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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
COL6A6	131873	broad.mit.edu	37	3	130282318	130282318	+	Silent	SNP	C	T	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr3:130282318C>T	uc010htl.3	+	1	502	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	157	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen		p.D157D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCGGAAAGACGGAGTGAAAA	0.493													0	1	0	0	0	39	4
NDST4	64579	broad.mit.edu	37	4	115998001	115998001	+	Silent	SNP	C	T	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr4:115998001C>T	uc003ibu.3	-	1	871	c.192G>A	c.(190-192)gaG>gaA	p.E64E	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	64	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.E64K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTGTTTTCAGCTCCATTGACC	0.408													0	1	0	0	0	69	7
IRS2	8660	broad.mit.edu	37	13	110438060	110438060	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr13:110438060G>A	uc001vqv.3	-	0	855	c.341C>T	c.(340-342)gCc>gTc	p.A114V		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	114	PH.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTGTAGAGGGCGATCAGGTA	0.657													0	1	0	0	0	9	7
SLC9A3R1	9368	broad.mit.edu	37	17	72759553	72759553	+	Silent	SNP	C	A	A			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr17:72759553C>A	uc002jlo.3	+	2	874	c.651C>A	c.(649-651)tcC>tcA	p.S217S	SLC9A3R1_uc002jln.1_Non-coding_Transcript	NM_004252	NP_004243	O14745	NHRF1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.	217	PDZ 2.				Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association			large_intestine(4)	4						ACGTGGTGTCCGCCATCAGGG	0.622													1.13E-05	1	1.13E-05	0	1	14	7
GCN1L1	10985	broad.mit.edu	37	12	120582584	120582584	+	Silent	SNP	T	C	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr12:120582584T>C	uc001txo.3	-	40	5224	c.5211A>G	c.(5209-5211)ccA>ccG	p.P1737P		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1737					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCACGATTTCTGGCATCAACT	0.517													0	1	0	0	0	103	58
B4GALNT3	283358	broad.mit.edu	37	12	667249	667249	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr12:667249G>A	uc001qii.1	+	16	2602	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M	B4GALNT3_uc001qik.1_Missense_Mutation_p.V417M	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	868						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)			CATAGACCTCGTGAAGGTAAA	0.547													0	1	0	0	0	49	4
PDE4DIP	9659	broad.mit.edu	37	1	144906087	144906087	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:144906087T>C	uc021ouh.1	-	18	2848	c.2546A>G	c.(2545-2547)cAa>cGa	p.Q849R	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q849R|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q915R|PDE4DIP_uc001emd.2_Missense_Mutation_p.Q849R|PDE4DIP_uc001emc.2_Missense_Mutation_p.Q849R|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q1012R|PDE4DIP_uc001eme.1_Intron	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	849					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAAATTTCTTGACCCTGGGA	0.353			T	PDGFRB	MPD								0	1	0	0	0	98	10
ECSIT	51295	broad.mit.edu	37	19	11618516	11618516	+	Splice_Site	SNP	C	T	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr19:11618516C>T	uc002msb.3	-	6	1079	c.945_splice	c.e6+1	p.R315_splice	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Splice_Site_p.G275_splice|ECSIT_uc010dyd.3_Intron|ECSIT_uc010xma.2_Splice_Site_p.R101_splice	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	315					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TAAGCCCTCACCCTCTCCTCC	0.612													0	1	0	0	0	42	22
ALG13	79868	broad.mit.edu	37	X	110951558	110951558	+	Silent	SNP	A	G	G			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chrX:110951558A>G	uc011msy.2	+	3	788	c.687A>G	c.(685-687)ttA>ttG	p.L229L	ALG13_uc011msw.2_Silent_p.L151L|ALG13_uc011msx.2_Silent_p.L125L|ALG13_uc011msz.2_Silent_p.L151L|ALG13_uc011mta.2_Silent_p.L125L|ALG13_uc011mtb.2_Silent_p.L125L	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	229					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						TAGGCAGCTTAGGGCTGTTTC	0.453													0	1	0	0	0	56	9
SEC14L2	23541	broad.mit.edu	37	22	30812008	30812008	+	Silent	SNP	C	T	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr22:30812008C>T	uc003ahr.3	+	9	1019	c.843C>T	c.(841-843)agC>agT	p.S281S	SEC14L2_uc003ahq.3_Silent_p.S281S|SEC14L2_uc011aky.2_Silent_p.S198S|SEC14L2_uc011akx.2_Silent_p.S227S|SEC14L2_uc003ahs.3_Silent_p.S207S|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc003ahu.3_Splice_Site_p.S105_splice|SEC14L2_uc010gvv.3_Non-coding_Transcript|SEC14L2_uc003ahv.1_Silent_p.S105S|SEC14L2_uc010gvx.1_Intron|SEC14L2_uc010gvy.1_Intron	NM_012429	NP_036561	O76054	S14L2_HUMAN	Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA.	281	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	p.H280N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	ATGAACACAGCGTGCAGATTT	0.557													0	1	0	0	0	53	21
DOCK7	85440	broad.mit.edu	37	1	63042965	63042965	+	Missense_Mutation	SNP	G	C	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:63042965G>C	uc001daq.3	-	17	2114	c.2080C>G	c.(2080-2082)Cca>Gca	p.P694A	DOCK7_uc001dan.3_Missense_Mutation_p.P586A|DOCK7_uc001dao.3_Missense_Mutation_p.P586A|DOCK7_uc001dap.3_Missense_Mutation_p.P694A	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	694	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCTGTGGTGGTTTTTCCAAT	0.373													0	1	0	0	0	36	15
GPR139	124274	broad.mit.edu	37	16	20084907	20084907	+	Missense_Mutation	SNP	T	A	A			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr16:20084907T>A	uc002dgu.1	-	0	194	c.32A>T	c.(31-33)aAc>aTc	p.N11I	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	11						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGCGAGCTGTTGGCTGCGAG	0.697													0	1	0	0	0	11	5
NCOR1	9611	broad.mit.edu	37	17	15995328	15995328	+	Silent	SNP	G	A	A			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr17:15995328G>A	uc002gpo.3	-	21	3134	c.2865C>T	c.(2863-2865)agC>agT	p.S955S	NCOR1_uc002gpn.3_Silent_p.S971S|NCOR1_uc002gpp.1_Silent_p.S862S|NCOR1_uc002gpq.1_5'UTR|NCOR1_uc002gpr.3_Silent_p.S862S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	955					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGCATAGCCGCTCACTGGGG	0.433													0	1	0	0	0	86	7
S100A7	6278	broad.mit.edu	37	1	153430333	153430333	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:153430333G>T	uc001fbv.1	-	2	326	c.255C>A	c.(253-255)gaC>gaA	p.D85E		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	85	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding	p.D85G(1)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTGTGGTAGTCTGTGGCTA	0.512													7.11E-11	1	6.85E-11	0	1	55	33
TMEM145	284339	broad.mit.edu	37	19	42821993	42821993	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr19:42821993C>T	uc002otk.1	+	11	1085	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	345						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCCTGAGAAGCAGCCTTTTTA	0.597													0	1	0	0	0	70	6
IRF5	3663	broad.mit.edu	37	7	128588791	128588791	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr7:128588791G>T	uc003voh.3	+	8	1537	c.1416G>T	c.(1414-1416)caG>caT	p.Q472H	IRF5_uc003vog.3_Missense_Mutation_p.Q488H|IRF5_uc010llt.3_Missense_Mutation_p.Q386H|IRF5_uc003voi.3_Missense_Mutation_p.Q472H|IRF5_uc003voj.4_Missense_Mutation_p.Q472H	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	472					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCGGTTGCAGCCTGTGGCCC	0.597													1.47E-19	1	1.36E-19	0	1	72	39
GABRA2	2555	broad.mit.edu	37	4	46314729	46314729	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr4:46314729T>C	uc011bzc.1	-	3	507	c.95A>G	c.(94-96)tAt>tGt	p.Y32C	GABRA2_uc003gxc.3_Missense_Mutation_p.Y87C|GABRA2_uc010igc.2_Missense_Mutation_p.Y87C|GABRA2_uc003gxe.3_Missense_Mutation_p.Y87C			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	87					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.Q31K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCAATTGTATATTCCTGAAA	0.249													0	1	0	0	0	24	5
MAGED1	9500	broad.mit.edu	37	X	51637442	51637442	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chrX:51637442delC	uc004dpn.3	+	1	232	c.42delC	c.(40-42)ttcfs	p.F14fs	MAGED1_uc004dpm.3_Frame_Shift_Del_p.F14fs|MAGED1_uc004dpo.3_Frame_Shift_Del_p.F14fs|MAGED1_uc011mnx.1_Frame_Shift_Del_p.F14fs	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	0					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCCTCGGCTTCCAGGTGAGAT	0.657										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)						4	2
