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
UGGT2	55757	broad.mit.edu	37	13	96546858	96546858	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr13:96546858C>T	ENST00000376747.3	-	24	2883	c.2813G>A	c.(2812-2814)cGt>cAt	p.R938H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	938					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCGAGATGCACGCTTAGGCAC	0.358000													4	147					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94039083	94039083	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr14:94039083A>G	ENST00000553484.1	+	16	2145	c.1991A>G	c.(1990-1992)gAg>gGg	p.E664G	UNC79_ENST00000256339.4_Missense_Mutation_p.E487G|UNC79_ENST00000393151.2_Missense_Mutation_p.E664G|UNC79_ENST00000555664.1_Missense_Mutation_p.E664G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	664						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTCTCAATGGAGGAGATGTTT	0.413000													13	167					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92466345	92466345	+	Silent	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr14:92466345T>C	ENST00000267622.4	-	12	5038	c.4665A>G	c.(4663-4665)caA>caG	p.Q1555Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1555					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCATTTGTTTTTGTTTCAGGG	0.338000			T	PDGFRB	AML								7	81					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228654	21228654	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr2:21228654T>C	ENST00000233242.1	-	26	11213	c.11086A>G	c.(11086-11088)Att>Gtt	p.I3696V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3696					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCTACCAATGCTGGTGGTT	0.423000													5	114					0	0	1	0	0
TRBV10-1	0	broad.mit.edu	37	7	142231795	142231795	+	RNA	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:142231795G>A	ENST00000390364.3	-	0	189																											CTGGTGACACGCCAAGGTCAC	0.493000													13	134					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	42					0	0	1	0	0
SOX3	6658	broad.mit.edu	37	X	139586563	139586563	+	Silent	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:139586563A>G	ENST00000370536.2	-	1	662	c.663T>C	c.(661-663)gaT>gaC	p.D221D		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	221					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGGAGTACTTATCTTTCTTGA	0.692000													12	27					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													3	36					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317528	30317528	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr10:30317528T>C	ENST00000375377.1	-	3	1650	c.1549A>G	c.(1549-1551)Aga>Gga	p.R517G		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	517										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CAGCGGTCTCTCTGGTTGGGG	0.652000													13	135					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:145359169T>A	ENST00000342960.5	+	72	9144	c.9109T>A	c.(9109-9111)Ttg>Atg	p.L3037M	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3037								p.L3037M(7)		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)		GCGTGTTGGCTTGGCTGTTGA	0.458000													7	668					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26650676	26650676	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:26650676G>C	ENST00000527815.1	-	17	2131	c.2082C>G	c.(2080-2082)atC>atG	p.I694M	AIM1L_ENST00000308182.5_Missense_Mutation_p.I523M	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	523							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CGTAGTACCAGATGCAGCTAC	0.612000													6	47					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155895455	155895455	+	Silent	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:155895455T>C	ENST00000368320.3	-	7	886	c.861A>G	c.(859-861)cgA>cgG	p.R287R	KIAA0907_ENST00000368319.3_Silent_p.R287R|KIAA0907_ENST00000368321.3_Silent_p.R287R|KIAA0907_ENST00000482337.1_5'UTR			Q7Z7F0	K0907_HUMAN	KIAA0907	287										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CAAAAGCTTCTCGGCCAGATG	0.478000													28	57					0	0	1	0	0
ANKRD20A5P	0	broad.mit.edu	37	18	14183745	14183745	+	RNA	SNP	A	A	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr18:14183745A>T	ENST00000581935.1	+	0	596																				lung(3)	3						TGACAAAGAAAATAGAACGCC	0.358000													11	281					0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102957362	102957362	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:102957362C>T	ENST00000379263.3	-	13	1592	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.G395R	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	448					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTTCCATTTCCACCTCCACCA	0.378000													23	126					0	0	1	0	0
FTSJD1	0	broad.mit.edu	37	16	71319563	71319563	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr16:71319563C>T	ENST00000338099.5	-	3	597	c.261G>A	c.(259-261)gaG>gaA	p.E87E	FTSJD1_ENST00000434935.2_Silent_p.E87E			Q8IYT2	FTSJ1_HUMAN		87						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGCAGTGTGCTCATGCCACT	0.383000													6	109					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	82					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107559676	107559676	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:107559676C>T	ENST00000205402.5	+	14	1783	c.1502C>T	c.(1501-1503)gCg>gTg	p.A501V	DLD_ENST00000440410.1_Missense_Mutation_p.A478V|DLD_ENST00000537148.1_Missense_Mutation_p.A402V|DLD_ENST00000437604.2_Missense_Mutation_p.A453V	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	501					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AATCTTGCTGCGTCATTTGGC	0.323000													5	333					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28413709	28413709	+	Silent	SNP	C	C	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:28413709C>A	ENST00000261609.7	-	67	10365	c.10257G>T	c.(10255-10257)ccG>ccT	p.P3419P		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3419					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATGGCGGCCGGCATCAGGG	0.632000													3	49					0.115264	0.115264	1	1	0
ARL6	84100	broad.mit.edu	37	3	97499462	97499462	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:97499462G>C	ENST00000463745.1	+	4	666	c.189G>C	c.(187-189)ttG>ttC	p.L63F	ARL6_ENST00000394206.1_Missense_Mutation_p.L63F|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.L63F	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	63					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TTTGTAGTTTGTCATTTACAG	0.289000													16	52					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131620642	131620642	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:131620642C>T	ENST00000261654.5	+	22	2887	c.2328C>T	c.(2326-2328)ggC>ggT	p.G776G	GPR133_ENST00000376682.4_Silent_p.G462G|GPR133_ENST00000535015.1_Silent_p.G808G|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Silent_p.G295G	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	776					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGGTCTTTGGCGTGCTTGCTG	0.617000													4	41					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110778052	110778052	+	Silent	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:110778052G>A	ENST00000368919.3	-	2	288	c.222C>T	c.(220-222)acC>acT	p.T74T	SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000456137.2_Silent_p.T74T|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Silent_p.T74T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	74					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACAGGGCCCCGGTGTCCTCCA	0.507000													4	92					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57442017	57442017	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:57442017G>A	ENST00000442789.2	-	3	378	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYO1A_ENST00000300119.3_Missense_Mutation_p.R31C	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	31	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTTTCATAGCGAAGCTGAAGA	0.542000													15	26					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197021808	197021808	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:197021808T>C	ENST00000367412.1	-	9	1554	c.1511A>G	c.(1510-1512)cAg>cGg	p.Q504R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	504	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCTGTTGCACTGCACAGATAA	0.338000													27	82					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79986031	79986031	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr9:79986031G>T	ENST00000360280.3	+	67	9303	c.9043G>T	c.(9043-9045)Gac>Tac	p.D3015Y	VPS13A_ENST00000376634.4_Missense_Mutation_p.D3015Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2976Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D3015Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3015					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGCATCATAGACATGGCTAG	0.418000													5	65					1.23904e-05	1.29411e-05	1	1	0
ETHE1	23474	broad.mit.edu	37	19	44030437	44030437	+	Silent	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr19:44030437G>A	ENST00000600651.1	-	3	314	c.291C>T	c.(289-291)ggC>ggT	p.G97G	ETHE1_ENST00000292147.2_Silent_p.G97G|ZNF575_ENST00000458714.2_Intron			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	97						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CAGACTGGCAGCCAGGGAGGA	0.622000													5	47					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59453404	59453404	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:59453404T>C	ENST00000288235.4	-	24	3052	c.2653A>G	c.(2653-2655)Aac>Gac	p.N885D		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	885					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGGCCCCAGTTTTCCTTTTTC	0.567000											OREG0023156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	40					0	0	1	0	0
LTV1	84946	broad.mit.edu	37	6	144184292	144184292	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:144184292G>A	ENST00000367576.5	+	10	1320	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	396										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AGGACTCACAGCAAAGCAAAC	0.348000													4	134					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162556	90162556	+	RNA	SNP	G	G	A			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr16:90162556G>A	ENST00000564451.1	+	0	1909				TUBB8P7_ENST00000567960.1_RNA														p.E430*(1)									TGCCACGGCCGAGGAGGAGGA	0.517000													4	122					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44394423	44394423	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:44394423A>C	ENST00000371477.3	+	13	2154	c.1855A>C	c.(1855-1857)Aat>Cat	p.N619H		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	619	Interaction with DAPK3 (By similarity).				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGGAACATAATCCTTATGA	0.363000													16	70					0	0	1	0	0
CXorf38	159013	broad.mit.edu	37	X	40506561	40506561	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:40506561C>T	ENST00000327877.5	-	1	238	c.212G>A	c.(211-213)cGc>cAc	p.R71H	CXorf38_ENST00000440784.2_Missense_Mutation_p.R71H|CXorf38_ENST00000378418.2_Missense_Mutation_p.R71H|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	71										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GCTCACCTGGCGGGCGCGAGG	0.751000													4	12					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25468207	25468207	+	RNA	SNP	T	T	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:25468207T>C	ENST00000453082.2	+	0	755					NR_003343.1																						TGCCCCCAGATGGTGAGACTT	0.597000													4	13					0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27278347	27278347	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:27278347C>T	ENST00000320567.5	-	2	613	c.525G>A	c.(523-525)ccG>ccA	p.P175P		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	175										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTGGCCCTCGGGTAGGGAT	0.647000													14	42					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21062373	21062373	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr22:21062373C>T	ENST00000255882.6	-	55	6357	c.6271G>A	c.(6271-6273)Gac>Aac	p.D2091N	PI4KA_ENST00000414196.3_Missense_Mutation_p.D843N|PI4KA_ENST00000572273.1_Missense_Mutation_p.D2033N	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	2033					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGATCATGTCGTAGGTCCGG	0.587000													4	100					0	0	1	0	0
COX7B	1349	broad.mit.edu	37	X	77155051	77155051	+	Translation_Start_Site	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:77155051A>G	ENST00000481445.1	+	1	117	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	1					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CACCTTCACGATGTTTCCCTT	0.443000													7	81					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48319515	48319515	+	Silent	SNP	A	A	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:48319515A>G	ENST00000435803.1	+	18	8748	c.8724A>G	c.(8722-8724)caA>caG	p.Q2908Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2908					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAACAGATCAAAGGTAATTAA	0.343000													3	26					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108119696	108119696	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr11:108119696C>G	ENST00000278616.4	+	9	1487	c.1102C>G	c.(1102-1104)Caa>Gaa	p.Q368E	ATM_ENST00000452508.2_Missense_Mutation_p.Q368E	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	368					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGAGATTTCTCAATCTTACAC	0.328000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			3	54					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053930	95053930	+	Silent	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr14:95053930C>T	ENST00000329597.7	+	3	441	c.231C>T	c.(229-231)gcC>gcT	p.A77A	SERPINA5_ENST00000554276.1_Silent_p.A77A|SERPINA5_ENST00000553780.1_Silent_p.A77A|SERPINA5_ENST00000554866.1_Silent_p.A77A	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	77					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGAGCCTGGCCATGCTCTCCC	0.597000													3	25					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77542481	77542481	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:77542481C>G	ENST00000461745.1	+	5	1654	c.754C>G	c.(754-756)Cct>Gct	p.P252A	ROBO2_ENST00000487694.3_Missense_Mutation_p.P268A|ROBO2_ENST00000332191.8_Missense_Mutation_p.P252A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	252	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAAGGAGATCCTCAACCAAC	0.413000													24	52					0	0	1	0	0
ASB11	0	broad.mit.edu	37	X	15306083	15306083	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:15306083C>T	ENST00000537676.1	-	6	776	c.704G>A	c.(703-705)cGt>cAt	p.R235H	ASB11_ENST00000380470.3_Missense_Mutation_p.R239H|ASB11_ENST00000480796.1_Missense_Mutation_p.R256H|ASB11_ENST00000344384.4_Missense_Mutation_p.R235H			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	256					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AGCATTTCTACGCTTCAGGTT	0.572000													11	62					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088811	57088811	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr19:57088811A>C	ENST00000330619.8	+	6	1700	c.1014A>C	c.(1012-1014)aaA>aaC	p.K338N	ZNF470_ENST00000391709.3_Missense_Mutation_p.K338N|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTGGAGAGAAACCCTATGAAT	0.428000													16	29					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132166297	132166299	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:132166297_132166299delCTT	ENST00000260818.6	+	4	525_527	c.277_279delCTT	c.(277-279)del	p.L94del	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	94							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAGAACAGAACTTCTTACAGAAG	0.320													12	35	---	---	---	---					
SCD5	79966	broad.mit.edu	37	4	83601969	83601971	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr4:83601969_83601971delAGA	ENST00000319540.4	-	3	777_779	c.458_460delTCT	c.(457-462)tcc>t	p.FS153del	SCD5_ENST00000273908.4_In_Frame_Del_p.FS153del	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	153					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCAATATGGGAGAAGAAGAAGCC	0.552													30	93	---	---	---	---					
PDE8B	8622	broad.mit.edu	37	5	76707533	76707534	+	Translation_Start_Site	DEL	TG	TG	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr5:76707533_76707534delTG	ENST00000505283.1	+	0	738_739				PDE8B_ENST00000346042.3_Frame_Shift_Del_p.YV424fs|PDE8B_ENST00000333194.4_Frame_Shift_Del_p.YV466fs|PDE8B_ENST00000340978.3_Frame_Shift_Del_p.YV474fs|PDE8B_ENST00000342343.4_Frame_Shift_Del_p.YV501fs|PDE8B_ENST00000264917.5_Frame_Shift_Del_p.YV521fs			O95263	PDE8B_HUMAN	phosphodiesterase 8B						cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GAAACGAGTATGTGTTTACTAA	0.386													21	82	---	---	---	---					
ATG9B	285973	broad.mit.edu	37	7	150721483	150721484	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:150721483_150721484insC	ENST00000605938.1	-	1	102_103	c.27_28insG	c.(25-30)gggaagfs	p.K10fs	ATG9B_ENST00000377974.2_Frame_Shift_Ins_p.K10fs|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Ins_p.K10fs|ATG9B_ENST00000444312.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	10					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCTTCTTCTCCCCCCCCAGC	0.644													3	6	---	---	---	---					
TUBGCP4	27229	broad.mit.edu	37	15	43694049	43694052	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:43694049_43694052delGTAA	ENST00000564079.1	+	15	1971		c.e15+1		TUBGCP4_ENST00000260383.7_Splice_Site|TUBGCP4_ENST00000399460.3_Splice_Site	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4						G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATTGAAACCTGTAAGTAAGGCTCA	0.422													11	47	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr17:7578275_7578277delGAG	ENST00000420246.2	-	6	704_706	c.572_574delCTC	c.(571-576)cag>c	p.PQ191del	TP53_ENST00000445888.2_In_Frame_Del_p.PQ191del|TP53_ENST00000455263.2_In_Frame_Del_p.PQ191del|TP53_ENST00000359597.4_In_Frame_Del_p.PQ191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_In_Frame_Del_p.PQ191del|TP53_ENST00000269305.4_In_Frame_Del_p.PQ191del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	191	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCCAG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	33	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr18:61388270_61388271delAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386													5	8	---	---	---	---					
RRBP1	6238	broad.mit.edu	37	20	17639269	17639271	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr20:17639269_17639271delCTT	ENST00000377813.1	-	3	2185_2187	c.1882_1884delAAG	c.(1882-1884)del	p.K628del	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_In_Frame_Del_p.K198del|RRBP1_ENST00000246043.4_In_Frame_Del_p.K628del|RRBP1_ENST00000360807.4_In_Frame_Del_p.K198del			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	628					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTGAACCAGACTTCTTCTTGGCA	0.453													7	121	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76778764	76778767	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:76778764_76778767delTTTC	ENST00000373344.5	-	31	7026_7029	c.6812_6815delGAAA	c.(6811-6816)aafs	p.RK2271fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RK2233fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2271			R -> G (in MRXSHF1).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCAAGCTGCTTTTCTTTCTTCTTC	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						72	235	---	---	---	---					
