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
OMA1	115209	broad.mit.edu	37	1	58999969	58999969	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:58999969T>C	uc001cyy.3	-	3	852	c.764A>G	c.(763-765)gAg>gGg	p.E255G	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.E255G|OMA1_uc009vzz.3_Missense_Mutation_p.E255G	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	255					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GGCATCTTTCTCAGTTAGCAT	0.338000													19	3					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27310644	27310644	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr8:27310644G>A	uc003xfn.2	+	32	3370	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G	PTK2B_uc022ate.1_Silent_p.G854G|PTK2B_uc003xfp.2_Silent_p.G854G|PTK2B_uc003xfq.2_Silent_p.G812G	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	854	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGTTCACAGGGCCCCCACAGA	0.542000													39	58					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153881577	153881577	+	Silent	SNP	C	C	T	rs140132753		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:153881577C>T	uc004fmi.2	-	0	277	c.213G>A	c.(211-213)gcG>gcA	p.A71A	CTAG2_uc004fmh.2_Silent_p.A71A	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	71	Gly-rich.					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)					TTCCATCCTGCGCAGAAGCGG	0.711000													19	57					0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166263064	166263064	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr4:166263064A>G	uc003ire.3	+	5	978	c.848A>G	c.(847-849)gAa>gGa	p.E283G	MSMO1_uc003irf.3_Missense_Mutation_p.E152G	NM_006745	NP_006736	Q15800	ERG25_HUMAN	Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript variant 1, mRNA.	283					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	GCCTATAATGAAAAGAGGAAG	0.343000													24	27					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415849	19415849	+	RNA	SNP	T	T	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr13:19415849T>A	uc010tcj.1	-	0		c.30261A>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATTTCCTTCTTTGACCtttaa	0.264000													3	21					0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2595751	2595751	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:2595751C>T	uc002fuy.1	-	21	3433	c.3347G>A	c.(3346-3348)gGg>gAg	p.G1116E	KIAA0664_uc002fux.1_Missense_Mutation_p.G1049E|KIAA0664_uc010ckc.1_Missense_Mutation_p.G102E	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	1116							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						CTCCATCACCCCGTGCAGCAC	0.701000													11	51					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25399896	25399896	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr13:25399896G>A	uc001upr.3	+	15	2272	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	RNF17_uc010tdd.1_Missense_Mutation_p.R603Q|RNF17_uc010tde.2_Missense_Mutation_p.R744Q|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R683Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	744	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTTGGTACCGAGCAAAAGTT	0.378000													17	81					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	657235	657235	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:657235G>C	uc001qii.1	+	7	753	c.753G>C	c.(751-753)caG>caC	p.Q251H	B4GALNT3_uc001qij.1_Missense_Mutation_p.Q153H	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	251						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.K250K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGCACAAGCAGAATGAGGAGG	0.622000													20	29					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	665815	665815	+	Silent	SNP	C	C	T	rs150429681	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:665815C>T	uc001qii.1	+	14	2163	c.2163C>T	c.(2161-2163)cgC>cgT	p.R721R	B4GALNT3_uc001qik.1_Silent_p.R270R	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	721						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAGGCCAGCGCGTGGTGCGGC	0.622000													38	55					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723545	49723545	+	Missense_Mutation	SNP	G	G	A	rs4052562		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr3:49723545G>A	uc003cxg.3	-	8	1169	c.1097C>T	c.(1096-1098)gCg>gTg	p.A366V	MST1_uc011bcs.1_Missense_Mutation_p.R405W|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	352					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAAAAGGCCGCGCGCATGCC	0.667000													4	38					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156841489	156841489	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:156841489G>A	uc001fqh.1	+	6	848	c.792G>A	c.(790-792)acG>acA	p.T264T	NTRK1_uc001fqf.1_Silent_p.T234T|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Silent_p.T264T|NTRK1_uc009wsk.1_Silent_p.T264T	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	264	Ig-like C2-type 1.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.T264M(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGAACGTGACGTGCTGGGCAG	0.592000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			9	108					0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69500075	69500075	+	Silent	SNP	G	G	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:69500075G>T	uc004dyb.2	+	12	1004	c.936G>T	c.(934-936)ctG>ctT	p.L312L	ARR3_uc004dya.3_Silent_p.L312L|RAB41_uc010nkv.3_5'Flank	NM_004312	NP_004303	P36575	ARRC_HUMAN	Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA.	312					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AAGAGCTGCTGGGGATCCTGG	0.502000													51	79					2.84144e-21	3.10782e-21	1	1	0
FASN	2194	broad.mit.edu	37	17	80051592	80051592	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:80051592G>A	uc002kdu.3	-	3	453	c.336C>T	c.(334-336)agC>agT	p.S112S		NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	112	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCTCAGAGCCGCTCACGCCCA	0.657000													36	59					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3677958	3677958	+	Silent	SNP	C	C	G			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:3677958C>G	uc001akv.2	+	4	906	c.825C>G	c.(823-825)ggC>ggG	p.G275G		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	275										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCTGAAAGGCAAAGGCCAAG	0.567000													4	53					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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								27	37					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005290	101005290	+	Silent	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr14:101005290C>T	uc010txa.2	-	5	944	c.798G>A	c.(796-798)gcG>gcA	p.A266A	BEGAIN_uc001yhp.3_Silent_p.A202A|BEGAIN_uc001yhq.3_Silent_p.A266A	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	266						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCTCCTCGGCCGCGCTGTCAG	0.726000													11	27					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959762	102959762	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:102959762T>A	uc002tbu.1	+	7	1128	c.857T>A	c.(856-858)gTt>gAt	p.V286D	IL1RL1_uc010ywa.2_Missense_Mutation_p.V169D|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.V286D	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	286	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTAGACATGGTTTTAAGAATA	0.453000													45	130					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79601943	79601943	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr10:79601943G>A	uc001jzk.3	-	6	1203	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	DLG5_uc001jzj.3_Missense_Mutation_p.A133V|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_5'UTR	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	378					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGGTGGATCGCCTCAAACCT	0.652000													53	60					0	0	1	0	0
POLR3K	51728	broad.mit.edu	37	16	97470	97470	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:97470T>C	uc002cfi.2	-	2	333	c.287A>G	c.(286-288)aAg>aGg	p.K96R		NM_016310	NP_057394	Q9Y2Y1	RPC10_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa (POLR3K), mRNA.	96					innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATTGCAGCACTTGTAGAAGGT	0.557000													44	61					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70679529	70679529	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:70679529G>T	uc004dzu.4	+	35	5240	c.5189G>T	c.(5188-5190)aGt>aTt	p.S1730I	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S1751I|TAF1_uc004dzv.4_Missense_Mutation_p.S938I|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Missense_Mutation_p.S155I|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1730	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGCTGGGAGTGATGAAGAA	0.468000													5	124					0.00116845	0.00120281	1	1	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053406	106053406	+	Silent	SNP	G	G	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr14:106053406G>T	uc001yrt.3	-	3	940	c.909C>A	c.(907-909)acC>acA	p.T303T	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		TGCAGGAGAAGGTCTCCCCCT	0.622000													3	34					0.00024832	0.00026337	1	1	0
MST1	4485	broad.mit.edu	37	3	49723542	49723542	+	Missense_Mutation	SNP	G	G	C	rs2087732		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr3:49723542G>C	uc003cxg.3	-	8	1172	c.1100C>G	c.(1099-1101)gCc>gGc	p.A367G	MST1_uc011bcs.1_Missense_Mutation_p.P406A|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	353					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTAGCAAAAGGCCGCGCGCAT	0.672000													3	43					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80770981	80770981	+	Splice_Site	SNP	C	C	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:80770981C>A	uc001szd.3	+	57	6840	c.6834_splice	c.e57+1	p.P2278_splice	OTOGL_uc021rba.1_Splice_Site_p.P297_splice|OTOGL_uc009zsg.2_Splice_Site_p.P158_splice	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGCCAAAGCCCTGTAAGTGGA	0.353000													3	38					1	1	1	1	0
GGT3P	2679	broad.mit.edu	37	22	18778603	18778603	+	RNA	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr22:18778603C>T	uc011ago.1	-	1		c.217G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		TTGGCATCCGCGGCCACGGCA	0.627000													3	26					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264405	1264405	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:1264405A>C	uc001lta.3	+	30	6354	c.6295A>C	c.(6295-6297)Acc>Ccc	p.T2099P		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2099	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCGGGGACCACCCACACCGC	0.632000													12	19					0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120590817	120590817	+	Splice_Site	SNP	T	T	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542000													4	15					0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122005806	122005806	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:122005806G>A	uc002tmx.3	-	4	531	c.438C>T	c.(436-438)agC>agT	p.S146S	TFCP2L1_uc010flr.3_Silent_p.S146S	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	146					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCTGGGTCGGGCTGGCCCTGG	0.527000													3	35					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr4:149075976T>G	uc003ilj.4	-	4	2454	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													4	14					0	0	1	0	0
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	Frame_Shift_Del	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr7:74300557_74300564delAGAGCTCC	uc022afy.1	-	2	316_323	c.243_250delGGAGCTCT	c.(241-252)ctggagctcttcfs	p.L81fs	STAG3L2_uc011kfj.2_Non-coding_Transcript|STAG3L2_uc022afz.1_Non-coding_Transcript			P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.	81	SCD.					nucleus	binding	p.E82fs*32(4)|p.R80C(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													5	5	---	---	---	---					
PMPCB	9512	broad.mit.edu	37	7	102948108	102948109	+	Frame_Shift_Del	DEL	AA	AA	-	rs141254128		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr7:102948108_102948109delAA	uc003vbk.1	+	6	836_837	c.802_803delAA	c.(802-804)aaafs	p.K268fs	PMPCB_uc010liu.1_Frame_Shift_Del_p.K268fs|PMPCB_uc003vbl.3_Frame_Shift_Del_p.K268fs|PMPCB_uc011kll.1_Frame_Shift_Del_p.K163fs|PMPCB_uc011klm.1_Frame_Shift_Del_p.K143fs	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	268					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCACACACAAAGGAGAAATA	0.396													10	41	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr8:144511954_144511956delTGG	uc003yyc.2	-	0	647_649	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H		NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) (MAFA), mRNA.	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(6)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			3	5	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr9:139413070_139413072delAGA	uc004chz.3	-	5	1070_1072	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	357	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(6)|p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	43	---	---	---	---					
IGF2	3481	broad.mit.edu	37	11	2154242	2154242	+	Frame_Shift_Del	DEL	G	G	-	rs1050342		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:2154242delG	uc009yde.3	-	3	621	c.518delC	c.(517-519)ccafs	p.P173fs	IGF2_uc001lvf.3_Non-coding_Transcript|IGF2_uc001lvg.3_Frame_Shift_Del_p.P173fs|IGF2_uc009ydf.3_Frame_Shift_Del_p.P229fs|IGF2_uc021qcb.1_Frame_Shift_Del_p.P173fs|IGF2_uc001lvh.3_Frame_Shift_Del_p.P173fs|IGF2_uc001lvi.3_Non-coding_Transcript	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA.	173			P -> Q (in dbSNP:rs1050342).		glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGCCATCTCTGGGGGGGCGCC	0.657													7	298	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42791207	42791208	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42791207_42791208delAG	uc002otf.1	+	2	307_308	c.267_268delAG	c.(265-270)acagggfs	p.T89fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	89	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGTGGGACAGGGAGTGCTGA	0.649			"""Mis, F, S"""		oligodendroglioma								8	102	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42793215_42793218delCAGT	uc002otf.1	+	6	1147_1150	c.1107_1110delCAGT	c.(1105-1110)gacagtfs	p.D369fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	369					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)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"""Mis, F, S"""		oligodendroglioma								28	59	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42796554	42796555	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42796554_42796555delTG	uc002otf.1	+	12	3151_3152	c.3111_3112delTG	c.(3109-3114)tctgtafs	p.S1037fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1037	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACGAGCTCTGTAGCTCTAGG	0.703			"""Mis, F, S"""		oligodendroglioma								11	46	---	---	---	---					
MYH7B	57644	broad.mit.edu	37	20	33583356	33583358	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:33583356_33583358delAGG	uc002xbi.2	+	27	3361_3363	c.3044_3046delAGG	c.(3043-3048)aaggag>aag	p.E1016del		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	974						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAAGCTGAGAAGGAGAAGCAAGC	0.645													19	29	---	---	---	---					
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:151303906_151303908delAGG	uc022cgz.1	-	0	185_187	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_In_Frame_Del_p.S62del|MAGEA10_uc004ffm.2_In_Frame_Del_p.S62del|MAGEA10_uc004ffl.3_In_Frame_Del_p.S62del	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													7	193	---	---	---	---					
