Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													9	181					0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20824565	20824565	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr14:20824565G>C	ENST00000527915.1	+	12	1245	c.1240G>C	c.(1240-1242)Gaa>Caa	p.E414Q	PARP2_ENST00000429687.3_Missense_Mutation_p.E401Q|PARP2_ENST00000250416.5_Missense_Mutation_p.E414Q			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	414	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGGTGAGAAAGAAGCCTTCAG	0.468000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					4	88					0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156263853	156263853	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:156263853C>G	ENST00000362007.1	-	4	780	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	C1orf85_ENST00000368264.1_Missense_Mutation_p.E166Q|C1orf85_ENST00000472870.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	252					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GAGTGCTGCTCCTGCATTGAG	0.607000													6	192					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61869830	61869830	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr17:61869830G>C	ENST00000578681.1	+	4	881	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	DDX42_ENST00000359353.5_5'UTR|DDX42_ENST00000457800.2_Missense_Mutation_p.E94Q|DDX42_ENST00000389924.2_Missense_Mutation_p.E94Q|DDX42_ENST00000583590.1_Missense_Mutation_p.E94Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	94					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CATTCCTGCTGAAAACTCACC	0.418000													5	100					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71567625	71567625	+	Splice_Site	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr6:71567625G>T	ENST00000370455.3	+	10	1210	c.961_splice	c.e10-1	p.G321_splice	SMAP1_ENST00000316999.5_Splice_Site_p.G294_splice|B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_Splice_Site_p.G294_splice	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	321					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TGTGGTGCAGGTGTATTTATG	0.458000													3	39					0.150653	0.159854	1	1	0
EIF4G1	1981	broad.mit.edu	37	3	184046426	184046426	+	Missense_Mutation	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr3:184046426G>A	ENST00000342981.4	+	26	4378	c.3964G>A	c.(3964-3966)Gaa>Aaa	p.E1322K	EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1328K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1321K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E1157K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1328K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E1281K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E1126K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E1282K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E1234K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1321K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E1125K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1328K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E1235K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E1158K	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1321	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGTTGTATGAAATCTTGGA	0.527000													10	174					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73813472	73813472	+	Silent	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr17:73813472C>T	ENST00000293218.3	+	10	1398	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	UNK_ENST00000589666.1_Silent_p.I390I			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	390							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGCTCCATCAGGAAGCCCC	0.657000													4	64					0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34192362	34192362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr17:34192362C>T	ENST00000311880.2	-	3	325	c.177G>A	c.(175-177)tgG>tgA	p.W59*	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Nonsense_Mutation_p.W59*	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	59							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GATGCTGCCTCCAGCACTCTG	0.542000													4	45					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68514699	68514699	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr11:68514699G>C	ENST00000443940.2	-	3	693	c.607C>G	c.(607-609)Ctt>Gtt	p.L203V	MTL5_ENST00000255087.5_Missense_Mutation_p.L203V|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.L203V			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	203					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TCTTTCTTAAGAGAACAGCAG	0.418000													4	59					0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11728364	11728364	+	Missense_Mutation	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:11728364C>T	ENST00000361113.5	+	4	1254	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTCCCCAGTTCATTTCGAATC	0.418000													3	27					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138188931	138188931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr3:138188931G>A	ENST00000389567.4	+	16	1719	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	511	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACCCTGTGTGGAGCCAGGTGT	0.522000													3	38					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74752246	74752246	+	Silent	SNP	T	T	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:74752246T>C	ENST00000404568.3	-	3	540	c.321A>G	c.(319-321)gcA>gcG	p.A107A	DQX1_ENST00000393951.2_Silent_p.A107A	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	107	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGCTCCGGGCTGCAAGAGGGT	0.592000													4	28					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23899833	23899833	+	Missense_Mutation	SNP	A	A	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr14:23899833A>T	ENST00000355349.3	-	11	1097	c.935T>A	c.(934-936)tTc>tAc	p.F312Y		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	312	Myosin head-like.		F -> C (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGGGAGATGAATGCATAATC	0.572000													4	23					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63946372	63946372	+	Missense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr15:63946372C>A	ENST00000443617.2	-	51	10323	c.10236G>T	c.(10234-10236)atG>atT	p.M3412I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3412					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GATCTCCTCCCATATCAGCAA	0.458000													9	77					2.27111e-07	3.0649e-07	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55450792	55450792	+	Silent	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:55450792G>A	ENST00000446217.1	-	6	1881	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S	NLRP7_ENST00000592784.1_Silent_p.S465S|NLRP7_ENST00000328092.5_Silent_p.S465S|NLRP7_ENST00000448121.2_Silent_p.S465S|NLRP7_ENST00000588756.1_Silent_p.S465S|NLRP7_ENST00000590030.1_Silent_p.S465S|NLRP7_ENST00000340844.2_Silent_p.S465S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	465							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGTGGATGAAGGAGTAGCAGC	0.627000													3	17					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464097	247464097	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:247464097C>G	ENST00000294753.4	-	9	1952	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.K532N	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	496					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CCTGCTCTCTCTTCTCCACCG	0.637000													4	117					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205429	236205429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:236205429C>A	ENST00000264187.6	-	4	998	c.916G>T	c.(916-918)Gag>Tag	p.E306*	NID1_ENST00000366595.3_Nonsense_Mutation_p.E306*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	306					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCCACATCCTCCAGGCCCAGA	0.602000													8	121					0.000673444	0.000828396	1	1	0
GP5	2814	broad.mit.edu	37	3	194117510	194117510	+	Nonsense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr3:194117510G>C	ENST00000401815.1	-	1	1573	c.1502C>G	c.(1501-1503)tCa>tGa	p.S501*	GP5_ENST00000323007.3_Nonsense_Mutation_p.S501*			P40197	GPV_HUMAN	glycoprotein V (platelet)	501					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCAGGGTTCTGAGCTGTTGGG	0.657000													4	117					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30772567	30772567	+	Missense_Mutation	SNP	T	T	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr22:30772567T>C	ENST00000405659.1	+	12	2801	c.2092T>C	c.(2092-2094)Tct>Cct	p.S698P	CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	698										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CACATCCCCATCTCGGCAGCC	0.667000													7	262					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160231870	160231870	+	Missense_Mutation	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr3:160231870C>T	ENST00000334256.4	-	13	1437	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	378	NLS binding site (minor) (By similarity).				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)			CTTACCTTATCCAAAAGGTGT	0.368000													5	28					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558473	56558473	+	Missense_Mutation	SNP	A	A	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr12:56558473A>G	ENST00000394023.3	-	28	3380	c.3275T>C	c.(3274-3276)aTg>aCg	p.M1092T	SMARCC2_ENST00000347471.4_Missense_Mutation_p.M1092T|SMARCC2_ENST00000267064.4_Missense_Mutation_p.M1061T|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.M1092T	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1061	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGCCCCTGGCATCATTGAGGG	0.537000													3	13					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875507	247875507	+	Missense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:247875507C>A	ENST00000302084.2	-	1	598	c.551G>T	c.(550-552)tGg>tTg	p.W184L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGGGCAATCCAGGGTGCAAT	0.552000													6	122					0.27861	0.284756	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32836581	32836581	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:32836581G>T	ENST00000421745.2	+	73	14460	c.14326G>T	c.(14326-14328)Gat>Tat	p.D4776Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4776					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGATTGCGGATATCCAGCA	0.448000													7	55					0.0293803	0.0319052	1	1	0
ADCY1	107	broad.mit.edu	37	7	45719306	45719306	+	Splice_Site	SNP	A	A	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr7:45719306A>C	ENST00000297323.7	+	11	1920		c.e11-1			NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCTGTCCCCCAGGAGTGTGGT	0.582000													5	64					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61815535	61815535	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr10:61815535C>G	ENST00000280772.1	-	42	13137	c.12946G>C	c.(12946-12948)Gaa>Caa	p.E4316Q	ANK3_ENST00000503366.1_Missense_Mutation_p.E1807Q|ANK3_ENST00000355288.2_Missense_Mutation_p.E940Q|ANK3_ENST00000373827.2_Missense_Mutation_p.E1800Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4316					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAGTCTCTTCTATTATAAGC	0.438000													6	122					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45801474	45801474	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr20:45801474G>T	ENST00000327619.5	+	12	1531	c.1157G>T	c.(1156-1158)cGg>cTg	p.R386L	EYA2_ENST00000317304.6_Missense_Mutation_p.R356L|EYA2_ENST00000357410.3_Missense_Mutation_p.R386L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	386					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CGCTACCGGCGGGTGAAGGAG	0.602000													10	66					7.03913e-09	9.98407e-09	1	1	0
SNTN	132203	broad.mit.edu	37	3	63645444	63645444	+	Silent	SNP	T	T	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr3:63645444T>A	ENST00000496807.1	+	3	179	c.177T>A	c.(175-177)acT>acA	p.T59T	SNTN_ENST00000343837.3_Silent_p.T63T			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	63						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						TTGCCACCACTGCTCTGATTT	0.413000													10	81					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979670	240979670	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:240979670G>T	ENST00000366565.1	-	11	1111	c.730C>A	c.(730-732)Cac>Aac	p.H244N	RGS7_ENST00000407727.1_Missense_Mutation_p.H244N|RGS7_ENST00000366564.1_Missense_Mutation_p.H244N|RGS7_ENST00000366562.4_Missense_Mutation_p.H244N|RGS7_ENST00000366563.1_Missense_Mutation_p.H244N|RGS7_ENST00000446183.2_Missense_Mutation_p.H160N|RGS7_ENST00000348120.2_Missense_Mutation_p.H191N|RGS7_ENST00000331110.7_Missense_Mutation_p.H218N|RGS7_ENST00000401882.1_Missense_Mutation_p.H191N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	244					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.H244N(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTGGGTGTGTGGGTAGGACTG	0.358000													5	171					6.5536e-12	9.48907e-12	1	1	0
ZNF836	162962	broad.mit.edu	37	19	52659075	52659075	+	Missense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:52659075C>A	ENST00000322146.8	-	5	2382	c.1861G>T	c.(1861-1863)Gac>Tac	p.D621Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.D621Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTCCACTGTCATTGAAGACC	0.423000													5	91					0.217242	0.223679	1	1	0
NPTN	27020	broad.mit.edu	37	15	73879894	73879894	+	Missense_Mutation	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr15:73879894G>A	ENST00000351217.6	-	3	1247	c.329C>T	c.(328-330)cCt>cTt	p.P110L	NPTN_ENST00000563691.1_Missense_Mutation_p.P226L|NPTN_ENST00000345330.4_Missense_Mutation_p.P226L|NPTN_ENST00000545878.1_Missense_Mutation_p.P226L|NPTN_ENST00000287226.8_Missense_Mutation_p.P226L|NPTN_ENST00000562924.1_Missense_Mutation_p.P110L|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000542234.1_Intron	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN	neuroplastin	226	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						GTTTGCTTTAGGAGCGCTGAC	0.498000													3	40					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95357836	95357836	+	Splice_Site	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:95357836G>T	ENST00000271227.6	+	14	1722		c.e14-1		SLC44A3_ENST00000467909.1_Splice_Site|SLC44A3_ENST00000529450.1_Splice_Site|SLC44A3_ENST00000532427.1_Splice_Site|SLC44A3_ENST00000446120.2_Splice_Site|SLC44A3_ENST00000527077.1_Splice_Site	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3							integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CTTTTGCACAGGTGTTAGTGG	0.393000													4	74					0.000602214	0.000747391	1	1	0
GALR1	2587	broad.mit.edu	37	18	74980670	74980670	+	Missense_Mutation	SNP	G	G	T	rs149816752		TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr18:74980670G>T	ENST00000299727.3	+	3	862	c.862G>T	c.(862-864)Gcc>Tcc	p.A288S		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	288					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.A288T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CAGAATCACCGCCCACTGCCT	0.498000													4	56					0.150653	0.159854	1	1	0
FAM135A	57579	broad.mit.edu	37	6	71190694	71190694	+	Silent	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr6:71190694C>A	ENST00000418814.2	+	9	1247	c.633C>A	c.(631-633)gtC>gtA	p.V211V	FAM135A_ENST00000505868.1_Silent_p.V211V|FAM135A_ENST00000505769.1_Silent_p.V211V|FAM135A_ENST00000457062.2_Silent_p.V168V|FAM135A_ENST00000370479.3_Silent_p.V168V|FAM135A_ENST00000361499.3_Silent_p.V211V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	211										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAAGTGTGGTCTTTGGTATTA	0.343000													3	31					1	1	1	1	0
TMEM82	388595	broad.mit.edu	37	1	16073511	16073511	+	Missense_Mutation	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:16073511G>A	ENST00000375782.1	+	5	1045	c.907G>A	c.(907-909)Gtg>Atg	p.V303M	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	303						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGTGTCTCGTGGGCGTCCG	0.642000													5	65					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641214	179641214	+	Missense_Mutation	SNP	T	T	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:179641214T>C	ENST00000589042.1	-	28	5601	c.5377A>G	c.(5377-5379)Att>Gtt	p.I1793V	TTN_ENST00000591111.1_Missense_Mutation_p.I1793V|TTN_ENST00000460472.2_Missense_Mutation_p.I1747V|TTN_ENST00000359218.5_Missense_Mutation_p.I1747V|TTN_ENST00000342992.6_Missense_Mutation_p.I1793V|TTN_ENST00000342175.6_Missense_Mutation_p.I1747V|TTN_ENST00000360870.5_Missense_Mutation_p.I1793V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1546	Ig-like 8.						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)			TCTTTAACAATAAGGGTAGCA	0.418000													6	52					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152669	117152669	+	Silent	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr11:117152669C>T	ENST00000530849.1	+	10	940	c.930C>T	c.(928-930)ttC>ttT	p.F310F	RNF214_ENST00000531452.1_Silent_p.F465F|RNF214_ENST00000300650.4_Silent_p.F465F|RNF214_ENST00000531287.1_Silent_p.F310F|RNF214_ENST00000524917.1_Intron			Q8ND24	RN214_HUMAN	ring finger protein 214	465							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GGATGCCCTTCTCCATTGGGC	0.562000													7	193					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179087812	179087812	+	Missense_Mutation	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:179087812C>T	ENST00000502732.1	-	7	1336	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	ABL2_ENST00000367623.4_Missense_Mutation_p.R357Q|ABL2_ENST00000512653.1_Missense_Mutation_p.R363Q|ABL2_ENST00000344730.3_Missense_Mutation_p.R363Q|ABL2_ENST00000392043.3_Missense_Mutation_p.R357Q|ABL2_ENST00000408940.3_Missense_Mutation_p.R342Q|ABL2_ENST00000504405.1_Missense_Mutation_p.R342Q|ABL2_ENST00000507173.1_Missense_Mutation_p.R357Q|ABL2_ENST00000511413.1_Missense_Mutation_p.R378Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	378	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R342Q(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CACCTCTTCTCGGTTGCATTC	0.428000			T	ETV6	AML								4	112					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144923778	144923778	+	Missense_Mutation	SNP	T	T	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:144923778T>C	ENST00000529945.1	-	2	1608	c.1169A>G	c.(1168-1170)cAt>cGt	p.H390R	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H227R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H227R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H227R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H364R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H227R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H390R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H293R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H364R|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H14R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	227					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTGGTCTCATGTGAATTCAG	0.438000			T	PDGFRB	MPD								5	118					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131028097	131028097	+	Missense_Mutation	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr9:131028097G>A	ENST00000421699.2	-	10	727	c.715C>T	c.(715-717)Cac>Tac	p.H239Y		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	239						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TGCTGAGTGTGAGCCAGGGCT	0.522000													5	51					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59186750	59186750	+	Missense_Mutation	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr15:59186750C>T	ENST00000380516.2	-	10	1346	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	SLTM_ENST00000536328.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	420	RRM.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAGGACTTCGAGCATTTGT	0.413000													4	109					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90074814	90074814	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr5:90074814G>C	ENST00000405460.2	+	64	13078	c.12982G>C	c.(12982-12984)Gag>Cag	p.E4328Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4328	Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAGCAGGGGAGATGAGGAA	0.493000													5	70					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55996638	55996638	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr10:55996638G>T	ENST00000373965.2	-	9	1324	c.930C>A	c.(928-930)gaC>gaA	p.D310E	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.D310E|PCDH15_ENST00000395433.1_Missense_Mutation_p.D288E|PCDH15_ENST00000414778.1_Missense_Mutation_p.D315E|PCDH15_ENST00000373957.3_Missense_Mutation_p.D288E|PCDH15_ENST00000361849.3_Missense_Mutation_p.D310E|PCDH15_ENST00000395438.1_Missense_Mutation_p.D310E|PCDH15_ENST00000395440.1_Missense_Mutation_p.D310E|PCDH15_ENST00000395446.1_Missense_Mutation_p.D310E|PCDH15_ENST00000395442.1_Missense_Mutation_p.D310E|PCDH15_ENST00000395430.1_Missense_Mutation_p.D310E|PCDH15_ENST00000437009.1_Missense_Mutation_p.D310E|PCDH15_ENST00000320301.6_Missense_Mutation_p.D310E|PCDH15_ENST00000395432.2_Missense_Mutation_p.D273E|PCDH15_ENST00000373955.1_Missense_Mutation_p.D310E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	310	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAATATTCCGGTCCTGATCAA	0.383000										HNSCC(58;0.16)			8	113					5.50884e-06	7.36277e-06	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107924145	107924145	+	Missense_Mutation	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:107924145C>T	ENST00000328300.6	+	46	4290	c.4046C>T	c.(4045-4047)tCa>tTa	p.S1349L	COL4A5_ENST00000361603.2_Missense_Mutation_p.S1343L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1343	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTACCTGGATCAGCTGGCCCT	0.448000									Alport syndrome with Diffuse Leiomyomatosis				5	127					0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97157676	97157676	+	Silent	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr8:97157676C>A	ENST00000287020.5	-	2	582	c.483G>T	c.(481-483)ctG>ctT	p.L161L		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	161					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCGCGCCCACCAGCTCTTCTT	0.592000													3	15					0.115264	0.124199	1	1	0
ERAS	3266	broad.mit.edu	37	X	48687656	48687656	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:48687656G>T	ENST00000338270.1	+	1	374	c.123G>T	c.(121-123)gaG>gaT	p.E41D		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	41					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						AGCTGCCTGAGTACAAGGCTG	0.662000													4	20					0.00116845	0.00141229	1	1	0
FDPS	2224	broad.mit.edu	37	1	155289624	155289624	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:155289624G>C	ENST00000356657.6	+	10	1126	c.964G>C	c.(964-966)Ggc>Cgc	p.G322R	FDPS_ENST00000368356.4_Missense_Mutation_p.G322R|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.G256R	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	322					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CAGTGTGACCGGCAAAATTGG	0.572000													10	199					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9307143	9307143	+	Splice_Site	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:9307143G>T	ENST00000377403.2	+	3	1047		c.e3+1		H6PD_ENST00000602477.1_Splice_Site	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)							endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GATGCTGAAGGTGTGTGAGTG	0.622000													3	51					0.004672	0.00541173	1	1	0
MURC	347273	broad.mit.edu	37	9	103340492	103340492	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr9:103340492G>C	ENST00000307584.5	+	1	132	c.67G>C	c.(67-69)Gaa>Caa	p.E23Q		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	23					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GAGTGTTACAGAAGATGAAGA	0.443000													4	48					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21833093	21833093	+	Missense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr14:21833093C>A	ENST00000216297.2	-	10	1464	c.1126G>T	c.(1126-1128)Gtt>Ttt	p.V376F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	376					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATGCTGAAAACCATTCCTAAA	0.413000													3	26					0.000602214	0.000747391	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37020711	37020711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr5:37020711G>T	ENST00000282516.8	+	26	5660	c.5161G>T	c.(5161-5163)Gaa>Taa	p.E1721*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E1721*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1721					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCATCGAGCTGAAAACCGAAA	0.343000													3	51					0.184627	0.192956	1	1	0
WDR70	55100	broad.mit.edu	37	5	37479982	37479982	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr5:37479982C>G	ENST00000265107.4	+	8	889	c.733C>G	c.(733-735)Ctt>Gtt	p.L245V	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Missense_Mutation_p.L245V	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	245										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGACATGATTCTTGTTGTATC	0.373000													4	86					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28610044	28610044	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr7:28610044G>T	ENST00000357727.2	+	5	743	c.353G>T	c.(352-354)aGc>aTc	p.S118I	CREB5_ENST00000409603.1_Missense_Mutation_p.S85I|CREB5_ENST00000396299.2_Missense_Mutation_p.S85I|CREB5_ENST00000396300.2_Missense_Mutation_p.S111I	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	118					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CACCAGCTTAGCAGCGCTCGG	0.577000													13	115					9.31168e-06	1.23269e-05	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44575483	44575483	+	Missense_Mutation	SNP	T	T	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr7:44575483T>A	ENST00000289547.4	-	5	1994	c.1939A>T	c.(1939-1941)Atc>Ttc	p.I647F	NPC1L1_ENST00000423141.1_Missense_Mutation_p.I647F|NPC1L1_ENST00000381160.3_Missense_Mutation_p.I647F|NPC1L1_ENST00000546276.1_Missense_Mutation_p.I647F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	647	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCCAGAGAGATGTACAGGAAT	0.572000													8	86					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206667324	206667324	+	Splice_Site	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:206667324G>A	ENST00000367120.3	+	21	2490	c.2117_splice	c.e21+1	p.R706_splice	IKBKE_ENST00000537984.1_Splice_Site_p.R621_splice|IKBKE_ENST00000462698.1_3'UTR|C1orf147_ENST00000367119.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	706					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATCATCGAACGGTAAGGAGCT	0.597000													3	59					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21833094	21833094	+	Missense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr14:21833094C>A	ENST00000216297.2	-	10	1463	c.1125G>T	c.(1123-1125)atG>atT	p.M375I		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	375					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGCTGAAAACCATTCCTAAAA	0.418000													3	26					0.000602214	0.000747391	1	1	0
CELF1	10658	broad.mit.edu	37	11	47496933	47496933	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr11:47496933G>C	ENST00000395290.2	-	10	1150	c.1141C>G	c.(1141-1143)Ctt>Gtt	p.L381V	CELF1_ENST00000361904.3_Missense_Mutation_p.L379V|CELF1_ENST00000532048.1_Missense_Mutation_p.L408V|CELF1_ENST00000531165.1_Missense_Mutation_p.L410V|CELF1_ENST00000310513.5_Missense_Mutation_p.L378V|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000358597.3_Missense_Mutation_p.L382V|CELF1_ENST00000395292.2_Missense_Mutation_p.L379V	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	382					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TGTGTCAGAAGATTCTGGTTG	0.567000													3	57					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169145522	169145522	+	Missense_Mutation	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr4:169145522C>T	ENST00000393743.3	-	35	4987	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1566							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCTTCACATTCTTTACCTGTG	0.368000													5	29					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114505025	114505025	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:114505025C>G	ENST00000369558.1	+	9	2300	c.2068C>G	c.(2068-2070)Cag>Gag	p.Q690E	HIPK1_ENST00000369553.1_Missense_Mutation_p.Q296E|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q690E|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q690E|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q656E|HIPK1_ENST00000406344.1_Missense_Mutation_p.Q296E|HIPK1_ENST00000340480.4_Missense_Mutation_p.Q316E|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q690E|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q690E			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCAGCTGCTCAGCCACTACA	0.443000													4	64					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245569	202245569	+	Missense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:202245569C>A	ENST00000332624.3	-	16	2870	c.2442G>T	c.(2440-2442)gaG>gaT	p.E814D		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	814				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGCCATACATCTCCTGGAGGA	0.517000													4	85					0.00024832	0.000319597	1	1	0
SPANXN3	139067	broad.mit.edu	37	X	142596947	142596947	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:142596947C>G	ENST00000370503.2	-	2	206	c.123G>C	c.(121-123)ttG>ttC	p.L41F	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	41										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTCTTCTTCAAACTCTGTT	0.378000													7	48					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37670072	37670072	+	Missense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:37670072C>A	ENST00000378588.4	+	13	1682	c.1615C>A	c.(1615-1617)Cct>Act	p.P539T	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.P507T|CYBB_ENST00000536160.1_Missense_Mutation_p.P272T	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	539					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CCTCTGTGGACCTGAAGCCTT	0.418000													4	41					0.0215528	0.0237765	1	1	0
GABRQ	55879	broad.mit.edu	37	X	151815583	151815583	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:151815583C>G	ENST00000370306.2	+	4	501	c.481C>G	c.(481-483)Cgc>Ggc	p.R161G		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	161						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGAGAATCGCGTGTTTCA	0.542000													8	76					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256498	69256498	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr14:69256498C>A	ENST00000439696.2	-	2	1070	c.769G>T	c.(769-771)Gag>Tag	p.E257*	ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.E257*|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	257					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E257*(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTGCCAGCTCCTGGCTGGAG	0.632000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	100					1.12685e-05	1.47766e-05	1	1	0
PFKFB1	5207	broad.mit.edu	37	X	54987318	54987318	+	Missense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:54987318C>A	ENST00000375006.3	-	3	326	c.256G>T	c.(256-258)Gtg>Ttg	p.V86L	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.V21L	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	86	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTGTAGCTCACTGCCTCTCGT	0.458000													6	53					1.06961e-07	1.47204e-07	1	1	0
EPN2	22905	broad.mit.edu	37	17	19235181	19235181	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr17:19235181C>G	ENST00000314728.5	+	10	1911	c.1427C>G	c.(1426-1428)tCt>tGt	p.S476C	EPN2_ENST00000575595.1_Missense_Mutation_p.S184C|EPN2_ENST00000571254.1_Missense_Mutation_p.S412C|EPN2_ENST00000395618.3_Missense_Mutation_p.S191C|EPN2_ENST00000347697.2_Missense_Mutation_p.S419C|EPN2_ENST00000395620.2_Missense_Mutation_p.S419C|EPN2_ENST00000395626.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	476	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TCTGTGACCTCTCTGCCATCC	0.537000													6	120					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7423801	7423801	+	Missense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr10:7423801C>A	ENST00000361972.4	-	2	150	c.60G>T	c.(58-60)aaG>aaT	p.K20N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K20N|SFMBT2_ENST00000379711.2_Missense_Mutation_p.K20N|SFMBT2_ENST00000397160.3_Missense_Mutation_p.K20N|SFMBT2_ENST00000379713.3_Missense_Mutation_p.K20N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	20					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGCCGAGACACTTTTCCAAGG	0.418000													4	53					0.217242	0.223679	1	1	0
EDC4	23644	broad.mit.edu	37	16	67912493	67912493	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr16:67912493G>C	ENST00000358933.5	+	10	1382	c.1143G>C	c.(1141-1143)aaG>aaC	p.K381N	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	381					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GAGAGTTAAAGATGTGGTGTA	0.577000													4	89					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655842	12655842	+	Missense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr17:12655842C>A	ENST00000425538.1	+	10	1437	c.1237C>A	c.(1237-1239)Ccg>Acg	p.P413T	MYOCD_ENST00000343344.4_Missense_Mutation_p.P413T|MYOCD_ENST00000395988.1_Missense_Mutation_p.P317T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	413					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAACCCAGTGCCGAACTTTGG	0.547000													7	71					0.000442599	0.000564416	1	1	0
A2ML1	144568	broad.mit.edu	37	12	9000230	9000230	+	Missense_Mutation	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr12:9000230C>T	ENST00000299698.7	+	15	1949	c.1769C>T	c.(1768-1770)gCg>gTg	p.A590V	A2ML1_ENST00000539547.1_Missense_Mutation_p.A99V|A2ML1_ENST00000540049.1_3'UTR	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	434						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCCCTGTGTGCGCTCCGGGCG	0.607000													6	140					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145638202	145638202	+	Missense_Mutation	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr8:145638202C>T	ENST00000276833.5	-	10	1984	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	SLC39A4_ENST00000301305.3_Missense_Mutation_p.E586K|SLC39A4_ENST00000531013.1_5'UTR	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	586						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			ATCCAGGCCTCGCTCTCCTCG	0.672000													4	38					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49094711	49094711	+	Missense_Mutation	SNP	T	T	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr3:49094711T>A	ENST00000395443.2	-	3	1394	c.922A>T	c.(922-924)Acc>Tcc	p.T308S	QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.T308S|QRICH1_ENST00000424300.1_Missense_Mutation_p.T308S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	308	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ATGGTCCAGGTTTCTCCTGTA	0.552000													5	42					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45719307	45719307	+	Splice_Site	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr7:45719307G>A	ENST00000297323.7	+	11	1920		c.e11-1			NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTGTCCCCCAGGAGTGTGGTC	0.582000													5	65					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249469	153249469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr4:153249469C>A	ENST00000281708.4	-	9	2538	c.1309G>T	c.(1309-1311)Gga>Tga	p.G437*	FBXW7_ENST00000603841.1_Nonsense_Mutation_p.G437*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.G261*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.G357*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.G319*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.G437*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	437					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G437R(2)|p.G357R(1)|p.?(1)|p.G198R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTGTAGATCCACTAATGATG	0.408000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								13	126					6.72482e-11	9.6366e-11	1	1	0
ZNF527	84503	broad.mit.edu	37	19	37880228	37880228	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:37880228G>C	ENST00000436120.2	+	5	1384	c.1277G>C	c.(1276-1278)cGc>cCc	p.R426P	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCAGCAGACGCATAGCCCTT	0.438000													6	31					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240036977	240036977	+	Silent	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:240036977C>T	ENST00000345617.3	-	13	2339	c.1548G>A	c.(1546-1548)cgG>cgA	p.R516R	HDAC4_ENST00000541256.1_Silent_p.R490R|HDAC4_ENST00000543185.1_Silent_p.R100R	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	516					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCTCCGGCTGCCGGGCTGGCT	0.647000													9	85					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	32					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19704408	19704408	+	Silent	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr21:19704408C>A	ENST00000284885.3	-	14	1680	c.1647G>T	c.(1645-1647)ctG>ctT	p.L549L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	549	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACAGAAAGCCAGATTAGGGT	0.413000													4	41					0.00116845	0.00141229	1	1	0
KRT31	3881	broad.mit.edu	37	17	39551619	39551619	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr17:39551619C>G	ENST00000251645.2	-	5	806	c.754G>C	c.(754-756)Gag>Cag	p.E252Q		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	252	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TTCAGCTCCTCGGTCTGAAAC	0.622000													4	100					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625405	43625405	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr9:43625405C>G	ENST00000332857.6	-	4	3310	c.3282G>C	c.(3280-3282)aaG>aaC	p.K1094N		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GCCTTTGGCTCTTGCATGAGC	0.502000													9	58					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671711	45671711	+	Silent	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr11:45671711G>T	ENST00000308064.2	-	4	1433	c.763C>A	c.(763-765)Cgg>Agg	p.R255R		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	255					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TACCAGAGCCGCCAGAGCCGG	0.637000													7	74					0.0293803	0.0319052	1	1	0
LCLAT1	253558	broad.mit.edu	37	2	30863132	30863132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:30863132G>T	ENST00000309052.4	+	7	1101	c.892G>T	c.(892-894)Gag>Tag	p.E298*	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Nonsense_Mutation_p.E260*|LCLAT1_ENST00000379509.3_Nonsense_Mutation_p.E260*	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	298					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CACATCCAAGGAGGACCTTCA	0.498000													4	40					0.00909568	0.0103631	1	1	0
SV2C	22987	broad.mit.edu	37	5	75427582	75427582	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr5:75427582G>T	ENST00000502798.2	+	2	449	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	SV2C_ENST00000322285.7_Missense_Mutation_p.D3Y	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	3	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TAAGATGGAAGACTCTTACAA	0.453000													3	34					1	1	1	1	0
HSD17B10	3028	broad.mit.edu	37	X	53459279	53459279	+	Missense_Mutation	SNP	A	A	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:53459279A>C	ENST00000168216.6	-	3	300	c.273T>G	c.(271-273)tgT>tgG	p.C91W	HSD17B10_ENST00000375298.4_Missense_Mutation_p.C91W|HSD17B10_ENST00000375304.5_Missense_Mutation_p.C91W|HSD17B10_ENST00000495986.1_5'UTR	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	91					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	CGATGCCTGCACAGTTGACAG	0.502000													4	36					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109740164	109740164	+	Silent	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:109740164C>T	ENST00000369939.3	+	16	2373	c.2190C>T	c.(2188-2190)ttC>ttT	p.F730F	KIAA1324_ENST00000529753.1_Silent_p.F643F|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	730					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGTCAGGGTTCTCCAAATCTA	0.562000													4	58					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118968899	118968899	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:118968899G>T	ENST00000276201.2	-	11	1463	c.1394C>A	c.(1393-1395)gCa>gAa	p.A465E	UPF3B_ENST00000345865.2_Missense_Mutation_p.A452E	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	465	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CCTTTCTGCTGCTGAATCTCC	0.517000													13	195					6.31663e-08	8.78011e-08	1	1	0
PRR19	284338	broad.mit.edu	37	19	42814725	42814725	+	Missense_Mutation	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:42814725G>A	ENST00000499536.2	+	2	1715	c.904G>A	c.(904-906)Ggg>Agg	p.G302R	PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Missense_Mutation_p.G302R			A6NJB7	PRR19_HUMAN	proline rich 19	302	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TCGGCCCTGGGGGGTTGGCCT	0.647000													7	166					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201052309	201052309	+	Silent	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:201052309G>A	ENST00000362061.3	-	10	1600	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L	CACNA1S_ENST00000367338.3_Silent_p.L458L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	458			L -> H (in dbSNP:rs12742169).		axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGTCAGCCAGAGAGGCTGGT	0.562000													4	50					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69645308	69645308	+	Splice_Site	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:69645308G>T	ENST00000453994.2	+	3	570		c.e3+1		GDPD2_ENST00000374382.3_Splice_Site|GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000536730.1_Splice_Site	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2						glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ACTTCAATGAGTGTGTCATGG	0.592000													10	128					4.68919e-08	6.58381e-08	1	1	0
MAMLD1	10046	broad.mit.edu	37	X	149639245	149639245	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:149639245G>T	ENST00000370401.2	+	4	1710	c.1400G>T	c.(1399-1401)gGc>gTc	p.G467V	MAMLD1_ENST00000426613.2_Missense_Mutation_p.G442V|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G467V|MAMLD1_ENST00000432680.2_Missense_Mutation_p.G442V			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	467					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TCTAGCCCAGGCTTGCCACAG	0.587000													11	109					2.27111e-07	3.0649e-07	1	1	0
WAC	51322	broad.mit.edu	37	10	28905206	28905206	+	Nonsense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr10:28905206C>G	ENST00000375664.3	+	12	2135	c.1526C>G	c.(1525-1527)tCa>tGa	p.S509*	WAC_ENST00000354911.4_Nonsense_Mutation_p.S554*|WAC_ENST00000375646.1_Nonsense_Mutation_p.S402*|WAC_ENST00000347934.4_Nonsense_Mutation_p.S451*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	554					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	p.S554*(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCCACGTGTTCATTAACGCCT	0.438000													3	60					0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	7992608	7992608	+	Silent	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:7992608G>A	ENST00000270538.3	-	12	1441	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	391					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CCTGGAAGGTGATGATCAGCA	0.652000													7	120					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511400	169511400	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:169511400C>G	ENST00000367796.3	-	13	3144	c.2943G>C	c.(2941-2943)caG>caC	p.Q981H	F5_ENST00000367797.3_Missense_Mutation_p.Q976H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	976	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTGAGGCATTCTGGGGGCTGA	0.473000													4	96					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6620296	6620296	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr9:6620296G>C	ENST00000321612.6	-	3	508	c.358C>G	c.(358-360)Ctg>Gtg	p.L120V		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	120					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATGGCATGCAGAGTTGCAAGG	0.393000													3	42					0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33451072	33451072	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr8:33451072G>C	ENST00000256261.4	-	3	932	c.415C>G	c.(415-417)Cgg>Ggg	p.R139G	DUSP26_ENST00000523956.1_Missense_Mutation_p.R139G	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	139	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CTCAGCGCCCGGTGGATGAAG	0.607000													7	55					0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75457451	75457451	+	Silent	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr10:75457451C>T	ENST00000443782.2	-	1	188	c.63G>A	c.(61-63)caG>caA	p.Q21Q	AGAP5_ENST00000374094.4_Silent_p.Q21Q|RP11-464F9.1_ENST00000399449.3_RNA			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	21					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						ACACCGACCCCTGTTGCTGGT	0.607000													5	78					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs143925165	by1000genomes	TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403000													4	93					0	0	1	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869328	31869328	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr21:31869328C>G	ENST00000334058.2	-	1	123	c.101G>C	c.(100-102)aGa>aCa	p.R34T		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	34						intermediate filament		p.R34K(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATAACCCAGTCTGCGGAAGCT	0.527000													9	163					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42974779	42974779	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr6:42974779G>C	ENST00000485511.1	+	4	632	c.453G>C	c.(451-453)gaG>gaC	p.E151D	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E45D|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E119D|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E143D	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	151					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GACTCAACGAGATGGTGGAGT	0.542000													6	77					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155638451	155638451	+	Silent	SNP	G	G	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:155638451G>A	ENST00000368340.5	-	8	1308	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	YY1AP1_ENST00000535662.1_Silent_p.L128L|YY1AP1_ENST00000404643.1_Silent_p.L262L|YY1AP1_ENST00000355499.4_Silent_p.L282L|YY1AP1_ENST00000295566.4_Silent_p.L328L|YY1AP1_ENST00000407221.1_Silent_p.L251L|YY1AP1_ENST00000405763.3_Silent_p.L420L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368330.2_Silent_p.L282L|YY1AP1_ENST00000368339.5_Silent_p.L420L|YY1AP1_ENST00000359205.5_Silent_p.L271L|YY1AP1_ENST00000347088.5_Silent_p.L282L|YY1AP1_ENST00000361831.5_Silent_p.L271L|YY1AP1_ENST00000311573.5_Silent_p.L251L|MSTO1_ENST00000538143.1_Intron	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGTTCATGTTGAGGTTCTTGA	0.433000													6	103					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701970	181701970	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:181701970G>C	ENST00000526775.1	+	19	2856	c.2691G>C	c.(2689-2691)caG>caC	p.Q897H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q867H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q523H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q848H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q897H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q916H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q916H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	916					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCACAGGCAGAGCCAACGGC	0.662000													6	91					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12127013	12127013	+	Silent	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:12127013C>T	ENST00000419886.2	-	5	855	c.564G>A	c.(562-564)gaG>gaA	p.E188E	CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Silent_p.E223E|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GATATGGTTTCTCTCCAGTGT	0.388000													3	29					0	0	1	0	0
LCN2	3934	broad.mit.edu	37	9	130912526	130912526	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr9:130912526A>T	ENST00000540948.1	+	2	221	c.148A>T	c.(148-150)Aag>Tag	p.K50*	LCN2_ENST00000372998.1_Nonsense_Mutation_p.K50*|LCN2_ENST00000470902.1_Intron|LCN2_ENST00000277480.2_Nonsense_Mutation_p.K50*|LCN2_ENST00000373013.2_Nonsense_Mutation_p.K50*|LCN2_ENST00000373017.1_Nonsense_Mutation_p.K50*			P80188	NGAL_HUMAN	lipocalin 2	50					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						GTTCCAGGGGAAGTGGTATGT	0.557000													4	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048429	9048429	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:9048429C>G	ENST00000397910.4	-	5	33405	c.33202G>C	c.(33202-33204)Gaa>Caa	p.E11068Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11070	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGTGGTTTCTAGTTCACCA	0.502000													4	48					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													5	48					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35232973	35232973	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:35232973G>C	ENST00000392232.3	+	6	1987	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q	ZNF181_ENST00000459757.1_Missense_Mutation_p.E562Q|ZNF181_ENST00000492450.1_Missense_Mutation_p.E563Q			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTATACATGTGAGAAATCTTA	0.343000													4	78					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70467344	70467344	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:70467344G>T	ENST00000373998.1	-	13	2862	c.2165C>A	c.(2164-2166)gCg>gAg	p.A722E	ZMYM3_ENST00000314425.5_Missense_Mutation_p.A722E|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A724E|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A722E|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A724E	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	722					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCGCTTACACGCATGGCACCG	0.577000													3	26					0.004672	0.00541173	1	1	0
PLCD4	84812	broad.mit.edu	37	2	219499329	219499329	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:219499329C>G	ENST00000450993.2	+	13	2211	c.1872C>G	c.(1870-1872)ttC>ttG	p.F624L	PLCD4_ENST00000417849.1_Missense_Mutation_p.F624L|PLCD4_ENST00000432688.1_Missense_Mutation_p.F656L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	624	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGCCCTTTCAAAGCCCAGA	0.507000													9	137					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													8	85					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108641878	108641878	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr12:108641878G>T	ENST00000332082.4	+	10	2274	c.1456G>T	c.(1456-1458)Gac>Tac	p.D486Y	WSCD2_ENST00000549903.1_Missense_Mutation_p.D506Y|WSCD2_ENST00000261400.3_Missense_Mutation_p.D506Y|WSCD2_ENST00000547525.1_Missense_Mutation_p.D486Y			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	486						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCTGAAGCAGGACCTCTTTGT	0.597000													4	64					0.014758	0.0165432	1	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40843218	40843218	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr17:40843218C>G	ENST00000264638.4	+	14	2340	c.2123C>G	c.(2122-2124)tCc>tGc	p.S708C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	708	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGGGGAGGCTCCCAGCCTGGG	0.627000													5	106					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237758927	237758927	+	Silent	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:237758927C>A	ENST00000366574.2	+	34	4883	c.4566C>A	c.(4564-4566)gcC>gcA	p.A1522A	RYR2_ENST00000542537.1_Silent_p.A1506A|RYR2_ENST00000360064.6_Silent_p.A1520A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1522	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATTCATTGCCAATGGCAAGG	0.522000													3	38					0.004672	0.00541173	1	1	0
TRBC2	28638	broad.mit.edu	37	7	142499857	142499857	+	RNA	SNP	T	T	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr7:142499857T>C	ENST00000466254.1	+	0	474																											GGCCACCTTGTATGCCGTGCT	0.562000													4	54					0	0	1	0	0
ADM	133	broad.mit.edu	37	11	10327981	10327981	+	Missense_Mutation	SNP	G	G	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr11:10327981G>T	ENST00000526492.1	+	4	545	c.382G>T	c.(382-384)Gca>Tca	p.A128S	ADM_ENST00000534464.1_Silent_p.V70V|ADM_ENST00000528655.1_Silent_p.V117V|ADM_ENST00000525063.1_Silent_p.V117V|ADM_ENST00000278175.5_Silent_p.V117V|ADM_ENST00000530439.1_Silent_p.V49V			P35318	ADML_HUMAN	adrenomedullin	0					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CGTGCACGGTGCAGAAGCTGG	0.647000													5	37					0.184627	0.192956	1	1	0
RAB3C	115827	broad.mit.edu	37	5	58146996	58146996	+	Missense_Mutation	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr5:58146996G>C	ENST00000282878.4	+	5	671	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	CTD-2176I21.2_ENST00000510198.1_RNA	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	168					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TCCAGGGTTTGAGTTTTTTGA	0.388000													4	80					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18275119	18275119	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:18275119C>G	ENST00000251900.4	-	11	1464	c.1305G>C	c.(1303-1305)caG>caC	p.Q435H	SCML2_ENST00000398048.3_Missense_Mutation_p.Q171H	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	435					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTGGAGGGAGCTGGATGGAAT	0.418000													4	58					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128610229	128610229	+	Silent	SNP	G	G	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr7:128610229G>C	ENST00000393245.1	-	20	3046	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	TNPO3_ENST00000471166.1_Silent_p.L891L|TNPO3_ENST00000482320.1_Silent_p.L791L|TNPO3_ENST00000471234.1_Silent_p.L793L|TNPO3_ENST00000265388.5_Silent_p.L857L	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	857					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGATCTCCCAGAGCACTTCAG	0.498000													5	145					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100481442	100481442	+	Missense_Mutation	SNP	T	T	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr10:100481442T>C	ENST00000370552.3	-	5	987	c.928A>G	c.(928-930)Agg>Ggg	p.R310G	HPSE2_ENST00000370549.1_Missense_Mutation_p.R252G|HPSE2_ENST00000404542.1_Missense_Mutation_p.R198G|HPSE2_ENST00000370546.1_Missense_Mutation_p.R310G	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	310					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ACATTCTTCCTCGGCCGCCCA	0.438000													3	38					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119070590	119070590	+	Missense_Mutation	SNP	C	C	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:119070590C>G	ENST00000371410.3	-	3	689	c.523G>C	c.(523-525)Gct>Cct	p.A175P	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	175					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GAAGTAGAAGCTGAAGTAGTG	0.284000													4	36					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352229	44352229	+	Silent	SNP	C	C	T			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:44352229C>T	ENST00000324461.7	+	7	1773	c.1476C>T	c.(1474-1476)tgC>tgT	p.C492C	ZNF283_ENST00000588797.1_Silent_p.C353C	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GTAAAGAATGCGGAAAGACCT	0.403000													4	53					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129053162	129053162	+	Silent	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:129053162C>A	ENST00000394422.3	+	7	577	c.549C>A	c.(547-549)ccC>ccA	p.P183P	UTP14A_ENST00000371042.3_Silent_p.P15P|UTP14A_ENST00000371051.5_Silent_p.P129P|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.P131P	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	183					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAAGAACTCCCCTGGAGCAGG	0.453000													5	75					0.0215528	0.0237765	1	1	0
USP51	158880	broad.mit.edu	37	X	55514884	55514884	+	Silent	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chrX:55514884C>A	ENST00000500968.3	-	2	571	c.489G>T	c.(487-489)cgG>cgT	p.R163R	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	163					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AGCAGCTTCTCCGTGTCTGAG	0.726000													3	22					0.014758	0.0165432	1	1	0
VCAN	1462	broad.mit.edu	37	5	82833291	82833291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr5:82833291C>A	ENST00000265077.3	+	8	5034	c.4469C>A	c.(4468-4470)tCa>tAa	p.S1490*	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Nonsense_Mutation_p.S503*|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1490	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCTGAAACATCAGAACATTTT	0.438000													6	34					0.00198382	0.00237716	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274274	39274274	+	Silent	SNP	A	A	G			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr17:39274274A>G	ENST00000391413.2	-	1	332	c.294T>C	c.(292-294)acT>acC	p.T98T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	98	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.C99fs*>97(1)|p.T98T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ggcggcagcaAGTGGGCTGGC	0.657000													5	80					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350																											TACAGATGCTACGGTGCACAC	0.677000													3	63					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215176	141215176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:141215176C>A	ENST00000389484.3	-	61	10641	c.9670G>T	c.(9670-9672)Gaa>Taa	p.E3224*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3224					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTAGTCTTCAAACAATGTT	0.428000										TSP Lung(27;0.18)			6	99					8.12818e-05	0.00010559	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113304809	113304809	+	Silent	SNP	G	G	A	rs139968307	byFrequency	TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr8:113304809G>A	ENST00000297405.5	-	55	8989	c.8745C>T	c.(8743-8745)tgC>tgT	p.C2915C	CSMD3_ENST00000455883.2_Silent_p.C2746C|CSMD3_ENST00000352409.3_Silent_p.C2845C|CSMD3_ENST00000343508.3_Silent_p.C2875C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2915	Sushi 19.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTGGCCTGGCACTGTGCCT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	121					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	182	---	---	---	---					
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)afs	p.E116fs	DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													7	57	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													7	62	---	---	---	---					
TAF1B	9014	broad.mit.edu	37	2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(184-189)ctaaaafs	p.LK62fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	62					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337													3	6	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													7	144	---	---	---	---					
POU3F3	5455	broad.mit.edu	37	2	105472277	105472279	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr2:105472277_105472279delCGC	ENST00000361360.2	+	1	309_311	c.309_311delCGC	c.(307-312)cac>ca	p.HA103del	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	103	Ala-rich.|Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCTGCCCCAcgccgccgccgcc	0.754													2	4	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388900	1388901	+	Frame_Shift_Del	DEL	CA	CA	-	rs71299249		TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr4:1388900_1388901delCA	ENST00000324803.4	+	1	3561_3562	c.601_602delCA	c.(601-603)cfs	p.H201fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	201					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCGCCTGCTCACACGTGCCGA	0.658													7	370	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389392	1389393	+	Frame_Shift_Del	DEL	CA	CA	-	rs34525526		TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr4:1389392_1389393delCA	ENST00000324803.4	+	1	4053_4054	c.1093_1094delCA	c.(1093-1095)cfs	p.H365fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	365					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACACGTGCC	0.658													7	733	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													3	4	---	---	---	---					
CHGA	1113	broad.mit.edu	37	14	93397759	93397761	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr14:93397759_93397761delGAG	ENST00000216492.5	+	6	800_802	c.520_522delGAG	c.(520-522)del	p.E179del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	179					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TGGggaggaagaggaggaggagg	0.665													4	7	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64972995	64972997	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr15:64972995_64972997delCAC	ENST00000326648.3	+	7	4224_4226	c.4096_4098delCAC	c.(4096-4098)del	p.H1371del		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1371	Poly-His.					nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGTCCACACACCACCACCACC	0.591													8	266	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)del	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													7	331	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													14	218	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													9	104	---	---	---	---					
ZSCAN18	65982	broad.mit.edu	37	19	58596482	58596482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr19:58596482delC	ENST00000240727.6	-	7	1502	c.1103delG	c.(1102-1104)gafs	p.G368fs	ZSCAN18_ENST00000421612.2_Frame_Shift_Del_p.G232fs|ZSCAN18_ENST00000600404.1_Frame_Shift_Del_p.G424fs|ZSCAN18_ENST00000601144.1_Frame_Shift_Del_p.G368fs	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCTCTTGGTTCCCAGTTTCGC	0.726													6	12	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													7	25	---	---	---	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-38-7271-01A-11D-2036-08	TCGA-38-7271-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6732ec04-f55f-4b1d-8413-2c00af79f54e	dbc07446-ca03-467e-ac72-576d1eefda30	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaa>ga	p.EE367del	RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													13	94	---	---	---	---					
