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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TTN	7273	broad.mit.edu	37	2	179425173	179425173	+	Silent	SNP	C	A	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr2:179425173C>A	uc021vsy.1	-	274	78207	c.77982G>T	c.(77980-77982)gtG>gtT	p.V25994V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V19689V|TTN_uc021vta.1_Silent_p.V19622V|TTN_uc021vtb.1_Silent_p.V19497V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26921	Fibronectin type-III 89.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R25993K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCTTTGGTCACAGAAGTAA	0.408000														28			8		0.0381472	0.0381472	1	1	0
ABI3BP	25890	broad.mit.edu	37	3	100621501	100621501	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr3:100621501G>A	uc003dun.3	-	2	395	c.310C>T	c.(310-312)Cga>Tga	p.R104*	ABI3BP_uc003duo.2_Nonsense_Mutation_p.R97*|ABI3BP_uc003dup.4_Nonsense_Mutation_p.R97*	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	104						extracellular space		p.R104*(3)		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						GGAGCAGGTCGCACAACTATC	0.408000														21			10		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119124969	119124969	+	Silent	SNP	C	T	T	rs144490263		TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr9:119124969C>T	uc004bjn.3	+	17	4827	c.4446C>T	c.(4444-4446)aaC>aaT	p.N1482N	PAPPA_uc011lxq.2_Silent_p.N857N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1482	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CGGTTCCAAACGAGCTCAACA	0.557000														31			18		0	0	1	0	0
BC039483	0	broad.mit.edu	37	GL000219.1	45438	45438	+	RNA	SNP	G	A	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chrGL000219.1:45438G>A	uc011mfo.2	+	0		c.42G>A								Homo sapiens, clone IMAGE:5538248, mRNA.																		TCCTGGCTGAGGAGTGGTTCC	0.607000														0			3		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235473	21235473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr2:21235473C>T	uc002red.3	-	25	4395	c.4267G>A	c.(4267-4269)Gat>Aat	p.D1423N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1423					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)	AGAGACCCATCATATGATAGT	0.338000														23			12		0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249545	71249545	+	Silent	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr11:71249545C>T	uc001oqr.1	+	0	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	148	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607000														252			6		0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61077377	61077377	+	Silent	SNP	G	A	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr11:61077377G>A	uc001nrc.4	-	19	2683	c.2457C>T	c.(2455-2457)tgC>tgT	p.C819C	DDB1_uc010rle.1_Silent_p.C130C|DDB1_uc010rlf.1_Silent_p.C819C	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	819	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGCCCAGCTTGCAGGAAACCA	0.498000								Nucleotide excision repair (NER)						52			29		0	0	1	0	0
IL29	282618	broad.mit.edu	37	19	39789131	39789131	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr19:39789131C>T	uc002okv.3	+	4	675	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	193					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTCTGAGAACGTCAACCCAC	0.527000														157			24		0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042978	31042978	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr22:31042978G>A	uc003ais.1	+	1	1658	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	SLC35E4_uc003ait.3_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	338						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTGCCCGTCGGGGGCTGTGG	0.637000														26			14		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	121115981	121115981	+	Silent	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr1:121115981C>T	uc001eis.2	+	1	215	c.147C>T	c.(145-147)aaC>aaT	p.N49N		NM_001042758	NP_001036223	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 2, mRNA.	212	FCH.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CCACGGCCAACGTTCGCATTG	0.527000														9			3		0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27382105	27382105	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr17:27382105G>T	uc002hdr.1	+	5	1158	c.832G>T	c.(832-834)Gca>Tca	p.A278S		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	278					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CGGCAACCACGCAGACCCTGA	0.602000														37			26		4.59853e-10	4.89843e-10	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr9:77354692G>A	uc004ajl.1	-	33	5672	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_uc004ajk.1_Missense_Mutation_p.R1807W|TRPM6_uc022bib.1_Missense_Mutation_p.R1807W|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R763W|TRPM6_uc010mpd.1_Missense_Mutation_p.R645W|TRPM6_uc010mpe.1_Missense_Mutation_p.R359W|TRPM6_uc004ajj.1_Missense_Mutation_p.R768W	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1812	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488000														129			4		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99012610	99012610	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr2:99012610A>G	uc010fij.3	+	7	1130	c.989A>G	c.(988-990)aAg>aGg	p.K330R	CNGA3_uc002syt.3_Missense_Mutation_p.K326R|CNGA3_uc002syu.3_Missense_Mutation_p.K308R			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	326					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCCATTTCCAAGTTCATTGGT	0.473000														22			32		0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128127069	128127069	+	Silent	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr3:128127069C>T	uc003eki.3	+	6	1796	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	586						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GTTATGTCTTCGACACCCACA	0.647000														32			38		0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542168	21542168	+	Silent	SNP	A	G	G			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr14:21542168A>G	uc001vzp.3	+	2	308	c.279A>G	c.(277-279)gcA>gcG	p.A93A	ARHGEF40_uc001vzn.1_Silent_p.A93A|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	93					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGCTAGCAGCCCTACCCT	0.622000														42			19		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76940739	76940739	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr7:76940739T>C	uc003ugf.3	-	30	2580	c.2501A>G	c.(2500-2502)aAt>aGt	p.N834S	PION_uc011kgo.2_Missense_Mutation_p.N155S|PION_uc003ugd.3_Missense_Mutation_p.N228S	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	834					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCATCCACATTGTCATGTCC	0.438000														53			5		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62935845	62935845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr4:62935845C>T	uc010ihh.3	+	22	3802	c.3629C>T	c.(3628-3630)gCc>gTc	p.A1210V	LPHN3_uc003hcq.4_Silent_p.C1227C|LPHN3_uc003hct.3_Missense_Mutation_p.A594V	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1188					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTGAACAATGCCAGGGATACA	0.418000														30			21		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719277	155719277	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr4:155719277G>T	uc003ioo.3	+	2	639	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	RBM46_uc011cim.1_Nonsense_Mutation_p.E156*|RBM46_uc003iop.1_Nonsense_Mutation_p.E156*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	156	RRM 2.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAGAAAGAAGAAATTTTAGA	0.333000														23			23		2.39556e-15	2.6085e-15	1	1	0
CACNG8	59283	broad.mit.edu	37	19	54485495	54485495	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr19:54485495G>A	uc002qcs.2	+	3	777	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	CACNG8_uc021vbd.1_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	224					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGTGCTGGCCGTCAACATCTA	0.672000														17			8		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131982849	131982849	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr7:131982849C>T	uc003vra.4	-	4	1732	c.1503_splice	c.e4+1	p.Q501_splice		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	501	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGAGCCTTACCTGCCTCTCT	0.547000														75			67		0	0	1	0	0
FLJ00285	0	broad.mit.edu	37	16	15221419	15221419	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr16:15221419C>T	uc002ddh.2	-	7	1788	c.1396G>A	c.(1396-1398)Gtc>Atc	p.V466I	PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript|FLJ00285_uc002ddi.3_Missense_Mutation_p.V242I|FLJ00285_uc010uzt.2_Missense_Mutation_p.V466I					RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285;																		ACTGTGTCGACGCTCAGCGGG	0.637000														2			3		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70404869	70404869	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr10:70404869A>G	uc001jok.4	+	3	2888	c.2383A>G	c.(2383-2385)Aaa>Gaa	p.K795E		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	795					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TAAATTCCTAAAAGACACTGC	0.348000														21			22		0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44455134	44455134	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr13:44455134G>T	uc010acg.3	+	1	498	c.13G>T	c.(13-15)Gtt>Ttt	p.V5F	CCDC122_uc010acf.3_5'Flank|LACC1_uc001uzf.4_Missense_Mutation_p.V5F	NM_001128303	NP_694950	Q8IV20	CM031_HUMAN	Homo sapiens laccase (multicopper oxidoreductase) domain containing 1 (LACC1), transcript variant 1, mRNA.	5																	GGCAGAAGCTGTTTTGATTGA	0.313000														18			10		4.68919e-08	4.88873e-08	1	1	0
LGI3	203190	broad.mit.edu	37	8	22011545	22011545	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr8:22011545C>T	uc003xav.3	-	4	719	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	LGI3_uc010ltu.3_Missense_Mutation_p.A120T	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	144					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TTATTGTTGGCCAGCGAGCTG	0.557000														38			3		0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145747957	145747957	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr8:145747957C>T	uc003zdm.3	-	4	1576	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	482						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCGGACCCTCGGCGAAGAGC	0.711000														13			6		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	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	0.368000	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					64			54		0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34255814	34255814	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr9:34255814G>C	uc003zua.4	-	10	3911	c.3791C>G	c.(3790-3792)gCa>gGa	p.A1264G	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	1264					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ACTTGGCCTTGCTAAGCACCT	0.557000											OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			7		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242154251	242154251	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr2:242154251C>T	uc002wax.2	+	17	2025	c.1922C>T	c.(1921-1923)gCa>gTa	p.A641V		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	641						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ATCGAGCTGGCACAGGAGCTC	0.627000														22			16		0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92164086	92164086	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr7:92164086A>T	uc003uma.3	+	3	860	c.819A>T	c.(817-819)agA>agT	p.R273S	RBM48_uc003ulz.3_Missense_Mutation_p.R273S			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	273							nucleotide binding										CAGTTGACAGATTTATGCCTA	0.423000														29			29		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654766	247654766	+	Missense_Mutation	SNP	G	A	A	rs145704231		TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr1:247654766G>A	uc001icz.2	+	0	397	c.337G>A	c.(337-339)Gtc>Atc	p.V113I		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CACCGAGTGCGTCCTCCTGGT	0.602000														54			18		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7728540	7728540	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr4:7728540C>T	uc003gkb.4	+	20	2779	c.2779C>T	c.(2779-2781)Cgg>Tgg	p.R927W	SORCS2_uc011bwi.2_Missense_Mutation_p.R755W	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	927						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGACAACGCGGTTTTCGGA	0.657000														113			24		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12799806	12799806	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr17:12799806G>A	uc002gnr.4	+	2	503	c.176G>A	c.(175-177)gGg>gAg	p.G59E	ARHGAP44_uc010vvk.2_Missense_Mutation_p.G59E|ARHGAP44_uc010vvl.2_Missense_Mutation_p.G59E|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Missense_Mutation_p.G59E|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	59	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G59E(2)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GGCCAGCAAGGGGCAGAGGCT	0.597000														4			3		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73467615	73467615	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr7:73467615G>T	uc003tzw.3	+	17	1163	c.1072G>T	c.(1072-1074)Ggg>Tgg	p.G358W	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Missense_Mutation_p.G358W|ELN_uc003tzy.3_Missense_Mutation_p.G353W|ELN_uc003tzz.3_Missense_Mutation_p.G322W|ELN_uc003tzo.3_Missense_Mutation_p.G344W|ELN_uc003tzp.3_Missense_Mutation_p.G314W|ELN_uc003tzq.3_Missense_Mutation_p.G241W|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G358W|ELN_uc003tzt.3_Missense_Mutation_p.G363W|ELN_uc003tzu.3_Missense_Mutation_p.G363W|ELN_uc003tzv.3_Missense_Mutation_p.G348W|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G348W|ELN_uc011kff.2_Missense_Mutation_p.G358W	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	358	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCCAGGTGCTGGGATCCCAGG	0.567000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							35			38		1.57019e-19	1.74862e-19	1	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	G	G	rs141732548	by1000genomes	TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000														31			4		0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														41			6		0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	T	T			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr15:23205108C>T	uc001yvg.3	-	1		c.687G>A			WHAMMP3_uc010ayc.3_Non-coding_Transcript|WHAMMP3_uc010ayd.3_Non-coding_Transcript|WHAMMP3_uc010aye.1_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 (WHAMMP3), non-coding RNA.																		GTGGTTGCCACGGTAACTAAT	0.393000														29			3		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														21			3		0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	A	A			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr15:23205094G>A	uc001yvg.3	-	1		c.701C>T			WHAMMP3_uc010ayc.3_Non-coding_Transcript|WHAMMP3_uc010ayd.3_Non-coding_Transcript|WHAMMP3_uc010aye.1_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 (WHAMMP3), non-coding RNA.																		AGTACTGGAAGAACGTGGTTG	0.373000														24			3		0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140109296	140109296	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr9:140109296C>G	uc004clx.3	+	7	1002	c.891C>G	c.(889-891)caC>caG	p.H297Q	NDOR1_uc004clw.3_Missense_Mutation_p.H297Q|NDOR1_uc011mes.2_Missense_Mutation_p.H297Q|NDOR1_uc004cly.3_Missense_Mutation_p.H263Q	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	297	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCATGCGGCACCTCGTGTCCC	0.682000														34			38		0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42147001	42147001	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr6:42147001delT	uc003orx.3	+	5	1111	c.466delT	c.(466-468)tttfs	p.F156fs	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Frame_Shift_Del_p.F156fs	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	156	EF-hand 4.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTGGAAGAGTTTATAGAGGG	0.572													---	92	---	---	13	---					
KCNB2	9312	broad.mit.edu	37	8	73850042	73850054	+	Frame_Shift_Del	DEL	CTCCCAGGGGCAA	-	-			TCGA-D3-A5GT-01A-12D-A30X-08	TCGA-D3-A5GT-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9845461c-1119-4c8e-9ff7-c65552c47f03	ec81fcdb-e6ad-4c4c-8490-d23afebb8cb8	g.chr8:73850042_73850054delCTCCCAGGGGCAA	uc003xzb.3	+	2	3040_3052	c.2452_2464delCTCCCAGGGGCAA	c.(2452-2466)ctcccaggggcaaggfs	p.L818fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	818					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.P819S(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTTCTTAGAGCTCCCAGGGGCAAGGGAGGAGAA	0.521													---	91	---	---	11	---					
