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
NBEAL2	23218	broad.mit.edu	37	3	47043969	47043969	+	Missense_Mutation	SNP	C	C	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	ENST00000450053.3	+	32	5439	c.5260C>T	c.(5260-5262)Cgg>Tgg	p.R1754W	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1570W|NBEAL2_ENST00000383740.2_Missense_Mutation_p.R33W	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	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													10	18					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748232	94748232	+	Missense_Mutation	SNP	C	C	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	ENST00000399300.2	-	3	620	c.407G>A	c.(406-408)gGt>gAt	p.G136D	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.G136D	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	136							nucleotide binding|RNA 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													4	121					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187860	7187860	+	Missense_Mutation	SNP	G	G	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	ENST00000317370.8	+	7	1052	c.784G>A	c.(784-786)Gat>Aat	p.D262N	SLC2A4_ENST00000571308.1_Missense_Mutation_p.D262N|SLC2A4_ENST00000424875.2_Missense_Mutation_p.D252N	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	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													10	46					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74078028	74078028	+	Missense_Mutation	SNP	G	G	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	ENST00000334586.5	+	8	1029	c.946G>A	c.(946-948)Ggg>Agg	p.G316R	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	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													15	19					0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64872830	64872830	+	Missense_Mutation	SNP	A	A	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	ENST00000261308.5	+	6	1166	c.1094A>G	c.(1093-1095)gAa>gGa	p.E365G	PPWD1_ENST00000538977.1_Missense_Mutation_p.E209G|PPWD1_ENST00000535264.1_Missense_Mutation_p.E335G	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	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													20	51					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	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.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													3	36					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182346	5182346	+	Nonsense_Mutation	SNP	C	C	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	ENST00000274181.7	+	4	829	c.691C>T	c.(691-693)Caa>Taa	p.Q231*	ADAMTS16_ENST00000511368.1_Nonsense_Mutation_p.Q231*	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	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													118	35					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94471026	94471026	+	Nonsense_Mutation	SNP	G	G	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	ENST00000370225.3	-	44	6204	c.6118C>T	c.(6118-6120)Cga>Tga	p.R2040*	ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R159*|ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R310*|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	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													14	37					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86393017	86393017	+	Silent	SNP	A	A	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	ENST00000285379.5	+	7	1012	c.782A>G	c.(781-783)tAa>tGa	p.*261*		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	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													5	33					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262677	45262677	+	Silent	SNP	C	C	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	ENST00000303230.4	-	8	2076	c.2019G>T	c.(2017-2019)ctG>ctT	p.L673L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	673						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L673L(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													16	36					4.75885e-15	5.41777e-15	1	1	0
DOT1L	84444	broad.mit.edu	37	19	2210753	2210753	+	Missense_Mutation	SNP	T	T	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.chr19:2210753T>G	ENST00000398665.3	+	14	1286	c.1250T>G	c.(1249-1251)aTg>aGg	p.M417R		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	417						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAAGAAGATGAACACTGCG	0.617000													19	46					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24590600	24590600	+	Missense_Mutation	SNP	G	G	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	ENST00000446197.3	+	13	2000	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	DCAF11_ENST00000396941.4_Missense_Mutation_p.D399N|DCAF11_ENST00000396936.1_Missense_Mutation_p.D325N|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.G14E|DCAF11_ENST00000559115.1_Missense_Mutation_p.D425N	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	425						CUL4 RING ubiquitin ligase complex	protein binding										GCTCCCAGGGGACAGCTCCTT	0.577000													24	53					0	0	1	0	0
RNF4	6047	broad.mit.edu	37	4	2515509	2515509	+	Missense_Mutation	SNP	A	A	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	ENST00000511600.1	+	8	2051	c.536A>G	c.(535-537)aAg>aGg	p.K179R	RNF4_ENST00000541204.1_Missense_Mutation_p.K179R|RNF4_ENST00000314289.8_Missense_Mutation_p.K179R|RNF4_ENST00000506706.1_Missense_Mutation_p.K179R|RNF4_ENST00000511859.1_3'UTR			P78317	RNF4_HUMAN	ring finger protein 4	179					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|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													3	72					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304464	53304464	+	Missense_Mutation	SNP	C	C	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	ENST00000438150.2	-	2	1368	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	ZNF28_ENST00000457749.2_Missense_Mutation_p.E212K|ZNF28_ENST00000414252.2_Missense_Mutation_p.E159K|ZNF28_ENST00000360272.4_Missense_Mutation_p.E159K			P17035	ZNF28_HUMAN	zinc finger protein 28	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													27	72					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42763340	42763340	+	Missense_Mutation	SNP	G	G	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	ENST00000379274.2	+	15	1828	c.1399G>A	c.(1399-1401)Gtt>Att	p.V467I	DGKH_ENST00000536612.1_Missense_Mutation_p.V467I|DGKH_ENST00000337343.4_Missense_Mutation_p.V603I|DGKH_ENST00000261491.4_Missense_Mutation_p.V603I|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.V358I|DGKH_ENST00000540693.1_Missense_Mutation_p.V603I			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	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													11	35					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45670710	45670710	+	Missense_Mutation	SNP	C	C	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	ENST00000270172.3	-	10	1375	c.892G>T	c.(892-894)Gca>Tca	p.A298S	AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000418993.1_Missense_Mutation_p.A298S	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	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													29	45					2.70662e-09	2.9894e-09	1	1	0
CEACAM8	1088	broad.mit.edu	37	19	43097837	43097837	+	Missense_Mutation	SNP	C	C	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.chr19:43097837C>T	ENST00000244336.5	-	2	381	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	94	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TTGCTGTATGCAGGCCCTGGG	0.473000													4	159					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149238	119149238	+	Missense_Mutation	SNP	T	T	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	ENST00000264033.4	+	9	1622	c.1246T>A	c.(1246-1248)Tgt>Agt	p.C416S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	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	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.G397_I429del(1)|p.E366_K477del(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				19	21					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121476582	121476582	+	Missense_Mutation	SNP	C	C	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	ENST00000257570.5	-	1	463	c.193G>C	c.(193-195)Gtc>Ctc	p.V65L	OASL_ENST00000339275.5_Missense_Mutation_p.V65L	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	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													28	38					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710218	41710218	+	Silent	SNP	C	C	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	ENST00000400454.1	-	8	2070	c.1593G>T	c.(1591-1593)ccG>ccT	p.P531P		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	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													3	47					0.115264	0.116843	1	1	0
SLC7A13	157724	broad.mit.edu	37	8	87241944	87241944	+	Missense_Mutation	SNP	T	T	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	ENST00000297524.3	-	1	666	c.563A>G	c.(562-564)gAg>gGg	p.E188G	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.E188G	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	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													17	56					0	0	1	0	0
TRIM16	10626	broad.mit.edu	37	17	15535885	15535885	+	Missense_Mutation	SNP	G	G	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	ENST00000455584.2	-	4	996	c.953C>G	c.(952-954)aCt>aGt	p.T318S	TRIM16_ENST00000577886.1_Missense_Mutation_p.T102S|TRIM16_ENST00000416464.2_Missense_Mutation_p.T188S|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.T318S|TRIM16_ENST00000336708.7_Missense_Mutation_p.T318S																							TAAGTGTACAGTGGATTCCGT	0.453000													20	30					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903371	22903371	+	Missense_Mutation	SNP	T	T	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	ENST00000166244.3	+	3	893	c.821T>C	c.(820-822)gTg>gCg	p.V274A	EPHA8_ENST00000374644.4_Missense_Mutation_p.V274A|EPHA8_ENST00000538803.1_Missense_Mutation_p.V274A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	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													13	8					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9083352	9083352	+	Missense_Mutation	SNP	C	C	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	ENST00000305997.3	-	3	461	c.263G>T	c.(262-264)tGt>tTt	p.C88F	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	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													3	35					1	1	1	1	0
DDX11L1	100287102	broad.mit.edu	37	1	13273	13273	+	RNA	SNP	G	G	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.chr1:13273G>C	ENST00000456328.2	+	0	521					NR_046018.2|NR_051986.1																						TCCTGGACCAGTGATACACCC	0.582000													4	5					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120583078	120583078	+	Silent	SNP	G	G	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	ENST00000300648.6	-	39	5016	c.5004C>T	c.(5002-5004)gaC>gaT	p.D1668D		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	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													10	47					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	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	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		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|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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)			50	61					0	0	1	0	0
DTD1	92675	broad.mit.edu	37	20	18576794	18576794	+	Silent	SNP	C	C	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	ENST00000377452.3	+	3	459	c.279C>T	c.(277-279)ttC>ttT	p.F93F	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	93					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						AGCCTGATTTCCACCTAGCAA	0.522000													14	27					0	0	1	0	0
TP53I13	90313	broad.mit.edu	37	17	27899412	27899412	+	Missense_Mutation	SNP	C	C	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	ENST00000301057.7	+	6	881	c.766C>T	c.(766-768)Ccg>Tcg	p.P256S	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	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													15	45					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26698274	26698274	+	Missense_Mutation	SNP	C	C	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	ENST00000272371.2	-	25	3205	c.3079G>A	c.(3079-3081)Gac>Aac	p.D1027N	OTOF_ENST00000403946.3_Missense_Mutation_p.D1027N|OTOF_ENST00000339598.3_Missense_Mutation_p.D280N|OTOF_ENST00000402415.3_Missense_Mutation_p.D337N|OTOF_ENST00000338581.6_Missense_Mutation_p.D280N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	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.D280N(1)|p.D1027N(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													9	35					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42843894	42843894	+	Missense_Mutation	SNP	G	G	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	ENST00000398585.3	-	10	1085	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.P305L|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.P305L	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	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								14	19					0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97677915	97677915	+	Missense_Mutation	SNP	C	C	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	ENST00000333396.6	-	4	1243	c.661G>C	c.(661-663)Gtg>Ctg	p.V221L	MINA_ENST00000330299.2_Missense_Mutation_p.V221L|MINA_ENST00000394198.2_Missense_Mutation_p.V221L|MINA_ENST00000360258.4_Missense_Mutation_p.V221L	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	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													8	27					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100152488	100152488	+	Silent	SNP	T	T	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	ENST00000263174.4	+	5	744	c.369T>C	c.(367-369)tcT>tcC	p.S123S	PALMD_ENST00000605497.1_Silent_p.S123S	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	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													6	20					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056182	29056182	+	Missense_Mutation	SNP	A	A	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	ENST00000257189.4	+	16	3042	c.2959A>G	c.(2959-2961)Act>Gct	p.T987A		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	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													40	63					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629538	1629538	+	Silent	SNP	G	G	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	ENST00000399685.1	-	1	155	c.78C>T	c.(76-78)tcC>tcT	p.S26S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	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													58	94					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166981296	166981296	+	Silent	SNP	A	A	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	ENST00000061240.2	+	15	2610	c.1963A>C	c.(1963-1965)Aga>Cga	p.R655R	TLL1_ENST00000507499.1_Silent_p.R678R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	655	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R655*(2)		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													9	24					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30325676	30325676	+	Splice_Site	SNP	G	G	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	ENST00000322652.5	+	16	2103		c.e16-1		SUZ12_ENST00000580398.1_Splice_Site	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit						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								3	8					0.115264	0.116843	1	1	0
KRT78	196374	broad.mit.edu	37	12	53241809	53241809	+	Missense_Mutation	SNP	C	C	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	ENST00000359499.4	-	2	162	c.151G>C	c.(151-153)Gtc>Ctc	p.V51L	KRT78_ENST00000304620.4_Missense_Mutation_p.V161L			Q8N1N4	K2C78_HUMAN	keratin 78	161	Gly-rich.|Head.					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													5	31					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649623	232649623	+	Missense_Mutation	SNP	C	C	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	ENST00000366630.1	-	2	1821	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R488H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	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													4	117					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58197150	58197150	+	Silent	SNP	G	G	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	ENST00000537081.1	-	15	1820	c.1821C>A	c.(1819-1821)gtC>gtA	p.V607V	AVIL_ENST00000257861.3_Silent_p.V614V|AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron			O75366	AVIL_HUMAN	advillin	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)	29	635					1.99505e-19	2.30678e-19	1	1	0
ABCC9	10060	broad.mit.edu	37	12	21995254	21995254	+	Missense_Mutation	SNP	G	G	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	ENST00000261200.4	-	27	3466	c.3467C>T	c.(3466-3468)gCc>gTc	p.A1156V	ABCC9_ENST00000261201.4_Missense_Mutation_p.A1156V|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.A1120V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	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													5	13					0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24019189	24019189	+	Missense_Mutation	SNP	C	C	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	ENST00000374550.3	+	2	142	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	33					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|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													43	101					1.8453e-21	2.16749e-21	1	1	0
USP7	7874	broad.mit.edu	37	16	8996279	8996279	+	Nonsense_Mutation	SNP	G	G	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	ENST00000344836.4	-	17	2098	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	USP7_ENST00000535863.1_Nonsense_Mutation_p.R535*|USP7_ENST00000381886.4_Nonsense_Mutation_p.R618*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	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	cytoplasm|PML body	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													4	21					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299816	125299816	+	Missense_Mutation	SNP	G	G	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	ENST00000538699.1	-	2	172	c.92C>G	c.(91-93)gCg>gGg	p.A31G	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A31G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	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													3	29					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371373	240371373	+	Silent	SNP	A	A	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	ENST00000319653.9	+	5	3491	c.3261A>T	c.(3259-3261)ccA>ccT	p.P1087P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	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			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													3	19					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53241731	53241731	+	Missense_Mutation	SNP	A	A	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	ENST00000359499.4	-	2	240	c.229T>A	c.(229-231)Ttg>Atg	p.L77M	KRT78_ENST00000304620.4_Missense_Mutation_p.L187M			Q8N1N4	K2C78_HUMAN	keratin 78	187	Gly-rich.|Head.					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													9	48					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748927	152748927	+	Missense_Mutation	SNP	C	C	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	ENST00000334371.2	+	1	80	c.80C>T	c.(79-81)cCg>cTg	p.P27L		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	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													24	64					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84525723	84525723	+	Missense_Mutation	SNP	T	T	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	ENST00000360700.4	+	10	2199	c.1313T>G	c.(1312-1314)tTt>tGt	p.F438C	ZNF711_ENST00000395402.1_Missense_Mutation_p.F400C|ZNF711_ENST00000542798.1_Missense_Mutation_p.F234C|ZNF711_ENST00000276123.3_Missense_Mutation_p.F392C|ZNF711_ENST00000373165.3_Missense_Mutation_p.F392C			Q9Y462	ZN711_HUMAN	zinc finger protein 711	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													8	10					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103347150	103347150	+	Translation_Start_Site	SNP	G	G	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.chr10:103347150G>A	ENST00000370162.3	-	0	462				DPCD_ENST00000470165.1_3'UTR|POLL_ENST00000370172.1_Intron|POLL_ENST00000299206.4_De_novo_Start_OutOfFrame|POLL_ENST00000456836.2_De_novo_Start_OutOfFrame|POLL_ENST00000436284.2_Intron|POLL_ENST00000370158.3_De_novo_Start_OutOfFrame|DPCD_ENST00000416979.2_De_novo_Start_OutOfFrame|POLL_ENST00000370169.1_De_novo_Start_OutOfFrame|POLL_ENST00000339310.3_De_novo_Start_OutOfFrame	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda						DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CTATTGGAGCGTTGGTCAGGG	0.532000								DNA polymerases (catalytic subunits)					12	23					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15931838	15931838	+	Missense_Mutation	SNP	G	G	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	ENST00000338282.6	-	2	378	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MYH11_ENST00000576790.1_Missense_Mutation_p.A91V|MYH11_ENST00000300036.5_Missense_Mutation_p.A91V|MYH11_ENST00000396324.3_Missense_Mutation_p.A91V|MYH11_ENST00000452625.2_Missense_Mutation_p.A91V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	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	actin binding|ATP 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								13	64					0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805791	77805791	+	Silent	SNP	G	G	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	ENST00000380345.2	-	4	921	c.246C>T	c.(244-246)tgC>tgT	p.C82C	LHFPL2_ENST00000515007.2_Silent_p.C82C	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	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													5	9					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181792	47181792	+	Missense_Mutation	SNP	C	C	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	ENST00000447411.1	-	4	439	c.233G>A	c.(232-234)gGa>gAa	p.G78E	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G78E	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	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													23	60					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31424258	31424258	+	Missense_Mutation	SNP	G	G	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	ENST00000389202.2	+	15	1856	c.1807G>T	c.(1807-1809)Gtg>Ttg	p.V603L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	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													17	36					0.0332995	0.0347065	1	1	0
TRIO	7204	broad.mit.edu	37	5	14474120	14474120	+	Missense_Mutation	SNP	G	G	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	ENST00000344204.4	+	40	6021	c.5997G>T	c.(5995-5997)atG>atT	p.M1999I	TRIO_ENST00000537187.1_Missense_Mutation_p.M1999I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	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|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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													15	181					2.32078e-09	2.60209e-09	1	1	0
USP34	9736	broad.mit.edu	37	2	61430335	61430335	+	Missense_Mutation	SNP	G	G	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	ENST00000398571.2	-	75	9524	c.9448C>G	c.(9448-9450)Cat>Gat	p.H3150D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3150					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		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													16	34					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14472745	14472745	+	Missense_Mutation	SNP	G	G	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	ENST00000344204.4	+	39	5981	c.5957G>A	c.(5956-5958)cGg>cAg	p.R1986Q	TRIO_ENST00000537187.1_Missense_Mutation_p.R1986Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	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|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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													16	273					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124229192	124229192	+	Silent	SNP	C	C	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	ENST00000330342.3	+	12	1623	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	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													13	239					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30780394	30780394	+	Silent	SNP	G	G	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	ENST00000382363.3	-	5	752	c.678C>T	c.(676-678)ctC>ctT	p.L226L		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	226						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CATCCTTGGAGAGGCCACAGG	0.607000													14	39					0	0	1	0	0
SPATA31D4	389761	broad.mit.edu	37	9	84549507	84549507	+	RNA	SNP	C	C	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.chr9:84549507C>T	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							GGGCTATCCCCGCAACTACAC	0.507000													7	9					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137363356	137363356	+	Missense_Mutation	SNP	C	C	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	ENST00000424189.2	-	3	782	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.V185I|DGKI_ENST00000446122.1_Missense_Mutation_p.V185I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	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													29	180					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880426	153880426	+	Missense_Mutation	SNP	C	C	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:153880426C>G	ENST00000369585.3	-	3	572	c.520G>C	c.(520-522)Gct>Cct	p.A174P	CTAG2_ENST00000247306.4_3'UTR	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	0						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGAGGGAGCCTGAGCCAAA	0.602000													4	11					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10626023	10626023	+	Missense_Mutation	SNP	C	C	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	ENST00000547195.1	-	12	1899	c.1399G>T	c.(1399-1401)Gct>Tct	p.A467S	MRVI1_ENST00000421747.1_Missense_Mutation_p.A549S|MRVI1_ENST00000436272.1_Missense_Mutation_p.A531S|MRVI1_ENST00000423302.2_Missense_Mutation_p.A558S|MRVI1_ENST00000545852.1_Missense_Mutation_p.A243S|MRVI1_ENST00000531107.1_Missense_Mutation_p.A550S|MRVI1_ENST00000552103.1_Missense_Mutation_p.A467S|MRVI1_ENST00000424001.1_Missense_Mutation_p.A243S|MRVI1_ENST00000558540.1_Missense_Mutation_p.A243S|MRVI1_ENST00000534266.2_Missense_Mutation_p.A243S|MRVI1_ENST00000541483.1_Missense_Mutation_p.A352S|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.A467S	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	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													4	36					0.00909568	0.00961543	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120580428	120580428	+	Silent	SNP	G	G	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	ENST00000300648.6	-	44	5724	c.5712C>A	c.(5710-5712)tcC>tcA	p.S1904S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1904					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)					AGACATGCAGGGACGCCTGCC	0.627000													15	77					2.23348e-06	2.43056e-06	1	1	0
CIC	23152	broad.mit.edu	37	19	42795785	42795785	+	Missense_Mutation	SNP	C	C	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	ENST00000572681.2	+	12	5569	c.5501C>G	c.(5500-5502)cCt>cGt	p.P1834R	CIC_ENST00000160740.3_Missense_Mutation_p.P925R|CIC_ENST00000575354.2_Missense_Mutation_p.P925R			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	925					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								51	95					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087305	47087305	+	Silent	SNP	C	C	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	ENST00000374312.1	+	3	941	c.522C>T	c.(520-522)ttC>ttT	p.F174F	NPY4R_ENST00000395716.1_Silent_p.F174F	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CCCTGCCCTTCCTGGCCAACA	0.572000													14	68					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156132735	156132735	+	Splice_Site	SNP	G	G	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	ENST00000368285.3	+	10	1251	c.983_splice	c.e10-1	p.W328_splice	SEMA4A_ENST00000355014.2_Splice_Site_p.W328_splice|SEMA4A_ENST00000368286.2_Splice_Site_p.W196_splice|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Splice_Site_p.W196_splice|SEMA4A_ENST00000368282.1_Splice_Site_p.W328_splice	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	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													11	35					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721416	56721416	+	Splice_Site	SNP	C	C	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	ENST00000425394.2	-	6	1028		c.e6-1		PAN2_ENST00000440411.3_Splice_Site|PAN2_ENST00000257931.5_Splice_Site|PAN2_ENST00000548043.1_Splice_Site	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)						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													49	82					0	0	1	0	0
C8orf82	414919	broad.mit.edu	37	8	145754151	145754152	+	In_Frame_Ins	INS	-	-	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	ENST00000524821.1	-	1	364_365	c.149_150insCGTGGACCACCA	c.(148-150)cgg>cCGTGGACCACCAgg	p.49_50insPWTT	C8orf82_ENST00000313465.5_In_Frame_Ins_p.49_50insPWTT			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	49										endometrium(1)|urinary_tract(1)	2						CCACCTGGCCCTGGTGGTCCAC	0.748													3	5	---	---	---	---					
RP11-34D15.2	0	broad.mit.edu	37	10	102104601	102104601	+	RNA	DEL	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.chr10:102104601delT	ENST00000429420.1	-	0	103																											AAAATCACAAttttttttttt	0.403													2	4	---	---	---	---					
DIP2B	57609	broad.mit.edu	37	12	51102305	51102305	+	Frame_Shift_Del	DEL	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.chr12:51102305delC	ENST00000301180.5	+	22	2643	c.2609delC	c.(2608-2610)ttfs	p.S870fs		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	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													4	7	---	---	---	---					
MYO1H	283446	broad.mit.edu	37	12	109874361	109874361	+	Splice_Site	DEL	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.chr12:109874361delG	ENST00000310903.5	+	22	2267	c.2161_splice	c.e22+1	p.A721_splice	MYO1H_ENST00000431443.2_Splice_Site_p.A731_splice			B4DNW6	B4DNW6_HUMAN	myosin IH	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													2	4	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	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	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)del	p.E1033del	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_5'UTR	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	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													3	4	---	---	---	---					
GSTT2	2953	broad.mit.edu	37	22	24323152	24323153	+	Frame_Shift_Ins	INS	-	-	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	ENST00000215780.5	+	2	176_177	c.126_127insA	c.(124-129)agaggafs	p.G43fs	GSTT2_ENST00000402588.3_Frame_Shift_Ins_p.G43fs	NM_000854.3	NP_000845.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	43	GST N-terminal.					cytoplasm	glutathione transferase activity			lung(1)	1						AGCACAAGAGCAAGGAGTTCTT	0.559													12	74	---	---	---	---					
