Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TRIO	7204	broad.mit.edu	37	5	14474120	14474120	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr5:14474120G>T	uc003jff.3	+	39	6003	c.5997G>T	c.(5995-5997)atG>atT	p.M1999I	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.M1648I	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1999	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGGCACTTATGAAAGAAGATG	0.378000														181			15		2.32078e-09	2.61088e-09	1	1	0
KRT78	196374	broad.mit.edu	37	12	53241809	53241809	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:53241809C>G	uc001sbc.1	-	1	545	c.481G>C	c.(481-483)Gtc>Ctc	p.V161L		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	161	Linker 1.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCTCAAAGACAGGCTCCAGG	0.627000														31			5		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14472745	14472745	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr5:14472745G>A	uc003jff.3	+	38	5963	c.5957G>A	c.(5956-5958)cGg>cAg	p.R1986Q	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.R1635Q	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1986	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GACTATGTGCGGGACCTTGGC	0.373000														273			16		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				61			50		0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74078028	74078028	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr17:74078028G>A	uc002jqn.2	+	7	1029	c.946G>A	c.(946-948)Ggg>Agg	p.G316R	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Non-coding_Transcript|EXOC7_uc002jqp.2_3'UTR|EXOC7_uc010dgv.2_3'UTR|EXOC7_uc010wsv.2_3'UTR|EXOC7_uc002jqs.3_3'UTR|EXOC7_uc010wsw.2_3'UTR|EXOC7_uc002jqq.3_3'UTR|EXOC7_uc010wsx.2_3'UTR|EXOC7_uc002jqr.3_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	316	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCTGCTGGCTGGGCTGCTGGC	0.657000														19			15		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	T	T	rs4996269	by1000genomes	TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr1:145296403C>T	uc021oul.1	+	2	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L109L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000														198			7		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087305	47087305	+	Silent	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr10:47087305C>T	uc001jee.3	+	2	941	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.F174F|PPYR1_uc021ppu.1_Silent_p.F174F	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	174					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.P173L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCTGCCCTTCCTGGCCAACA	0.572000														68			14		0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42763340	42763340	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr13:42763340G>A	uc001uyl.2	+	14	1874	c.1807G>A	c.(1807-1809)Gtt>Att	p.V603I	DGKH_uc010tfh.2_Missense_Mutation_p.V603I|DGKH_uc001uym.2_Missense_Mutation_p.V603I|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.V358I|DGKH_uc001uyo.2_Missense_Mutation_p.V467I|DGKH_uc010tfj.2_Missense_Mutation_p.V467I|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	603					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGGGGATGACGTTACAAAACC	0.502000														35			11		0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805791	77805791	+	Silent	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr5:77805791G>A	uc003kfo.3	-	3	922	c.246C>T	c.(244-246)tgC>tgT	p.C82C		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	82						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		CGTAGGGCCCGCACAGCGTGT	0.667000														9			5		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156132735	156132735	+	Splice_Site	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr1:156132735G>A	uc001fnl.3	+	10	1163	c.984_splice	c.e10-1	p.W328_splice	SEMA4A_uc009wrq.3_Splice_Site_p.W328_splice|SEMA4A_uc001fnm.3_Splice_Site_p.W328_splice|SEMA4A_uc001fnn.3_Splice_Site_p.W196_splice|SEMA4A_uc001fno.3_Splice_Site_p.W328_splice	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	328	Sema.			CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1).	axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CTGTCTCCAGGCAGGTTGGCG	0.532000														35			11		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056182	29056182	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr18:29056182A>G	uc002kws.3	+	15	3068	c.2959A>G	c.(2959-2961)Act>Gct	p.T987A	DSG3_uc002kwt.3_Missense_Mutation_p.T269A	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	987					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGGTCACATACTATGCTCTG	0.463000														63			40		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649623	232649623	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr1:232649623C>T	uc001hvg.3	-	0	1621	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	488					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGAATTTGCGGTAATAATA	0.453000														117			4		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100152488	100152488	+	Silent	SNP	T	C	C			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr1:100152488T>C	uc001dsg.3	+	4	812	c.369T>C	c.(367-369)tcT>tcC	p.S123S		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	123					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TCTTACAGTCTGTGAAAGTGG	0.259000														20			6		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15931838	15931838	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr16:15931838G>A	uc002ddx.3	-	1	379	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MYH11_uc002ddv.3_Missense_Mutation_p.A91V|MYH11_uc002ddw.3_Missense_Mutation_p.A91V|MYH11_uc002ddy.3_Missense_Mutation_p.A91V|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.A91V	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	91	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGTCAGCTCCGCCATGTCCTC	0.542000			T	CBFB	AML									64			13		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580428	120580428	+	Silent	SNP	G	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:120580428G>T	uc001txo.3	-	43	5725	c.5712C>A	c.(5710-5712)tcC>tcA	p.S1904S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1904					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.A1903V(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACATGCAGGGACGCCTGCC	0.627000														77			15		2.23348e-06	2.43653e-06	1	1	0
SLC38A4	55089	broad.mit.edu	37	12	47181792	47181792	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:47181792C>T	uc001rpi.2	-	4	632	c.233G>A	c.(232-234)gGa>gAa	p.G78E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G78E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G78E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	78					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGAAGACATTCCAAAGGAAGT	0.428000														60			23		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304464	53304464	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr19:53304464C>T	uc002qad.3	-	3	791	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	ZNF28_uc002qac.3_Missense_Mutation_p.E158K|ZNF28_uc010eqe.3_Missense_Mutation_p.E158K|ZNF28_uc021uza.1_Missense_Mutation_p.E159K	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AAAGATTTTTCTCTCATGTGT	0.323000														72			27		0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15535885	15535885	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr17:15535885G>C	uc002gor.1	-	3	1290	c.953C>G	c.(952-954)aCt>aGt	p.T318S	CDRT1_uc002gow.3_Missense_Mutation_p.T102S|CDRT1_uc002gox.3_Missense_Mutation_p.T318S|CDRT1_uc002goy.3_Missense_Mutation_p.T188S			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	0										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TAAGTGTACAGTGGATTCCGT	0.453000														30			20		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47043969	47043969	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr3:47043969C>T	uc003cqp.3	+	31	5439	c.5260C>T	c.(5260-5262)Cgg>Tgg	p.R1754W	NBEAL2_uc010hjm.2_Missense_Mutation_p.R1131W|NBEAL2_uc010hjn.2_Missense_Mutation_p.R150W	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1754							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGTGGGCAGCGGCGCCAGTG	0.577000														18			10		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182346	5182346	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr5:5182346C>T	uc003jdl.3	+	3	829	c.691C>T	c.(691-693)Caa>Taa	p.Q231*	ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.Q231*|ADAMTS16_uc003jdj.1_Nonsense_Mutation_p.Q231*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	231					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCTGGCACATCAACCCCTGCA	0.552000														35			118		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58197150	58197150	+	Silent	SNP	G	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:58197150G>T	uc001sqj.2	-	14	1871	c.1842C>A	c.(1840-1842)gtC>gtA	p.V614V	AVIL_uc009zqe.2_Silent_p.V607V|AVIL_uc001sqk.1_Silent_p.V192V	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	614	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACGAGACTGGACATCTAGGA	0.433000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		635			29		1.99505e-19	2.31683e-19	1	1	0
USP7	7874	broad.mit.edu	37	16	8996279	8996279	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr16:8996279G>A	uc002czl.2	-	16	2099	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	USP7_uc010uyk.1_Nonsense_Mutation_p.R535*|USP7_uc010uyj.1_Nonsense_Mutation_p.R535*|USP7_uc002czk.2_Nonsense_Mutation_p.R618*|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	634	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATTGCTGGTCGTTTTGTTCCA	0.388000														21			4		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748232	94748232	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr8:94748232C>T	uc022aye.1	-	0	407	c.407G>A	c.(406-408)gGt>gAt	p.G136D	RBM12B_uc003yfz.3_Missense_Mutation_p.G136D	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	136							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ATGTCCTGTACCATTAGTATG	0.388000														121			4		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21995254	21995254	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:21995254G>A	uc001rfh.3	-	26	3487	c.3467C>T	c.(3466-3468)gCc>gTc	p.A1156V	ABCC9_uc001rfi.1_Missense_Mutation_p.A1156V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1156	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTACTTAGAGGCAACCCGAAA	0.413000														13			5		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903371	22903371	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr1:22903371T>C	uc001bfx.1	+	2	946	c.821T>C	c.(820-822)gTg>gCg	p.V274A	EPHA8_uc001bfw.3_Missense_Mutation_p.V274A	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	274	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGCCTGTGTGGGTGAGCGC	0.677000														8			13		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241944	87241944	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr8:87241944T>C	uc003ydq.1	-	0	661	c.563A>G	c.(562-564)gAg>gGg	p.E188G	SLC7A13_uc003ydr.1_Missense_Mutation_p.E188G	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	188						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTCTACATTCTCCTTTTTCCC	0.418000														56			17		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710218	41710218	+	Silent	SNP	C	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr21:41710218C>A	uc002yyq.1	-	7	2045	c.1593G>T	c.(1591-1593)ccG>ccT	p.P531P	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	531	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAGTAATACGGATAGCCAA	0.443000														47			3		0.115264	0.116887	1	1	0
MINA	84864	broad.mit.edu	37	3	97677915	97677915	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr3:97677915C>G	uc003drz.1	-	3	1167	c.661G>C	c.(661-663)Gtg>Ctg	p.V221L	MINA_uc003dsa.1_Missense_Mutation_p.V221L|MINA_uc003dsb.1_Missense_Mutation_p.V221L|MINA_uc003dsc.1_Missense_Mutation_p.V221L|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Non-coding_Transcript	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	221	JmjC.			V -> A (in Ref. 1; BAC16359).	ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						AACTCATGCACCGGCCTGCCG	0.557000														27			8		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137363356	137363356	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr7:137363356C>T	uc003vtt.3	-	2	554	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	185					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTCCCGAGACGTTGGTCTCC	0.507000														180			29		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262677	45262677	+	Silent	SNP	C	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr5:45262677C>A	uc003jok.3	-	7	2044	c.2019G>T	c.(2017-2019)ctG>ctT	p.L673L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	673						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L673L(2)|p.S672R(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGCTGTGAGACAGGCTGGTCG	0.592000														36			16		4.75885e-15	5.43868e-15	1	1	0
RPL11	6135	broad.mit.edu	37	1	24019189	24019189	+	Missense_Mutation	SNP	C	A	A	rs144975829		TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr1:24019189C>A	uc001bhk.3	+	1	142	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	RPL11_uc001bhl.3_Missense_Mutation_p.L32M	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	33					endocrine pancreas development|protein localization to nucleus|protein targeting|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TGGAGACAGACTGACGCGAGC	0.547000														101			43		1.8453e-21	2.17805e-21	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31424258	31424258	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr16:31424258G>T	uc010cap.1	+	14	1859	c.1810G>T	c.(1810-1812)Gtg>Ttg	p.V604L	ITGAD_uc002ebv.1_Missense_Mutation_p.V603L	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	603					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGACCTGGCCGTGGGGGCCCG	0.677000														36			17		0.0332995	0.0347473	1	1	0
ABCA4	24	broad.mit.edu	37	1	94471026	94471026	+	Nonsense_Mutation	SNP	G	A	A	rs61753038		TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr1:94471026G>A	uc001dqh.3	-	43	6222	c.6118C>T	c.(6118-6120)Cga>Tga	p.R2040*	ABCA4_uc001dqi.1_Nonsense_Mutation_p.R159*	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2040	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGTACACCTCGAAGCCGGGCA	0.423000														37			14		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84525723	84525723	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chrX:84525723T>G	uc004eeq.3	+	9	2199	c.1313T>G	c.(1312-1314)tTt>tGt	p.F438C	ZNF711_uc004eep.3_Missense_Mutation_p.F392C|ZNF711_uc004eeo.3_Missense_Mutation_p.F392C|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	392					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACAAAAAAGTTTAAATCCAGG	0.353000														10			8		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61430335	61430335	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr2:61430335G>C	uc002sbe.3	-	74	9470	c.9448C>G	c.(9448-9450)Cat>Gat	p.H3150D	USP34_uc002sbd.3_Intron	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	3150					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATAATAGATGGATGAACTGA	0.328000														34			16		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299816	125299816	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chrX:125299816G>C	uc004euk.2	-	0	265	c.92C>G	c.(91-93)gCg>gGg	p.A31G		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	31										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCTCCGTCCGCCGCCGCTAA	0.701000														29			3		0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64872830	64872830	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr5:64872830A>G	uc003jtv.4	+	5	1101	c.1094A>G	c.(1093-1095)gAa>gGa	p.E365G	PPWD1_uc011cqv.2_Missense_Mutation_p.E335G|PPWD1_uc011cqw.2_Missense_Mutation_p.E209G	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	365					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GTTTTTGATGAAACTGGACAC	0.368000														51			20		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45670710	45670710	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr21:45670710C>A	uc002zeg.1	-	9	1376	c.892G>T	c.(892-894)Gca>Tca	p.A298S	DNMT3L_uc002zeh.1_Missense_Mutation_p.A298S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	298					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AAGCGAGATGCGACGTCCAGG	0.647000														45			29		2.70662e-09	2.9981e-09	1	1	0
DTD1	92675	broad.mit.edu	37	20	18576794	18576794	+	Silent	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr20:18576794C>T	uc002wrf.4	+	2	440	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA.	93					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						AGCCTGATTTCCACCTAGCAA	0.522000														27			14		0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30780394	30780394	+	Silent	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr22:30780394G>A	uc003ahp.3	-	4	678	c.678C>T	c.(676-678)ctC>ctT	p.L226L	RNF215_uc011akw.2_Silent_p.L131L	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	Homo sapiens ring finger protein 215 (RNF215), mRNA.	226						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CATCCTTGGAGAGGCCACAGG	0.607000														39			14		0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42843894	42843894	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr21:42843894G>A	uc010gor.3	-	9	1086	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	TMPRSS2_uc002yzj.3_Missense_Mutation_p.P305L|TMPRSS2_uc010gos.1_Missense_Mutation_p.P305L	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	305	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CCAATGCCATGGATTGTTAAG	0.448000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									19			14		0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187860	7187860	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr17:7187860G>A	uc002gfp.3	+	6	984	c.784G>A	c.(784-786)Gat>Aat	p.D262N	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.D252N	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	262					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TGAGCTGAAGGATGAGAAGCG	0.642000														46			10		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166981296	166981296	+	Silent	SNP	A	C	C			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr4:166981296A>C	uc003irh.2	+	14	2610	c.1963A>C	c.(1963-1965)Aga>Cga	p.R655R	TLL1_uc011cjn.2_Silent_p.R678R|TLL1_uc011cjo.2_Silent_p.R479R	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	655	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R655*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACCCAGTACAGAATTTCTGT	0.418000														24			9		0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24590600	24590600	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr14:24590600G>A	uc001wlv.3	+	12	1553	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	DCAF11_uc001wlw.3_Missense_Mutation_p.D425N|DCAF11_uc001wlz.3_Missense_Mutation_p.D325N|DCAF11_uc001wly.3_Missense_Mutation_p.D381N|DCAF11_uc010tny.2_Missense_Mutation_p.D292N|DCAF11_uc001wmc.3_Missense_Mutation_p.D325N|DCAF11_uc001wmb.4_Missense_Mutation_p.D399N|DCAF11_uc001wma.4_Missense_Mutation_p.D425N	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	425						CUL4 RING ubiquitin ligase complex	protein binding										GCTCCCAGGGGACAGCTCCTT	0.577000														53			24		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120583078	120583078	+	Silent	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:120583078G>A	uc001txo.3	-	38	5017	c.5004C>T	c.(5002-5004)gaC>gaT	p.D1668D		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1668					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGCACAGGGTCCAAAAGCG	0.602000														47			10		0	0	1	0	0
TP53I13	90313	broad.mit.edu	37	17	27899412	27899412	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr17:27899412C>T	uc002hee.3	+	5	804	c.766C>T	c.(766-768)Ccg>Tcg	p.P256S		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	256						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CTCCCTGCTGCCGGGGGCGCC	0.647000														45			15		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121476582	121476582	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:121476582C>G	uc001tzj.1	-	0	199	c.193G>C	c.(193-195)Gtc>Ctc	p.V65L	OASL_uc001tzk.1_Missense_Mutation_p.V65L	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	65					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTACCTTGACTACCTTCAGC	0.607000														38			28		0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149238	119149238	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr11:119149238T>A	uc001pwe.3	+	8	1384	c.1246T>A	c.(1246-1248)Tgt>Agt	p.C416S		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	416	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.C416W(2)|p.G415S(2)|p.E366_K477del(2)|p.C416Y(2)|p.G397_I429del(2)|p.K322_D460del(1)|p.G415V(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AGGTCAGGGCTGTCCTTTCTG	0.428000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					21			19		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53241731	53241731	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:53241731A>T	uc001sbc.1	-	1	623	c.559T>A	c.(559-561)Ttg>Atg	p.L187M		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	187	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGGCCTTCAACTCAGCATCC	0.602000														48			9		0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748927	152748927	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr1:152748927C>T	uc010pdv.2	+	0	80	c.80C>T	c.(79-81)cCg>cTg	p.P27L		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgccccacaccgaagtgcccc	0.657000														64			24		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42795785	42795785	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr19:42795785C>G	uc002otf.1	+	10	2814	c.2774C>G	c.(2773-2775)cCt>cGt	p.P925R		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	925	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTCCTAGTGCCTCTGGCCGCC	0.662000			"""Mis, F, S"""		oligodendroglioma									95			51		0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9083352	9083352	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr2:9083352C>A	uc002qzg.1	-	2	396	c.263G>T	c.(262-264)tGt>tTt	p.C88F	MBOAT2_uc010yix.1_Missense_Mutation_p.C88F	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.	88					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATCATGATACAGTAGGAAAT	0.343000														35			3		1	1	1	1	0
OTOF	9381	broad.mit.edu	37	2	26698274	26698274	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr2:26698274C>T	uc002rhk.3	-	24	3206	c.3079G>A	c.(3079-3081)Gac>Aac	p.D1027N	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Missense_Mutation_p.D280N|OTOF_uc002rhi.3_Missense_Mutation_p.D337N|OTOF_uc002rhj.3_Missense_Mutation_p.D280N	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1027	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.D1027N(2)|p.D280N(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGGATCGTCCCTCAGCTCA	0.572000														35			9		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629538	1629538	+	Silent	SNP	G	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr11:1629538G>A	uc001ltw.1	-	0	156	c.78C>T	c.(76-78)tcC>tcT	p.S26S	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	26						keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCCATAGCCGGAGCCACAGC	0.662000														94			58		0	0	1	0	0
RNF4	6047	broad.mit.edu	37	4	2515509	2515509	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr4:2515509A>G	uc003gfb.3	+	7	884	c.536A>G	c.(535-537)aAg>aGg	p.K179R	RNF4_uc010icj.3_3'UTR|RNF4_uc003gfc.3_Missense_Mutation_p.K179R	NM_002938	NP_002929	P78317	RNF4_HUMAN	Homo sapiens ring finger protein 4 (RNF4), transcript variant 2, mRNA.	179					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	PML body|cytoplasm	DNA binding|SUMO polymer binding|androgen receptor binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				TGTAGGAAAAAGATCAACCAC	0.493000														72			3		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40673	40673	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chrGL000218.1:40673A>G	uc011mfn.2	-	2	346	c.257T>C	c.(256-258)gTg>gCg	p.V86A	LOC100233156_uc003jah.2_Missense_Mutation_p.V86A					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CTTGTGCCGCACGTCCTCCAG	0.667000														7			4		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721416	56721416	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:56721416C>T	uc001skx.3	-	6	1029	c.652_splice	c.e6-1	p.V218_splice	PAN2_uc001sky.3_Splice_Site_p.V218_splice|PAN2_uc001skz.3_Splice_Site_p.V218_splice	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	218					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCAGGGAAACCTAGAAAAAAA	0.443000														82			49		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10626023	10626023	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr11:10626023C>A	uc010rcc.1	-	12	2058	c.1672G>T	c.(1672-1674)Gct>Tct	p.A558S	MRVI1_uc010rcb.1_Missense_Mutation_p.A550S|MRVI1_uc001miw.2_Missense_Mutation_p.A549S|MRVI1_uc001mix.3_Missense_Mutation_p.A243S|MRVI1_uc001miz.2_Missense_Mutation_p.A467S|MRVI1_uc010rcd.1_Missense_Mutation_p.A352S|MRVI1_uc009ygd.1_Missense_Mutation_p.A243S|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	531					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCCTTTCAGCCTGGTTAATT	0.463000														36			4		0.00909568	0.00963072	1	1	0
SUZ12	23512	broad.mit.edu	37	17	30325676	30325676	+	Splice_Site	SNP	G	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr17:30325676G>T	uc002hgs.2	+	16	2097	c.1875_splice	c.e16-1	p.G625_splice	SUZ12_uc002hgt.2_Splice_Site_p.G602_splice	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	625	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTATTAAATAGGTTTATTGCT	0.274000			T	JAZF1	endometrial stromal tumours									8			3		0.115264	0.116887	1	1	0
CA2	760	broad.mit.edu	37	8	86393017	86393017	+	Silent	SNP	A	G	G			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr8:86393017A>G	uc003ydk.2	+	6	962	c.782A>G	c.(781-783)tAa>tGa	p.*261*	CA2_uc022axe.1_Non-coding_Transcript	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	0					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCCTTCAAATAAGATGGTCCC	0.468000														33			5		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371373	240371373	+	Silent	SNP	A	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr1:240371373A>T	uc010pye.2	+	5	3498	c.3273A>T	c.(3271-3273)ccA>ccT	p.P1091P	FMN2_uc010pyd.2_Silent_p.P1087P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1087	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1090S(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCACCTCCCCCTC	0.726000														19			3		0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124229192	124229192	+	Silent	SNP	C	T	T			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:124229192C>T	uc001ufr.3	+	11	1623	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	459					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCTGATGGGGCTGTTCTCAGT	0.527000														239			13		0	0	1	0	0
C8orf82	414919	broad.mit.edu	37	8	145754151	145754152	+	In_Frame_Ins	INS	-	TGGTGGTCCACG	TGGTGGTCCACG			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr8:145754151_145754152insTGGTGGTCCACG	uc003zdp.1	-	0	307_308	c.149_150insCGTGGACCACCA	c.(148-150)cag>caCGTGGACCACCAg	p.49_50insHVDH	LRRC24_uc003zdm.3_5'Flank|C8orf82_uc003zdq.1_5'UTR	NM_001001795	NP_001001795	Q6P1X6	CH082_HUMAN	Homo sapiens chromosome 8 open reading frame 82 (C8orf82), mRNA.	49										endometrium(1)|urinary_tract(1)	2						CCACCTGGCCCTGGTGGTCCAC	0.748													---	5	---	---	3	---					
DIP2B	57609	broad.mit.edu	37	12	51102305	51102305	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:51102305delC	uc001rwv.3	+	21	2765	c.2609delC	c.(2608-2610)tctfs	p.S870fs	DIP2B_uc009zlt.3_Frame_Shift_Del_p.S300fs	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	870						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCTGATGCTTCTGAGGAAGAT	0.488													---	7	---	---	4	---					
MYO1H	283446	broad.mit.edu	37	12	109874361	109874361	+	Splice_Site	DEL	G	-	-			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr12:109874361delG	uc010sxn.1	+	21	2161	c.2161_splice	c.e21+1	p.A721_splice	MYO1H_uc010sxo.1_5'Flank	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAGACAAGCAGGTAAGAATTA	0.413													---	4	---	---	2	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	-	-	rs66598941		TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr17:1631341_1631343delGAG	uc002ftj.2	+	0	3217_3219	c.3088_3090delGAG	c.(3088-3090)gagdel	p.E1033del	WDR81_uc002fth.2_5'UTR|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	305										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695													---	4	---	---	3	---					
GSTT2	2953	broad.mit.edu	37	22	24323152	24323153	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A44Q-06A-11D-A25O-08	TCGA-EB-A44Q-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A	0C93A238-4BAE-4C54-90C2-14A8C1E3995C	g.chr22:24323152_24323153insA	uc002zzb.4	+	1	201_202	c.126_127insA	c.(124-129)agcaagfs	p.S42fs	DDT_uc002zza.4_5'Flank|GSTT2_uc002zzc.4_Frame_Shift_Ins_p.S42fs	NM_000854	NP_001074312	P0CG30	GSTT2_HUMAN	Homo sapiens glutathione S-transferase theta 2 (GSTT2), mRNA.	42	GST N-terminal.					cytoplasm	glutathione transferase activity			lung(1)	1						AGCACAAGAGCAAGGAGTTCTT	0.559													---	74	---	---	12	---