000														187			27		0	0	0.000814825	0	0
ITGA4	3676	broad.mit.edu	37	2	182399601	182399601	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr2:182399601T>C	uc002unu.3	+	26	3705	c.2942T>C	c.(2941-2943)aTt>aCt	p.I981T	ITGA4_uc002unv.3_Missense_Mutation_p.I226T	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	981					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATAGTGATTATTTCAAGTAGC	0.313000														66			24		0	0	0.000720815	0	0
N4BP2	55728	broad.mit.edu	37	4	40103811	40103811	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr4:40103811A>G	uc003guy.4	+	3	684	c.346A>G	c.(346-348)Ata>Gta	p.I116V	N4BP2_uc010ifq.3_Missense_Mutation_p.I36V|N4BP2_uc010ifr.3_Missense_Mutation_p.I36V	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	116						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGAAAGTAAAATAATGGAAAA	0.368000														56			24		0	0	0.00047179	0	0
LRRC8C	84230	broad.mit.edu	37	1	90180336	90180336	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr1:90180336T>C	uc001dnl.4	+	2	2449	c.2207T>C	c.(2206-2208)aTt>aCt	p.I736T		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	736						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ACTCTGAAGATTGGAAAAAAC	0.353000														72			5		0	0	8.12818e-05	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135825892	135825892	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chrX:135825892A>T	uc004fab.3	-	4	975	c.513T>A	c.(511-513)ttT>ttA	p.F171L	ARHGEF6_uc011mwd.2_Missense_Mutation_p.F17L|ARHGEF6_uc011mwe.2_Missense_Mutation_p.F17L	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	171	SH3.				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TAGTCTGCTTAAAGTTGAATC	0.413000														106			43		0	0	0.000589545	0	0
KDM2B	84678	broad.mit.edu	37	12	122016841	122016841	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr12:122016841T>C	uc001uat.3	-	1	241	c.137A>G	c.(136-138)gAc>gGc	p.D46G	KDM2B_uc001uas.3_Missense_Mutation_p.D15G|KDM2B_uc021rfd.1_Missense_Mutation_p.D15G|KDM2B_uc001uau.3_5'UTR|KDM2B_uc021rfe.1_Missense_Mutation_p.D46G|KDM2B_uc001uav.4_Missense_Mutation_p.D46G	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	46					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGCTGGCGGTCAATCGGGCG	0.627000														143			6		0	0	0.000274275	0	0
OR5D16	390144	broad.mit.edu	37	11	55606711	55606711	+	Missense_Mutation	SNP	G	A	A	rs148923372	by1000genomes	TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr11:55606711G>A	uc010rio.2	+	0	484	c.484G>A	c.(484-486)Gcg>Acg	p.A162T		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A162T(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCTGACACTCGCGTGCTCTGC	0.448000														47			24		0	0	0.000375601	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	G	G	rs60608267	by1000genomes	TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr12:132547093A>G	uc001ujn.3	+	46	8333	c.8181A>G	c.(8179-8181)caA>caG	p.Q2727Q	EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2763	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.Q2726Q(18)		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)		agcagcaacaacagcagcagc	0.567000														62			4		0	0	0.00024832	0	0
MOXD1	26002	broad.mit.edu	37	6	132649712	132649712	+	Missense_Mutation	SNP	C	G	G	rs146988576	byFrequency	TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr6:132649712C>G	uc003qdf.3	-	4	784	c.685G>C	c.(685-687)Ggc>Cgc	p.G229R	MOXD1_uc003qde.3_Missense_Mutation_p.G161R	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	229					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTCTCATGGCCTCTCTGTATC	0.488000														30			15		0	0	0.000422831	0	0
UBTD1	80019	broad.mit.edu	37	10	99327795	99327795	+	Silent	SNP	G	A	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr10:99327795G>A	uc001knv.1	+	1	388	c.195G>A	c.(193-195)aaG>aaA	p.K65K		NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	Homo sapiens ubiquitin domain containing 1 (UBTD1), mRNA.	65										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		AGGGCCGCAAGGAGATCTGGG	0.632000														107			19		0	0	0.000132079	0	0
KIAA0146	23514	broad.mit.edu	37	8	48508505	48508506	+	In_Frame_Ins	INS	-	AGC	AGC			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr8:48508505_48508506insAGC	uc003xqd.3	+	8	1292_1293	c.1230_1231insAGC	c.(1228-1233)insAGC	p.411_412insS	KIAA0146_uc011lcz.2_Non-coding_Transcript|KIAA0146_uc011lda.2_In_Frame_Ins_p.100_101insS|KIAA0146_uc011ldb.2_In_Frame_Ins_p.411_412insS|KIAA0146_uc010lxs.3_Intron|KIAA0146_uc011ldc.2_In_Frame_Ins_p.341_342insS|KIAA0146_uc011ldd.2_In_Frame_Ins_p.351_352insS|KIAA0146_uc003xqe.3_5'UTR|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_In_Frame_Ins_p.100_101insS|KIAA0146_uc010lxt.3_In_Frame_Ins_p.100_101insS	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	411										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TTCCAAGAAGAAGCATCTCTTT	0.371													---	52	---	---	7	---					
ATE1	11101	broad.mit.edu	37	10	123658376	123658376	+	Frame_Shift_Del	DEL	C	-	-	rs150970157		TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr10:123658376delC	uc001lfp.3	-	6	1004	c.922delG	c.(922-924)gatfs	p.D308fs	ATE1_uc001lfq.3_Intron|ATE1_uc010qtr.2_Intron|ATE1_uc010qts.2_Frame_Shift_Del_p.D212fs|ATE1_uc010qtt.2_Frame_Shift_Del_p.D301fs|ATE1_uc001lfr.3_Intron|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	308					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CCACATTCATCGGGTGGATCC	0.423													---	63	---	---	11	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	-	-	rs5811180		TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr14:105996050_105996052delGCC	uc001yrp.1	+	1	1030_1032	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	abParts_uc021ser.1_Intron|TMEM121_uc021ses.1_In_Frame_Del_p.P299del|BC033241_uc001yrr.3_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	Homo sapiens transmembrane protein 121 (TMEM121), mRNA.	299	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													---	2	---	---	4	---					
FRG1B	284802	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	A	A			TCGA-G7-6793-01A-11D-1961-08	TCGA-G7-6793-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ab802f1-4c29-4c65-9073-b2b17d3a7bba	33f384e6-bc1d-4ef9-8886-7319f51cd68b	g.chr20:29628229_29628230insA	uc010ztl.1	+	2	173_174	c.141_142insA	c.(139-144)gggaaafs	p.G47fs	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_5'UTR					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351													---	96	---	---	11	---					
