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
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	G	G			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													0	1	0	0	0	92	4
SCPEP1	59342	broad.mit.edu	37	17	55058499	55058499	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:55058499G>A	uc002iuv.4	+	1	186	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_5'UTR	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	45					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TTATGTGACGGTCCGCAAGGA	0.493													0	1	0	0	0	67	3
HCAR1	27198	broad.mit.edu	37	12	123214145	123214145	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr12:123214145G>A	uc001ucz.3	-	0	985	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	248					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GCACTCGAGGGCACCGTCCAG	0.537													0	1	0	0	0	76	4
FOXP3	50943	broad.mit.edu	37	X	49113414	49113414	+	Silent	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chrX:49113414G>A	uc004dnf.4	-	4	698	c.510C>T	c.(508-510)acC>acT	p.T170T	FOXP3_uc011mnb.2_Silent_p.T170T|FOXP3_uc011mnc.2_Silent_p.T170T|FOXP3_uc004dne.4_Silent_p.T135T|FOXP3_uc022bwa.1_Silent_p.T120T	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.	170					B cell homeostasis|T cell homeostasis|T cell receptor signaling pathway|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of CREB transcription factor activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of T cell anergy|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	DNA bending activity|NF-kappaB binding|NFAT protein binding|chromatin binding|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GATTTGGGAAGGTGCAGAGCA	0.652													0	1	0	0	0	91	3
SHMT1	6470	broad.mit.edu	37	17	18232139	18232139	+	Silent	SNP	C	T	T			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:18232139C>T	uc002gta.3	-	11	1567	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	SHMT1_uc002gsz.3_Silent_p.A234A|SHMT1_uc002gtb.3_Silent_p.A420A|SHMT1_uc010vxt.2_Silent_p.A321A	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	459					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCTGCACGGCCGCCTGGTACT	0.612													0	1	0	0	0	43	3
PHACTR1	221692	broad.mit.edu	37	6	13283734	13283734	+	Silent	SNP	C	T	T			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr6:13283734C>T	uc003nah.2	+	12	1963	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	PHACTR1_uc010jpc.3_Silent_p.D530D|TBC1D7_uc003naj.3_Intron|TBC1D7_uc011dis.2_Intron|LOC100130357_uc003nak.1_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	530						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGGTGGCTGACGCTCAGGACT	0.597													0	1	0	0	0	210	9
FXYD4	53828	broad.mit.edu	37	10	43869919	43869919	+	Splice_Site	SNP	C	G	G			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr10:43869919C>G	uc001jaq.1	+	4	370	c.38_splice	c.e4-1	p.G13_splice		NM_001184963	NP_001171892	P59646	FXYD4_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 4 (FXYD4), transcript variant 2, mRNA.	13						integral to membrane				NS(1)|large_intestine(1)|lung(3)	5						CCCACACAGGCCTGACTGCCT	0.587													0	1	0	0	0	164	95
LDB2	9079	broad.mit.edu	37	4	16900067	16900067	+	Silent	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:16900067G>A	uc003goz.3	-	0	358	c.42C>T	c.(40-42)ttC>ttT	p.F14F	LDB2_uc003gpa.3_Silent_p.F14F|LDB2_uc011bxh.2_Silent_p.F14F|LDB2_uc003gpb.3_Silent_p.F14F|LDB2_uc010iee.3_Silent_p.F14F	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	14							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAAATGGGCCGAAAGGAGAAG	0.458													0	1	0	0	0	79	3
ABI3BP	25890	broad.mit.edu	37	3	100473513	100473513	+	Missense_Mutation	SNP	T	G	G			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr3:100473513T>G	uc003dun.3	-	30	2825	c.2740A>C	c.(2740-2742)Aaa>Caa	p.K914Q	ABI3BP_uc003duj.3_Missense_Mutation_p.K494Q|ABI3BP_uc003duk.3_Missense_Mutation_p.K623Q|ABI3BP_uc003dul.3_Missense_Mutation_p.K744Q|ABI3BP_uc011bhd.2_Missense_Mutation_p.K868Q|ABI3BP_uc003dum.3_Missense_Mutation_p.K325Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	914	Fibronectin type-III 2.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGCGGGTTTTTGGGTTTCACC	0.413													0	1	0	0	0	11	2
TBC1D16	125058	broad.mit.edu	37	17	77926572	77926572	+	Silent	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:77926572G>A	uc002jxj.3	-	3	941	c.825C>T	c.(823-825)aaC>aaT	p.N275N	TBC1D16_uc002jxh.3_5'Flank|TBC1D16_uc002jxi.3_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	275						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCAGGAGGCCGTTGCTGTCCG	0.682													0	1	0	0	0	102	4
CHRNE	1145	broad.mit.edu	37	17	4805305	4805305	+	Missense_Mutation	SNP	G	A	A	rs121909512		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:4805305G>A	uc002fzk.1	-	4	433	c.422C>T	c.(421-423)cCg>cTg	p.P141L	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.	141			P -> L (in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh).		muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GTAGATGGCCGGAGGCAGCCA	0.617													0	1	0	0	0	102	3
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Missense_Mutation	SNP	T	C	C			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr3:113505224T>C	uc003eao.3	+	5	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_uc011bik.2_Missense_Mutation_p.L204P	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	237					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATGCCCTTTTTCCGTAA	0.423													0	1	0	0	0	255	4
TLL2	7093	broad.mit.edu	37	10	98188429	98188429	+	Silent	SNP	C	A	A	rs141217387		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr10:98188429C>A	uc001kml.2	-	4	838	c.597G>T	c.(595-597)acG>acT	p.T199T	TLL2_uc009xvf.2_Silent_p.T147T	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	199	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTTCCTCATCCGTCCTTTCTA	0.498													1	1	1	0	1	86	3
LAMA2	3908	broad.mit.edu	37	6	129649469	129649469	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr6:129649469G>A	uc021zfb.1	+	28	4328	c.4223G>A	c.(4222-4224)cGc>cAc	p.R1408H	LAMA2_uc003qbn.3_Missense_Mutation_p.R1408H|LAMA2_uc003qbo.3_Missense_Mutation_p.R1408H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1408	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1408H(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAGGTGGCCGCACCCCTGGA	0.502													0	1	0	0	0	131	5
B3GNT6	192134	broad.mit.edu	37	11	76751195	76751195	+	Silent	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr11:76751195G>A	uc021qnq.1	+	0	600	c.600G>A	c.(598-600)aaG>aaA	p.K200K	B3GNT6_uc021qnp.1_Silent_p.K200K			Q6ZMB0	B3GN6_HUMAN	SubName: Full=Uncharacterized protein;	200					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						TCACGCTCAAGCACCTGCACT	0.697													0	1	0	0	0	88	78
BRE	9577	broad.mit.edu	37	2	28152748	28152748	+	Missense_Mutation	SNP	A	T	T			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr2:28152748A>T	uc002rls.3	+	2	430	c.178A>T	c.(178-180)Ata>Tta	p.I60L	BRE_uc002rlp.1_Missense_Mutation_p.I60L|BRE_uc002rlq.3_Missense_Mutation_p.I60L|BRE_uc002rlr.3_Missense_Mutation_p.I60L|BRE_uc002rlt.3_Missense_Mutation_p.I60L|BRE_uc002rlu.3_Missense_Mutation_p.I60L|BRE_uc002rlv.3_5'UTR	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	60	UEV-like 1.				G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TAAACTGCACATACCATATGC	0.343													0	1	0	0	0	81	3
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				0	1	0	0	0	49	41
KIAA1211	57482	broad.mit.edu	37	4	57182522	57182522	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:57182522G>A	uc003hbk.2	+	7	3245	c.2854G>A	c.(2854-2856)Gca>Aca	p.A952T	KIAA1211_uc010iha.2_Missense_Mutation_p.A945T|KIAA1211_uc011bzz.1_Missense_Mutation_p.A862T|KIAA1211_uc003hbm.1_Missense_Mutation_p.A838T	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	952	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGACAAGGCAGCAAACAAAAT	0.632													0	1	0	0	0	63	3
ANGPT4	51378	broad.mit.edu	37	20	853717	853717	+	Silent	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr20:853717G>A	uc002wei.3	-	8	1501	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	ANGPT4_uc010zpn.2_3'UTR	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	466	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GAGCGTGGTAGTAGACGCCGT	0.612													0	1	0	0	0	66	3
GAS2L2	246176	broad.mit.edu	37	17	34074068	34074068	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:34074068G>A	uc002hjv.2	-	4	1080	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	351					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGGCCCCCGTCCCTGCTCC	0.612													0	1	0	0	0	96	10
BC019672	0	broad.mit.edu	37	17	20320065	20320065	+	RNA	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:20320065G>A	uc002gwx.3	+	0		c.644G>A								Homo sapiens, clone IMAGE:4938453, mRNA.																		GGAACTGGGAGGACTGCACTA	0.547													0	1	0	0	0	46	3
NAA11	84779	broad.mit.edu	37	4	80246702	80246702	+	Silent	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:80246702G>A	uc003hlt.4	-	0	470	c.330C>T	c.(328-330)caC>caT	p.H110H	NAA11_uc021xpl.1_Silent_p.H110H	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	110	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCTTCCTGACGTGCAGAGACA	0.522													0	1	0	0	0	46	17
ADAMDEC1	27299	broad.mit.edu	37	8	24254877	24254877	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr8:24254877G>A	uc003xdz.2	+	5	755	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	ADAMDEC1_uc010lub.2_Missense_Mutation_p.E100K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E100K	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	179					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TAACCAGGAGGAACAAGACCC	0.458													0	1	0	0	0	286	6
