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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
ARID1A	8289	broad.mit.edu	37	1	27099013	27099013	+	Silent	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:27099013G>C	uc001bmv.1	+	13	3802	c.3429G>C	c.(3427-3429)GGG>GGC	p.G1143G	ARID1A_uc001bmt.1_Silent_p.G1143G|ARID1A_uc001bmu.1_Silent_p.G1143G|ARID1A_uc001bmw.1_Silent_p.G760G|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1143					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTATGCAGGGGCCCCAGACTC	0.527		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								12	48					0	0	0	0
CYP2J2	1573	broad.mit.edu	37	1	60381634	60381634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:60381634G>A	uc001czq.2	-	2	354	c.349C>T	c.(349-351)CGA>TGA	p.R117*		NM_000775	NP_000766	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J,	117					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			ovary(1)	1	all_cancers(7;0.000396)					ATATGTTCTCGCATAGGGGTC	0.428		NA											15	98					0	0	0	0
INADL	10207	broad.mit.edu	37	1	62593753	62593753	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:62593753C>T	uc001dab.2	+	40	5267	c.5153C>T	c.(5152-5154)ACA>ATA	p.T1718I	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.T502I	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1718	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GCCGCACGGACACAGAAGCTT	0.488		NA											5	37					0	0	0	0
C1orf103	55791	broad.mit.edu	37	1	111495258	111495258	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:111495258T>G	uc001eaa.2	-	2	504	c.248A>C	c.(247-249)CAG>CCG	p.Q83P	C1orf103_uc001dzz.2_5'UTR|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		GCTGGAAATCTGAGTCTGAAA	0.378		NA											11	35					0	0	0	0
C1orf129	80133	broad.mit.edu	37	1	170961470	170961470	+	Silent	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:170961470G>A	uc001ghg.2	+	12	1324	c.1194G>A	c.(1192-1194)GCG>GCA	p.A398A	C1orf129_uc009wvy.2_Silent_p.A205A|C1orf129_uc010plz.1_Silent_p.A398A	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	398							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCTTTGGCGGTAAATAACA	0.413		NA											6	77					0	0	0	0
DUSP5	1847	broad.mit.edu	37	10	112257918	112257918	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr10:112257918G>C	uc001kzd.2	+	1	294	c.39G>C	c.(37-39)AAG>AAC	p.K13N		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	13					endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGCTGCGCAAGATGCTCCGCA	0.537		NA											8	24					0	0	0	0
METT5D1	196074	broad.mit.edu	37	11	28318421	28318421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:28318421C>T	uc001msh.2	+	6	1176	c.721C>T	c.(721-723)CAG>TAG	p.Q241*	METT5D1_uc001msg.2_Nonsense_Mutation_p.Q241*|METT5D1_uc001mse.2_Missense_Mutation_p.S226L|METT5D1_uc001msi.2_Nonsense_Mutation_p.Q38*	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	methyltransferase 5 domain containing 1 isoform	241							methyltransferase activity				0						AGCAATTGTTCAGGCACGCAG	0.453		NA											11	68					0	0	0	0
MADD	8567	broad.mit.edu	37	11	47305994	47305994	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:47305994C>A	uc001ner.1	+	12	2226	c.2035C>A	c.(2035-2037)CAG>AAG	p.Q679K	MADD_uc001neq.2_Missense_Mutation_p.Q679K|MADD_uc001nev.1_Missense_Mutation_p.Q679K|MADD_uc001nes.1_Missense_Mutation_p.Q679K|MADD_uc001net.1_Missense_Mutation_p.Q679K|MADD_uc009yln.1_Missense_Mutation_p.Q679K|MADD_uc001neu.1_Missense_Mutation_p.Q679K|MADD_uc001nex.2_Missense_Mutation_p.Q679K|MADD_uc001nez.2_Missense_Mutation_p.Q679K|MADD_uc001new.2_Missense_Mutation_p.Q679K	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	679					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		GCTGCAGAATCAGAAGGAAGC	0.592		NA											28	40					8.58e-18	4.31e-17	1	0
NUMA1	4926	broad.mit.edu	37	11	71715073	71715073	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:71715073G>A	uc001orl.1	-	26	6368	c.6196C>T	c.(6196-6198)CGG>TGG	p.R2066W	IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.R248W|NUMA1_uc009ysw.1_Missense_Mutation_p.R1633W|NUMA1_uc001ork.1_Missense_Mutation_p.R930W|NUMA1_uc001orm.1_Missense_Mutation_p.R2052W	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2066					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GAGGCTCCCCGCCGCAGAAGG	0.647		NA	T	RARA	APL								24	136					0	0	0	0
FAT3	120114	broad.mit.edu	37	11	92088363	92088363	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:92088363G>T	uc001pdj.3	+	1	3102	c.3085G>T	c.(3085-3087)GTG>TTG	p.V1029L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1029	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTTGTTGAGGTGGAAGTGGT	0.458		NA								TCGA Ovarian(4;0.039)			7	38					8.13e-05	0.000379993	1	0
PTPRB	5787	broad.mit.edu	37	12	70974931	70974931	+	Silent	SNP	A	A	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr12:70974931A>G	uc001swb.3	-	8	1839	c.1809T>C	c.(1807-1809)AGT>AGC	p.S603S	PTPRB_uc010sto.1_Silent_p.S603S|PTPRB_uc010stp.1_Silent_p.S513S|PTPRB_uc001swc.3_Silent_p.S821S|PTPRB_uc001swa.3_Silent_p.S821S|PTPRB_uc001swd.3_Silent_p.S820S|PTPRB_uc009zrr.1_Silent_p.S700S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	603	Fibronectin type-III 7.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCTGGTCTCACTGGAGATGC	0.473		NA											16	78					0	0	0	0
DIAPH3	81624	broad.mit.edu	37	13	60584694	60584694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr13:60584694G>A	uc001vht.2	-	8	1100	c.881C>T	c.(880-882)GCG>GTG	p.A294V	DIAPH3_uc001vhu.2_Missense_Mutation_p.A31V|DIAPH3_uc001vhw.1_Missense_Mutation_p.A283V|DIAPH3_uc010aed.1_Missense_Mutation_p.A248V|DIAPH3_uc010aee.1_Missense_Mutation_p.A224V|uc001vhx.2_5'Flank|uc001vhy.2_5'Flank	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	294	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AATGCATACCGCAGAGAGAAG	0.368		NA											7	23					0	0	0	0
PCNX	22990	broad.mit.edu	37	14	71444780	71444780	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr14:71444780C>T	uc001xmo.2	+	6	2172	c.1726C>T	c.(1726-1728)CGG>TGG	p.R576W	PCNX_uc001xmn.3_Missense_Mutation_p.R576W|PCNX_uc010are.1_Missense_Mutation_p.R576W	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	576						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGATTCAAGCCGGCATAGGGA	0.473		NA											5	135					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94069729	94069729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr14:94069729C>T	uc001ybv.1	+	23	3271	c.3188C>T	c.(3187-3189)GCG>GTG	p.A1063V	KIAA1409_uc001ybs.1_Missense_Mutation_p.A1063V	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1240						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TCCAAGAGGGCGCTCTCCCTC	0.493		NA											13	77					0	0	0	0
GABRB3	2562	broad.mit.edu	37	15	26812809	26812809	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr15:26812809T>C	uc001zaz.2	-	7	896	c.754A>G	c.(754-756)ATG>GTG	p.M252V	GABRB3_uc010uae.1_Missense_Mutation_p.M167V|GABRB3_uc001zba.2_Missense_Mutation_p.M252V|GABRB3_uc001zbb.2_Missense_Mutation_p.M308V	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	252	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATAGAGGGCATATAAGTCTGA	0.428		NA											9	30					0	0	0	0
TUBB3	10381	broad.mit.edu	37	16	90001360	90001360	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr16:90001360C>T	uc002fph.1	+	4	566	c.501C>T	c.(499-501)TTC>TTT	p.F167F	TUBB3_uc002fpf.2_Silent_p.F514F|TUBB3_uc010ciz.1_Silent_p.F95F|TUBB3_uc002fpg.1_Silent_p.F21F|TUBB3_uc002fpi.1_Silent_p.F95F|TUBB3_uc002fpj.1_Silent_p.F95F|TUBB3_uc010cjb.1_Silent_p.F21F|TUBB3_uc002fpk.1_Silent_p.F21F	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	167					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGAACACCTTCAGCGTCGTGC	0.627		NA											19	123					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			15	17					0	0	0	0
ADAP2	55803	broad.mit.edu	37	17	29261281	29261281	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:29261281G>C	uc002hfx.2	+	5	755	c.476G>C	c.(475-477)AGA>ACA	p.R159T	ADAP2_uc010csk.2_Missense_Mutation_p.R165T|ADAP2_uc002hfy.2_Missense_Mutation_p.R159T|ADAP2_uc010csl.2_RNA	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein	159	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1						CTTCTGGCAAGAGAAGGCCTC	0.483		NA											13	11					0	0	0	0
ABCC3	8714	broad.mit.edu	37	17	48745371	48745371	+	Splice_Site	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:48745371G>A	uc002isl.2	+	13	1862	c.1782_splice	c.e13+1	p.Q594_splice		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3						bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGACTCAGGTAACCCTGGG	0.527		NA											16	34					0	0	0	0
TUBD1	51174	broad.mit.edu	37	17	57968230	57968230	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:57968230G>C	uc002ixw.1	-	2	412	c.134C>G	c.(133-135)TCT>TGT	p.S45C	TUBD1_uc010ddf.1_Missense_Mutation_p.S45C|TUBD1_uc010ddg.1_Missense_Mutation_p.S10C|TUBD1_uc010ddh.1_Translation_Start_Site|TUBD1_uc010wok.1_Missense_Mutation_p.S45C|TUBD1_uc002ixx.1_Missense_Mutation_p.S45C|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Missense_Mutation_p.S45C|RPS6KB1_uc010ddj.1_5'Flank|RPS6KB1_uc002ixy.2_5'Flank|RPS6KB1_uc010wom.1_5'Flank|RPS6KB1_uc010won.1_5'Flank	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	45					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTCTTTGCAAGATGCTTGATA	0.353		NA											36	76					0	0	0	0
ACE	1636	broad.mit.edu	37	17	61570945	61570945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:61570945G>A	uc002jau.1	+	20	3083	c.3061G>A	c.(3061-3063)GTG>ATG	p.V1021M	ACE_uc002jav.1_Missense_Mutation_p.V447M|ACE_uc010ddv.1_Missense_Mutation_p.V248M|ACE_uc010wpj.1_Missense_Mutation_p.V447M|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.V267M	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1021	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CATTGGGGACGTGCTAGCCCT	0.597		NA											6	40					0	0	0	0
CABLES1	91768	broad.mit.edu	37	18	20833870	20833870	+	Silent	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr18:20833870C>G	uc002kuc.2	+	9	1731	c.1731C>G	c.(1729-1731)CTC>CTG	p.L577L	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Silent_p.L80L|CABLES1_uc002kud.2_Silent_p.L312L	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	577					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGTGACCTCAAAAAACACG	0.493		NA											5	37					0	0	0	0
LONP1	9361	broad.mit.edu	37	19	5705940	5705940	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:5705940T>C	uc002mcx.2	-	8	1243	c.1210A>G	c.(1210-1212)AAG>GAG	p.K404E	LONP1_uc002mcy.2_Missense_Mutation_p.K340E|LONP1_uc010duh.2_Missense_Mutation_p.K145E|LONP1_uc010dui.2_Missense_Mutation_p.K388E|LONP1_uc002mcz.2_Missense_Mutation_p.K208E	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	404					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						AGCTCCTTCTTGATGATCTTT	0.592		NA											3	103					0	0	0	0
TYK2	7297	broad.mit.edu	37	19	10476499	10476499	+	Silent	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:10476499C>G	uc002moc.3	-	7	1083	c.705G>C	c.(703-705)CGG>CGC	p.R235R	TYK2_uc010dxe.2_Silent_p.R50R|TYK2_uc002mod.2_Silent_p.R235R	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	235	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGAAGACGTTCCGAAGGCGCA	0.612		NA											4	22					0	0	0	0
ZNF676	163223	broad.mit.edu	37	19	22364284	22364284	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:22364284A>T	uc002nqs.1	-	3	553	c.235T>A	c.(235-237)TTA>ATA	p.L79I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTAAGTGTAAATTCTCATGT	0.338		NA											5	54					0	0	0	0
CHST8	64377	broad.mit.edu	37	19	34263279	34263279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:34263279G>A	uc002nus.3	+	5	1091	c.586G>A	c.(586-588)GAG>AAG	p.E196K	CHST8_uc002nut.3_Missense_Mutation_p.E196K|CHST8_uc002nuu.2_Missense_Mutation_p.E196K	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	196	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					GCTCTACTGCGAGGTGCCCAA	0.692		NA											18	46					0	0	0	0
ZNF146	7705	broad.mit.edu	37	19	36727775	36727775	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:36727775G>A	uc002odq.3	+	4	1956	c.433G>A	c.(433-435)GAG>AAG	p.E145K	ZNF146_uc010eet.2_Missense_Mutation_p.E145K|ZNF146_uc010eeu.2_Missense_Mutation_p.E145K	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	145	C2H2-type 5.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					CAACCTTACTGAGCATGAGAA	0.418		NA											8	84					0	0	0	0
ZFP112	7771	broad.mit.edu	37	19	44833908	44833908	+	Silent	SNP	G	G	A	rs147887844		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:44833908G>A	uc010ejj.2	-	5	533	c.420C>T	c.(418-420)CTC>CTT	p.L140L	ZFP112_uc002ozc.3_Silent_p.L134L|ZFP112_uc010xwy.1_Silent_p.L157L|ZFP112_uc010xwz.1_Silent_p.L139L	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						AAACCTGGCCGAGGGAATTAC	0.403		NA											9	46					0	0	0	0
BCAM	4059	broad.mit.edu	37	19	45317520	45317520	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:45317520C>T	uc002ozu.2	+	7	940	c.896C>T	c.(895-897)CCG>CTG	p.P299L	BCAM_uc002ozt.1_Missense_Mutation_p.P299L	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	299	Extracellular (Potential).|Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCCCCAGCCCGGAGTATACG	0.657		NA											20	72					0	0	0	0
ZNF480	147657	broad.mit.edu	37	19	52825750	52825750	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:52825750G>A	uc010ydl.1	+	5	1317	c.1247G>A	c.(1246-1248)CGA>CAA	p.R416Q	ZNF480_uc002pyv.2_Missense_Mutation_p.R339Q|ZNF480_uc010ydm.1_Missense_Mutation_p.R373Q|ZNF480_uc010epn.2_Missense_Mutation_p.R247Q|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	416	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AATCTTGCACGACATCGAAGA	0.368		NA											12	87					0	0	0	0
PAK7	57144	broad.mit.edu	37	20	9546621	9546621	+	Silent	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr20:9546621G>A	uc002wnl.2	-	6	1946	c.1401C>T	c.(1399-1401)ACC>ACT	p.T467T	PAK7_uc002wnk.2_Silent_p.T467T|PAK7_uc002wnj.2_Silent_p.T467T|PAK7_uc010gby.1_Silent_p.T467T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	467	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			TGTGTTTCTCGGTGGCGATGC	0.522		NA											22	144					0	0	0	0
ADRBK2	157	broad.mit.edu	37	22	26083560	26083560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr22:26083560C>T	uc003abx.3	+	11	1030	c.883C>T	c.(883-885)CGG>TGG	p.R295W	ADRBK2_uc010gux.2_Missense_Mutation_p.R295W|ADRBK2_uc003abw.2_Missense_Mutation_p.R182W|ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	295	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	GAAGGAGATGCGGTTTTATGC	0.418		NA											8	52					0	0	0	0
PLCD1	5333	broad.mit.edu	37	3	38058058	38058058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:38058058C>T	uc003chn.2	-	3	476	c.352G>A	c.(352-354)GCC>ACC	p.A118T	PLCD1_uc003chm.2_Missense_Mutation_p.A139T	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	118	PH.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGTGCTGGGCATCAGCTGGC	0.587		NA											6	22					0	0	0	0
CADM2	253559	broad.mit.edu	37	3	86028420	86028420	+	Silent	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:86028420C>A	uc003dqj.2	+	8	1676	c.1050C>A	c.(1048-1050)ACC>ACA	p.T350T	CADM2_uc003dqk.2_Intron|CADM2_uc003dql.2_Silent_p.T352T	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	350	Thr-rich.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGCAACAACCAGCAGCATCA	0.433		NA											24	163					2.42e-17	1.2e-16	1	0
NR1I2	8856	broad.mit.edu	37	3	119531666	119531666	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:119531666A>G	uc003edj.2	+	5	2492	c.653A>G	c.(652-654)GAG>GGG	p.E218G	NR1I2_uc003edi.2_Missense_Mutation_p.E181G|NR1I2_uc003edk.2_Missense_Mutation_p.E257G|NR1I2_uc003edl.2_Missense_Mutation_p.E106G	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	218	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTGCGGGGGGAGGATGGCAGT	0.582		NA											5	69					0	0	0	0
IFT80	57560	broad.mit.edu	37	3	160025459	160025459	+	Silent	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:160025459G>A	uc011boy.1	-	10	1501	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.Y219Y|IFT80_uc003fdd.1_Silent_p.Y39Y|IFT80_uc003fde.1_Silent_p.Y219Y	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	356						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACGAGAACACGTAACATTGAA	0.368		NA											8	34					0	0	0	0
ZNF141	7700	broad.mit.edu	37	4	367159	367159	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:367159C>T	uc003gaa.2	+	5	1111	c.933C>T	c.(931-933)TAC>TAT	p.Y311Y	ZNF141_uc003gab.2_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	zinc finger protein 141	311	C2H2-type 6.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0						AGAAACCCTACAAATGTGAAG	0.393		NA											35	62					0	0	0	0
AFAP1	60312	broad.mit.edu	37	4	7857195	7857195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:7857195G>A	uc003gkg.1	-	4	605	c.332C>T	c.(331-333)TCA>TTA	p.S111L	AFAP1_uc011bwk.1_Missense_Mutation_p.S111L	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	111						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						CCACTCACTTGATGTGATGTA	0.562		NA											13	45					0	0	0	0
FGB	2244	broad.mit.edu	37	4	155489613	155489613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:155489613A>T	uc003ioa.3	+	5	838	c.799A>T	c.(799-801)AGA>TGA	p.R267*	FGB_uc003iob.3_Nonsense_Mutation_p.R264*|FGB_uc010ipv.2_Nonsense_Mutation_p.R205*|FGB_uc010ipw.2_Nonsense_Mutation_p.R264*|FGB_uc003ioc.3_Nonsense_Mutation_p.R48*	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	267	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAAACCGTATAGAGTATACTG	0.373		NA											6	80					0	0	0	0
AGXT2	64902	broad.mit.edu	37	5	35014142	35014142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr5:35014142G>A	uc003jjf.2	-	10	1125	c.1046C>T	c.(1045-1047)GCT>GTT	p.A349V	AGXT2_uc003jje.1_Missense_Mutation_p.A2V|AGXT2_uc011com.1_Intron	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	349					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AATCCCTTTAGCCATGGTGAC	0.527		NA											48	63					0	0	0	0
CATSPER3	347732	broad.mit.edu	37	5	134303694	134303694	+	Missense_Mutation	SNP	C	C	T	rs140980095	byFrequency	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr5:134303694C>T	uc003lag.2	+	1	81	c.13C>T	c.(13-15)CGT>TGT	p.R5C	PCBD2_uc011cxw.1_3'UTR	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	5	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTCAACACCGTCACCAGCG	0.388		NA											3	27					0	0	0	0
EYA4	2070	broad.mit.edu	37	6	133783832	133783832	+	Silent	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr6:133783832C>A	uc003qec.3	+	9	1112	c.654C>A	c.(652-654)GGC>GGA	p.G218G	EYA4_uc011ecq.1_Silent_p.G164G|EYA4_uc011ecr.1_Silent_p.G164G|EYA4_uc003qed.3_Silent_p.G218G|EYA4_uc003qee.3_Silent_p.G195G|EYA4_uc011ecs.1_Silent_p.G218G|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	218					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TACAGAGTGGCTGCCTCAGTT	0.473		NA											9	44					7.48e-07	3.59e-06	1	0
ABCB5	340273	broad.mit.edu	37	7	20725391	20725391	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:20725391C>T	uc003suw.3	+	7	1153	c.607C>T	c.(607-609)CTG>TTG	p.L203L	ABCB5_uc010kuh.2_Silent_p.L648L	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	203	Extracellular (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CTCACTTCCTCTGCACTCTGT	0.398		NA											6	24					0	0	0	0
NT5C3	51251	broad.mit.edu	37	7	33057128	33057128	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:33057128C>G	uc003tdk.2	-	7	708	c.631G>C	c.(631-633)GAG>CAG	p.E211Q	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.E172Q|NT5C3_uc003tdj.2_Missense_Mutation_p.E172Q	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	211					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			ATAACTTCCTCTAGTACATCG	0.378		NA											9	60					0	0	0	0
BBS9	27241	broad.mit.edu	37	7	33390925	33390925	+	Silent	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:33390925C>G	uc003tdn.1	+	14	2040	c.1527C>G	c.(1525-1527)TCC>TCG	p.S509S	BBS9_uc003tdo.1_Intron|BBS9_uc003tdp.1_Silent_p.S509S|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.S33S|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Silent_p.S387S	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	509					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			TTTCTTATTCCAGACCAACAG	0.323		NA							Bardet-Biedl_syndrome				5	49					0	0	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:100350361T>C	uc003uwj.2	+	14	2798	c.2633T>C	c.(2632-2634)CTC>CCC	p.L878P	ZAN_uc003uwk.2_Missense_Mutation_p.L878P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	878	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502		NA											3	47					0	0	0	0
GRM8	2918	broad.mit.edu	37	7	126249445	126249445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:126249445C>T	uc003vlr.2	-	7	1776	c.1465G>A	c.(1465-1467)GGC>AGC	p.G489S	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G489S|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	489	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTCCAGTGGCCGATGACTTTG	0.378		NA								HNSCC(24;0.065)			15	93					0	0	0	0
TRIM24	8805	broad.mit.edu	37	7	138252356	138252356	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:138252356A>C	uc003vuc.2	+	10	1876	c.1661A>C	c.(1660-1662)AAC>ACC	p.N554T	TRIM24_uc003vub.2_Missense_Mutation_p.N520T	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	554					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						ATAAAGCCAAACCCCCTACAG	0.423		NA											10	52					0	0	0	0
LSM1	27257	broad.mit.edu	37	8	38021331	38021331	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38021331G>T	uc003xkw.2	-	4	447	c.259C>A	c.(259-261)CTC>ATC	p.L87I	LSM1_uc003xkx.2_RNA	NM_014462	NP_055277	O15116	LSM1_HUMAN	Lsm1 protein	87					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0	Colorectal(12;0.000442)					ACTTGCTGGAGGGGTGTGTCA	0.458		NA											8	84					5.18e-06	2.47e-05	1	0
BAG4	9530	broad.mit.edu	37	8	38067634	38067634	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38067634G>C	uc003xky.1	+	5	1279	c.997G>C	c.(997-999)GAT>CAT	p.D333H	BAG4_uc003xkz.1_Missense_Mutation_p.D297H	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	333					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGATGATTCAGATCTTTTGGA	0.463		NA											12	121					0	0	0	0
BAG4	9530	broad.mit.edu	37	8	38067849	38067849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38067849G>C	uc003xky.1	+	5	1494	c.1212G>C	c.(1210-1212)AAG>AAC	p.K404N	BAG4_uc003xkz.1_Missense_Mutation_p.K368N	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	404	BAG.				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TAGGAAAAAAGACAGACAAAG	0.423		NA											4	81					0	0	0	0
ODF1	4956	broad.mit.edu	37	8	103564263	103564263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:103564263G>A	uc003ykt.2	+	1	416	c.308G>A	c.(307-309)CGA>CAA	p.R103Q		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	103					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATGAGAAGCGAGAGCTTGCC	0.358		NA											14	101					0	0	0	0
COL14A1	7373	broad.mit.edu	37	8	121259909	121259909	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:121259909G>A	uc003yox.2	+	21	2802	c.2537G>A	c.(2536-2538)CGC>CAC	p.R846H	COL14A1_uc003yoy.2_Missense_Mutation_p.R524H	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	846	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACCGGTTGCGCATTACGTGG	0.458		NA											33	71					0	0	0	0
TJP2	9414	broad.mit.edu	37	9	71851111	71851111	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr9:71851111A>T	uc004ahe.2	+	13	2148	c.1948A>T	c.(1948-1950)ATT>TTT	p.I650F	TJP2_uc011lrs.1_Missense_Mutation_p.I627F|TJP2_uc011lrt.1_Missense_Mutation_p.I627F|TJP2_uc004ahd.2_Missense_Mutation_p.I650F|TJP2_uc004ahf.2_Missense_Mutation_p.I650F|TJP2_uc011lru.1_Missense_Mutation_p.I654F|TJP2_uc011lrv.1_Missense_Mutation_p.I672F	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	650	SH3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GGCTGTGAGGATTGGGAACGA	0.522		NA											9	63					0	0	0	0
KIAA1984	84960	broad.mit.edu	37	9	139700965	139700965	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr9:139700965C>T	uc004cjf.2	+	11	1167	c.1119C>T	c.(1117-1119)TCC>TCT	p.S373S	C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.2_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc010nbr.1_5'Flank|LOC100131193_uc004cjg.1_RNA	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	373	Potential.									ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GCTTCAAGTCCGTTGAGAAGA	0.582		NA											4	34					0	0	0	0
TBX22	50945	broad.mit.edu	37	X	79282319	79282319	+	Silent	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chrX:79282319C>A	uc010nmg.1	+	6	884	c.750C>A	c.(748-750)TCC>TCA	p.S250S	TBX22_uc004edi.1_Silent_p.S130S|TBX22_uc004edj.1_Silent_p.S250S	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	250	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						AAACATTCTCCTTTAAAGAAA	0.478		NA											22	15					1.11e-12	5.4e-12	1	0
HPRT1	3251	broad.mit.edu	37	X	133609219	133609219	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chrX:133609219G>A	uc004exl.3	+	3	310	c.143G>A	c.(142-144)CGT>CAT	p.R48H	HPRT1_uc010nrs.2_RNA	NM_000194	NP_000185	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	48			R -> H (in GOUT-HPRT; AD and DD).		adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity				0	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)	AGGACTGAACGTCTTGCTCGA	0.368		NA											7	25					0	0	0	0
KIAA1383	54627	broad.mit.edu	37	1	232940983	232940984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:232940983_232940984insA	uc001hvh.2	+	1	346_347	c.214_215insA	c.(214-216)CAAfs	p.Q72fs		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	Error:Variant_position_missing_in_Q9P2G4_after_alignment										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				AGGTTGGTGGCAAAAAACGGCT	0.45		NA											37	96	---	---	---	---	NA	NA	NA	NA
RUNX1	861	broad.mit.edu	37	21	36171600	36171601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr21:36171600_36171601insA	uc002yuh.2	-	5	2461_2462	c.883_884insT	c.(883-885)TCAfs	p.S295fs	RUNX1_uc002yui.2_Frame_Shift_Ins_p.S231fs|RUNX1_uc010gmu.2_Frame_Shift_Ins_p.S322fs|RUNX1_uc010gmv.2_Frame_Shift_Ins_p.S322fs|RUNX1_uc002yuj.3_Frame_Shift_Ins_p.S190fs|RUNX1_uc002yuk.3_Frame_Shift_Ins_p.S322fs|RUNX1_uc002yul.1_Frame_Shift_Ins_p.S87fs|RUNX1_uc002yum.1_Frame_Shift_Ins_p.S126fs	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	295	Interaction with MYST3.|Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S322fs*160(1)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						TGGCTTACTTGAGAGTCGACTG	0.52		NA	T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				14	81	---	---	---	---	NA	NA	NA	NA
