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
PSG3	5671	broad.mit.edu	37	19	43382240	43382240	+	Silent	SNP	G	A	A	rs1058959		TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr19:43382240G>A	uc002ovd.1	-	1	393	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.D85D|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.D85D|PSG3_uc002ova.2_Silent_p.D85D|PSG3_uc002ouz.2_Silent_p.D85D|PSG3_uc002ovb.3_Silent_p.D85D	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	85	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.D85E(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTATTTCACCGTCTACTACAT	0.448000														438			18		0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738204	19738204	+	Missense_Mutation	SNP	G	C	C			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr7:19738204G>C	uc003sup.1	-	3	773	c.752C>G	c.(751-753)gCa>gGa	p.A251G		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	251	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AGTGTCATCTGCATCATCTGC	0.433000														224			10		0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119915192	119915192	+	Silent	SNP	G	A	A			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:119915192G>A	uc002tlo.2	-	0	1280	c.654C>T	c.(652-654)agC>agT	p.S218S		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	218	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CCGCCCACATGCTGGTGCCGT	0.642000										HNSCC(49;0.14)				28			10		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411839	23411839	+	Missense_Mutation	SNP	A	T	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chrX:23411839A>T	uc004dal.4	+	2	2212	c.2204A>T	c.(2203-2205)gAg>gTg	p.E735V		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	735					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.A735D(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GTGTCCGTGGAGTTTGGAGTG	0.413000														78			4		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116932301	116932301	+	Missense_Mutation	SNP	T	G	G			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr1:116932301T>G	uc001ege.3	+	7	1334	c.995T>G	c.(994-996)gTg>gGg	p.V332G	ATP1A1_uc010owv.1_Missense_Mutation_p.V301G|ATP1A1_uc010oww.2_Missense_Mutation_p.V332G|ATP1A1_uc010owx.2_Missense_Mutation_p.V301G	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	332					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GTAGCCAATGTGCCGGAAGGT	0.507000														26			12		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40836233	40836233	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr17:40836233C>T	uc002iay.3	+	2	565	c.349C>T	c.(349-351)Cga>Tga	p.R117*	CCR10_uc002iax.4_5'Flank|CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	117	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTCTACCAGCGAGGGCACAA	0.612000														134			17		0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470535	25470535	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:25470535C>T	uc002rgc.3	-	7	1196	c.939G>A	c.(937-939)tgG>tgA	p.W313*	DNMT3A_uc002rgd.3_Nonsense_Mutation_p.W313*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.W124*	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	313	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.S312F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTCATCCACCAAGACACAA	0.637000			"""Mis, F, N, S"""		AML									68			7		0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26457150	26457150	+	Missense_Mutation	SNP	G	T	T	rs75929560		TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:26457150G>T	uc002rgy.3	-	4	518	c.388C>A	c.(388-390)Ctt>Att	p.L130I	HADHA_uc010yks.2_Missense_Mutation_p.L43I|HADHA_uc010ykt.1_Missense_Mutation_p.L43I	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	130					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GACTTTTCAAGTTTCTCAACT	0.423000														79			5		2.0095e-06	2.0095e-06	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11098687	11098687	+	Splice_Site	SNP	C	T	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr5:11098687C>T	uc003jfa.1	-	15	2782	c.2637_splice	c.e15+1	p.K879_splice	CTNND2_uc010itt.2_Splice_Site_p.K788_splice|CTNND2_uc011cmy.1_Splice_Site_p.K542_splice|CTNND2_uc011cmz.1_Splice_Site_p.K446_splice|CTNND2_uc010itu.1_Splice_Site|CTNND2_uc011cmx.1_Splice_Site_p.K446_splice	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	879					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGGCCATACCTTCCAGCTCC	0.463000														62			4		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80508237	80508237	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr5:80508237G>A	uc003kha.2	+	22	3259	c.3209G>A	c.(3208-3210)cGt>cAt	p.R1070H	RNU5E-1_uc011cto.1_Intron|RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	1070	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GTCAGCTCCCGTGCCAACGCC	0.542000														34			11		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107417689	107417689	+	Missense_Mutation	SNP	G	C	C			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chrX:107417689G>C	uc004enw.4	-	30	3225	c.3122C>G	c.(3121-3123)cCa>cGa	p.P1041R	COL4A6_uc004env.4_Missense_Mutation_p.P1040R|COL4A6_uc011msn.2_Missense_Mutation_p.P1040R|COL4A6_uc010npk.3_Missense_Mutation_p.P1040R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1041	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGGCATTCCTGGGAAACCTGT	0.547000									Alport syndrome with Diffuse Leiomyomatosis					85			11		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964970	42964970	+	Missense_Mutation	SNP	T	C	C			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr4:42964970T>C	uc003gwt.3	+	1	447	c.446T>C	c.(445-447)gTc>gCc	p.V149A		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	149	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTTCGTGTGGTCCGGACAACC	0.388000														80			4		0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56139949	56139949	+	Silent	SNP	A	G	G			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr14:56139949A>G	uc001xcb.3	+	40	4049	c.3747A>G	c.(3745-3747)gtA>gtG	p.V1249V	KTN1_uc001xcc.3_Silent_p.V1249V|KTN1_uc001xcd.3_Intron|KTN1_uc001xce.3_Intron|KTN1_uc010trb.2_Intron|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.3_Intron|KTN1_uc010trc.2_Intron|KTN1_uc001xcg.3_Intron	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	1249					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CTGAAGCAGTAAGACAGAATG	0.373000			T	RET	papillary thryoid									17			3		0	0	1	0	0
