Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NAPSA	9476	broad.mit.edu	37	19	50868849	50868849	+	Silent	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr19:50868849C>T	ENST00000253719.2	-	1	238	c.30G>A	c.(28-30)ctG>ctA	p.L10L	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	10					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		gcagcagcagcaggggttgca	0.602000													3	16					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40996957	40996957	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:40996957C>T	ENST00000253799.3	+	1	341	c.314C>T	c.(313-315)gCc>gTc	p.A105V	AOC2_ENST00000452774.2_Missense_Mutation_p.A105V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	105					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AAGGCTGCAGCCCTGGCCCAC	0.682000													18	52					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65311267	65311267	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:65311267T>A	ENST00000342505.4	-	15	2292	c.2044A>T	c.(2044-2046)Aaa>Taa	p.K682*	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	682	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ACATCGCTTTTCCGGTGCATG	0.488000			Mis		ALL								9	166					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	86					0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19584867	19584867	+	Silent	SNP	G	G	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:19584867G>T	ENST00000350657.5	-	15	1497	c.1323C>A	c.(1321-1323)gtC>gtA	p.V441V	SLC47A2_ENST00000325411.5_Silent_p.V463V|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	463						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					TTCTCATTCTGACCACAAAGG	0.537000													13	22					4.3838e-07	4.60861e-07	1	1	0
ANK3	288	broad.mit.edu	37	10	61835916	61835916	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr10:61835916G>A	ENST00000280772.1	-	37	4914	c.4723C>T	c.(4723-4725)Cgg>Tgg	p.R1575W	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1575	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACATTGTCCGAAAGGATCTA	0.458000													4	185					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604793	58604793	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr14:58604793G>C	ENST00000267485.7	-	2	1478	c.1284C>G	c.(1282-1284)aaC>aaG	p.N428K	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	428						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ACAGGGCATCGTTTTCCTTGG	0.413000													12	81					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146494	5146494	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr5:5146494G>C	ENST00000274181.7	+	3	565	c.427G>C	c.(427-429)Gac>Cac	p.D143H	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.D143H|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	143					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D143N(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCGCCAGAGGACTTCTGTTT	0.527000													35	108					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51013194	51013194	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr18:51013194C>T	ENST00000442544.2	+	26	4380	c.3764C>T	c.(3763-3765)aCg>aTg	p.T1255M	DCC_ENST00000581580.1_Missense_Mutation_p.T890M|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1255					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGGTGCCAACGCTAGAAAGT	0.512000													12	53					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61256912	61256912	+	Missense_Mutation	SNP	C	C	T	rs61733412	byFrequency	TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr18:61256912C>T	ENST00000344731.5	+	3	290	c.188C>T	c.(187-189)aCg>aTg	p.T63M	SERPINB13_ENST00000269489.5_Missense_Mutation_p.T63M	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	63					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GAAAAAGAGACGAAGAGCTCA	0.418000													3	16					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36995755	36995755	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr6:36995755T>G	ENST00000274963.8	+	16	1955	c.1784T>G	c.(1783-1785)cTg>cGg	p.L595R		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	595	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATCCCCCTGCTGGGCTACCAG	0.637000													11	33					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	398917	398917	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr6:398917G>A	ENST00000380956.4	+	6	853	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	243					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E243K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGGTCTGCCGAAGCCTTGGC	0.592000			T	IGH@	MM								6	25					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17851748	17851748	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr2:17851748G>A	ENST00000448223.2	-	26	3274	c.3005C>T	c.(3004-3006)tCc>tTc	p.S1002F	SMC6_ENST00000351948.4_Missense_Mutation_p.S1002F|SMC6_ENST00000402989.1_Missense_Mutation_p.S1002F|SMC6_ENST00000381272.4_Missense_Mutation_p.S1028F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1002	Ala/Asp-rich (DA-box).				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGACCACAGGGAAAGAATAAA	0.383000													10	36					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20386194	20386194	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr16:20386194C>T	ENST00000302451.4	-	5	879	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	211					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CGCCCAATGACATTGCCAATC	0.433000													33	52					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98574218	98574218	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr7:98574218C>T	ENST00000359863.4	+	54	8260	c.8051C>T	c.(8050-8052)cCg>cTg	p.P2684L	TRRAP_ENST00000355540.3_Missense_Mutation_p.P2666L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2666L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2684					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTGCGTGCCGCCAATCCCC	0.592000													11	39					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421711	50421711	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:50421711C>A	ENST00000435965.1	-	6	741	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	CACNA2D2_ENST00000479441.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D121Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D190Y			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	190					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCGATGAAGTCCAGCCTTAGG	0.537000													62	203					1.02016e-41	1.10069e-41	1	1	0
ELOVL6	79071	broad.mit.edu	37	4	111119469	111119469	+	Nonsense_Mutation	SNP	A	A	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr4:111119469A>T	ENST00000394607.3	-	2	186	c.23T>A	c.(22-24)tTa>tAa	p.L8*	ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.L8*|ELOVL6_ENST00000506461.1_5'UTR			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	8					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ATATTCTTGTAAAGTCAACAC	0.423000													33	87					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157154853	157154853	+	Splice_Site	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:157154853G>A	ENST00000295927.3	+	1	275		c.e1+1		VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long						inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTGAGGACCGTAAGTTCACT	0.423000													37	62					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175362981	175362981	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:175362981C>T	ENST00000367674.1	-	6	1999	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	TNR_ENST00000263525.2_Missense_Mutation_p.V431M	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	431	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGCACCTCCACGGTGGTCTCT	0.488000													43	60					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	85					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103412512	103412512	+	Splice_Site	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:103412512C>T	ENST00000358392.2	-	42	3522	c.3204_splice	c.e42-1	p.G1069_splice	COL11A1_ENST00000370096.3_Splice_Site_p.G1057_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G941_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1018_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1057	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGTGAGCCCTAGTATACA	0.448000													7	13					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281336	54281336	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr5:54281336C>T	ENST00000381405.4	-	1	155	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ESM1_ENST00000381403.4_Missense_Mutation_p.V4I|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	4					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGCAGCAAGACGCTCTTCATG	0.597000													7	21					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:7577141C>A	ENST00000420246.2	-	8	929	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTGTTCCGTCCCAGTAGATT	0.517000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			3	8					0.115264	0.115264	1	1	0
CDHR1	92211	broad.mit.edu	37	10	85965592	85965592	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr10:85965592G>A	ENST00000372117.3	+	10	975	c.872G>A	c.(871-873)gGa>gAa	p.G291E	CDHR1_ENST00000440770.2_Missense_Mutation_p.G50E|CDHR1_ENST00000332904.3_Missense_Mutation_p.G291E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	291	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGGAACGATGGAGCCTTTGAA	0.572000											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	22					0	0	1	0	0
TBXA2R	0	broad.mit.edu	37	19	3600433	3600433	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr19:3600433A>T	ENST00000375190.4	-	2	593	c.200T>A	c.(199-201)cTc>cAc	p.L67H	TBXA2R_ENST00000589966.1_Missense_Mutation_p.L67H|TBXA2R_ENST00000411851.3_Missense_Mutation_p.L67H	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	67					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GAGGCCGCAGAGGAAGGTGAG	0.701000													8	21					0	0	1	0	0
DLX3	1747	broad.mit.edu	37	17	48072109	48072109	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:48072109T>G	ENST00000434704.2	-	1	479	c.254A>C	c.(253-255)gAa>gCa	p.E85A		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GTAGGTATATTCCGACTTGGG	0.637000													11	38					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185997730	185997730	+	Silent	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:185997730G>A	ENST00000265022.3	-	9	1241	c.702C>T	c.(700-702)taC>taT	p.Y234Y	DGKG_ENST00000382164.4_Silent_p.Y234Y|DGKG_ENST00000344484.4_Silent_p.Y234Y|DGKG_ENST00000544847.1_Silent_p.Y234Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	234	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGTCCCGGTCGTAGTCCATCC	0.507000													5	125					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	35					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572595	101572595	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:101572595A>C	ENST00000326172.5	+	5	1340	c.1225A>C	c.(1225-1227)Aac>Cac	p.N409H	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N309H|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N287H	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	409	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AAATCCAATGAACACCACACA	0.483000													22	36					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11660241	11660241	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr19:11660241C>T	ENST00000592923.1	+	7	1032	c.455C>T	c.(454-456)gCg>gTg	p.A152V	CNN1_ENST00000544952.1_Missense_Mutation_p.A182V|CNN1_ENST00000535659.2_Missense_Mutation_p.A152V|CNN1_ENST00000252456.2_Missense_Mutation_p.A202V			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	202					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	p.A202V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CTGGACCAGGCGACCATCAGC	0.682000													7	25					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140459546	140459546	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr9:140459546G>C	ENST00000277540.2	-	6	858	c.701C>G	c.(700-702)aCc>aGc	p.T234S	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		CCTTTTGCTGGTGAAGAGAAA	0.612000													9	19					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204092884	204092884	+	Missense_Mutation	SNP	C	C	G	rs61825749		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:204092884C>G	ENST00000367204.1	+	12	1436	c.1327C>G	c.(1327-1329)Ctg>Gtg	p.L443V		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	443					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGGAAGATCCTGCAAGCCTT	0.602000											OREG0014126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452646	43452647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr2:43452646_43452647insC	ENST00000282388.3	-	2	589_590	c.296_297insG	c.(295-297)gacfs	p.D99fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	99					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCTTAAGGGTGCCGTAGGAGGT	0.718													5	10	---	---	---	---					
PHF2	5253	broad.mit.edu	37	9	96439004	96439005	+	In_Frame_Ins	INS	-	-	CCTGCCTCCACCACA	rs75653373	by1000genomes	TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr9:96439004_96439005insCCTGCCTCCACCACA	ENST00000359246.4	+	21	3328_3329	c.2961_2962insCCTGCCTCCACCACA	c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc	p.987_988TG>TLPPPHG	PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	987	Ser/Thr-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.T987_P988insPASTT(1)|p.T987T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		cctctaccaccccggcctccac	0.688													3	2	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89403730	89403731	+	RNA	INS	-	-	AAAC			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr11:89403730_89403731insAAAC	ENST00000532352.1	+	0	994							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aaagtgaaTCAaaacaaacaaa	0.347													5	8	---	---	---	---					
ACTN1	87	broad.mit.edu	37	14	69343829	69343833	+	Frame_Shift_Del	DEL	CATGA	CATGA	-			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr14:69343829_69343833delCATGA	ENST00000193403.6	-	20	2869_2873	c.2486_2490delTCATG	c.(2485-2490)gfs	p.VM829fs	ACTN1_ENST00000438964.2_Frame_Shift_Del_p.VM824fs|ACTN1_ENST00000376839.3_Frame_Shift_Del_p.VM759fs|ACTN1_ENST00000538545.2_Frame_Shift_Del_p.VM824fs|ACTN1_ENST00000394419.4_Frame_Shift_Del_p.VM851fs	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	829					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGAAGGAAGCCATGACTTGGTCTGC	0.576													13	19	---	---	---	---					
RP11-53I6.2	0	broad.mit.edu	37	18	29656287	29656288	+	RNA	INS	-	-	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr18:29656287_29656288insT	ENST00000583184.1	+	0	539																											ttgtttttttgttttttttttg	0.441													2	4	---	---	---	---					
RP11-258C19.5	0	broad.mit.edu	37	X	53142506	53142507	+	RNA	INS	-	-	A	rs146094031		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chrX:53142506_53142507insA	ENST00000604849.1	+	0	96																											AAAACACACACACAAAAAAAAA	0.356													3	3	---	---	---	---					
ALG13	79868	broad.mit.edu	37	X	110952229	110952229	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chrX:110952229delA	ENST00000394780.3	+	5	799	c.787delA	c.(787-789)agfs	p.K263fs	ALG13_ENST00000251943.4_Frame_Shift_Del_p.K159fs|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	263	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GGAAATCAGGAAGGCTTGTGT	0.403													2	4	---	---	---	---					
