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
ZNF304	57343	broad.mit.edu	37	19	57868528	57868528	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:57868528A>T	ENST00000391705.3	+	4	1575	c.1291A>T	c.(1291-1293)Aac>Tac	p.N431Y	ZNF304_ENST00000443917.2_Missense_Mutation_p.N478Y|ZNF304_ENST00000282286.5_Missense_Mutation_p.N431Y|ZNF304_ENST00000598744.1_Missense_Mutation_p.N389Y	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTTTAGCCATAACTCTAGCCT	0.453000													11	26					0	0	0.069234	0	0
CDH18	1016	broad.mit.edu	37	5	19839081	19839081	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:19839081G>A	ENST00000507958.1	-	5	1005	c.15C>T	c.(13-15)agC>agT	p.S5S	CDH18_ENST00000382275.1_Silent_p.S5S|CDH18_ENST00000274170.4_Silent_p.S5S|CDH18_ENST00000511273.1_Silent_p.S5S|CDH18_ENST00000502796.1_Silent_p.S5S|CDH18_ENST00000506372.1_Silent_p.S5S			Q13634	CAD18_HUMAN	cadherin 18, type 2	5					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGCAAGATGTGCTAGTAATTT	0.433000													16	12					0	0	0.132662	0	0
RANBP2	5903	broad.mit.edu	37	2	109367719	109367719	+	Splice_Site	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:109367719G>T	ENST00000283195.6	+	10	1399		c.e10-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTTATTTCAGGTGCTATTCG	0.338000													77	142					8.50452e-49	1.23412e-48	0.139131	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118396416	118396416	+	RNA	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118396416A>G	ENST00000537242.1	+	0	1083				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGAGAGTGGTAACTTTACTAG	0.393000													3	11					0	0	0.009096	0	0
POLR3A	11128	broad.mit.edu	37	10	79764513	79764513	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:79764513C>T	ENST00000372371.3	-	16	2345	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	736					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTGCTGCTGCAGCTTGCCCG	0.592000													7	15					0	0	0.029380	0	0
SLC26A11	284129	broad.mit.edu	37	17	78219976	78219976	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:78219976G>T	ENST00000361193.3	+	12	1401	c.1121G>T	c.(1120-1122)gGg>gTg	p.G374V	SLC26A11_ENST00000411502.3_Missense_Mutation_p.G374V|SLC26A11_ENST00000572725.1_Missense_Mutation_p.G374V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.G374V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	374						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTCAGTCGGGGGTGTGCACC	0.667000													22	102					3.6726e-16	4.88836e-16	0.091800	1	0
IVL	3713	broad.mit.edu	37	1	152882594	152882594	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152882594G>A	ENST00000368764.3	+	2	385	c.321G>A	c.(319-321)caG>caA	p.Q107Q	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	107					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCAGCAGCTTAAGCAGG	0.483000													8	12					0	0	0.038147	0	0
ABCA6	23460	broad.mit.edu	37	17	67124870	67124870	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:67124870G>T	ENST00000284425.2	-	8	1183	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	337					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCCCAAAAGAGGGTAAGGAGA	0.423000													11	63					2.80697e-09	3.41796e-09	0.080935	1	0
ITGA8	8516	broad.mit.edu	37	10	15700997	15700997	+	Splice_Site	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:15700997C>T	ENST00000378076.3	-	10	1302		c.e10+1			NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AATGTCTCTACCTGTTCTCCC	0.313000													13	11					0	0	0.105934	0	0
INHA	3623	broad.mit.edu	37	2	220437168	220437168	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:220437168G>A	ENST00000243786.2	+	1	252	c.72G>A	c.(70-72)ctG>ctA	p.L24L	INHA_ENST00000489456.1_Intron	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	24					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCTGGAGCTGGCCCGGGAAC	0.662000											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	20					0	0	0.049695	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004022	75004022	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:75004022G>T	ENST00000373359.2	-	1	1057	c.865C>A	c.(865-867)Ctg>Atg	p.L289M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	289										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCACCTTCCAGGGCCTTATTA	0.473000													10	17					4.68919e-08	5.55223e-08	0.069234	1	0
TNR	7143	broad.mit.edu	37	1	175375752	175375752	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:175375752C>A	ENST00000367674.1	-	3	807	c.99G>T	c.(97-99)ctG>ctT	p.L33L	TNR_ENST00000263525.2_Silent_p.L33L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	33					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)					TGGTGACCTCCAGCTGACACT	0.537000													53	72					1.4709e-25	2.07214e-25	0.139131	1	0
LILRA1	11024	broad.mit.edu	37	19	55107222	55107222	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:55107222G>A	ENST00000251372.3	+	6	962	c.780G>A	c.(778-780)gaG>gaA	p.E260E	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	260	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGTATAAGGAGGGAGAACGTG	0.617000													25	66					0	0	0.099896	0	0
ITGA8	8516	broad.mit.edu	37	10	15649744	15649744	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:15649744G>T	ENST00000378076.3	-	17	2049	c.1696C>A	c.(1696-1698)Cgc>Agc	p.R566S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	566					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGGAAGACGCGATGAGCCTGA	0.453000													123	65					4.50961e-65	6.56872e-65	0.139131	1	0
NOTCH1	4851	broad.mit.edu	37	9	139402542	139402542	+	Silent	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:139402542C>G	ENST00000277541.6	-	21	3450	c.3375G>C	c.(3373-3375)gcG>gcC	p.A1125A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1125	EGF-like 29.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTGTTGCCCGCGTCCACAC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	33					0	0	0.038147	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995560	140995560	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:140995560T>C	ENST00000285879.4	+	4	2656	c.2370T>C	c.(2368-2370)ctT>ctC	p.L790L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	790							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGAGTCTTCTCCAAAGTT	0.567000										HNSCC(15;0.026)			69	37					0	0	0.139131	0	0
NLRP3	114548	broad.mit.edu	37	1	247593033	247593033	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:247593033C>T	ENST00000366497.2	+	5	3083	c.2303C>T	c.(2302-2304)cCt>cTt	p.P768L	NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.P768L|NLRP3_ENST00000366496.2_Missense_Mutation_p.P768L|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000336119.3_Missense_Mutation_p.P768L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	825					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCCAGCATCCTGGCTGTAAC	0.498000													11	42					0	0	0.080935	0	0
THSD7B	80731	broad.mit.edu	37	2	138414459	138414459	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:138414459G>T	ENST00000409968.1	+	23	4377	c.4199G>T	c.(4198-4200)aGa>aTa	p.R1400I	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1372I|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1403I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGCCAGTCTAGATCAAGGACT	0.463000													17	75					6.49762e-13	8.3325e-13	0.038395	1	0
TOR1AIP2	163590	broad.mit.edu	37	1	179834003	179834003	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:179834003A>T	ENST00000553856.1	-	1	308	c.309T>A	c.(307-309)tcT>tcA	p.S103S	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR	NM_022347.3	NP_071742.1																					CAGCTACTCGAGAGTCATGTA	0.408000													26	75					0	0	0.083992	0	0
INPP5A	3632	broad.mit.edu	37	10	134563023	134563023	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:134563023G>A	ENST00000368594.3	+	10	1012	c.735G>A	c.(733-735)acG>acA	p.T245T	INPP5A_ENST00000368593.3_Silent_p.T245T	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	245					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TTCTGCAGACGCTCTGCACAA	0.602000													7	20					0	0	0.047766	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121671535	121671535	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:121671535C>T	ENST00000393386.2	+	15	5499	c.5088C>T	c.(5086-5088)gtC>gtT	p.V1696V	PTPRZ1_ENST00000449182.1_Silent_p.V836V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1696					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGATGATGTCGGAGCAATTC	0.313000													21	35					0	0	0.125774	0	0
FAM43A	131583	broad.mit.edu	37	3	194408726	194408726	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:194408726A>T	ENST00000329759.4	+	1	2105	c.1171A>T	c.(1171-1173)Agc>Tgc	p.S391C		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	391										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GGGCAGCGAGAGCTCCATCGA	0.736000													7	15					0	0	0.029380	0	0
PLCH1	23007	broad.mit.edu	37	3	155199248	155199248	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:155199248C>A	ENST00000460012.1	-	23	4834	c.4477G>T	c.(4477-4479)Gtg>Ttg	p.V1493L	PLCH1_ENST00000334686.6_Missense_Mutation_p.V1493L|PLCH1_ENST00000340059.7_Missense_Mutation_p.V1531L|PLCH1_ENST00000414191.1_Missense_Mutation_p.V1493L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1531					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGTCTTCACAGTCACGCCC	0.443000													13	73					0.000219431	0.000235935	0.119110	1	0
AKIRIN2	55122	broad.mit.edu	37	6	88387536	88387536	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:88387536C>A	ENST00000257787.5	-	3	1053	c.529_splice	c.e3+1	p.E177_splice		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	177					innate immune response|transcription, DNA-dependent	transcriptional repressor complex				large_intestine(4)	4						CACCTCATACCTGCAAGTTTT	0.378000													18	29					3.51602e-12	4.44978e-12	0.049695	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68184095	68184095	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:68184095T>A	ENST00000262215.3	-	10	1803	c.1414A>T	c.(1414-1416)Agg>Tgg	p.R472W		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	472					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCATTTGTCCTGAAAATAGGT	0.358000													8	41					0	0	0.038147	0	0
DOCK11	139818	broad.mit.edu	37	X	117783069	117783069	+	Silent	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:117783069C>G	ENST00000276204.6	+	41	4634	c.4560C>G	c.(4558-4560)acC>acG	p.T1520T	DOCK11_ENST00000276202.7_Silent_p.T1520T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1520	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAAGGAAAACCTTTTTGAGGA	0.388000													34	18					0	0	0.059317	0	0
FIGN	55137	broad.mit.edu	37	2	164467941	164467941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:164467941C>G	ENST00000333129.3	-	3	715	c.401G>C	c.(400-402)gGa>gCa	p.G134A	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	134						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGAACTGACTCCAGCTTTGCT	0.498000													23	66					0	0	0.062417	0	0
ROBO1	6091	broad.mit.edu	37	3	78766929	78766929	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:78766929G>A	ENST00000436010.2	-	4	1642	c.645C>T	c.(643-645)gcC>gcT	p.A215A	ROBO1_ENST00000467549.1_Silent_p.A215A|ROBO1_ENST00000464233.1_Silent_p.A254A|ROBO1_ENST00000495273.1_Silent_p.A215A			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	254	Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTCAGCTCGGCTACTTCAC	0.383000													4	13					0	0	0.009096	0	0
MYH13	8735	broad.mit.edu	37	17	10248871	10248871	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:10248871G>A	ENST00000418404.3	-	13	1489	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V	MYH13_ENST00000252172.4_Silent_p.V442V|MYH13_ENST00000570743.1_Silent_p.V442V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	442	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGATGCGGGTGACCATCCACA	0.527000													46	78					0	0	0.139131	0	0
CALCR	799	broad.mit.edu	37	7	93108690	93108690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:93108690G>A	ENST00000359558.2	-	5	534	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	CALCR_ENST00000360249.4_Nonsense_Mutation_p.Q61*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.Q61*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.Q61*|CALCR_ENST00000421592.1_Nonsense_Mutation_p.Q61*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	61					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCGGGTAACTGCTGCATTCGG	0.378000													64	149					0	0	0.139131	0	0
AGTR1	185	broad.mit.edu	37	3	148459551	148459551	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:148459551G>A	ENST00000542281.1	+	4	1175	c.729G>A	c.(727-729)atG>atA	p.M243I	AGTR1_ENST00000402260.1_Missense_Mutation_p.M243I|AGTR1_ENST00000418473.2_Missense_Mutation_p.M243I|AGTR1_ENST00000461609.1_Missense_Mutation_p.M243I|AGTR1_ENST00000404754.2_Missense_Mutation_p.M243I|AGTR1_ENST00000349243.3_Missense_Mutation_p.M243I|AGTR1_ENST00000497524.1_Missense_Mutation_p.M243I|AGTR1_ENST00000475347.1_Missense_Mutation_p.M243I|AGTR1_ENST00000474935.1_Missense_Mutation_p.M243I	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	243					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AGATAATTATGGCAATTGTGC	0.328000													72	33					0	0	0.139131	0	0
LRFN5	145581	broad.mit.edu	37	14	42356804	42356804	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:42356804A>T	ENST00000554171.1	+	5	3408	c.976A>T	c.(976-978)Aag>Tag	p.K326*	LRFN5_ENST00000298119.4_Nonsense_Mutation_p.K326*|LRFN5_ENST00000554120.1_Nonsense_Mutation_p.K326*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	326	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGAAGGGAAGCTTATTTC	0.458000										HNSCC(30;0.082)			17	154					0	0	0.038395	0	0
OR2A2	442361	broad.mit.edu	37	7	143806846	143806846	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:143806846C>A	ENST00000408979.2	+	1	240	c.171C>A	c.(169-171)ccC>ccA	p.P57P		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TTCACACACCCATGTACTTCT	0.468000													104	130					4.98208e-43	7.20255e-43	0.139131	1	0
ZNF132	7691	broad.mit.edu	37	19	58945763	58945763	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945763C>A	ENST00000254166.3	-	3	1448	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCACATTCATCACACTCATAA	0.418000													12	50					3.07112e-06	3.46623e-06	0.080935	1	0
TTN	7273	broad.mit.edu	37	2	179665398	179665398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179665398G>A	ENST00000589042.1	-	4	531	c.307C>T	c.(307-309)Cca>Tca	p.P103S	TTN_ENST00000360870.5_Missense_Mutation_p.P103S|TTN_ENST00000342175.6_Missense_Mutation_p.P103S|TTN_ENST00000460472.2_Missense_Mutation_p.P103S|TTN_ENST00000591111.1_Missense_Mutation_p.P103S|TTN_ENST00000359218.5_Missense_Mutation_p.P103S|TTN_ENST00000342992.6_Missense_Mutation_p.P103S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	103							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTTGGGTGGTGCTGTCTCA	0.493000													29	34					0	0	0.125774	0	0
THSD4	79875	broad.mit.edu	37	15	72023554	72023554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:72023554C>A	ENST00000355327.3	+	10	1762	c.1628C>A	c.(1627-1629)cCa>cAa	p.P543Q	THSD4_ENST00000357769.4_Missense_Mutation_p.P183Q|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.P543Q			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	543						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACAGGAGACCAGGTAGAATC	0.557000											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	36					0.11911	0.12099	0.119110	1	0
HGF	3082	broad.mit.edu	37	7	81335729	81335729	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:81335729T>A	ENST00000222390.5	-	15	1857	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	HGF_ENST00000457544.2_Missense_Mutation_p.Y539F	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	544	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCAAGCTTCATAATCTTTCAA	0.338000													26	76					0	0	0.144211	0	0
ACAD10	80724	broad.mit.edu	37	12	112186135	112186135	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:112186135C>A	ENST00000455480.2	+	18	2770	c.2593C>A	c.(2593-2595)Cgt>Agt	p.R865S	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.R834S|ACAD10_ENST00000392636.2_Missense_Mutation_p.R436S	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	834							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTGGATCCTCGTTGCCAACT	0.537000													42	24					2.24893e-16	3.00376e-16	0.111260	1	0
CNTN3	5067	broad.mit.edu	37	3	74411124	74411124	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:74411124G>T	ENST00000263665.6	-	10	1308	c.1281C>A	c.(1279-1281)gtC>gtA	p.V427V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	427	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATCCAAGCTGACCAGGCTGC	0.502000													7	30					5.18039e-06	5.77928e-06	0.038147	1	0
SMAP1	60682	broad.mit.edu	37	6	71570005	71570005	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:71570005G>T	ENST00000370455.3	+	11	1620	c.1372G>T	c.(1372-1374)Ggt>Tgt	p.G458C	SMAP1_ENST00000370452.3_3'UTR|SMAP1_ENST00000316999.5_Missense_Mutation_p.G431C|B3GAT2_ENST00000230053.6_3'UTR	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	458					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AAGCTCATCAGGTCAGACTCT	0.498000													8	60					0.000442599	0.000466785	0.058154	1	0
MFHAS1	9258	broad.mit.edu	37	8	8750004	8750004	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:8750004C>G	ENST00000276282.6	-	1	1151	c.565G>C	c.(565-567)Gat>Cat	p.D189H		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	189								p.D189Y(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGGTTGTGATCCACGTCCAGG	0.677000													6	7					0	0	0.021553	0	0
SORCS2	57537	broad.mit.edu	37	4	7533275	7533275	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:7533275G>A	ENST00000507866.2	+	3	676	c.567G>A	c.(565-567)acG>acA	p.T189T	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Silent_p.T17T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	189						integral to membrane	neuropeptide receptor activity	p.T39T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTTCGGGACGTCCTACACCA	0.602000													13	10					0	0	0.093190	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989484	22989484	+	Silent	SNP	G	G	C	rs139520107		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:22989484G>C	ENST00000448514.1	+	3	336	c.336G>C	c.(334-336)acG>acC	p.T112T	GGTLC2_ENST00000480559.1_Silent_p.T112T			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	112					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGTGCCCGACGATCATGGTGG	0.647000													34	96					0	0	0.111260	0	0
OR5T2	219464	broad.mit.edu	37	11	56000380	56000380	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56000380G>A	ENST00000313264.4	-	1	357	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGGGTTTGTGGAGCTGGGAAT	0.393000													6	92					0	0	0.021553	0	0
IVD	3712	broad.mit.edu	37	15	40710403	40710403	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:40710403G>T	ENST00000249760.2	+	12	1556	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	IVD_ENST00000479013.2_Missense_Mutation_p.G378W|IVD_ENST00000487418.2_Missense_Mutation_p.G408W	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	405	Substrate binding.				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GATAGGGGCTGGGACCAGCGA	0.567000													14	53					9.16793e-09	1.09901e-08	0.033300	1	0
OR2T4	127074	broad.mit.edu	37	1	248525119	248525119	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248525119T>C	ENST00000366475.1	+	1	237	c.237T>C	c.(235-237)ctT>ctC	p.L79L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTGATCCTTCTGATACACT	0.468000													86	108					0	0	0.139131	0	0
MIS18A	54069	broad.mit.edu	37	21	33647184	33647184	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:33647184C>G	ENST00000290130.3	-	2	412	c.358G>C	c.(358-360)Gat>Cat	p.D120H		NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	120					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TGTTCCTTATCCACAGAAACA	0.303000													17	4					0	0	0.049695	0	0
CAND1	55832	broad.mit.edu	37	12	67699449	67699449	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:67699449A>T	ENST00000545606.1	+	10	2438	c.2001A>T	c.(1999-2001)aaA>aaT	p.K667N		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	667					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAGCTTTGAAACTGGGTACTC	0.423000													82	28					0	0	0.139131	0	0
N4BP2	55728	broad.mit.edu	37	4	40104316	40104316	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:40104316T>C	ENST00000261435.6	+	4	1267	c.851T>C	c.(850-852)gTa>gCa	p.V284A		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	284						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAAGCTCCTGTAGATTTGGAT	0.458000													28	15					0	0	0.059317	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647234	34647234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:34647234C>T	ENST00000591619.1	+	7	1732	c.946C>T	c.(946-948)Cct>Tct	p.P316S	KIAA1328_ENST00000280020.5_Missense_Mutation_p.P320S|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P36S|KIAA1328_ENST00000586501.1_Missense_Mutation_p.P36S|KIAA1328_ENST00000543923.1_Missense_Mutation_p.P212S|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P36S			Q86T90	K1328_HUMAN	KIAA1328	320										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGACAGCCATCCTACAAACAT	0.473000													12	65					0	0	0.093190	0	0
HERC3	8916	broad.mit.edu	37	4	89607922	89607922	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:89607922A>G	ENST00000402738.1	+	22	2782	c.2543A>G	c.(2542-2544)gAt>gGt	p.D848G	HERC3_ENST00000264345.3_Missense_Mutation_p.D848G|HERC3_ENST00000543130.1_Missense_Mutation_p.D292G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	848					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCCGGGGAGGATGTGGAGGAG	0.423000													14	17					0	0	0.038395	0	0
FAM19A2	338811	broad.mit.edu	37	12	62104166	62104166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:62104166G>A	ENST00000551449.1	-	3	317	c.139C>T	c.(139-141)Cct>Tct	p.P47S	FAM19A2_ENST00000551619.1_3'UTR|FAM19A2_ENST00000550003.1_3'UTR|FAM19A2_ENST00000416284.3_3'UTR			Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	0						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CAGCCTTGAGGATCACTTGAT	0.368000													38	66					0	0	0.092188	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995929	140995929	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:140995929C>T	ENST00000285879.4	+	4	3025	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	913	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGTGGACGAGTTGGCGC	0.488000										HNSCC(15;0.026)			58	37					0	0	0.139131	0	0
IGHM	3507	broad.mit.edu	37	14	106321207	106321207	+	RNA	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:106321207C>T	ENST00000390559.2	-	0	781																											GCCATTCTGGCGGGTCCAGGA	0.587000													4	105					0	0	0.009096	0	0
CADM2	253559	broad.mit.edu	37	3	85961535	85961535	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:85961535T>G	ENST00000383699.3	+	6	1169	c.542T>G	c.(541-543)tTa>tGa	p.L181*	CADM2_ENST00000407528.2_Nonsense_Mutation_p.L172*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.L174*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	172	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		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)		GTAAAATATTTAAAAGAAGAG	0.383000													3	21					0	0	0.009096	0	0
TLR4	7099	broad.mit.edu	37	9	120470905	120470905	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:120470905C>A	ENST00000355622.6	+	2	259	c.158C>A	c.(157-159)cCc>cAc	p.P53H	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Missense_Mutation_p.P13H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	53					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GACAACCTCCCCTTCTCAACC	0.433000													37	100					1.90571e-15	2.51919e-15	0.069456	1	0
UNC5B	219699	broad.mit.edu	37	10	73044575	73044575	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:73044575T>G	ENST00000335350.6	+	3	819	c.403T>G	c.(403-405)Tcc>Gcc	p.S135A	UNC5B_ENST00000373192.4_Missense_Mutation_p.S135A	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	135	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGCCTGGAGCTCCGCGGGCAC	0.677000													18	42					0	0	0.038395	0	0
TEKT3	64518	broad.mit.edu	37	17	15215750	15215750	+	Silent	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:15215750G>C	ENST00000395930.1	-	7	1113	c.927C>G	c.(925-927)ctC>ctG	p.L309L	TEKT3_ENST00000338696.2_Silent_p.L309L	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	309					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCTGGGAGCGGAGAATATTGT	0.463000													6	62					0	0	0.021553	0	0
MYOM1	8736	broad.mit.edu	37	18	3215034	3215034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:3215034C>T	ENST00000400569.3	-	2	521	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	MYOM1_ENST00000356443.4_Missense_Mutation_p.R63Q|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R63Q			P52179	MYOM1_HUMAN	myomesin 1	63						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGGACGCCCGACGGAAGGC	0.687000													9	38					0	0	0.058154	0	0
NLRP13	126204	broad.mit.edu	37	19	56423633	56423633	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:56423633T>C	ENST00000588751.1	-	5	1574	c.1550A>G	c.(1549-1551)tAc>tGc	p.Y517C	NLRP13_ENST00000342929.3_Missense_Mutation_p.Y517C			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	517	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTGAACTCGTAGAGAGAATC	0.448000													14	25					0	0	0.119110	0	0
PRG4	10216	broad.mit.edu	37	1	186276244	186276244	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:186276244A>G	ENST00000445192.2	+	7	1438	c.1393A>G	c.(1393-1395)Aag>Gag	p.K465E	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.K372E|PRG4_ENST00000367483.4_Missense_Mutation_p.K424E|PRG4_ENST00000367486.3_Missense_Mutation_p.K422E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	465	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACTCCCAAGGAGCCTGC	0.657000													7	33					0	0	0.047766	0	0
CR1	1378	broad.mit.edu	37	1	207739242	207739242	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:207739242G>T	ENST00000367049.4	+	24	3926	c.3926G>T	c.(3925-3927)tGg>tTg	p.W1309L	CR1_ENST00000400960.2_Missense_Mutation_p.W859L|CR1_ENST00000367053.1_Missense_Mutation_p.W859L|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.W859L|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	859	Sushi 20.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAAAGCCTTTGGAATAGCAGT	0.433000													13	57					6.31663e-08	7.45632e-08	0.132662	1	0
FAM86DP	692099	broad.mit.edu	37	3	75477026	75477026	+	RNA	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:75477026T>C	ENST00000459803.1	-	0	412					NR_024241.1																						ATGATGGCTGTGCTCTCGGAG	0.567000													7	8					0	0	0.038147	0	0
PTPRJ	5795	broad.mit.edu	37	11	48181590	48181590	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:48181590A>T	ENST00000418331.2	+	22	3899	c.3547A>T	c.(3547-3549)Aca>Tca	p.T1183S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1183	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGAGATTTCACAGTGAAAAA	0.388000													60	35					0	0	0.139131	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118215284	118215284	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118215284G>C	ENST00000369230.3	+	5	653	c.507G>C	c.(505-507)ttG>ttC	p.L169F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	169					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GCCACAGCTTGGGAGCACACC	0.423000													3	30					0	0	0.115264	0	0
IL16	3603	broad.mit.edu	37	15	81517986	81517986	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:81517986G>T	ENST00000394660.2	+	2	606	c.246G>T	c.(244-246)gaG>gaT	p.E82D	IL16_ENST00000302987.4_Missense_Mutation_p.E82D	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	82					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCCTCGGAGGCTGCTCAAC	0.567000													6	25					8.12818e-05	8.83797e-05	0.029380	1	0
ASCC3	10973	broad.mit.edu	37	6	100964151	100964151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:100964151C>A	ENST00000369162.2	-	39	6324	c.5980G>T	c.(5980-5982)Gag>Tag	p.E1994*		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E1994*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGAAGGGACTCGATGGAGGTC	0.453000													43	33					5.44703e-19	7.40335e-19	0.111260	1	0
TP53	7157	broad.mit.edu	37	17	7577018	7577018	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:7577018C>A	ENST00000420246.2	-	8	1052		c.e8+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)		TGCTTGCTTACCTCGCTTAGT	0.562000		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)			69	19					3.41413e-29	4.86293e-29	0.139131	1	0
MROH9	80133	broad.mit.edu	37	1	170941012	170941012	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:170941012C>A	ENST00000367759.4	+	8	758	c.604C>A	c.(604-606)Cgg>Agg	p.R202R	MROH9_ENST00000367758.3_Silent_p.R202R	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CTACATTGCACGGTGTCAGAA	0.458000													51	135					3.19069e-20	4.36739e-20	0.139131	1	0
ZBTB14	7541	broad.mit.edu	37	18	5291107	5291107	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:5291107T>A	ENST00000357006.4	-	4	1438	c.1100A>T	c.(1099-1101)gAc>gTc	p.D367V	ZBTB14_ENST00000400143.3_Missense_Mutation_p.D367V	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		GAAGGCTTTGTCACACATGTG	0.468000													27	100					0	0	0.108266	0	0
OPA1	4976	broad.mit.edu	37	3	193366587	193366587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:193366587G>T	ENST00000361510.2	+	21	2173	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	OPA1_ENST00000361908.3_Nonsense_Mutation_p.E629*|OPA1_ENST00000361828.2_Nonsense_Mutation_p.E610*|OPA1_ENST00000361715.2_Nonsense_Mutation_p.E611*|OPA1_ENST00000361150.2_Nonsense_Mutation_p.E593*|OPA1_ENST00000392438.3_Nonsense_Mutation_p.E592*	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	592					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGCCTAGAATGAACTATTTGA	0.313000													19	64					3.51602e-12	4.44978e-12	0.049695	1	0
LRP12	29967	broad.mit.edu	37	8	105510273	105510273	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:105510273A>T	ENST00000276654.5	-	5	615	c.507T>A	c.(505-507)gaT>gaA	p.D169E	LRP12_ENST00000424843.2_Missense_Mutation_p.D150E	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	169	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AACGAAACTGATCACAAGCAC	0.363000													27	45					0	0	0.108266	0	0
EPHA3	2042	broad.mit.edu	37	3	89156987	89156987	+	Splice_Site	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:89156987G>C	ENST00000336596.2	+	1	313		c.e1+1		EPHA3_ENST00000494014.1_Splice_Site|EPHA3_ENST00000452448.2_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3							extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCCAATGAAGGTAAGCCAGGT	0.597000										TSP Lung(6;0.00050)			14	31					0	0	0.033300	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883214	4883214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:4883214G>T	ENST00000361571.5	-	8	1811	c.1400C>A	c.(1399-1401)tCa>tAa	p.S467*	CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.S470*|CAMTA2_ENST00000348066.3_Nonsense_Mutation_p.S468*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.S473*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.S468*|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.S491*	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	468					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						gggtgggggtgagggaggggg	0.612000													24	75					4.26978e-12	5.38606e-12	0.083992	1	0
MROH2B	133558	broad.mit.edu	37	5	41052600	41052600	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:41052600G>T	ENST00000399564.4	-	12	1647	c.1197C>A	c.(1195-1197)gtC>gtA	p.V399V	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ACTGGGAGAAGACATAATCAA	0.403000													13	51					7.93312e-07	9.05972e-07	0.119110	1	0
LPA	4018	broad.mit.edu	37	6	160978515	160978515	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:160978515A>G	ENST00000447678.1	-	30	4840	c.4720T>C	c.(4720-4722)Tgc>Cgc	p.C1574R	LPA_ENST00000316300.5_Missense_Mutation_p.C1574R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4082	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCAGATTGCAGTACTCCCAC	0.493000													39	34					0	0	0.074837	0	0
ITGA10	8515	broad.mit.edu	37	1	145533882	145533882	+	Missense_Mutation	SNP	A	A	C	rs74529007		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:145533882A>C	ENST00000369304.3	+	13	1703	c.1528A>C	c.(1528-1530)Atg>Ctg	p.M510L	ITGA10_ENST00000538811.1_Missense_Mutation_p.M379L|ITGA10_ENST00000539363.1_Missense_Mutation_p.M367L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	510					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGCCCCCATGTTCCTGGG	0.527000													4	36					0	0	0.038147	0	0
PLCG2	5336	broad.mit.edu	37	16	81942171	81942171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:81942171C>G	ENST00000359376.3	+	17	1922	c.1708C>G	c.(1708-1710)Ccc>Gcc	p.P570A		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	570	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGAGACCTTCCCCAATGACTA	0.592000													5	6					0	0	0.029380	0	0
CIITA	4261	broad.mit.edu	37	16	10995377	10995377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:10995377C>A	ENST00000324288.8	+	6	576	c.443C>A	c.(442-444)cCa>cAa	p.P148Q	CIITA_ENST00000381835.5_Missense_Mutation_p.P148Q|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	148					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCAGCCTTCCCAGAGGAGCTT	0.602000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								12	20					6.72482e-11	8.34657e-11	0.132662	1	0
SLC26A7	115111	broad.mit.edu	37	8	92365165	92365165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:92365165G>T	ENST00000276609.3	+	11	1494	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.G419*|SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.G419*	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	419						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GGGACTGAAGGGAATGCTAAT	0.313000													34	61					2.19962e-31	3.14465e-31	0.104719	1	0
MKI67	4288	broad.mit.edu	37	10	129913803	129913803	+	Missense_Mutation	SNP	C	C	T	rs145509852	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:129913803C>T	ENST00000368654.3	-	7	1244	c.869G>A	c.(868-870)cGt>cAt	p.R290H	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	290					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTGACTTACGCGAGACCAA	0.498000													17	42					0	0	0.038395	0	0
PXDN	7837	broad.mit.edu	37	2	1642655	1642655	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:1642655A>G	ENST00000252804.4	-	21	4219	c.4169T>C	c.(4168-4170)cTg>cCg	p.L1390P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1390					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGCATTTCCAGAACAAACTC	0.562000													11	42					0	0	0.080935	0	0
MLH1	4292	broad.mit.edu	37	3	37048514	37048514	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:37048514C>G	ENST00000231790.2	+	5	629	c.413C>G	c.(412-414)cCt>cGt	p.P138R	MLH1_ENST00000435176.1_Missense_Mutation_p.P40R|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	138					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTGAAAGCCCCTCCTAAACCA	0.373000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				14	19					0	0	0.146539	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745756	77745756	+	Silent	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:77745756T>G	ENST00000409088.3	-	3	1653	c.1239A>C	c.(1237-1239)gcA>gcC	p.A413A	LRRTM4_ENST00000409093.1_Silent_p.A413A|LRRTM4_ENST00000409911.1_Silent_p.A414A|LRRTM4_ENST00000409884.1_Silent_p.A413A|LRRTM4_ENST00000409282.1_Silent_p.A414A	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	413						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACTCTTGCTCTGCGCCAGGAA	0.473000													36	28					0	0	0.098360	0	0
CAPN10	11132	broad.mit.edu	37	2	241530316	241530316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:241530316G>T	ENST00000391984.2	+	3	554	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	CAPN10_ENST00000391982.2_Missense_Mutation_p.V120L|CAPN10_ENST00000404753.3_Missense_Mutation_p.V120L|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.V120L|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	120	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGACGCTGGGTGGAGGTGAC	0.617000													12	36					2.80697e-09	3.41796e-09	0.080935	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	5					0	0	0.038147	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95111301	95111301	+	RNA	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:95111301G>T	ENST00000469935.1	+	0	1121					NR_015340.1																						CAGAGAACTCGATTTCCACTT	0.557000													35	42					3.21399e-22	4.4466e-22	0.074837	1	0
FAM129A	116496	broad.mit.edu	37	1	184868311	184868311	+	Splice_Site	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:184868311C>T	ENST00000367511.3	-	2	380		c.e2+1			NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A						negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCATGGCTTACCTTGGTCTTC	0.393000													6	81					0	0	0.058154	0	0
PHF3	23469	broad.mit.edu	37	6	64395424	64395424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:64395424C>A	ENST00000262043.3	+	4	2141	c.1801C>A	c.(1801-1803)Cac>Aac	p.H601N	PHF3_ENST00000509330.1_Missense_Mutation_p.H601N|PHF3_ENST00000393387.1_Missense_Mutation_p.H601N			Q92576	PHF3_HUMAN	PHD finger protein 3	601					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGATAAGTCACACGCTCATCC	0.398000													11	159					2.27111e-07	2.64849e-07	0.093190	1	0
KCNN2	3781	broad.mit.edu	37	5	113698644	113698644	+	Missense_Mutation	SNP	G	G	T	rs34895620		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:113698644G>T	ENST00000512097.3	+	2	1190	c.172G>T	c.(172-174)Gct>Tct	p.A58S	KCNN2_ENST00000264773.3_Missense_Mutation_p.A58S			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	58	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGCCGCCGCCGCTGTTTCGTC	0.697000													4	0					3.09899e-07	3.60304e-07	0.047766	1	0
OR8D4	338662	broad.mit.edu	37	11	123777713	123777713	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:123777713C>T	ENST00000321355.2	+	1	605	c.575C>T	c.(574-576)aCt>aTt	p.T192I		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGCTCCAGCACTTATATTGAT	0.373000													10	108					0	0	0.058154	0	0
PSG2	5670	broad.mit.edu	37	19	43585341	43585341	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:43585341T>A	ENST00000406487.1	-	2	220	c.122A>T	c.(121-123)cAg>cTg	p.Q41L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	41	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTTTGGTGGCTGGGCTTCAAT	0.478000													44	79					0	0	0.139131	0	0
OR8H3	390152	broad.mit.edu	37	11	55890010	55890010	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:55890010C>A	ENST00000313472.3	+	1	162	c.162C>A	c.(160-162)ctC>ctA	p.L54L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCCTGGACCTCCAGCTTCACA	0.433000													60	308					7.1157e-29	1.0098e-28	0.139131	1	0
ZEB2	9839	broad.mit.edu	37	2	145157042	145157042	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:145157042A>G	ENST00000558170.2	-	8	2896	c.1712T>C	c.(1711-1713)aTg>aCg	p.M571T	ZEB2_ENST00000409487.3_Missense_Mutation_p.M571T|ZEB2_ENST00000539609.3_Missense_Mutation_p.M547T|ZEB2_ENST00000303660.4_Missense_Mutation_p.M571T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	571						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTTCTCAATCATTTTGTCATC	0.408000													26	86					0	0	0.091800	0	0
SUN3	256979	broad.mit.edu	37	7	48035729	48035729	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:48035729C>G	ENST00000453192.2	-	8	799	c.556G>C	c.(556-558)Gaa>Caa	p.E186Q	SUN3_ENST00000412142.1_Missense_Mutation_p.E98Q|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.E198Q|SUN3_ENST00000297325.4_Missense_Mutation_p.E198Q			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	198						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCCCAGCTTCAATGATGGAG	0.303000													14	78					0	0	0.119110	0	0
CNNM4	26504	broad.mit.edu	37	2	97464940	97464940	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:97464940G>T	ENST00000377075.2	+	4	1926	c.1828G>T	c.(1828-1830)Gac>Tac	p.D610Y	CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.D97Y	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	610					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TAAGCCGGCCGACTACTTCAT	0.592000													32	54					6.19805e-25	8.69981e-25	0.080422	1	0
TEX10	54881	broad.mit.edu	37	9	103109584	103109584	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:103109584G>A	ENST00000374902.4	-	3	461	c.285C>T	c.(283-285)caC>caT	p.H95H	TEX10_ENST00000535814.1_Silent_p.H98H|TEX10_ENST00000537512.1_Silent_p.H30H	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	95						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTTTGAAAGGTGTGCATCAA	0.388000													56	174					0	0	0.139131	0	0
HOOK3	84376	broad.mit.edu	37	8	42823227	42823227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:42823227G>A	ENST00000307602.4	+	11	1192	c.992G>A	c.(991-993)gGt>gAt	p.G331D		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	331					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGACCTTGGTGATTTAAGG	0.358000			T	RET	papillary thyroid								19	40					0	0	0.049695	0	0
LPHN3	23284	broad.mit.edu	37	4	62679530	62679530	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:62679530A>C	ENST00000512091.1	+	8	1946	c.1199A>C	c.(1198-1200)cAg>cCg	p.Q400P	LPHN3_ENST00000508946.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000506720.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000507164.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000509896.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000506746.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000511324.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000507625.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000514591.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000514157.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000504896.1_Missense_Mutation_p.Q400P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	400					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						tccacagggcaggcacatcat	0.363000													8	8					0	0	0.069234	0	0
MTIF2	4528	broad.mit.edu	37	2	55470638	55470638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:55470638C>T	ENST00000394600.3	-	13	2214	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	MTIF2_ENST00000403721.1_Missense_Mutation_p.R493Q|MTIF2_ENST00000263629.4_Missense_Mutation_p.R493Q	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	493					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTCTAAAAACCGTAGAATTGA	0.343000													47	77					0	0	0.139131	0	0
EZH1	2145	broad.mit.edu	37	17	40858050	40858050	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:40858050C>A	ENST00000428826.2	-	16	1935	c.1814G>T	c.(1813-1815)tGc>tTc	p.C605F	EZH1_ENST00000585893.1_Missense_Mutation_p.C565F|EZH1_ENST00000592743.1_Missense_Mutation_p.C605F|EZH1_ENST00000590078.1_Missense_Mutation_p.C535F|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000435174.1_Missense_Mutation_p.C466F|EZH1_ENST00000415827.2_Missense_Mutation_p.C596F			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	605	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGGATGCTGCAGTTTTTACA	0.537000													6	12					0.00116845	0.00121569	0.021553	1	0
EPN3	55040	broad.mit.edu	37	17	48618421	48618421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:48618421C>G	ENST00000268933.3	+	7	1826	c.1247C>G	c.(1246-1248)cCt>cGt	p.P416R	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.P444R	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	416						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCCGACACACCTGGTAAGAAG	0.627000													4	33					0	0	0.009096	0	0
DRD5	1816	broad.mit.edu	37	4	9784478	9784478	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:9784478C>A	ENST00000304374.2	+	1	1221	c.825C>A	c.(823-825)agC>agA	p.S275R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	275					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.S275R(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCCGGAGCAGCGCAGCCTGCG	0.637000													4	30					0.00909568	0.00941269	0.009096	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351331	118351331	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118351331C>A	ENST00000528052.1	+	3	169	c.98C>A	c.(97-99)cCc>cAc	p.P33H	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.P33H|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.P33H|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.P33H			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	33					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GACACTGAGCCCTGGGGCGGG	0.522000													29	87					7.26314e-15	9.50364e-15	0.125774	1	0
PCDHA13	56136	broad.mit.edu	37	5	140262396	140262396	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:140262396C>T	ENST00000289272.2	+	1	543	c.543C>T	c.(541-543)gaC>gaT	p.D181D	PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.D181D|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTTTGGACGCACAAAACA	0.433000													7	42					0	0	0.029380	0	0
ASTN2	23245	broad.mit.edu	37	9	119567939	119567939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:119567939G>A	ENST00000313400.4	-	13	2468	c.2368C>T	c.(2368-2370)Caa>Taa	p.Q790*	ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Q786*|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.Q739*|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	790						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTTGGCCTTGGTTCACATGC	0.498000													52	65					0	0	0.139131	0	0
CBLN4	140689	broad.mit.edu	37	20	54575848	54575848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:54575848C>G	ENST00000064571.2	-	2	1647	c.347G>C	c.(346-348)aGa>aCa	p.R116T		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	116	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AATTCCTTTTCTTGGTGCTAC	0.333000													22	63					0	0	0.076483	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752641	14752641	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:14752641A>C	ENST00000358984.4	+	2	478	c.298A>C	c.(298-300)Aat>Cat	p.N100H	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.N100H	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	100										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GTGCCAGCTTAATGTCCTTGA	0.433000													13	13					0	0	0.119110	0	0
RYR3	6263	broad.mit.edu	37	15	34021144	34021144	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:34021144G>T	ENST00000389232.4	+	47	7190	c.7120G>T	c.(7120-7122)Ggc>Tgc	p.G2374C	RYR3_ENST00000415757.3_Missense_Mutation_p.G2374C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2374	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGCGTTTATGGCATTAAGGA	0.463000													9	12					1.12685e-05	1.2499e-05	0.047766	1	0
TTN	7273	broad.mit.edu	37	2	179654130	179654130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179654130G>A	ENST00000589042.1	-	13	2257	c.2033C>T	c.(2032-2034)aCt>aTt	p.T678I	TTN_ENST00000360870.5_Missense_Mutation_p.T678I|TTN_ENST00000342175.6_Missense_Mutation_p.T632I|TTN_ENST00000460472.2_Missense_Mutation_p.T632I|TTN_ENST00000591111.1_Missense_Mutation_p.T678I|TTN_ENST00000359218.5_Missense_Mutation_p.T632I|TTN_ENST00000342992.6_Missense_Mutation_p.T678I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	678							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTAGCCATAGTTTCTCTAGT	0.373000													35	64					0	0	0.074837	0	0
PAX1	5075	broad.mit.edu	37	20	21687085	21687085	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:21687085A>G	ENST00000398485.2	+	2	350	c.296A>G	c.(295-297)tAt>tGt	p.Y99C	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.Y75C	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	99	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GAGCAGACGTATGGCGAGGTG	0.672000													12	34					0	0	0.105934	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41450419	41450419	+	RNA	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:41450419C>T	ENST00000599198.1	+	0	1202					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TACACCATCCCCAAGGTAAGA	0.522000													3	10					0	0	0.115264	0	0
ZNF831	128611	broad.mit.edu	37	20	57781960	57781960	+	Splice_Site	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:57781960G>C	ENST00000371030.2	+	3	3876	c.3875_splice	c.e3-1	p.R1292_splice		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1292						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCTTCTACAGGTACAAAGGGA	0.547000													63	214					0	0	0.139131	0	0
BAZ1A	11177	broad.mit.edu	37	14	35262044	35262044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:35262044G>A	ENST00000360310.1	-	12	2014	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BAZ1A_ENST00000358716.4_Nonsense_Mutation_p.Q483*|BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.Q483*	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	483	DDT.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GCTATTGCCTGGAAGATTGCA	0.398000													16	87					0	0	0.146539	0	0
GALNT13	114805	broad.mit.edu	37	2	155295167	155295167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:155295167C>T	ENST00000392825.3	+	12	2026	c.1459C>T	c.(1459-1461)Ctc>Ttc	p.L487F	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.L487F|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	487	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTTTCTAGACTCAATGGACC	0.318000													15	88					0	0	0.033300	0	0
IPO9	55705	broad.mit.edu	37	1	201821282	201821282	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:201821282A>G	ENST00000361565.4	+	5	634	c.565A>G	c.(565-567)Att>Gtt	p.I189V	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	189					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGCTCCTGTCATTCTCCCAGA	0.403000													10	41					0	0	0.080935	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183779	11183779	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:11183779C>T	ENST00000390675.2	-	1	227	c.156G>A	c.(154-156)gcG>gcA	p.A52A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	52					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.A52A(1)		kidney(1)|lung(6)	7						CTCTGGAGACCGCCAGAGCAG	0.378000													41	131					0	0	0.098360	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468365	72468365	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:72468365C>G	ENST00000373208.1	+	4	701	c.701C>G	c.(700-702)cCc>cGc	p.P234R	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P234R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	234					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGAGACCTTCCCAACCTGCTG	0.637000													10	32					0	0	0.069234	0	0
IL1RAP	3556	broad.mit.edu	37	3	190366326	190366326	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:190366326G>T	ENST00000412504.2	+	11	1797	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.K515N|IL1RAP_ENST00000439062.1_Missense_Mutation_p.K515N|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000072516.3_Missense_Mutation_p.K515N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	515	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAGAGCTGAAGAGGGCTAAGA	0.498000													11	97					4.36969e-10	5.40609e-10	0.105934	1	0
VCPIP1	80124	broad.mit.edu	37	8	67578251	67578251	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:67578251A>T	ENST00000310421.4	-	1	1201	c.943T>A	c.(943-945)Tct>Act	p.S315T		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	315	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATCACCAGAGCTTCTCATG	0.468000													32	54					0	0	0.050027	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140537185	140537185	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:140537185C>G	ENST00000539533.1	+	1	1609	c.1609C>G	c.(1609-1611)Cgc>Ggc	p.R537G																								CGCCTCAGACCGCGGTTCTCC	0.652000													35	24					0	0	0.059317	0	0
LRP1B	53353	broad.mit.edu	37	2	141709504	141709504	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:141709504G>T	ENST00000389484.3	-	19	3864	c.2893C>A	c.(2893-2895)Cca>Aca	p.P965T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	965					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACAAGTTGGGAATTCTGTG	0.398000										TSP Lung(27;0.18)			7	30					8.12818e-05	8.83797e-05	0.029380	1	0
FRG1BP	284802	broad.mit.edu	37	20	29632694	29632694	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:29632694G>T	ENST00000278882.3	+	8	889	c.509G>T	c.(508-510)gGa>gTa	p.G170V	FRG1B_ENST00000358464.4_Missense_Mutation_p.G170V																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAGAAAGATGGATTTTTGCAT	0.318000													40	579					1.21353e-23	1.69106e-23	0.139131	1	0
PRDM9	56979	broad.mit.edu	37	5	23522455	23522455	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:23522455G>T	ENST00000296682.3	+	7	733	c.551G>T	c.(550-552)cGa>cTa	p.R184L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATAGCCTGCGAGAAAGAAAG	0.458000										HNSCC(3;0.000094)			45	38					5.2432e-18	7.10132e-18	0.139131	1	0
RGP1	9827	broad.mit.edu	37	9	35750932	35750932	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:35750932G>T	ENST00000378078.4	+	5	574	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	RGP1_ENST00000456972.2_Missense_Mutation_p.V185F	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	145										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCCAGCGTGTCAACTCCCC	0.562000													58	18					1.08141e-31	1.55176e-31	0.139131	1	0
EPPK1	83481	broad.mit.edu	37	8	144940192	144940192	+	Silent	SNP	C	C	G	rs6982684		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:144940192C>G	ENST00000525985.1	-	2	7301	c.7230G>C	c.(7228-7230)acG>acC	p.T2410T				P58107	EPIPL_HUMAN	epiplakin 1	2410						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATAGGAGCCCCGTCTCAGGGT	0.577000													5	26					0	0	0.014758	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460424	160460424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:160460424C>A	ENST00000368059.3	-	4	767	c.698G>T	c.(697-699)gGg>gTg	p.G233V	SLAMF6_ENST00000368055.1_Missense_Mutation_p.G122V|SLAMF6_ENST00000368057.3_Missense_Mutation_p.G233V	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	233						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TATGCATATCCCAGAAACCAT	0.368000													19	39					5.35267e-07	6.14919e-07	0.043863	1	0
ZCWPW2	152098	broad.mit.edu	37	3	28520395	28520395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:28520395G>T	ENST00000383768.2	+	5	771	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	ZCWPW2_ENST00000421010.1_Nonsense_Mutation_p.E195*			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	195							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCAAAGACTGGAAATGTGCTG	0.299000													3	29					0.000602214	0.000631671	0.014758	1	0
AVL9	23080	broad.mit.edu	37	7	32598671	32598671	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:32598671A>T	ENST00000318709.4	+	10	1031	c.810A>T	c.(808-810)tcA>tcT	p.S270S	AVL9_ENST00000404479.1_Silent_p.S270S|AVL9_ENST00000409301.1_Silent_p.S270S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	270						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGATGTTTCACATACCAACT	0.463000													18	31					0	0	0.049695	0	0
SYT4	6860	broad.mit.edu	37	18	40853629	40853629	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:40853629C>T	ENST00000255224.3	-	2	1133	c.765G>A	c.(763-765)ggG>ggA	p.G255G	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.G237G	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	255	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTAGAACTTCCCCAATGATAT	0.353000													23	12					0	0	0.069288	0	0
KRT6C	286887	broad.mit.edu	37	12	52863216	52863216	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:52863216C>G	ENST00000252250.6	-	8	1485	c.1438G>C	c.(1438-1440)Ggc>Cgc	p.G480R		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	480	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGTCCAACGCCTTCGCCATTC	0.597000													3	38					0	0	0.115264	0	0
RIPK4	54101	broad.mit.edu	37	21	43187145	43187145	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:43187145C>A	ENST00000352483.2	-	1	121	c.57G>T	c.(55-57)gcG>gcT	p.A19A	RIPK4_ENST00000332512.3_Silent_p.A19A			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	19						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACTCGCCCGCGTCGAAGG	0.711000													9	10					0.0581538	0.0595421	0.058154	1	0
ADAM21	8747	broad.mit.edu	37	14	70924226	70924226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:70924226G>C	ENST00000603540.1	+	2	268	c.10G>C	c.(10-12)Gat>Cat	p.D4H	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.D4H	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	4					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATGGCAGTGGATGGGACCCT	0.537000													16	186					0	0	0.033300	0	0
TTC31	64427	broad.mit.edu	37	2	74719855	74719855	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:74719855G>C	ENST00000233623.5	+	12	1251	c.1244G>C	c.(1243-1245)tGc>tCc	p.C415S	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	415							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CTCCGCTCTTGCCTTCTCCAC	0.597000													21	62					0	0	0.076483	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273626	139273626	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:139273626C>T	ENST00000298532.2	-	21	3021	c.2653G>A	c.(2653-2655)Ggc>Agc	p.G885S		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	885					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCCGGGGGCCGGTTGAAGCC	0.687000													5	5					0	0	0.014758	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764235	77764235	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:77764235A>T	ENST00000521891.2	+	10	5526	c.5078A>T	c.(5077-5079)cAa>cTa	p.Q1693L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1648L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1667L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1648L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1648	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCACCAGCACAAATTCAGATG	0.423000										HNSCC(33;0.089)			17	55					0	0	0.049695	0	0
AMOTL2	51421	broad.mit.edu	37	3	134089875	134089875	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:134089875C>A	ENST00000514516.1	-	2	753	c.575G>T	c.(574-576)cGt>cTt	p.R192L	AMOTL2_ENST00000422605.2_Missense_Mutation_p.R134L|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R134L|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R134L	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	134										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CGGGGCCCCACGGGGATCTCG	0.687000													11	7					0.00010058	0.000109056	0.093190	1	0
KATNAL2	83473	broad.mit.edu	37	18	44579299	44579299	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:44579299A>T	ENST00000245121.5	+	0	149				KATNAL2_ENST00000356157.7_Missense_Mutation_p.L57F|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2							cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AACTGGGGTTACGACGGTTTG	0.323000													30	17					0	0	0.125774	0	0
SCN11A	11280	broad.mit.edu	37	3	38949584	38949584	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:38949584A>C	ENST00000302328.3	-	10	1527	c.1329T>G	c.(1327-1329)agT>agG	p.S443R	SCN11A_ENST00000456224.3_Missense_Mutation_p.S443R|SCN11A_ENST00000444237.2_Missense_Mutation_p.S443R|SCN11A_ENST00000450244.1_Missense_Mutation_p.S443R	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	443					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGTAAGTGAACTTCTGTCAA	0.388000													24	31					0	0	0.099896	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131633	150131633	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:150131633T>A	ENST00000369124.4	+	6	1423	c.1145T>A	c.(1144-1146)cTg>cAg	p.L382Q	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.L199Q|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.L348Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	382	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGAGACCTGTACAGACAG	0.622000													7	13					0	0	0.029380	0	0
OR7A17	26333	broad.mit.edu	37	19	14991735	14991735	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:14991735C>A	ENST00000327462.2	-	1	529	c.433G>T	c.(433-435)Gtt>Ttt	p.V145F		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GATGCCAGAACCAGGAGTCCA	0.502000													22	42					2.89027e-11	3.62222e-11	0.069288	1	0
COL5A3	50509	broad.mit.edu	37	19	10107183	10107183	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:10107183C>A	ENST00000264828.3	-	13	1433	c.1348G>T	c.(1348-1350)Gca>Tca	p.A450S	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	450	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGCCGCCTGCAAACTGGAAC	0.612000													8	33					5.18039e-06	5.77928e-06	0.038147	1	0
EHBP1	23301	broad.mit.edu	37	2	63176055	63176055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:63176055G>T	ENST00000263991.5	+	14	2661	c.2179G>T	c.(2179-2181)Gac>Tac	p.D727Y	EHBP1_ENST00000431489.1_Missense_Mutation_p.D692Y|EHBP1_ENST00000405015.3_Missense_Mutation_p.D692Y|EHBP1_ENST00000405289.1_Missense_Mutation_p.D692Y|EHBP1_ENST00000354487.3_Missense_Mutation_p.D692Y	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	727						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCAAACTCTAGACATCGGTAG	0.353000													24	33					2.27525e-19	3.10335e-19	0.091800	1	0
LRRC48	83450	broad.mit.edu	37	17	17910396	17910396	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:17910396A>G	ENST00000313838.8	+	13	1640	c.1261A>G	c.(1261-1263)Atc>Gtc	p.I421V	LRRC48_ENST00000399187.1_Missense_Mutation_p.I421V|LRRC48_ENST00000399182.1_Missense_Mutation_p.I421V|LRRC48_ENST00000584166.1_Missense_Mutation_p.I421V|LRRC48_ENST00000411504.2_Missense_Mutation_p.I421V	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	421						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GGAGATCTCTATCAGCACCCT	0.647000													10	14					0	0	0.058154	0	0
FCRL4	83417	broad.mit.edu	37	1	157556137	157556137	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:157556137G>C	ENST00000271532.1	-	6	1091	c.956C>G	c.(955-957)aCc>aGc	p.T319S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	319	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGAGAATGTGGTATCCCCTGT	0.617000													15	37					0	0	0.132662	0	0
FAM65B	9750	broad.mit.edu	37	6	24861201	24861201	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:24861201C>A	ENST00000259698.4	-	8	803	c.628_splice	c.e8+1	p.G210_splice	FAM65B_ENST00000540914.1_Splice_Site_p.G210_splice|FAM65B_ENST00000538035.1_Splice_Site_p.G239_splice|FAM65B_ENST00000378023.4_Splice_Site_p.G210_splice|FAM65B_ENST00000510784.2_Splice_Site_p.G244_splice	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	210					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AAAATAATACCTTTCATCTTG	0.428000													6	3					0.00198382	0.00205848	0.029380	1	0
OR2T12	127064	broad.mit.edu	37	1	248458823	248458823	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248458823T>C	ENST00000317996.1	-	1	57	c.58A>G	c.(58-60)Aga>Gga	p.R20G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGGTGGGCTCTGGTGTGGTTA	0.468000													31	47					0	0	0.050027	0	0
PDE9A	5152	broad.mit.edu	37	21	44195393	44195393	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:44195393A>G	ENST00000291539.6	+	20	1832	c.1772A>G	c.(1771-1773)gAc>gGc	p.D591G	PDE9A_ENST00000328862.6_Missense_Mutation_p.D565G|PDE9A_ENST00000398229.3_Missense_Mutation_p.D457G|PDE9A_ENST00000398225.3_Missense_Mutation_p.D550G|PDE9A_ENST00000398236.3_Missense_Mutation_p.D505G|PDE9A_ENST00000349112.3_Missense_Mutation_p.D463G|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398232.3_Missense_Mutation_p.D524G|PDE9A_ENST00000398227.3_Missense_Mutation_p.D431G|PDE9A_ENST00000398234.3_Missense_Mutation_p.D490G|PDE9A_ENST00000539837.1_Missense_Mutation_p.D463G|PDE9A_ENST00000398224.3_Missense_Mutation_p.D464G|PDE9A_ENST00000335440.6_Missense_Mutation_p.D489G|PDE9A_ENST00000335512.4_Missense_Mutation_p.D531G|PDE9A_ENST00000380328.2_Missense_Mutation_p.D538G	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	591					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CTTCCAGGAGACTGTGCCTGA	0.587000													32	57					0	0	0.074837	0	0
FGD1	2245	broad.mit.edu	37	X	54492197	54492197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:54492197C>T	ENST00000375135.3	-	7	2162	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	477	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCTCCACGGCCCGGTCAAAG	0.542000													17	4					0	0	0.038395	0	0
SYNE2	23224	broad.mit.edu	37	14	64468757	64468757	+	Silent	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:64468757A>G	ENST00000358025.3	+	29	3974	c.3744A>G	c.(3742-3744)ggA>ggG	p.G1248G	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.G1248G|SYNE2_ENST00000554584.1_Silent_p.G1248G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1248					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCATCCAGGGATTTCATCTCA	0.418000													94	99					0	0	0.139131	0	0
FN1	2335	broad.mit.edu	37	2	216235085	216235085	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:216235085A>G	ENST00000354785.4	-	41	7154	c.6785T>C	c.(6784-6786)aTa>aCa	p.I2262T	FN1_ENST00000359671.1_Missense_Mutation_p.I2171T|FN1_ENST00000357867.4_Missense_Mutation_p.I1961T|FN1_ENST00000357009.2_Intron|FN1_ENST00000346544.3_Missense_Mutation_p.I2051T|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.I2140T|FN1_ENST00000446046.1_Missense_Mutation_p.I2115T|FN1_ENST00000432072.2_Missense_Mutation_p.I2052T|FN1_ENST00000421182.1_Missense_Mutation_p.I2025T|FN1_ENST00000323926.6_Missense_Mutation_p.I2231T|FN1_ENST00000356005.4_Missense_Mutation_p.I2081T|FN1_ENST00000443816.1_Missense_Mutation_p.I2050T			P02751	FINC_HUMAN	fibronectin 1	2171	Fibrin-binding 2.|Fibronectin type-I 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCTCCACTATGACGTTGTA	0.502000													12	30					0	0	0.093190	0	0
ATP10A	57194	broad.mit.edu	37	15	25962006	25962006	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:25962006G>T	ENST00000356865.6	-	9	1758	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	549					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCGCCACGGCTAGGCTCT	0.587000													12	52					0.000219431	0.000235935	0.119110	1	0
CREBBP	1387	broad.mit.edu	37	16	3781826	3781826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:3781826G>A	ENST00000262367.5	-	29	5650	c.4841C>T	c.(4840-4842)tCc>tTc	p.S1614F	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1576F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1614	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGGTCATTGGACACGTTGGG	0.557000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						19	52					0	0	0.038395	0	0
SPAG5	10615	broad.mit.edu	37	17	26906469	26906469	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:26906469C>A	ENST00000321765.5	-	18	3251	c.2919G>T	c.(2917-2919)atG>atT	p.M973I		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	973					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCATAATACTCATTTCTGCCA	0.488000													59	69					5.86059e-21	8.05049e-21	0.139131	1	0
BICC1	80114	broad.mit.edu	37	10	60562844	60562844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:60562844G>A	ENST00000373886.3	+	15	2027	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	BICC1_ENST00000263103.1_Missense_Mutation_p.D301N	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	675					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CAGCAGCACTGACAGGTTGCT	0.473000													9	13					0	0	0.047766	0	0
C12orf40	283461	broad.mit.edu	37	12	40041680	40041680	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:40041680G>T	ENST00000324616.5	+	6	625	c.471G>T	c.(469-471)gtG>gtT	p.V157V	C12orf40_ENST00000398716.1_Silent_p.V80V|C12orf40_ENST00000405531.3_Silent_p.V157V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	157										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTTTTCAGTGGAGTTACCTT	0.383000													8	32					0.000157383	0.000170168	0.038147	1	0
RBP5	83758	broad.mit.edu	37	12	7280932	7280932	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:7280932C>T	ENST00000266560.3	-	2	322	c.156G>A	c.(154-156)gtG>gtA	p.V52V	RBP5_ENST00000542370.1_Silent_p.V52V	NM_031491.2	NP_113679.1	P82980	RET5_HUMAN	retinol binding protein 5, cellular	52						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	TGAGCGTCCTCACCGTCATGT	0.577000													19	75					0	0	0.055883	0	0
PHIP	55023	broad.mit.edu	37	6	79711634	79711634	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:79711634T>A	ENST00000275034.4	-	17	2028	c.1861A>T	c.(1861-1863)Atg>Ttg	p.M621L		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	621					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTTACTCCCATCTGAGGGATG	0.398000													22	13					0	0	0.076483	0	0
DPP10	57628	broad.mit.edu	37	2	116497324	116497324	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:116497324T>A	ENST00000410059.1	+	9	1187	c.707T>A	c.(706-708)cTg>cAg	p.L236Q	DPP10_ENST00000409163.1_Missense_Mutation_p.L186Q|DPP10_ENST00000393147.2_Missense_Mutation_p.L240Q|DPP10_ENST00000310323.8_Missense_Mutation_p.L229Q|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	236					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAGGAACTCCTGCATTCTCAC	0.458000													37	42					0	0	0.074837	0	0
DTX4	23220	broad.mit.edu	37	11	58949291	58949291	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:58949291C>T	ENST00000227451.3	+	2	395	c.291C>T	c.(289-291)aaC>aaT	p.N97N	DTX4_ENST00000532982.1_5'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	97	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGTGGGAGAACGACAATGGCT	0.617000													13	43					0	0	0.132662	0	0
C7orf50	84310	broad.mit.edu	37	7	1040142	1040142	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:1040142C>T	ENST00000397098.3	-	4	1295	c.369G>A	c.(367-369)caG>caA	p.Q123Q	C7orf50_ENST00000397100.2_Silent_p.Q123Q|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Silent_p.Q123Q			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	123							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GGAGCCACGTCTGCCTCGTCT	0.597000													6	3					0	0	0.029380	0	0
AMOT	154796	broad.mit.edu	37	X	112033827	112033827	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:112033827C>A	ENST00000371959.3	-	7	2109	c.2110G>T	c.(2110-2112)Gct>Tct	p.A704S	AMOT_ENST00000371962.1_Missense_Mutation_p.A472S|AMOT_ENST00000304758.1_Missense_Mutation_p.A295S|AMOT_ENST00000524145.1_Missense_Mutation_p.A704S|AMOT_ENST00000371958.1_Missense_Mutation_p.A472S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	704					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TACCTCTGAGCAGCCACAGTT	0.428000													77	48					9.61239e-26	1.35911e-25	0.139131	1	0
KCNB2	9312	broad.mit.edu	37	8	73848742	73848742	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:73848742T>C	ENST00000523207.1	+	3	1740	c.1152T>C	c.(1150-1152)taT>taC	p.Y384Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	384					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGTTGGCTATGGTGACATTT	0.453000													23	101					0	0	0.069288	0	0
GLUD1	2746	broad.mit.edu	37	10	88854150	88854150	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:88854150T>C	ENST00000277865.4	-	1	473	c.377A>G	c.(376-378)gAc>gGc	p.D126G		NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	126					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCAGGAGCCGTCGTCGCGCCG	0.697000													7	17					0	0	0.029380	0	0
UTP20	27340	broad.mit.edu	37	12	101767436	101767436	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:101767436C>A	ENST00000261637.4	+	54	7196	c.7022C>A	c.(7021-7023)aCg>aAg	p.T2341K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2341					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.T2341M(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GACTCTGCCACGTGCAAAAAG	0.438000													13	28					2.27111e-07	2.64849e-07	0.093190	1	0
ZNF132	7691	broad.mit.edu	37	19	58945629	58945629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945629C>G	ENST00000254166.3	-	3	1582	c.1182G>C	c.(1180-1182)caG>caC	p.Q394H		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	394						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGTGAACTTTCTGATGCCGAA	0.478000													17	55					0	0	0.146539	0	0
PTPRC	5788	broad.mit.edu	37	1	198713288	198713288	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:198713288A>T	ENST00000367376.2	+	26	2968	c.2797A>T	c.(2797-2799)Agg>Tgg	p.R933W	PTPRC_ENST00000348564.6_Missense_Mutation_p.R774W|PTPRC_ENST00000352140.3_Missense_Mutation_p.R885W|PTPRC_ENST00000442510.2_Missense_Mutation_p.R935W|PTPRC_ENST00000594404.1_Missense_Mutation_p.R772W	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	933					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CATGAAGAAAAGGGATCCACC	0.373000													10	26					0	0	0.069234	0	0
ZNF132	7691	broad.mit.edu	37	19	58945609	58945609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945609C>G	ENST00000254166.3	-	3	1602	c.1202G>C	c.(1201-1203)aGa>aCa	p.R401T		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	401						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTCATAAGGTCTTACCTGTGT	0.473000													17	55					0	0	0.146539	0	0
NUP214	8021	broad.mit.edu	37	9	134090708	134090708	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:134090708A>T	ENST00000359428.5	+	31	5846	c.5702A>T	c.(5701-5703)aAc>aTc	p.N1901I	NUP214_ENST00000451030.1_Missense_Mutation_p.N1902I|NUP214_ENST00000411637.2_Missense_Mutation_p.N1891I|NUP214_ENST00000483497.2_Missense_Mutation_p.N727I			P35658	NU214_HUMAN	nucleoporin 214kDa	1901	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCAACAAAAACCCATTCAGC	0.517000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								40	39					0	0	0.117977	0	0
NDOR1	27158	broad.mit.edu	37	9	140109611	140109611	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:140109611C>G	ENST00000371521.4	+	9	1213	c.1130C>G	c.(1129-1131)cCc>cGc	p.P377R	NDOR1_ENST00000344894.5_Missense_Mutation_p.P377R|NDOR1_ENST00000427047.2_Missense_Mutation_p.P343R|NDOR1_ENST00000458322.2_Missense_Mutation_p.P377R	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	377	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	p.P377L(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GACCTCATCCCCGTTATCCGG	0.667000													8	10					0	0	0.038147	0	0
NR3C2	4306	broad.mit.edu	37	4	149356316	149356316	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:149356316A>T	ENST00000355292.3	-	2	2059	c.1697T>A	c.(1696-1698)cTg>cAg	p.L566Q	NR3C2_ENST00000344721.4_Missense_Mutation_p.L566Q|NR3C2_ENST00000511528.1_Missense_Mutation_p.L566Q|NR3C2_ENST00000358102.3_Missense_Mutation_p.L566Q|NR3C2_ENST00000512865.1_Missense_Mutation_p.L566Q|NR3C2_ENST00000342437.4_Missense_Mutation_p.L566Q			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	566	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCTAGACGACAGGTCGCCGTG	0.413000													22	53					0	0	0.062417	0	0
CD1E	913	broad.mit.edu	37	1	158324270	158324270	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:158324270G>C	ENST00000368160.3	+	2	162	c.162G>C	c.(160-162)gaG>gaC	p.E54D	CD1E_ENST00000368167.3_Missense_Mutation_p.E54D|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.E54D|CD1E_ENST00000368156.1_Missense_Mutation_p.E54D|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.E54D|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.E54D|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.E52D|CD1E_ENST00000368165.3_Missense_Mutation_p.E54D|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	54					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACACAGTGAGGGCTCAGGAT	0.572000													16	46					0	0	0.132662	0	0
CUL3	8452	broad.mit.edu	37	2	225365205	225365205	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:225365205C>A	ENST00000264414.4	-	11	1824		c.e11-1		CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409096.1_Splice_Site|CUL3_ENST00000409777.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAAGATACCTATGTAAAAC	0.428000													17	57					1.62849e-17	2.19789e-17	0.146539	1	0
TRIM22	10346	broad.mit.edu	37	11	5730527	5730527	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:5730527G>A	ENST00000379965.3	+	8	1423	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	382	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ATAAAAGGAAGAGCTCTGGGT	0.378000													13	44					0	0	0.105934	0	0
OR2T4	127074	broad.mit.edu	37	1	248525375	248525375	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248525375C>G	ENST00000366475.1	+	1	493	c.493C>G	c.(493-495)Cct>Gct	p.P165A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCCGTTACCCTGTCCTCAT	0.522000													33	130					0	0	0.050027	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952351	95952351	+	Silent	SNP	C	C	T	rs141483665		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:95952351C>T	ENST00000342697.4	-	3	617	c.210G>A	c.(208-210)ccG>ccA	p.P70P	TP53INP1_ENST00000378776.4_Silent_p.P70P|TP53INP1_ENST00000448464.2_Silent_p.P70P|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	70					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					CAAGAGATGCCGGTAAACAGG	0.473000													20	20					0	0	0.055883	0	0
SLC35F1	222553	broad.mit.edu	37	6	118596758	118596758	+	Silent	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:118596758A>G	ENST00000360388.4	+	5	975	c.774A>G	c.(772-774)gcA>gcG	p.A258A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	258					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTTTGGAGCATTTTTCAGTG	0.383000													10	50					0	0	0.069234	0	0
STARD8	9754	broad.mit.edu	37	X	67938280	67938280	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:67938280C>A	ENST00000252336.6	+	5	1656	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	STARD8_ENST00000374599.3_Silent_p.T508T|STARD8_ENST00000374597.3_Silent_p.T428T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	428					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGGAACCCACCTTTGCCTCTA	0.622000													6	6					5.18039e-06	5.77928e-06	0.038147	1	0
DCAF5	8816	broad.mit.edu	37	14	69542127	69542127	+	Splice_Site	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:69542127T>C	ENST00000341516.5	-	7	1028	c.879_splice	c.e7-1	p.Y294_splice	DCAF5_ENST00000556847.1_Splice_Site_p.Y212_splice|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Splice_Site_p.Y293_splice|DCAF5_ENST00000554215.1_Splice_Site_p.Y212_splice	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	294						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CGAAAGGATATACTGTTGGAA	0.308000													40	101					0	0	0.092188	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176015	140176015	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:140176015T>A	ENST00000526136.1	+	1	1466	c.1466T>A	c.(1465-1467)cTg>cAg	p.L489Q	PCDHA2_ENST00000520672.2_Missense_Mutation_p.L489Q|PCDHA2_ENST00000378132.1_Missense_Mutation_p.L489Q|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACGCGCTGGTGTCCTAC	0.657000													23	42					0	0	0.054565	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	RNA	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:1593386A>C	ENST00000436493.2	-	0	239																											CTGGCCATTCACGTGCCTCAG	0.597000													3	21					0	0	0.115264	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43833759	43833759	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:43833759T>A	ENST00000389420.3	-	17	2403	c.2404A>T	c.(2404-2406)Aat>Tat	p.N802Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N802Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	802	Spacer.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTGCGTTATTTGATCCACTG	0.299000													8	3					0	0	0.038147	0	0
SLC2A14	144195	broad.mit.edu	37	12	7973850	7973850	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:7973850C>T	ENST00000543909.1	-	13	1764	c.1005G>A	c.(1003-1005)gcG>gcA	p.A335A	SLC2A14_ENST00000431042.2_Silent_p.A312A|SLC2A14_ENST00000396589.2_Silent_p.A335A|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000340749.5_Silent_p.A312A|SLC2A14_ENST00000535295.1_Silent_p.A226A|SLC2A14_ENST00000539924.1_Silent_p.A350A|SLC2A14_ENST00000542546.1_Silent_p.A226A			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAACCACACCCGCGCTGATGG	0.413000													68	62					0	0	0.139131	0	0
ERCC5	2073	broad.mit.edu	37	13	103514530	103514530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr13:103514530C>G	ENST00000355739.4	+	8	2454	c.1031C>G	c.(1030-1032)aCt>aGt	p.T344S	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.N769K	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTCCAAGAACTTTACTAGCT	0.512000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	67					0	0	0.093190	0	0
C11orf42	160298	broad.mit.edu	37	11	6231257	6231257	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:6231257C>T	ENST00000316375.2	+	2	300	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	84										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAAGCCTCCTGGAGCAGGC	0.612000													15	10					0	0	0.132662	0	0
QSOX1	5768	broad.mit.edu	37	1	180151443	180151443	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:180151443C>A	ENST00000367602.3	+	6	815	c.741C>A	c.(739-741)tcC>tcA	p.S247S	QSOX1_ENST00000367600.5_Silent_p.S247S			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	247					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTCTGTCTCCCGAGTCCCCG	0.602000													28	69					1.39806e-14	1.82314e-14	0.134883	1	0
FSIP2	401024	broad.mit.edu	37	2	186678713	186678713	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:186678713C>A	ENST00000343098.5	+	18	20536	c.20536C>A	c.(20536-20538)Cca>Aca	p.P6846T	FSIP2_ENST00000424728.1_Missense_Mutation_p.P6757T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATGGCCACACCAAAGACGAT	0.433000													10	41					1.58986e-06	1.80496e-06	0.069234	1	0
KCNK1	3775	broad.mit.edu	37	1	233750265	233750265	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:233750265C>T	ENST00000366621.3	+	1	516	c.348C>T	c.(346-348)tcC>tcT	p.S116S		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	116						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCGTGCTCTCCACCACAGGTA	0.706000													3	10					0	0	0.115264	0	0
COL22A1	169044	broad.mit.edu	37	8	139649040	139649040	+	Splice_Site	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:139649040T>G	ENST00000303045.6	-	48	3948		c.e48-2		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGACTTCCCTTGAAAGGAAA	0.363000										HNSCC(7;0.00092)			58	132					0	0	0.139131	0	0
FAM227B	196951	broad.mit.edu	37	15	49880219	49880219	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:49880219C>T	ENST00000299338.6	-	5	702	c.399G>A	c.(397-399)aaG>aaA	p.K133K	FAM227B_ENST00000560246.1_Silent_p.K133K|FAM227B_ENST00000561064.1_Silent_p.K133K|FAM227B_ENST00000558594.1_Silent_p.K133K	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		ATACCATTATCTTTTTTTTCT	0.269000													9	22					0	0	0.058154	0	0
ZNF112	7665	broad.mit.edu	37	19	44833219	44833219	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:44833219T>C	ENST00000354340.4	-	4	1142	c.1091A>G	c.(1090-1092)cAt>cGt	p.H364R	ZNF112_ENST00000536500.1_Missense_Mutation_p.H387R|ZNF112_ENST00000337401.4_Missense_Mutation_p.H370R	NM_013380.3	NP_037512.3			zinc finger protein 112																		GTCTAAGCTATGACTGAAGGC	0.383000													14	37					0	0	0.105934	0	0
OR2W5	441932	broad.mit.edu	37	1	247655019	247655019	+	RNA	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:247655019C>A	ENST00000522351.1	+	0	650							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTGGTAGAAGCGATTCACCTT	0.582000													24	91					7.38237e-10	9.10413e-10	0.116897	1	0
KCNG3	170850	broad.mit.edu	37	2	42720364	42720364	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:42720364G>C	ENST00000306078.1	-	1	873	c.278C>G	c.(277-279)tCc>tGc	p.S93C	KCNG3_ENST00000394973.4_Missense_Mutation_p.S93C	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	93						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GTTGTAGAAGGAGAGCTCGCA	0.647000													21	8					0	0	0.076483	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962130	73962130	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:73962130G>T	ENST00000373468.1	-	3	2913	c.2262C>A	c.(2260-2262)tcC>tcA	p.S754S	KIAA2022_ENST00000055682.5_Silent_p.S754S			Q5QGS0	K2022_HUMAN	KIAA2022	754					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAGCCTTTGAGGATTGGTTTT	0.388000													21	12					5.26018e-13	6.7681e-13	0.062417	1	0
SEMA4F	10505	broad.mit.edu	37	2	74906906	74906906	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:74906906G>T	ENST00000357877.2	+	14	2032	c.1883G>T	c.(1882-1884)tGt>tTt	p.C628F	SEMA4F_ENST00000339773.5_Missense_Mutation_p.C473F|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	628	Ig-like C2-type.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCTTATGCCTGTGAATGTCAG	0.662000													25	84					8.24728e-16	1.09397e-15	0.099896	1	0
TRAT1	50852	broad.mit.edu	37	3	108568076	108568076	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:108568076T>A	ENST00000295756.6	+	5	508	c.278T>A	c.(277-279)aTg>aAg	p.M93K	TRAT1_ENST00000426646.1_Missense_Mutation_p.M56K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	93					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GTAAATAAGATGCAGGAAGCC	0.363000													14	54					0	0	0.119110	0	0
PRDM9	56979	broad.mit.edu	37	5	23527462	23527462	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:23527462G>T	ENST00000296682.3	+	11	2447	c.2265G>T	c.(2263-2265)cgG>cgT	p.R755R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	755					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTGTGGGCGGGGCTTTCGCG	0.582000										HNSCC(3;0.000094)			35	36					2.40579e-17	3.23566e-17	0.086207	1	0
NBAS	51594	broad.mit.edu	37	2	15496497	15496497	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:15496497T>A	ENST00000281513.5	-	33	3886	c.3861A>T	c.(3859-3861)ttA>ttT	p.L1287F	NBAS_ENST00000441750.1_Missense_Mutation_p.L1167F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1287										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCTGCTCCACTAAAAGGATTA	0.453000													3	34					0	0	0.115264	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48607867	48607867	+	Missense_Mutation	SNP	C	C	A	rs138956741	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:48607867C>A	ENST00000354276.3	-	4	562	c.235G>T	c.(235-237)Gca>Tca	p.A79S	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A79S|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A79S|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A89S	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	79	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.A79T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGACCCCTGCGAGGTACGTG	0.517000													14	40					7.05477e-17	9.45535e-17	0.033300	1	0
NCBP2L	392517	broad.mit.edu	37	X	107037529	107037529	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:107037529C>A	ENST00000372379.1	+	1	79	c.79C>A	c.(79-81)Cgt>Agt	p.R27S	RP5-820B18.3_ENST00000509000.1_RNA					nuclear cap binding protein subunit 2-like											large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						GTTCAGTGGCCGTAAATTTCA	0.438000													11	4					2.27111e-07	2.64849e-07	0.093190	1	0
MUC17	140453	broad.mit.edu	37	7	100681637	100681637	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:100681637A>G	ENST00000306151.4	+	3	7004	c.6940A>G	c.(6940-6942)Act>Gct	p.T2314A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2314	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTACTTCTACTGAAGCCAG	0.483000													115	143					0	0	0.139131	0	0
AUTS2	26053	broad.mit.edu	37	7	70255697	70255697	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:70255697G>A	ENST00000342771.4	+	19	3816	c.3495G>A	c.(3493-3495)acG>acA	p.T1165T	AUTS2_ENST00000406775.2_Silent_p.T1141T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1165	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACGAGCACACGCGGCTCCACT	0.692000													14	29					0	0	0.146539	0	0
KCND2	3751	broad.mit.edu	37	7	119915648	119915648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:119915648C>G	ENST00000331113.4	+	1	1927	c.962C>G	c.(961-963)gCc>gGc	p.A321G		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	321					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AAGAGTTGTGCCTCAGAATTG	0.512000													23	35					0	0	0.099896	0	0
ZNF536	9745	broad.mit.edu	37	19	30935052	30935052	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:30935052G>A	ENST00000355537.3	+	2	730	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGCGCGAGGAGAACCGCCT	0.692000													10	13					0	0	0.058154	0	0
ROR2	4920	broad.mit.edu	37	9	94499675	94499675	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:94499675G>A	ENST00000375708.3	-	5	818	c.620C>T	c.(619-621)aCa>aTa	p.T207I	ROR2_ENST00000375715.1_Missense_Mutation_p.T67I|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	207	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTCCTACCTGTGATTCGGTT	0.522000													27	37					0	0	0.116897	0	0
RRBP1	6238	broad.mit.edu	37	20	17600950	17600950	+	Silent	SNP	C	C	T	rs138279227		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:17600950C>T	ENST00000377813.1	-	18	3876	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	RRBP1_ENST00000246043.4_Silent_p.S1191S|RRBP1_ENST00000455029.2_Silent_p.S532S|RRBP1_ENST00000377807.2_Silent_p.S758S|RRBP1_ENST00000360807.4_Silent_p.S758S			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1191					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.S1191S(1)|p.S758S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ATACCTGGTCCGAACTTTCAA	0.488000													27	85					0	0	0.134883	0	0
CCDC9	26093	broad.mit.edu	37	19	47761913	47761913	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:47761913G>T	ENST00000221922.6	+	3	323	c.101G>T	c.(100-102)cGc>cTc	p.R34L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	34										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCATCCGGCGCTACCAGGTG	0.567000													10	27					9.70103e-10	1.19255e-09	0.069234	1	0
EXPH5	23086	broad.mit.edu	37	11	108381350	108381350	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:108381350G>A	ENST00000265843.4	-	6	4994	c.4884C>T	c.(4882-4884)ggC>ggT	p.G1628G	EXPH5_ENST00000428840.1_Silent_p.G1552G|EXPH5_ENST00000443411.1_Silent_p.G1440G|EXPH5_ENST00000525344.1_Silent_p.G1621G	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1628					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATGGTCAAAGCCAGATCTGC	0.488000													22	16					0	0	0.069288	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948183	68948183	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:68948183C>T	ENST00000456315.2	-	8	1422	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	436					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.E436D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTGGATGCCTCTTTACTTG	0.373000													70	45					0	0	0.139131	0	0
ZYX	7791	broad.mit.edu	37	7	143079743	143079743	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:143079743G>A	ENST00000392910.2	+	0	443				ZYX_ENST00000449423.2_Intron|ZYX_ENST00000322764.5_Missense_Mutation_p.D156N|ZYX_ENST00000477373.1_Intron			Q15942	ZYX_HUMAN	zyxin						cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CTCACTGCTGGATGACATGAC	0.527000													104	147					0	0	0.139131	0	0
CAPZB	832	broad.mit.edu	37	1	19712012	19712012	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:19712012C>A	ENST00000264203.3	-	4	773	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W	CAPZB_ENST00000401084.2_Missense_Mutation_p.G68W|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000433834.1_Missense_Mutation_p.G97W|CAPZB_ENST00000375142.1_Missense_Mutation_p.G68W|CAPZB_ENST00000375144.1_Missense_Mutation_p.G56W|CAPZB_ENST00000264202.6_Missense_Mutation_p.G68W			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	68					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TAGGAGTCCCCATCTCTGTTG	0.557000													11	20					0.0692343	0.0706996	0.069234	1	0
FLG	2312	broad.mit.edu	37	1	152283555	152283555	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152283555A>T	ENST00000368799.1	-	3	3842	c.3807T>A	c.(3805-3807)agT>agA	p.S1269R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1269	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGCTAACACTGGATCCCT	0.552000									Ichthyosis				71	95					0	0	0.139131	0	0
DSG3	1830	broad.mit.edu	37	18	29054239	29054239	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:29054239A>T	ENST00000257189.4	+	15	2340	c.2257A>T	c.(2257-2259)Act>Tct	p.T753S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	753					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGGAGCAGCCACTGGAGTTGG	0.537000													47	47					0	0	0.139131	0	0
MACROD2	140733	broad.mit.edu	37	20	14066362	14066362	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:14066362A>G	ENST00000217246.4	+	3	654	c.259A>G	c.(259-261)Ata>Gta	p.I87V	MACROD2_ENST00000310348.4_Missense_Mutation_p.I87V	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	87	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGTAGATGCTATAGTCAATGC	0.313000													6	25					0	0	0.038147	0	0
TTN	7273	broad.mit.edu	37	2	179582094	179582094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179582094G>A	ENST00000589042.1	-	88	25591	c.25367C>T	c.(25366-25368)cCt>cTt	p.P8456L	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8139L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7212L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8139	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAAAGAAAGGAGGCACTTC	0.403000													11	41					0	0	0.093190	0	0
FAM47C	442444	broad.mit.edu	37	X	37028482	37028482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:37028482C>T	ENST00000358047.3	+	1	2051	c.1999C>T	c.(1999-2001)Ccc>Tcc	p.P667S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	667										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCCCCCGGAGCC	0.642000													14	9					0	0	0.119110	0	0
P2RY1	5028	broad.mit.edu	37	3	152553781	152553781	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:152553781C>A	ENST00000305097.3	+	1	1046	c.210C>A	c.(208-210)agC>agA	p.S70R		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	70					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGGGCAACAGCGTGGCCATCT	0.537000													6	121					0.00116845	0.00121569	0.021553	1	0
ZBTB14	7541	broad.mit.edu	37	18	5291112	5291112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:5291112C>T	ENST00000357006.4	-	4	1433	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	ZBTB14_ENST00000400143.3_Missense_Mutation_p.M365I	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CTTTGTCACACATGTGGCACG	0.463000													27	99					0	0	0.099896	0	0
TTN	7273	broad.mit.edu	37	2	179516662	179516662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179516662C>T	ENST00000589042.1	-	205	39552	c.39328G>A	c.(39328-39330)Gag>Aag	p.E13110K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11603K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10676K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11463							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGGAGGCTCTTCTAGGGCA	0.483000													5	13					0	0	0.021553	0	0
LPHN3	23284	broad.mit.edu	37	4	62679532	62679532	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:62679532G>T	ENST00000512091.1	+	8	1948	c.1201G>T	c.(1201-1203)Gca>Tca	p.A401S	LPHN3_ENST00000508946.1_Missense_Mutation_p.A401S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A469S|LPHN3_ENST00000508693.1_Missense_Mutation_p.A469S|LPHN3_ENST00000514996.1_Missense_Mutation_p.A401S|LPHN3_ENST00000507164.1_Missense_Mutation_p.A469S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A469S|LPHN3_ENST00000506746.1_Missense_Mutation_p.A469S|LPHN3_ENST00000511324.1_Missense_Mutation_p.A469S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A401S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A401S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A469S|LPHN3_ENST00000514591.1_Missense_Mutation_p.A401S|LPHN3_ENST00000514157.1_Missense_Mutation_p.A401S|LPHN3_ENST00000504896.1_Missense_Mutation_p.A401S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	401					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						cacagggcaggcacatcatgg	0.358000													8	8					4.68919e-08	5.55223e-08	0.069234	1	0
ITGB8	3696	broad.mit.edu	37	7	20403258	20403258	+	Splice_Site	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:20403258A>T	ENST00000222573.3	+	2	811		c.e2-1		ITGB8_ENST00000537992.1_Splice_Site	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CCTTCATTGCAGAAGACAATA	0.368000													12	5					0	0	0.119110	0	0
PLSCR3	57048	broad.mit.edu	37	17	7297016	7297016	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:7297016G>A	ENST00000535512.1	-	6	1164	c.147C>T	c.(145-147)ttC>ttT	p.F49F	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000576362.1_Silent_p.F49F|PLSCR3_ENST00000576201.1_Silent_p.F49F|PLSCR3_ENST00000324822.11_Silent_p.F49F|PLSCR3_ENST00000574401.1_Silent_p.F49F			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	49					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				GGAAGAGGGCGAAGCCGGGAG	0.711000													5	8					0	0	0.014758	0	0
DPCD	25911	broad.mit.edu	37	10	103360557	103360557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:103360557G>C	ENST00000370151.4	+	3	257	c.208G>C	c.(208-210)Gac>Cac	p.D70H	DPCD_ENST00000370148.2_Missense_Mutation_p.D70H|DPCD_ENST00000370147.1_Missense_Mutation_p.D70H	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	70							protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						TGAAGTAGGAGACCCAGCGCC	0.572000													14	30					0	0	0.132662	0	0
ENGASE	64772	broad.mit.edu	37	17	77078233	77078233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:77078233C>G	ENST00000539857.2	+	6	983	c.568C>G	c.(568-570)Cct>Gct	p.P190A	ENGASE_ENST00000584568.1_Intron|ENGASE_ENST00000579016.1_Intron			Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	0						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCCGTCTGCACCTCAAAGGAA	0.602000													5	13					0	0	0.029380	0	0
SPATA16	83893	broad.mit.edu	37	3	172674544	172674544	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:172674544A>T	ENST00000351008.3	-	6	1187	c.1004T>A	c.(1003-1005)aTa>aAa	p.I335K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	335					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ATCAGCTCTTATTTTTGTCGC	0.368000													5	57					0	0	0.014758	0	0
GRID2	2895	broad.mit.edu	37	4	94006249	94006249	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:94006249C>A	ENST00000282020.4	+	3	606	c.348C>A	c.(346-348)caC>caA	p.H116Q	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	116					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATATCCCCCACCTCTTCATTC	0.562000													21	19					5.35356e-11	6.68762e-11	0.076483	1	0
COL11A1	1301	broad.mit.edu	37	1	103491779	103491779	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:103491779T>A	ENST00000370096.3	-	6	1202	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q297L|COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical 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)		TACCTCCGTCTGTGCTATTGT	0.443000													15	16					0	0	0.132662	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285082	55285082	+	Missense_Mutation	SNP	T	T	A	rs80323556	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:55285082T>A	ENST00000336077.6	+	3	408	c.368T>A	c.(367-369)aTa>aAa	p.I123K	KIR2DL1_ENST00000291633.7_Missense_Mutation_p.I123K|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	123					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ATCGTGATCATAGGTGAGAGT	0.512000													48	119					0	0	0.139131	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33616118	33616118	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:33616118C>A	ENST00000504830.1	-	15	2538	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E650*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	735	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGCTCCCTCAATTTCCATC	0.448000										HNSCC(64;0.19)			14	44					4.3838e-07	5.05119e-07	0.105934	1	0
BAGE2	85319	broad.mit.edu	37	21	11039019	11039019	+	RNA	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:11039019A>C	ENST00000470054.1	-	0	1184									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTTTCACACAACCCTCAATT	0.378000													13	441					0	0	0.119110	0	0
MEGF8	1954	broad.mit.edu	37	19	42863326	42863326	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:42863326A>T	ENST00000334370.4	+	30	5854	c.5219A>T	c.(5218-5220)gAc>gTc	p.D1740V	MEGF8_ENST00000251268.6_Missense_Mutation_p.D1807V	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1807						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCGGACCCTGACGAGTTCAGC	0.652000													5	6					0	0	0.014758	0	0
PXDN	7837	broad.mit.edu	37	2	1670117	1670117	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:1670117G>T	ENST00000252804.4	-	10	1210	c.1160C>A	c.(1159-1161)cCg>cAg	p.P387Q	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	387	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.P387Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTCACCCGCGGGTCAACTGG	0.632000													6	23					8.12818e-05	8.83797e-05	0.029380	1	0
GPR37	2861	broad.mit.edu	37	7	124387345	124387345	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:124387345C>T	ENST00000303921.2	-	2	1726	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	359						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCACGGAAGCGGTCTATGCA	0.488000													6	38					0	0	0.038147	0	0
OR8K3	219473	broad.mit.edu	37	11	56086376	56086376	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56086376A>T	ENST00000312711.1	+	1	594	c.594A>T	c.(592-594)atA>atT	p.I198I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGAATTGATAATTCTGATCT	0.363000													22	70					0	0	0.055883	0	0
PRKD3	23683	broad.mit.edu	37	2	37505011	37505011	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:37505011G>T	ENST00000379066.1	-	9	2056	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	PRKD3_ENST00000234179.2_Missense_Mutation_p.L432M			O94806	KPCD3_HUMAN	protein kinase D3	432	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTACTGACCAGGTTATCCCTG	0.378000													83	43					1.13027e-35	1.62792e-35	0.139131	1	0
GDAP1L1	78997	broad.mit.edu	37	20	42885797	42885797	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:42885797G>T	ENST00000342560.5	+	2	273	c.185G>T	c.(184-186)cGg>cTg	p.R62L	GDAP1L1_ENST00000372952.3_Missense_Mutation_p.R62L|GDAP1L1_ENST00000537864.1_Intron	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	62	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCAGGTGCGGCTGGTGATC	0.706000													10	3					0.000442599	0.000466785	0.058154	1	0
C8orf34	116328	broad.mit.edu	37	8	69552738	69552738	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:69552738G>T	ENST00000337103.4	+	7	2492	c.900G>T	c.(898-900)agG>agT	p.R300S	C8orf34_ENST00000518698.1_Missense_Mutation_p.R411S|C8orf34_ENST00000325233.3_Missense_Mutation_p.R69S|C8orf34_ENST00000539993.1_Missense_Mutation_p.R325S			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	325					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTGTTCAAGGTGTGCCAGGT	0.388000													24	45					7.87624e-14	1.02365e-13	0.076483	1	0
DPPA2	151871	broad.mit.edu	37	3	109026954	109026954	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:109026954T>C	ENST00000478945.1	-	6	829	c.583A>G	c.(583-585)Aga>Gga	p.R195G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	195						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAACAGCTCTTGCAGCAATT	0.438000													25	91					0	0	0.076483	0	0
OR4C16	219428	broad.mit.edu	37	11	55340052	55340052	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:55340052C>A	ENST00000314634.3	+	1	449	c.449C>A	c.(448-450)tCc>tAc	p.S150Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGGTGGGATCCTGTGTGCAT	0.498000													20	58					1.00905e-13	1.30702e-13	0.049695	1	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473086	22473086	+	RNA	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:22473086C>T	ENST00000557788.2	-	0	184																											CAGCCCCTTCCCTGGGGGCTG	0.577000													27	189					0	0	0.134883	0	0
SCN7A	6332	broad.mit.edu	37	2	167328890	167328890	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:167328890G>T	ENST00000409855.1	-	5	635	c.509C>A	c.(508-510)gCa>gAa	p.A170E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	170					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAATGATCCTGCCCAGACACC	0.343000													3	11					6.4e-05	7.01818e-05	0.115264	1	0
SLC38A11	151258	broad.mit.edu	37	2	165795989	165795989	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:165795989A>C	ENST00000303735.4	-	4	604	c.274T>G	c.(274-276)Ttg>Gtg	p.L92V	SLC38A11_ENST00000409662.1_Missense_Mutation_p.L114V|SLC38A11_ENST00000409058.1_Missense_Mutation_p.L145V|SLC38A11_ENST00000409149.3_Missense_Mutation_p.L114V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	114					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTCGGTACAAGGATAAAGGC	0.343000													9	48					0	0	0.058154	0	0
KMT2C	58508	broad.mit.edu	37	7	151945277	151945277	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:151945277A>C	ENST00000355193.2	-	14	2460	c.2242T>G	c.(2242-2244)Tgt>Ggt	p.C748G	KMT2C_ENST00000262189.6_Missense_Mutation_p.C748G					lysine (K)-specific methyltransferase 2C																		TCTTTCACACAACCCTCAATT	0.378000													4	186					0	0	0.029380	0	0
PTPRC	5788	broad.mit.edu	37	1	198687403	198687403	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:198687403T>G	ENST00000367376.2	+	14	1796	c.1625T>G	c.(1624-1626)cTt>cGt	p.L542R	PTPRC_ENST00000348564.6_Missense_Mutation_p.L383R|PTPRC_ENST00000352140.3_Missense_Mutation_p.L494R|PTPRC_ENST00000442510.2_Missense_Mutation_p.L544R|PTPRC_ENST00000594404.1_Missense_Mutation_p.L381R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	542	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAAAAGATCTTCAATATTCA	0.343000													9	8					0	0	0.058154	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	13					0	0	0.115264	0	0
TTN	7273	broad.mit.edu	37	2	179438979	179438979	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179438979G>T	ENST00000589042.1	-	326	72104	c.71880C>A	c.(71878-71880)atC>atA	p.I23960I	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.I15087I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.I14895I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.I22319I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.I15020I|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.I21392I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22319							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCAACGATATAACTGG	0.413000													10	35					1.58986e-06	1.80496e-06	0.069234	1	0
C17orf77	146723	broad.mit.edu	37	17	72588683	72588683	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:72588683C>T	ENST00000392620.1	+	3	860	c.498C>T	c.(496-498)tgC>tgT	p.C166C	C17orf77_ENST00000328023.2_Silent_p.C166C	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	166						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGAGGAGCTGCGGGATCTACT	0.587000													8	29					0	0	0.038147	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190615	39190615	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:39190615G>A	ENST00000344363.5	-	1	492	c.459C>T	c.(457-459)tgC>tgT	p.C153C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	163						extracellular region|keratin filament	structural constituent of epidermis	p.C153C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGGCGGCAGCAGGACTGTC	0.577000													11	32					0	0	0.080935	0	0
NEB	4703	broad.mit.edu	37	2	152486055	152486055	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:152486055C>A	ENST00000427231.2	-	68	10031	c.9829G>T	c.(9829-9831)Gat>Tat	p.D3277Y	NEB_ENST00000603639.1_Missense_Mutation_p.D3277Y|NEB_ENST00000604864.1_Missense_Mutation_p.D3277Y|NEB_ENST00000397345.3_Missense_Mutation_p.D3277Y|NEB_ENST00000409198.1_Missense_Mutation_p.D3034Y|NEB_ENST00000172853.10_Missense_Mutation_p.D3034Y	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3277					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTACTCACATCACTGATAACG	0.448000													12	61					5.50884e-06	6.12799e-06	0.093190	1	0
MARVELD3	91862	broad.mit.edu	37	16	71668181	71668181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:71668181G>A	ENST00000567501.1	+	3	313	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000268485.3_Silent_p.T227T			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	Arg-rich.					integral to membrane		p.T227T(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGGGCTACACGGGCATCACCA	0.557000													4	134					0	0	0.014758	0	0
CXorf57	55086	broad.mit.edu	37	X	105882844	105882844	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:105882844G>T	ENST00000372548.4	+	9	1770	c.1661G>T	c.(1660-1662)gGg>gTg	p.G554V	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	554										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCAATTCAGGGGATAATTACT	0.423000													41	22					1.07121e-22	1.48736e-22	0.092188	1	0
TRGV2	6974	broad.mit.edu	37	7	38402543	38402543	+	RNA	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:38402543T>A	ENST00000426402.2	-	0	465																											AGTTGTTCCTTGTGCTTGCGT	0.473000													13	44					0	0	0.049695	0	0
GPR64	10149	broad.mit.edu	37	X	19022897	19022897	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:19022897A>G	ENST00000354791.3	-	22	2133	c.1892T>C	c.(1891-1893)cTt>cCt	p.L631P	GPR64_ENST00000357991.3_Missense_Mutation_p.L644P|GPR64_ENST00000379878.3_Missense_Mutation_p.L631P|GPR64_ENST00000356606.4_Missense_Mutation_p.L633P|GPR64_ENST00000340581.3_Missense_Mutation_p.L528P|GPR64_ENST00000360279.4_Missense_Mutation_p.L625P|GPR64_ENST00000357544.3_Missense_Mutation_p.L617P|GPR64_ENST00000379869.3_Missense_Mutation_p.L647P|GPR64_ENST00000379873.2_Missense_Mutation_p.L647P|GPR64_ENST00000379876.1_Missense_Mutation_p.L623P			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	647					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTAGGTTACAAGAGTCACTGA	0.413000													55	30					0	0	0.139131	0	0
MFN2	9927	broad.mit.edu	37	1	12064156	12064156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:12064156C>T	ENST00000235329.5	+	12	1590	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M	MFN2_ENST00000444836.1_Missense_Mutation_p.T423M	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	423					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAGCAGATTACGGAGGAAGTG	0.493000													16	19					0	0	0.043863	0	0
TTN	7273	broad.mit.edu	37	2	179474460	179474460	+	Silent	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179474460A>G	ENST00000589042.1	-	272	51914	c.51690T>C	c.(51688-51690)atT>atC	p.I17230I	TTN_ENST00000342175.6_Silent_p.I8357I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.I8165I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.I15589I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.I8290I|TTN_ENST00000342992.6_Silent_p.I14662I|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15589	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTTCACTAATACCCGCGG	0.458000													100	107					0	0	0.139131	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154528425	154528425	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:154528425C>G	ENST00000292211.4	-	2	422	c.343G>C	c.(343-345)Gtg>Ctg	p.V115L	UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	115							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGGGGGGCACAGCAGGGTAT	0.527000													15	37					0	0	0.119110	0	0
FSCB	84075	broad.mit.edu	37	14	44976037	44976037	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:44976037A>G	ENST00000340446.4	-	1	445	c.154T>C	c.(154-156)Tct>Cct	p.S52P		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	52						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTCAGAAGATACTCTAATA	0.418000													71	173					0	0	0.139131	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33609096	33609096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:33609096C>T	ENST00000252015.2	-	9	1204	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R333K|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.R364K|TRPC4AP_ENST00000539834.1_Intron			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	372	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGCTGGGTTCTGGCTGACGT	0.552000													13	31					0	0	0.093190	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868430	39868430	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:39868430C>A	ENST00000314471.6	+	10	2445	c.1410C>A	c.(1408-1410)gaC>gaA	p.D470E	SAMD4B_ENST00000598913.1_Missense_Mutation_p.D470E|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	470							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCGACGGAGACATCCCCAGCC	0.622000													3	27					0.115264	0.117393	0.115264	1	0
IFI27L1	122509	broad.mit.edu	37	14	94568245	94568245	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:94568245G>T	ENST00000556381.1	+	5	479	c.144G>T	c.(142-144)aaG>aaT	p.K48N	IFI27L1_ENST00000393115.3_Missense_Mutation_p.K49N|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.D72Y|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000555523.1_Missense_Mutation_p.K49N|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.K49N			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	49						integral to membrane				lung(2)	2						TAGCAGCCAAGATGATGTCTA	0.592000													13	49					2.23348e-06	2.52823e-06	0.146539	1	0
TP53BP1	7158	broad.mit.edu	37	15	43784507	43784507	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:43784507T>C	ENST00000263801.3	-	2	404	c.152A>G	c.(151-153)cAg>cGg	p.Q51R	TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q56R|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q56R|TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q56R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	51					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTGTGCGTCTGGAGATTAGG	0.393000								Other conserved DNA damage response genes					3	96					0	0	0.115264	0	0
FBN1	2200	broad.mit.edu	37	15	48720627	48720627	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:48720627C>A	ENST00000316623.5	-	57	7368	c.6913G>T	c.(6913-6915)Ggg>Tgg	p.G2305W		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2305	EGF-like 40; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGCAGCGCCCATTCTCACAG	0.488000													18	15					3.32936e-07	3.8477e-07	0.038395	1	0
C12orf52	84934	broad.mit.edu	37	12	113629589	113629589	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:113629589G>A	ENST00000548278.1	+	4	1469	c.777G>A	c.(775-777)ggG>ggA	p.G259G	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.G283G|C12orf52_ENST00000549621.1_Silent_p.G259G	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	259	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GACGAGGTGGGGCCACCCAGA	0.602000													30	16					0	0	0.059317	0	0
SOCS7	30837	broad.mit.edu	37	17	36520668	36520668	+	Missense_Mutation	SNP	C	C	G	rs77546775		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:36520668C>G	ENST00000577233.1	+	3	887	c.887C>G	c.(886-888)tCt>tGt	p.S296C	SOCS7_ENST00000331159.5_Missense_Mutation_p.S296C	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	296	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GTGGACATTTCTCAGCGGGGC	0.542000													12	63					0	0	0.093190	0	0
MYOM2	9172	broad.mit.edu	37	8	2056622	2056622	+	Splice_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:2056622G>A	ENST00000262113.4	+	24	3184		c.e24+1		MYOM2_ENST00000523438.1_Splice_Site	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGAACCCCAGTAAGTAAGCC	0.473000													19	36					0	0	0.055883	0	0
XPO7	23039	broad.mit.edu	37	8	21848388	21848388	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:21848388A>G	ENST00000434536.1	+	18	2128	c.2026A>G	c.(2026-2028)Acc>Gcc	p.T676A	XPO7_ENST00000433566.4_Missense_Mutation_p.T668A|XPO7_ENST00000252512.9_Missense_Mutation_p.T667A			Q9UIA9	XPO7_HUMAN	exportin 7	667					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GTGTCGGACTACCTTCTACAC	0.403000													34	118					0	0	0.080422	0	0
ZNF132	7691	broad.mit.edu	37	19	58945685	58945685	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945685C>G	ENST00000254166.3	-	3	1526	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	376						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCAGGCACTCAAAAGGCCTT	0.458000													14	40					0	0	0.146539	0	0
DNAH5	1767	broad.mit.edu	37	5	13859686	13859686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:13859686G>A	ENST00000265104.4	-	30	4929	c.4825C>T	c.(4825-4827)Caa>Taa	p.Q1609*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1609	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCCATTTTTGAATCTGGGCT	0.378000									Kartagener syndrome				42	124					0	0	0.139131	0	0
DST	667	broad.mit.edu	37	6	56341031	56341031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:56341031C>A	ENST00000370754.5	-	92	21686	c.21687G>T	c.(21685-21687)tgG>tgT	p.W7229C	DST_ENST00000446842.2_Missense_Mutation_p.W6725C|DST_ENST00000361203.3_Missense_Mutation_p.W6940C|DST_ENST00000244364.6_Missense_Mutation_p.W4637C|DST_ENST00000370769.4_Missense_Mutation_p.W7051C|DST_ENST00000370788.2_Missense_Mutation_p.W4854C|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.W4963C			Q03001	DYST_HUMAN	dystonin	7049	EF-hand 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGTTTCAGCCCATTGCAACC	0.448000													10	8					0.000442599	0.000466785	0.058154	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110431467	110431467	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:110431467A>T	ENST00000378402.5	+	22	2606	c.2502A>T	c.(2500-2502)acA>acT	p.T834T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	834					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGACACACATCTACAATCT	0.328000										HNSCC(38;0.096)			3	22					0	0	0.009096	0	0
NLRP8	126205	broad.mit.edu	37	19	56485041	56485041	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:56485041A>T	ENST00000291971.3	+	7	2629	c.2558A>T	c.(2557-2559)cAg>cTg	p.Q853L	NLRP8_ENST00000590542.1_Intron	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	853						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AACCTTACACAGCTTACTTGT	0.498000													45	112					0	0	0.131918	0	0
PDCD11	22984	broad.mit.edu	37	10	105174888	105174888	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:105174888G>T	ENST00000369797.3	+	12	1592	c.1498G>T	c.(1498-1500)Ggg>Tgg	p.G500W		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	500	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTACCACATCGGGGATGAGGT	0.547000													7	18					5.68852e-11	7.08313e-11	0.047766	1	0
OR5P3	120066	broad.mit.edu	37	11	7847305	7847305	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:7847305C>G	ENST00000328375.1	-	1	214	c.215G>C	c.(214-216)gGg>gCg	p.G72A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGAGTACCCAATGTCTAC	0.438000													40	23					0	0	0.092188	0	0
SNPH	9751	broad.mit.edu	37	20	1285749	1285749	+	Missense_Mutation	SNP	C	C	T	rs144660706		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:1285749C>T	ENST00000381867.1	+	7	1310	c.668C>T	c.(667-669)aCg>aTg	p.T223M	SNPH_ENST00000381873.3_Missense_Mutation_p.T179M			O15079	SNPH_HUMAN	syntaphilin	179					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGCTGGAGACGCTGCTGCAC	0.587000													11	30					0	0	0.069234	0	0
NAPG	8774	broad.mit.edu	37	18	10540342	10540342	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:10540342G>C	ENST00000322897.6	+	8	521	c.452G>C	c.(451-453)cGa>cCa	p.R151P	NAPG_ENST00000542979.1_Missense_Mutation_p.R69P	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	151					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						GAACGCTTACGACAGGCAGTT	0.338000													26	38					0	0	0.134883	0	0
HRNR	388697	broad.mit.edu	37	1	152191599	152191599	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152191599C>A	ENST00000368801.2	-	3	2581	c.2506G>T	c.(2506-2508)Ggt>Tgt	p.G836C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	836					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAAGTGACCTGAGGCAGAA	0.547000													17	39					3.52763e-06	3.96987e-06	0.033300	1	0
NDST4	64579	broad.mit.edu	37	4	115858477	115858477	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:115858477G>T	ENST00000264363.2	-	5	2082	c.1404C>A	c.(1402-1404)atC>atA	p.I468I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	468	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGCTCACCATGATGCTATTGT	0.448000													36	11					4.62619e-21	6.37753e-21	0.069456	1	0
SEMA5B	54437	broad.mit.edu	37	3	122646669	122646669	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:122646669C>A	ENST00000195173.4	-	8	1121	c.818G>T	c.(817-819)cGc>cTc	p.R273L	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R327L|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R273L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	273	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGGGCAGTGCGAAGCGGTGG	0.632000													6	40					2.7689e-08	3.30896e-08	0.029380	1	0
NPFFR1	64106	broad.mit.edu	37	10	72020482	72020482	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:72020482G>A	ENST00000277942.5	-	3	343	c.336C>T	c.(334-336)gaC>gaT	p.D112D		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	112						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						ATGTGGCATTGTCGAAGGGCC	0.577000													5	2					0	0	0.014758	0	0
OR5B21	219968	broad.mit.edu	37	11	58275518	58275518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:58275518G>A	ENST00000360374.2	-	1	60	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTATCTGAAGATTGGGGTCA	0.468000													23	33					0	0	0.069288	0	0
MYF5	4617	broad.mit.edu	37	12	81110924	81110924	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:81110924T>A	ENST00000228644.3	+	1	234	c.82T>A	c.(82-84)Ttt>Att	p.F28I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	28					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CGAGGGTGAATTTGGGGACGA	0.622000													21	14					0	0	0.076483	0	0
PRKDC	5591	broad.mit.edu	37	8	48715931	48715931	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:48715931G>A	ENST00000314191.2	-	71	9911	c.9855C>T	c.(9853-9855)tgC>tgT	p.C3285C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.C3285C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3286	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCGGCTCCGGCAGTGGCTCA	0.512000								Non-homologous end-joining					28	79					0	0	0.054565	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433279	73433279	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:73433279T>G	ENST00000263666.4	-	10	2552	c.2438A>C	c.(2437-2439)gAa>gCa	p.E813A	PDZRN3_ENST00000466780.1_Missense_Mutation_p.E470A|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E470A|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E535A|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E530A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	813							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCGGGATCTTCCGTGATGGA	0.652000													17	49					0	0	0.033300	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39387522	39387522	+	Silent	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:39387522G>C	ENST00000402182.3	+	6	964	c.909G>C	c.(907-909)gtG>gtC	p.V303V	APOBEC3B_ENST00000407298.3_Silent_p.V278V|APOBEC3B_ENST00000333467.3_Silent_p.V303V			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	303					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ACACACACGTGAGACTGCGCA	0.582000													25	203					0	0	0.108266	0	0
NPAP1	23742	broad.mit.edu	37	15	24921689	24921689	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:24921689C>T	ENST00000329468.2	+	1	1149	c.675C>T	c.(673-675)gcC>gcT	p.A225A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTGAGAAGGCCCAGGCGTCTC	0.612000													8	35					0	0	0.038147	0	0
TTN	7273	broad.mit.edu	37	2	179659664	179659664	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179659664G>A	ENST00000589042.1	-	7	1454	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	TTN_ENST00000360870.5_Silent_p.A410A|TTN_ENST00000342175.6_Silent_p.A410A|TTN_ENST00000460472.2_Silent_p.A410A|TTN_ENST00000591111.1_Silent_p.A410A|TTN_ENST00000359218.5_Silent_p.A410A|TTN_ENST00000342992.6_Silent_p.A410A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	410	Ala-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCACCAGTGGCAACAGCCT	0.498000													25	44					0	0	0.099896	0	0
GXYLT2	727936	broad.mit.edu	37	3	73016867	73016867	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:73016867G>T	ENST00000389617.4	+	6	1307	c.1146G>T	c.(1144-1146)cgG>cgT	p.R382R		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	382					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						AAGCAATACGGGATGTAAGTG	0.483000													3	15					6.4e-05	7.01818e-05	0.115264	1	0
ITPR2	3709	broad.mit.edu	37	12	26774192	26774192	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:26774192T>C	ENST00000381340.3	-	26	3742	c.3326A>G	c.(3325-3327)tAc>tGc	p.Y1109C	ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1109					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GATTTGCTTGTAGTTATCTAC	0.368000													11	264					0	0	0.080935	0	0
TGM2	7052	broad.mit.edu	37	20	36776383	36776383	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:36776383C>A	ENST00000361475.2	-	5	834	c.661G>T	c.(661-663)Ggc>Tgc	p.G221C	TGM2_ENST00000536701.1_Missense_Mutation_p.G140C|TGM2_ENST00000536724.1_Missense_Mutation_p.G161C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	221					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACCACCCGGCCCACGTAGACG	0.652000													7	10					0.000442599	0.000466785	0.058154	1	0
SOCS4	122809	broad.mit.edu	37	14	55510854	55510854	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:55510854G>A	ENST00000395472.2	+	2	1427	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	SOCS4_ENST00000339298.2_Silent_p.K365K|SOCS4_ENST00000555846.1_Silent_p.K365K	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	365	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AACATTATAAGGACCCAAGCG	0.423000													44	47					0	0	0.117977	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26246948	26246948	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:26246948G>T	ENST00000244537.4	-	1	311	c.258C>A	c.(256-258)gcC>gcA	p.A86A		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	86					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTAGACCACGGCCATGGCGG	0.567000													19	8					4.35082e-09	5.28118e-09	0.055883	1	0
DNAH9	1770	broad.mit.edu	37	17	11543609	11543609	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:11543609C>T	ENST00000262442.3	+	10	1877	c.1809C>T	c.(1807-1809)aaC>aaT	p.N603N	DNAH9_ENST00000454412.2_Silent_p.N603N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	603	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCACAAGAACATGCCCACCG	0.602000													136	47					0	0	0.139131	0	0
C4orf50	389197	broad.mit.edu	37	4	5975389	5975389	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:5975389T>C	ENST00000531445.1	-	4	1873	c.1827A>G	c.(1825-1827)ccA>ccG	p.P609P	C4orf50_ENST00000324058.5_Silent_p.P135P			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	135										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ACTCTACCTCTGGGACTCCCG	0.637000													73	53					0	0	0.139131	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137901	63137901	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:63137901A>G	ENST00000279178.3	+	1	622	c.373A>G	c.(373-375)Atc>Gtc	p.I125V	SLC22A9_ENST00000310969.4_Missense_Mutation_p.I125V	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	125					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GTATGACAGAATCTCCTTCTC	0.493000													11	32					0	0	0.093190	0	0
TTN	7273	broad.mit.edu	37	2	179584098	179584098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179584098G>A	ENST00000589042.1	-	83	24243	c.24019C>T	c.(24019-24021)Cga>Tga	p.R8007*	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7690*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6763*|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7690	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGAGACTCGGCACTCCAAA	0.517000													11	68					0	0	0.069234	0	0
ZNF132	7691	broad.mit.edu	37	19	58946028	58946028	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58946028C>G	ENST00000254166.3	-	3	1183	c.783G>C	c.(781-783)gaG>gaC	p.E261D		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	261						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TAAATGGTATCTCTTCAGAGT	0.443000													16	83					0	0	0.033300	0	0
NOC2L	26155	broad.mit.edu	37	1	880925	880925	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:880925C>A	ENST00000327044.6	-	17	2075	c.2026G>T	c.(2026-2028)Gac>Tac	p.D676Y		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	676	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGGTGTCGTCCTCTTCAGAG	0.577000													42	18					4.01765e-15	5.27488e-15	0.111260	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76389225	76389225	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:76389225C>A	ENST00000307431.8	+	4	589	c.204C>A	c.(202-204)ggC>ggA	p.G68G	CNTNAP4_ENST00000476707.1_Silent_p.G72G|CNTNAP4_ENST00000377504.4_Silent_p.G68G|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.G44G	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	69	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAGCTGGTGGCTGGTCTCCAC	0.413000													6	34					5.4927e-09	6.62557e-09	0.047766	1	0
RFX2	5990	broad.mit.edu	37	19	6008155	6008155	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:6008155C>T	ENST00000303657.5	-	10	1245	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.V366I|RFX2_ENST00000592546.1_Missense_Mutation_p.V341I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGGGCCTTGACGTCGTGCAGT	0.682000													4	3					0	0	0.009096	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													6	72					0	0	0.047766	0	0
TRBC2	28638	broad.mit.edu	37	7	142498951	142498951	+	RNA	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:142498951G>T	ENST00000466254.1	+	0	227																											GATACTGCCTGAGCAGCCGCC	0.622000													19	98					1.56452e-12	1.99309e-12	0.043863	1	0
HIST3H3	8290	broad.mit.edu	37	1	228612628	228612628	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:228612628C>A	ENST00000366696.1	-	1	398	c.399G>T	c.(397-399)ggG>ggT	p.G133G		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	133					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AGGCCCGCTCCCCGCGGATAC	0.587000													16	23					3.32936e-07	3.8477e-07	0.038395	1	0
MTL5	9633	broad.mit.edu	37	11	68518104	68518104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:68518104C>A	ENST00000443940.2	-	2	111	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	MTL5_ENST00000544963.1_Missense_Mutation_p.G9W|MTL5_ENST00000255087.5_Missense_Mutation_p.G9W			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	9					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGGGCAGCCCGCCCGGCAGA	0.716000													6	10					0.000274275	0.000292459	0.047766	1	0
RBM6	10180	broad.mit.edu	37	3	50091779	50091779	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:50091779C>T	ENST00000443081.1	+	8	2167	c.1248C>T	c.(1246-1248)aaC>aaT	p.N416N	RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000422955.1_Silent_p.N26N|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000442092.1_Silent_p.N26N|RBM6_ENST00000266022.4_Silent_p.N548N			P78332	RBM6_HUMAN	RNA binding motif protein 6	548					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GTAAGGCAAACATTGGTGGGC	0.383000													27	116					0	0	0.116897	0	0
KIAA1328	57536	broad.mit.edu	37	18	34415329	34415329	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:34415329T>C	ENST00000591619.1	+	3	1001	c.215T>C	c.(214-216)gTa>gCa	p.V72A	KIAA1328_ENST00000592521.1_Missense_Mutation_p.V76A|KIAA1328_ENST00000280020.5_Missense_Mutation_p.V76A|KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000435985.2_5'UTR			Q86T90	K1328_HUMAN	KIAA1328	76										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGAGATTCAGTAGATGAACAG	0.393000													9	195					0	0	0.058154	0	0
ASMTL	8623	broad.mit.edu	37	X	1551172	1551172	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:1551172C>A	ENST00000534940.1	-	6	550	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	ASMTL_ENST00000381317.3_Missense_Mutation_p.G167W|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Missense_Mutation_p.G91W|ASMTL_ENST00000381333.4_Missense_Mutation_p.G151W	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	167	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGGGCTCCCCGCTGTGGACG	0.627000													5	5					0.014758	0.0152315	0.014758	1	0
GPR26	2849	broad.mit.edu	37	10	125447567	125447567	+	Missense_Mutation	SNP	G	G	T	rs141519939		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:125447567G>T	ENST00000284674.1	+	3	958	c.905G>T	c.(904-906)cGc>cTc	p.R302L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	302					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R302H(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CACCAGTACCGCAAAAGCTGC	0.597000													19	36					1.56452e-12	1.99309e-12	0.043863	1	0
ZNF419	79744	broad.mit.edu	37	19	58001541	58001541	+	Silent	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58001541A>C	ENST00000424930.2	+	2	289	c.60A>C	c.(58-60)acA>acC	p.T20T	ZNF419_ENST00000347466.6_Silent_p.T20T|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000518999.1_Silent_p.T20T|ZNF419_ENST00000221735.7_Silent_p.T20T|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Intron|ZNF419_ENST00000520540.1_Intron|ZNF419_ENST00000426954.2_Intron|ZNF419_ENST00000415379.2_Intron	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ACTTGCTTACAGACCATGAGG	0.498000													10	21					0	0	0.146539	0	0
DBX2	440097	broad.mit.edu	37	12	45410203	45410203	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:45410203G>T	ENST00000332700.6	-	4	1057	c.886C>A	c.(886-888)Cca>Aca	p.P296T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	296						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GAAGGTTCTGGAGAATTCTCC	0.502000													12	43					7.03913e-09	8.46449e-09	0.093190	1	0
KALRN	8997	broad.mit.edu	37	3	123987646	123987646	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:123987646G>A	ENST00000360013.3	+	5	634	c.507G>A	c.(505-507)acG>acA	p.T169T	KALRN_ENST00000460856.1_Silent_p.T169T|KALRN_ENST00000240874.3_Silent_p.T169T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	169	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.T169T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCCAGCTGACGGAGGAGTTTG	0.587000													13	59					0	0	0.119110	0	0
OR5T2	219464	broad.mit.edu	37	11	56000428	56000428	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56000428G>A	ENST00000313264.4	-	1	309	c.234C>T	c.(232-234)ctC>ctT	p.L78L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AATTTCCCATGAGAGTGAAGA	0.413000													9	77					0	0	0.069234	0	0
COL4A4	1286	broad.mit.edu	37	2	227924319	227924319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:227924319C>A	ENST00000396625.3	-	28	2392	c.2185G>T	c.(2185-2187)Gat>Tat	p.D729Y	COL4A4_ENST00000329662.7_Missense_Mutation_p.D729Y	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	729	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAACCCGGATCTCCCATGTCA	0.453000													23	71					0.000229342	0.000245905	0.062417	1	0
WDTC1	23038	broad.mit.edu	37	1	27627909	27627909	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:27627909G>A	ENST00000319394.3	+	13	1960	c.1425G>A	c.(1423-1425)ttG>ttA	p.L475L	WDTC1_ENST00000361771.3_Silent_p.L474L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	475							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GTGATGCATTGGGCCGCGACA	0.542000													23	9					0	0	0.099896	0	0
COL15A1	1306	broad.mit.edu	37	9	101800963	101800963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:101800963T>A	ENST00000375001.3	+	22	2846	c.2423T>A	c.(2422-2424)aTc>aAc	p.I808N		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	808	Nonhelical region 4 (NC4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTGATCAATATCACCCATGGA	0.478000													27	99					0	0	0.125774	0	0
C15orf43	145645	broad.mit.edu	37	15	45253759	45253759	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:45253759G>C	ENST00000340827.3	+	4	342	c.325G>C	c.(325-327)Gac>Cac	p.D109H		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	109										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TTGGGAACAAGACCAACATTT	0.284000													3	63					0	0	0.115264	0	0
MIR181B1	406955	broad.mit.edu	37	1	198828018	198828018	+	RNA	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:198828018G>T	ENST00000385240.1	-	0	93					NR_029612.1																						GGCCACAGTTGCATTCATTGT	0.388000													14	25					1.49906e-05	1.65799e-05	0.119110	1	0
ZNF528	84436	broad.mit.edu	37	19	52905281	52905281	+	Splice_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:52905281G>A	ENST00000360465.3	+	4	441	c.15_splice	c.e4+1	p.Q5_splice	ZNF528_ENST00000391788.2_5'UTR|ZNF528_ENST00000598192.1_Splice_Site_p.Q5_splice|ZNF528_ENST00000594530.1_Splice_Site_p.Q5_splice	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CCCTTACTCAGGTAAGGTAAT	0.418000													5	26					0	0	0.021553	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891043	45891043	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:45891043C>A	ENST00000007414.3	-	15	1700	c.1509G>T	c.(1507-1509)ccG>ccT	p.P503P	OSBPL7_ENST00000392507.3_Silent_p.P503P	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	503					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GAGTGTTGAGCGGCTCGTTGA	0.632000													12	39					0.0167234	0.0172139	0.105934	1	0
CHML	1122	broad.mit.edu	37	1	241798800	241798800	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:241798800C>G	ENST00000366553.1	-	1	432	c.269G>C	c.(268-270)cGc>cCc	p.R90P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	90					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATCCTTCTTGCGAAGAGTGAT	0.438000													82	148					0	0	0.139131	0	0
ATXN10	25814	broad.mit.edu	37	22	46114314	46114314	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:46114314C>T	ENST00000252934.5	+	6	934	c.669C>T	c.(667-669)ctC>ctT	p.L223L	ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Silent_p.L159L	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	223					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTACAGACCTCTTTCTGAAAA	0.418000													26	115					0	0	0.099896	0	0
PLEC	5339	broad.mit.edu	37	8	144995520	144995520	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:144995520G>A	ENST00000322810.4	-	32	9049	c.8880C>T	c.(8878-8880)cgC>cgT	p.R2960R	PLEC_ENST00000398774.2_Silent_p.R2791R|PLEC_ENST00000356346.3_Silent_p.R2809R|PLEC_ENST00000527096.1_Silent_p.R2846R|PLEC_ENST00000436759.2_Silent_p.R2850R|PLEC_ENST00000345136.3_Silent_p.R2823R|PLEC_ENST00000354958.2_Silent_p.R2801R|PLEC_ENST00000354589.3_Silent_p.R2823R|PLEC_ENST00000357649.2_Silent_p.R2827R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2960	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACGGGCACGCGGTGGCTGT	0.682000													12	101					0	0	0.105934	0	0
MUC16	94025	broad.mit.edu	37	19	9062481	9062481	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:9062481G>T	ENST00000397910.4	-	3	25168	c.24965C>A	c.(24964-24966)aCt>aAt	p.T8322N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8324	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAATTTGAAGTGGAACTGGT	0.502000													17	69					1.15088e-07	1.35439e-07	0.146539	1	0
GPATCH2L	55668	broad.mit.edu	37	14	76633013	76633013	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:76633013A>C	ENST00000261530.7	+	3	736	c.670A>C	c.(670-672)Agc>Cgc	p.S224R	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.S224R|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.S224R|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.S224R	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		CAGTGAAACCAGCAGTGTGTG	0.433000													15	31					0	0	0.043863	0	0
OR4D11	219986	broad.mit.edu	37	11	59271271	59271271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:59271271T>C	ENST00000313253.1	+	1	223	c.223T>C	c.(223-225)Tcc>Ccc	p.S75P		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGCTTCTCCTCCACAACTGC	0.488000													41	80					0	0	0.086207	0	0
LRFN5	145581	broad.mit.edu	37	14	42356347	42356347	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:42356347G>T	ENST00000554171.1	+	5	2951	c.519G>T	c.(517-519)ttG>ttT	p.L173F	LRFN5_ENST00000298119.4_Missense_Mutation_p.L173F|LRFN5_ENST00000554120.1_Missense_Mutation_p.L173F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	173						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413000										HNSCC(30;0.082)			36	19					3.93418e-24	5.50215e-24	0.069456	1	0
OR5M10	390167	broad.mit.edu	37	11	56344727	56344727	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56344727G>A	ENST00000526812.2	-	1	536	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTGTCTGAGAGAGCCCATTAA	0.468000													22	72					0	0	0.062417	0	0
SRRM2	23524	broad.mit.edu	37	16	2811881	2811881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:2811881G>A	ENST00000301740.8	+	11	1901	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	451	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGGTCCCACCGAGAGATTTCT	0.542000													4	134					0	0	0.014758	0	0
DPP10	57628	broad.mit.edu	37	2	116283477	116283477	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:116283477A>T	ENST00000410059.1	+	5	850	c.370A>T	c.(370-372)Acc>Tcc	p.T124S	DPP10_ENST00000409163.1_Missense_Mutation_p.T74S|DPP10_ENST00000393147.2_Missense_Mutation_p.T128S|DPP10_ENST00000310323.8_Missense_Mutation_p.T117S|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	124					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCTAGGTAACCTTCAAAGC	0.279000													6	41					0	0	0.021553	0	0
PNMA2	10687	broad.mit.edu	37	8	26365820	26365820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:26365820G>A	ENST00000522362.2	-	3	1346	c.452C>T	c.(451-453)gCa>gTa	p.A151V		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	151					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aggcgcatgtgccattgcctg	0.587000													10	36					0	0	0.058154	0	0
MEF2C	4208	broad.mit.edu	37	5	88047672	88047672	+	Splice_Site	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:88047672A>T	ENST00000504921.2	-	5	1262		c.e5+1		MEF2C_ENST00000340208.5_Splice_Site|MEF2C_ENST00000539796.1_Splice_Site|MEF2C_ENST00000437473.2_Splice_Site|MEF2C_ENST00000514028.1_Splice_Site|MEF2C_ENST00000424173.2_Splice_Site|MEF2C_ENST00000510942.1_Splice_Site|MEF2C_ENST00000503554.1_Splice_Site|MEF2C_ENST00000508569.1_Splice_Site|MEF2C_ENST00000514015.1_Splice_Site|MEF2C_ENST00000506554.1_Splice_Site			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C						apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATGAGGACATACCTGTGTTAC	0.453000										HNSCC(66;0.2)			43	105					0	0	0.111260	0	0
CDK12	51755	broad.mit.edu	37	17	37687138	37687138	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:37687138T>C	ENST00000447079.4	+	14	4075	c.4042T>C	c.(4042-4044)Ttc>Ctc	p.F1348L	CDK12_ENST00000430627.2_Missense_Mutation_p.F1339L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1348					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGAAACAGGGTTCAGTGCCAT	0.542000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			10	222					0	0	0.058154	0	0
AP2A1	160	broad.mit.edu	37	19	50306435	50306435	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:50306435G>T	ENST00000354293.5	+	17	2409	c.2243G>T	c.(2242-2244)cGa>cTa	p.R748L	AP2A1_ENST00000359032.5_Missense_Mutation_p.R770L	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	770					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TCAGAGTTCCGACAGAACCTG	0.617000													13	28					2.32078e-09	2.84388e-09	0.132662	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125281880	125281880	+	Splice_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:125281880G>A	ENST00000431078.1	+	9	1689	c.1324_splice	c.e9-1	p.G442_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	442	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTCTTGCAGGCAGCAACTTG	0.547000													26	27					0	0	0.125774	0	0
ZNF304	57343	broad.mit.edu	37	19	57868528	57868528	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:57868528A>T	ENST00000391705.3	+	4	1575	c.1291A>T	c.(1291-1293)Aac>Tac	p.N431Y	ZNF304_ENST00000282286.5_Missense_Mutation_p.N431Y|ZNF304_ENST00000443917.2_Missense_Mutation_p.N478Y|ZNF304_ENST00000598744.1_Missense_Mutation_p.N389Y	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTTTAGCCATAACTCTAGCCT	0.453000													11	26					0	0	0.069234	0	0
CDH18	1016	broad.mit.edu	37	5	19839081	19839081	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:19839081G>A	ENST00000507958.1	-	5	1005	c.15C>T	c.(13-15)agC>agT	p.S5S	CDH18_ENST00000502796.1_Silent_p.S5S|CDH18_ENST00000506372.1_Silent_p.S5S|CDH18_ENST00000274170.4_Silent_p.S5S|CDH18_ENST00000382275.1_Silent_p.S5S|CDH18_ENST00000511273.1_Silent_p.S5S			Q13634	CAD18_HUMAN	cadherin 18, type 2	5					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGCAAGATGTGCTAGTAATTT	0.433000													16	12					0	0	0.132662	0	0
RANBP2	5903	broad.mit.edu	37	2	109367719	109367719	+	Splice_Site	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:109367719G>T	ENST00000283195.6	+	10	1399		c.e10-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTTATTTCAGGTGCTATTCG	0.338000													77	142					8.50452e-49	1.23643e-48	0.139131	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118396416	118396416	+	RNA	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:118396416A>G	ENST00000537242.1	+	0	1083				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGAGAGTGGTAACTTTACTAG	0.393000													3	11					0	0	0.009096	0	0
POLR3A	11128	broad.mit.edu	37	10	79764513	79764513	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:79764513C>T	ENST00000372371.3	-	16	2345	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	736					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTGCTGCTGCAGCTTGCCCG	0.592000													7	15					0	0	0.029380	0	0
SLC26A11	284129	broad.mit.edu	37	17	78219976	78219976	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:78219976G>T	ENST00000361193.3	+	12	1401	c.1121G>T	c.(1120-1122)gGg>gTg	p.G374V	SLC26A11_ENST00000411502.3_Missense_Mutation_p.G374V|SLC26A11_ENST00000572725.1_Missense_Mutation_p.G374V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.G374V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	374						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTCAGTCGGGGGTGTGCACC	0.667000													22	102					3.6726e-16	4.88818e-16	0.091800	1	0
IVL	3713	broad.mit.edu	37	1	152882594	152882594	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:152882594G>A	ENST00000368764.3	+	2	385	c.321G>A	c.(319-321)caG>caA	p.Q107Q	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	107					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCAGCAGCTTAAGCAGG	0.483000													8	12					0	0	0.038147	0	0
ABCA6	23460	broad.mit.edu	37	17	67124870	67124870	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:67124870G>T	ENST00000284425.2	-	8	1183	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	337					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCCCAAAAGAGGGTAAGGAGA	0.423000													11	63					2.80697e-09	3.41169e-09	0.080935	1	0
ITGA8	8516	broad.mit.edu	37	10	15700997	15700997	+	Splice_Site	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:15700997C>T	ENST00000378076.3	-	10	1302		c.e10+1			NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AATGTCTCTACCTGTTCTCCC	0.313000													13	11					0	0	0.105934	0	0
INHA	3623	broad.mit.edu	37	2	220437168	220437168	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:220437168G>A	ENST00000243786.2	+	1	252	c.72G>A	c.(70-72)ctG>ctA	p.L24L	INHA_ENST00000489456.1_Intron	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	24					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCTGGAGCTGGCCCGGGAAC	0.662000											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	20					0	0	0.049695	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004022	75004022	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:75004022G>T	ENST00000373359.2	-	1	1057	c.865C>A	c.(865-867)Ctg>Atg	p.L289M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	289										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCACCTTCCAGGGCCTTATTA	0.473000													10	17					4.68919e-08	5.5391e-08	0.069234	1	0
TNR	7143	broad.mit.edu	37	1	175375752	175375752	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:175375752C>A	ENST00000367674.1	-	3	807	c.99G>T	c.(97-99)ctG>ctT	p.L33L	TNR_ENST00000263525.2_Silent_p.L33L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	33					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)					TGGTGACCTCCAGCTGACACT	0.537000													53	72					1.4709e-25	2.07463e-25	0.139131	1	0
LILRA1	11024	broad.mit.edu	37	19	55107222	55107222	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:55107222G>A	ENST00000251372.3	+	6	962	c.780G>A	c.(778-780)gaG>gaA	p.E260E	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	260	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGTATAAGGAGGGAGAACGTG	0.617000													25	66					0	0	0.099896	0	0
ITGA8	8516	broad.mit.edu	37	10	15649744	15649744	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:15649744G>T	ENST00000378076.3	-	17	2049	c.1696C>A	c.(1696-1698)Cgc>Agc	p.R566S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	566					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGGAAGACGCGATGAGCCTGA	0.453000													123	65					4.50961e-65	6.5816e-65	0.139131	1	0
NOTCH1	4851	broad.mit.edu	37	9	139402542	139402542	+	Silent	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:139402542C>G	ENST00000277541.6	-	21	3450	c.3375G>C	c.(3373-3375)gcG>gcC	p.A1125A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1125	EGF-like 29.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTGTTGCCCGCGTCCACAC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	33					0	0	0.038147	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995560	140995560	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:140995560T>C	ENST00000285879.4	+	4	2656	c.2370T>C	c.(2368-2370)ctT>ctC	p.L790L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	790							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGAGTCTTCTCCAAAGTT	0.567000										HNSCC(15;0.026)			69	37					0	0	0.139131	0	0
NLRP3	114548	broad.mit.edu	37	1	247593033	247593033	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:247593033C>T	ENST00000366497.2	+	5	3083	c.2303C>T	c.(2302-2304)cCt>cTt	p.P768L	NLRP3_ENST00000391828.3_Missense_Mutation_p.P768L|NLRP3_ENST00000366496.2_Missense_Mutation_p.P768L|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000336119.3_Missense_Mutation_p.P768L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	825					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCCAGCATCCTGGCTGTAAC	0.498000													11	42					0	0	0.080935	0	0
THSD7B	80731	broad.mit.edu	37	2	138414459	138414459	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:138414459G>T	ENST00000409968.1	+	23	4377	c.4199G>T	c.(4198-4200)aGa>aTa	p.R1400I	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1372I|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1403I|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGCCAGTCTAGATCAAGGACT	0.463000													17	75					6.49762e-13	8.32576e-13	0.038395	1	0
TOR1AIP2	163590	broad.mit.edu	37	1	179834003	179834003	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:179834003A>T	ENST00000553856.1	-	1	308	c.309T>A	c.(307-309)tcT>tcA	p.S103S	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR	NM_022347.3	NP_071742.1																					CAGCTACTCGAGAGTCATGTA	0.408000													26	75					0	0	0.083992	0	0
INPP5A	3632	broad.mit.edu	37	10	134563023	134563023	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:134563023G>A	ENST00000368594.3	+	10	1012	c.735G>A	c.(733-735)acG>acA	p.T245T	INPP5A_ENST00000368593.3_Silent_p.T245T	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	245					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TTCTGCAGACGCTCTGCACAA	0.602000													7	20					0	0	0.047766	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121671535	121671535	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:121671535C>T	ENST00000393386.2	+	15	5499	c.5088C>T	c.(5086-5088)gtC>gtT	p.V1696V	PTPRZ1_ENST00000449182.1_Silent_p.V836V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1696					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGATGATGTCGGAGCAATTC	0.313000													21	35					0	0	0.125774	0	0
FAM43A	131583	broad.mit.edu	37	3	194408726	194408726	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:194408726A>T	ENST00000329759.4	+	1	2105	c.1171A>T	c.(1171-1173)Agc>Tgc	p.S391C		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	391										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GGGCAGCGAGAGCTCCATCGA	0.736000													7	15					0	0	0.029380	0	0
PLCH1	23007	broad.mit.edu	37	3	155199248	155199248	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:155199248C>A	ENST00000460012.1	-	23	4834	c.4477G>T	c.(4477-4479)Gtg>Ttg	p.V1493L	PLCH1_ENST00000414191.1_Missense_Mutation_p.V1493L|PLCH1_ENST00000334686.6_Missense_Mutation_p.V1493L|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.V1531L|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1531					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGTCTTCACAGTCACGCCC	0.443000													13	73					0.000219431	0.000235639	0.119110	1	0
AKIRIN2	55122	broad.mit.edu	37	6	88387536	88387536	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr6:88387536C>A	ENST00000257787.5	-	3	1053	c.529_splice	c.e3+1	p.E177_splice		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	177					innate immune response|transcription, DNA-dependent	transcriptional repressor complex				large_intestine(4)	4						CACCTCATACCTGCAAGTTTT	0.378000													18	29					3.51602e-12	4.445e-12	0.049695	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68184095	68184095	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:68184095T>A	ENST00000262215.3	-	10	1803	c.1414A>T	c.(1414-1416)Agg>Tgg	p.R472W		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	472					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCATTTGTCCTGAAAATAGGT	0.358000													8	41					0	0	0.038147	0	0
DOCK11	139818	broad.mit.edu	37	X	117783069	117783069	+	Silent	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:117783069C>G	ENST00000276204.6	+	41	4634	c.4560C>G	c.(4558-4560)acC>acG	p.T1520T	DOCK11_ENST00000276202.7_Silent_p.T1520T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1520	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAAGGAAAACCTTTTTGAGGA	0.388000													34	18					0	0	0.059317	0	0
FIGN	55137	broad.mit.edu	37	2	164467941	164467941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:164467941C>G	ENST00000333129.3	-	3	715	c.401G>C	c.(400-402)gGa>gCa	p.G134A	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	134						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGAACTGACTCCAGCTTTGCT	0.498000													23	66					0	0	0.062417	0	0
ROBO1	6091	broad.mit.edu	37	3	78766929	78766929	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:78766929G>A	ENST00000436010.2	-	4	1642	c.645C>T	c.(643-645)gcC>gcT	p.A215A	ROBO1_ENST00000467549.1_Silent_p.A215A|ROBO1_ENST00000464233.1_Silent_p.A254A|ROBO1_ENST00000495273.1_Silent_p.A215A			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	254	Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTCAGCTCGGCTACTTCAC	0.383000													4	13					0	0	0.009096	0	0
MYH13	8735	broad.mit.edu	37	17	10248871	10248871	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:10248871G>A	ENST00000418404.3	-	13	1489	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V	MYH13_ENST00000252172.4_Silent_p.V442V|MYH13_ENST00000570743.1_Silent_p.V442V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	442	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGATGCGGGTGACCATCCACA	0.527000													46	78					0	0	0.139131	0	0
CALCR	799	broad.mit.edu	37	7	93108690	93108690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:93108690G>A	ENST00000359558.2	-	5	534	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	CALCR_ENST00000421592.1_Nonsense_Mutation_p.Q61*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.Q61*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.Q61*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.Q61*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	61					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCGGGTAACTGCTGCATTCGG	0.378000													64	149					0	0	0.139131	0	0
AGTR1	185	broad.mit.edu	37	3	148459551	148459551	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:148459551G>A	ENST00000542281.1	+	4	1175	c.729G>A	c.(727-729)atG>atA	p.M243I	AGTR1_ENST00000404754.2_Missense_Mutation_p.M243I|AGTR1_ENST00000497524.1_Missense_Mutation_p.M243I|AGTR1_ENST00000349243.3_Missense_Mutation_p.M243I|AGTR1_ENST00000418473.2_Missense_Mutation_p.M243I|AGTR1_ENST00000461609.1_Missense_Mutation_p.M243I|AGTR1_ENST00000475347.1_Missense_Mutation_p.M243I|AGTR1_ENST00000402260.1_Missense_Mutation_p.M243I|AGTR1_ENST00000474935.1_Missense_Mutation_p.M243I	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	243					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AGATAATTATGGCAATTGTGC	0.328000													72	33					0	0	0.139131	0	0
LRFN5	145581	broad.mit.edu	37	14	42356804	42356804	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:42356804A>T	ENST00000554171.1	+	5	3408	c.976A>T	c.(976-978)Aag>Tag	p.K326*	LRFN5_ENST00000554120.1_Nonsense_Mutation_p.K326*|LRFN5_ENST00000298119.4_Nonsense_Mutation_p.K326*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	326	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGAAGGGAAGCTTATTTC	0.458000										HNSCC(30;0.082)			17	154					0	0	0.038395	0	0
OR2A2	442361	broad.mit.edu	37	7	143806846	143806846	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:143806846C>A	ENST00000408979.2	+	1	240	c.171C>A	c.(169-171)ccC>ccA	p.P57P		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TTCACACACCCATGTACTTCT	0.468000													104	130					4.98208e-43	7.21542e-43	0.139131	1	0
ZNF132	7691	broad.mit.edu	37	19	58945763	58945763	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:58945763C>A	ENST00000254166.3	-	3	1448	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCACATTCATCACACTCATAA	0.418000													12	50					3.07112e-06	3.46532e-06	0.080935	1	0
TTN	7273	broad.mit.edu	37	2	179665398	179665398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:179665398G>A	ENST00000589042.1	-	4	531	c.307C>T	c.(307-309)Cca>Tca	p.P103S	TTN_ENST00000360870.5_Missense_Mutation_p.P103S|TTN_ENST00000342992.6_Missense_Mutation_p.P103S|TTN_ENST00000342175.6_Missense_Mutation_p.P103S|TTN_ENST00000591111.1_Missense_Mutation_p.P103S|TTN_ENST00000460472.2_Missense_Mutation_p.P103S|TTN_ENST00000359218.5_Missense_Mutation_p.P103S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	103							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTTGGGTGGTGCTGTCTCA	0.493000													29	34					0	0	0.125774	0	0
THSD4	79875	broad.mit.edu	37	15	72023554	72023554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:72023554C>A	ENST00000355327.3	+	10	1762	c.1628C>A	c.(1627-1629)cCa>cAa	p.P543Q	THSD4_ENST00000261862.6_Missense_Mutation_p.P543Q|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.P183Q			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	543						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACAGGAGACCAGGTAGAATC	0.557000											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	36					0.11911	0.120706	0.119110	1	0
HGF	3082	broad.mit.edu	37	7	81335729	81335729	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:81335729T>A	ENST00000222390.5	-	15	1857	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	HGF_ENST00000457544.2_Missense_Mutation_p.Y539F	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	544	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCAAGCTTCATAATCTTTCAA	0.338000													26	76					0	0	0.144211	0	0
ACAD10	80724	broad.mit.edu	37	12	112186135	112186135	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:112186135C>A	ENST00000455480.2	+	18	2770	c.2593C>A	c.(2593-2595)Cgt>Agt	p.R865S	ACAD10_ENST00000313698.4_Missense_Mutation_p.R834S|ACAD10_ENST00000392636.2_Missense_Mutation_p.R436S|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	834							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTGGATCCTCGTTGCCAACT	0.537000													42	24					2.24893e-16	3.00387e-16	0.111260	1	0
CNTN3	5067	broad.mit.edu	37	3	74411124	74411124	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:74411124G>T	ENST00000263665.6	-	10	1308	c.1281C>A	c.(1279-1281)gtC>gtA	p.V427V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	427	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATCCAAGCTGACCAGGCTGC	0.502000													7	30					5.18039e-06	5.77637e-06	0.038147	1	0
SMAP1	60682	broad.mit.edu	37	6	71570005	71570005	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr6:71570005G>T	ENST00000370455.3	+	11	1620	c.1372G>T	c.(1372-1374)Ggt>Tgt	p.G458C	B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000316999.5_Missense_Mutation_p.G431C|SMAP1_ENST00000370452.3_3'UTR	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	458					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AAGCTCATCAGGTCAGACTCT	0.498000													8	60					0.000442599	0.000466024	0.058154	1	0
MFHAS1	9258	broad.mit.edu	37	8	8750004	8750004	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:8750004C>G	ENST00000276282.6	-	1	1151	c.565G>C	c.(565-567)Gat>Cat	p.D189H		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	189								p.D189Y(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGGTTGTGATCCACGTCCAGG	0.677000													6	7					0	0	0.021553	0	0
SORCS2	57537	broad.mit.edu	37	4	7533275	7533275	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr4:7533275G>A	ENST00000507866.2	+	3	676	c.567G>A	c.(565-567)acG>acA	p.T189T	SORCS2_ENST00000329016.9_Silent_p.T17T|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	189						integral to membrane	neuropeptide receptor activity	p.T39T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTTCGGGACGTCCTACACCA	0.602000													13	10					0	0	0.093190	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989484	22989484	+	Silent	SNP	G	G	C	rs139520107		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr22:22989484G>C	ENST00000448514.1	+	3	336	c.336G>C	c.(334-336)acG>acC	p.T112T	GGTLC2_ENST00000480559.1_Silent_p.T112T			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	112					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGTGCCCGACGATCATGGTGG	0.647000													34	96					0	0	0.111260	0	0
OR5T2	219464	broad.mit.edu	37	11	56000380	56000380	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:56000380G>A	ENST00000313264.4	-	1	357	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGGGTTTGTGGAGCTGGGAAT	0.393000													6	92					0	0	0.021553	0	0
IVD	3712	broad.mit.edu	37	15	40710403	40710403	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:40710403G>T	ENST00000249760.2	+	12	1556	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	IVD_ENST00000479013.2_Missense_Mutation_p.G378W|IVD_ENST00000487418.2_Missense_Mutation_p.G408W	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	405	Substrate binding.				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GATAGGGGCTGGGACCAGCGA	0.567000													14	53					9.16793e-09	1.09667e-08	0.033300	1	0
OR2T4	127074	broad.mit.edu	37	1	248525119	248525119	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:248525119T>C	ENST00000366475.1	+	1	237	c.237T>C	c.(235-237)ctT>ctC	p.L79L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTGATCCTTCTGATACACT	0.468000													86	108					0	0	0.139131	0	0
MIS18A	54069	broad.mit.edu	37	21	33647184	33647184	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr21:33647184C>G	ENST00000290130.3	-	2	412	c.358G>C	c.(358-360)Gat>Cat	p.D120H		NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	120					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TGTTCCTTATCCACAGAAACA	0.303000													17	4					0	0	0.049695	0	0
CAND1	55832	broad.mit.edu	37	12	67699449	67699449	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:67699449A>T	ENST00000545606.1	+	10	2438	c.2001A>T	c.(1999-2001)aaA>aaT	p.K667N		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	667					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAGCTTTGAAACTGGGTACTC	0.423000													82	28					0	0	0.139131	0	0
N4BP2	55728	broad.mit.edu	37	4	40104316	40104316	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr4:40104316T>C	ENST00000261435.6	+	4	1267	c.851T>C	c.(850-852)gTa>gCa	p.V284A		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	284						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAAGCTCCTGTAGATTTGGAT	0.458000													28	15					0	0	0.059317	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647234	34647234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr18:34647234C>T	ENST00000591619.1	+	7	1732	c.946C>T	c.(946-948)Cct>Tct	p.P316S	KIAA1328_ENST00000586501.1_Missense_Mutation_p.P36S|KIAA1328_ENST00000543923.1_Missense_Mutation_p.P212S|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P36S|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P36S|KIAA1328_ENST00000280020.5_Missense_Mutation_p.P320S			Q86T90	K1328_HUMAN	KIAA1328	320										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGACAGCCATCCTACAAACAT	0.473000													12	65					0	0	0.093190	0	0
HERC3	8916	broad.mit.edu	37	4	89607922	89607922	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr4:89607922A>G	ENST00000402738.1	+	22	2782	c.2543A>G	c.(2542-2544)gAt>gGt	p.D848G	HERC3_ENST00000264345.3_Missense_Mutation_p.D848G|HERC3_ENST00000543130.1_Missense_Mutation_p.D292G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	848					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCCGGGGAGGATGTGGAGGAG	0.423000													14	17					0	0	0.038395	0	0
FAM19A2	338811	broad.mit.edu	37	12	62104166	62104166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:62104166G>A	ENST00000551449.1	-	3	317	c.139C>T	c.(139-141)Cct>Tct	p.P47S	FAM19A2_ENST00000416284.3_3'UTR|FAM19A2_ENST00000551619.1_3'UTR|FAM19A2_ENST00000550003.1_3'UTR			Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	0						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CAGCCTTGAGGATCACTTGAT	0.368000													38	66					0	0	0.092188	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995929	140995929	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:140995929C>T	ENST00000285879.4	+	4	3025	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	913	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGTGGACGAGTTGGCGC	0.488000										HNSCC(15;0.026)			58	37					0	0	0.139131	0	0
IGHM	3507	broad.mit.edu	37	14	106321207	106321207	+	RNA	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:106321207C>T	ENST00000390559.2	-	0	781																											GCCATTCTGGCGGGTCCAGGA	0.587000													4	105					0	0	0.009096	0	0
DPP10	57628	broad.mit.edu	37	2	116497324	116497324	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:116497324T>A	ENST00000410059.1	+	9	1187	c.707T>A	c.(706-708)cTg>cAg	p.L236Q	DPP10_ENST00000310323.8_Missense_Mutation_p.L229Q|DPP10_ENST00000409163.1_Missense_Mutation_p.L186Q|DPP10_ENST00000393147.2_Missense_Mutation_p.L240Q|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	236					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAGGAACTCCTGCATTCTCAC	0.458000													37	42					0	0	0.074837	0	0
CADM2	253559	broad.mit.edu	37	3	85961535	85961535	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:85961535T>G	ENST00000383699.3	+	6	1169	c.542T>G	c.(541-543)tTa>tGa	p.L181*	CADM2_ENST00000405615.2_Nonsense_Mutation_p.L174*|CADM2_ENST00000407528.2_Nonsense_Mutation_p.L172*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	172	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		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)		GTAAAATATTTAAAAGAAGAG	0.383000													3	21					0	0	0.009096	0	0
TLR4	7099	broad.mit.edu	37	9	120470905	120470905	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:120470905C>A	ENST00000355622.6	+	2	259	c.158C>A	c.(157-159)cCc>cAc	p.P53H	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Missense_Mutation_p.P13H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	53					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GACAACCTCCCCTTCTCAACC	0.433000													37	100					1.90571e-15	2.51873e-15	0.069456	1	0
UNC5B	219699	broad.mit.edu	37	10	73044575	73044575	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:73044575T>G	ENST00000335350.6	+	3	819	c.403T>G	c.(403-405)Tcc>Gcc	p.S135A	UNC5B_ENST00000373192.4_Missense_Mutation_p.S135A	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	135	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGCCTGGAGCTCCGCGGGCAC	0.677000													18	42					0	0	0.038395	0	0
TEKT3	64518	broad.mit.edu	37	17	15215750	15215750	+	Silent	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:15215750G>C	ENST00000395930.1	-	7	1113	c.927C>G	c.(925-927)ctC>ctG	p.L309L	TEKT3_ENST00000338696.2_Silent_p.L309L	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	309					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCTGGGAGCGGAGAATATTGT	0.463000													6	62					0	0	0.021553	0	0
MYOM1	8736	broad.mit.edu	37	18	3215034	3215034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr18:3215034C>T	ENST00000400569.3	-	2	521	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	MYOM1_ENST00000261606.7_Missense_Mutation_p.R63Q|MYOM1_ENST00000356443.4_Missense_Mutation_p.R63Q|RP13-270P17.2_ENST00000580139.1_RNA			P52179	MYOM1_HUMAN	myomesin 1	63						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGGACGCCCGACGGAAGGC	0.687000													9	38					0	0	0.058154	0	0
NLRP13	126204	broad.mit.edu	37	19	56423633	56423633	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:56423633T>C	ENST00000588751.1	-	5	1574	c.1550A>G	c.(1549-1551)tAc>tGc	p.Y517C	NLRP13_ENST00000342929.3_Missense_Mutation_p.Y517C			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	517	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTGAACTCGTAGAGAGAATC	0.448000													14	25					0	0	0.119110	0	0
PRG4	10216	broad.mit.edu	37	1	186276244	186276244	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:186276244A>G	ENST00000445192.2	+	7	1438	c.1393A>G	c.(1393-1395)Aag>Gag	p.K465E	PRG4_ENST00000367483.4_Missense_Mutation_p.K424E|PRG4_ENST00000367485.4_Missense_Mutation_p.K372E|PRG4_ENST00000367486.3_Missense_Mutation_p.K422E|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	465	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACTCCCAAGGAGCCTGC	0.657000													7	33					0	0	0.047766	0	0
CR1	1378	broad.mit.edu	37	1	207739242	207739242	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:207739242G>T	ENST00000367049.4	+	24	3926	c.3926G>T	c.(3925-3927)tGg>tTg	p.W1309L	CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.W859L|CR1_ENST00000400960.2_Missense_Mutation_p.W859L|CR1_ENST00000367053.1_Missense_Mutation_p.W859L|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	859	Sushi 20.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAAAGCCTTTGGAATAGCAGT	0.433000													13	57					6.31663e-08	7.43827e-08	0.132662	1	0
FAM86DP	692099	broad.mit.edu	37	3	75477026	75477026	+	RNA	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:75477026T>C	ENST00000459803.1	-	0	412					NR_024241.1																						ATGATGGCTGTGCTCTCGGAG	0.567000													7	8					0	0	0.038147	0	0
PTPRJ	5795	broad.mit.edu	37	11	48181590	48181590	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:48181590A>T	ENST00000418331.2	+	22	3899	c.3547A>T	c.(3547-3549)Aca>Tca	p.T1183S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1183	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGAGATTTCACAGTGAAAAA	0.388000													60	35					0	0	0.139131	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118215284	118215284	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:118215284G>C	ENST00000369230.3	+	5	653	c.507G>C	c.(505-507)ttG>ttC	p.L169F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	169					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GCCACAGCTTGGGAGCACACC	0.423000													3	30					0	0	0.115264	0	0
IL16	3603	broad.mit.edu	37	15	81517986	81517986	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:81517986G>T	ENST00000394660.2	+	2	606	c.246G>T	c.(244-246)gaG>gaT	p.E82D	IL16_ENST00000302987.4_Missense_Mutation_p.E82D	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	82					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCCTCGGAGGCTGCTCAAC	0.567000													6	25					8.12818e-05	8.82889e-05	0.029380	1	0
ASCC3	10973	broad.mit.edu	37	6	100964151	100964151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr6:100964151C>A	ENST00000369162.2	-	39	6324	c.5980G>T	c.(5980-5982)Gag>Tag	p.E1994*		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E1994*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGAAGGGACTCGATGGAGGTC	0.453000													43	33					5.44703e-19	7.40639e-19	0.111260	1	0
TP53	7157	broad.mit.edu	37	17	7577018	7577018	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:7577018C>A	ENST00000420246.2	-	8	1052		c.e8+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)		TGCTTGCTTACCTCGCTTAGT	0.562000		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)			69	19					3.41413e-29	4.86997e-29	0.139131	1	0
MROH9	80133	broad.mit.edu	37	1	170941012	170941012	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:170941012C>A	ENST00000367759.4	+	8	758	c.604C>A	c.(604-606)Cgg>Agg	p.R202R	MROH9_ENST00000367758.3_Silent_p.R202R	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CTACATTGCACGGTGTCAGAA	0.458000													51	135					3.19069e-20	4.36985e-20	0.139131	1	0
ZBTB14	7541	broad.mit.edu	37	18	5291107	5291107	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr18:5291107T>A	ENST00000357006.4	-	4	1438	c.1100A>T	c.(1099-1101)gAc>gTc	p.D367V	ZBTB14_ENST00000400143.3_Missense_Mutation_p.D367V	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		GAAGGCTTTGTCACACATGTG	0.468000													27	100					0	0	0.108266	0	0
OPA1	4976	broad.mit.edu	37	3	193366587	193366587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:193366587G>T	ENST00000361510.2	+	21	2173	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	OPA1_ENST00000361908.3_Nonsense_Mutation_p.E629*|OPA1_ENST00000361828.2_Nonsense_Mutation_p.E610*|OPA1_ENST00000392438.3_Nonsense_Mutation_p.E592*|OPA1_ENST00000361150.2_Nonsense_Mutation_p.E593*|OPA1_ENST00000361715.2_Nonsense_Mutation_p.E611*	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	592					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGCCTAGAATGAACTATTTGA	0.313000													19	64					3.51602e-12	4.445e-12	0.049695	1	0
LRP12	29967	broad.mit.edu	37	8	105510273	105510273	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:105510273A>T	ENST00000276654.5	-	5	615	c.507T>A	c.(505-507)gaT>gaA	p.D169E	LRP12_ENST00000424843.2_Missense_Mutation_p.D150E	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	169	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AACGAAACTGATCACAAGCAC	0.363000													27	45					0	0	0.108266	0	0
EPHA3	2042	broad.mit.edu	37	3	89156987	89156987	+	Splice_Site	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:89156987G>C	ENST00000336596.2	+	1	313		c.e1+1		EPHA3_ENST00000494014.1_Splice_Site|EPHA3_ENST00000452448.2_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3							extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCCAATGAAGGTAAGCCAGGT	0.597000										TSP Lung(6;0.00050)			14	31					0	0	0.033300	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883214	4883214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:4883214G>T	ENST00000361571.5	-	8	1811	c.1400C>A	c.(1399-1401)tCa>tAa	p.S467*	CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.S491*|CAMTA2_ENST00000348066.3_Nonsense_Mutation_p.S468*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.S470*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.S468*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.S473*	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	468					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						gggtgggggtgagggaggggg	0.612000													24	75					4.26978e-12	5.37992e-12	0.083992	1	0
MROH2B	133558	broad.mit.edu	37	5	41052600	41052600	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:41052600G>T	ENST00000399564.4	-	12	1647	c.1197C>A	c.(1195-1197)gtC>gtA	p.V399V	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ACTGGGAGAAGACATAATCAA	0.403000													13	51					7.93312e-07	9.05958e-07	0.119110	1	0
LPA	4018	broad.mit.edu	37	6	160978515	160978515	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr6:160978515A>G	ENST00000447678.1	-	30	4840	c.4720T>C	c.(4720-4722)Tgc>Cgc	p.C1574R	LPA_ENST00000316300.5_Missense_Mutation_p.C1574R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4082	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCAGATTGCAGTACTCCCAC	0.493000													39	34					0	0	0.074837	0	0
ITGA10	8515	broad.mit.edu	37	1	145533882	145533882	+	Missense_Mutation	SNP	A	A	C	rs74529007		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:145533882A>C	ENST00000369304.3	+	13	1703	c.1528A>C	c.(1528-1530)Atg>Ctg	p.M510L	ITGA10_ENST00000539363.1_Missense_Mutation_p.M367L|ITGA10_ENST00000538811.1_Missense_Mutation_p.M379L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	510					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGCCCCCATGTTCCTGGG	0.527000													4	36					0	0	0.038147	0	0
PLCG2	5336	broad.mit.edu	37	16	81942171	81942171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr16:81942171C>G	ENST00000359376.3	+	17	1922	c.1708C>G	c.(1708-1710)Ccc>Gcc	p.P570A		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	570	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGAGACCTTCCCCAATGACTA	0.592000													5	6					0	0	0.029380	0	0
CIITA	4261	broad.mit.edu	37	16	10995377	10995377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr16:10995377C>A	ENST00000324288.8	+	6	576	c.443C>A	c.(442-444)cCa>cAa	p.P148Q	CIITA_ENST00000381835.5_Missense_Mutation_p.P148Q|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	148					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCAGCCTTCCCAGAGGAGCTT	0.602000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								12	20					6.72482e-11	8.33437e-11	0.132662	1	0
SLC26A7	115111	broad.mit.edu	37	8	92365165	92365165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:92365165G>T	ENST00000276609.3	+	11	1494	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.G419*|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.G419*	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	419						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GGGACTGAAGGGAATGCTAAT	0.313000													34	61					2.19962e-31	3.14946e-31	0.104719	1	0
MKI67	4288	broad.mit.edu	37	10	129913803	129913803	+	Missense_Mutation	SNP	C	C	T	rs145509852	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:129913803C>T	ENST00000368654.3	-	7	1244	c.869G>A	c.(868-870)cGt>cAt	p.R290H	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	290					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTGACTTACGCGAGACCAA	0.498000													17	42					0	0	0.038395	0	0
PXDN	7837	broad.mit.edu	37	2	1642655	1642655	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:1642655A>G	ENST00000252804.4	-	21	4219	c.4169T>C	c.(4168-4170)cTg>cCg	p.L1390P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1390					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGCATTTCCAGAACAAACTC	0.562000													11	42					0	0	0.080935	0	0
MLH1	4292	broad.mit.edu	37	3	37048514	37048514	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:37048514C>G	ENST00000231790.2	+	5	629	c.413C>G	c.(412-414)cCt>cGt	p.P138R	MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.P40R|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	138					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTGAAAGCCCCTCCTAAACCA	0.373000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				14	19					0	0	0.146539	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745756	77745756	+	Silent	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:77745756T>G	ENST00000409088.3	-	3	1653	c.1239A>C	c.(1237-1239)gcA>gcC	p.A413A	LRRTM4_ENST00000409093.1_Silent_p.A413A|LRRTM4_ENST00000409884.1_Silent_p.A413A|LRRTM4_ENST00000409282.1_Silent_p.A414A|LRRTM4_ENST00000409911.1_Silent_p.A414A	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	413						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACTCTTGCTCTGCGCCAGGAA	0.473000													36	28					0	0	0.098360	0	0
CAPN10	11132	broad.mit.edu	37	2	241530316	241530316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:241530316G>T	ENST00000391984.2	+	3	554	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.V120L|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.V120L|CAPN10_ENST00000354082.4_Missense_Mutation_p.V120L	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	120	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGACGCTGGGTGGAGGTGAC	0.617000													12	36					2.80697e-09	3.41169e-09	0.080935	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	5					0	0	0.038147	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95111301	95111301	+	RNA	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:95111301G>T	ENST00000469935.1	+	0	1121					NR_015340.1																						CAGAGAACTCGATTTCCACTT	0.557000													35	42					3.21399e-22	4.45015e-22	0.074837	1	0
FAM129A	116496	broad.mit.edu	37	1	184868311	184868311	+	Splice_Site	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:184868311C>T	ENST00000367511.3	-	2	380		c.e2+1			NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A						negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCATGGCTTACCTTGGTCTTC	0.393000													6	81					0	0	0.058154	0	0
PHF3	23469	broad.mit.edu	37	6	64395424	64395424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr6:64395424C>A	ENST00000262043.3	+	4	2141	c.1801C>A	c.(1801-1803)Cac>Aac	p.H601N	PHF3_ENST00000393387.1_Missense_Mutation_p.H601N|PHF3_ENST00000509330.1_Missense_Mutation_p.H601N			Q92576	PHF3_HUMAN	PHD finger protein 3	601					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGATAAGTCACACGCTCATCC	0.398000													11	159					2.27111e-07	2.64148e-07	0.093190	1	0
OR8D4	338662	broad.mit.edu	37	11	123777713	123777713	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:123777713C>T	ENST00000321355.2	+	1	605	c.575C>T	c.(574-576)aCt>aTt	p.T192I		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGCTCCAGCACTTATATTGAT	0.373000													10	108					0	0	0.058154	0	0
PSG2	5670	broad.mit.edu	37	19	43585341	43585341	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:43585341T>A	ENST00000406487.1	-	2	220	c.122A>T	c.(121-123)cAg>cTg	p.Q41L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	41	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTTTGGTGGCTGGGCTTCAAT	0.478000													44	79					0	0	0.139131	0	0
OR8H3	390152	broad.mit.edu	37	11	55890010	55890010	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:55890010C>A	ENST00000313472.3	+	1	162	c.162C>A	c.(160-162)ctC>ctA	p.L54L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCCTGGACCTCCAGCTTCACA	0.433000													60	308					7.1157e-29	1.01118e-28	0.139131	1	0
ZEB2	9839	broad.mit.edu	37	2	145157042	145157042	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:145157042A>G	ENST00000558170.2	-	8	2896	c.1712T>C	c.(1711-1713)aTg>aCg	p.M571T	ZEB2_ENST00000409487.3_Missense_Mutation_p.M571T|ZEB2_ENST00000539609.3_Missense_Mutation_p.M547T|ZEB2_ENST00000303660.4_Missense_Mutation_p.M571T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	571						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTTCTCAATCATTTTGTCATC	0.408000													26	86					0	0	0.091800	0	0
SUN3	256979	broad.mit.edu	37	7	48035729	48035729	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:48035729C>G	ENST00000453192.2	-	8	799	c.556G>C	c.(556-558)Gaa>Caa	p.E186Q	SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000412142.1_Missense_Mutation_p.E98Q|SUN3_ENST00000297325.4_Missense_Mutation_p.E198Q|SUN3_ENST00000395572.2_Missense_Mutation_p.E198Q			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	198						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCCCAGCTTCAATGATGGAG	0.303000													14	78					0	0	0.119110	0	0
CNNM4	26504	broad.mit.edu	37	2	97464940	97464940	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:97464940G>T	ENST00000377075.2	+	4	1926	c.1828G>T	c.(1828-1830)Gac>Tac	p.D610Y	CNNM4_ENST00000540067.1_Missense_Mutation_p.D97Y|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	610					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TAAGCCGGCCGACTACTTCAT	0.592000													32	54					6.19805e-25	8.70953e-25	0.080422	1	0
TEX10	54881	broad.mit.edu	37	9	103109584	103109584	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:103109584G>A	ENST00000374902.4	-	3	461	c.285C>T	c.(283-285)caC>caT	p.H95H	TEX10_ENST00000537512.1_Silent_p.H30H|TEX10_ENST00000535814.1_Silent_p.H98H	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	95						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTTTGAAAGGTGTGCATCAA	0.388000													56	174					0	0	0.139131	0	0
HOOK3	84376	broad.mit.edu	37	8	42823227	42823227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:42823227G>A	ENST00000307602.4	+	11	1192	c.992G>A	c.(991-993)gGt>gAt	p.G331D		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	331					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGACCTTGGTGATTTAAGG	0.358000			T	RET	papillary thyroid								19	40					0	0	0.049695	0	0
LPHN3	23284	broad.mit.edu	37	4	62679530	62679530	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr4:62679530A>C	ENST00000512091.1	+	8	1946	c.1199A>C	c.(1198-1200)cAg>cCg	p.Q400P	LPHN3_ENST00000506746.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000506720.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000509896.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000504896.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000507164.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000514157.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000514591.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000508946.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000507625.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000511324.1_Missense_Mutation_p.Q468P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	400					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						tccacagggcaggcacatcat	0.363000													8	8					0	0	0.069234	0	0
MTIF2	4528	broad.mit.edu	37	2	55470638	55470638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:55470638C>T	ENST00000394600.3	-	13	2214	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	MTIF2_ENST00000263629.4_Missense_Mutation_p.R493Q|MTIF2_ENST00000403721.1_Missense_Mutation_p.R493Q	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	493					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTCTAAAAACCGTAGAATTGA	0.343000													47	77					0	0	0.139131	0	0
EZH1	2145	broad.mit.edu	37	17	40858050	40858050	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:40858050C>A	ENST00000428826.2	-	16	1935	c.1814G>T	c.(1813-1815)tGc>tTc	p.C605F	EZH1_ENST00000592743.1_Missense_Mutation_p.C605F|EZH1_ENST00000590078.1_Missense_Mutation_p.C535F|EZH1_ENST00000585893.1_Missense_Mutation_p.C565F|EZH1_ENST00000435174.1_Missense_Mutation_p.C466F|EZH1_ENST00000415827.2_Missense_Mutation_p.C596F|EZH1_ENST00000590783.1_5'UTR			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	605	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGGATGCTGCAGTTTTTACA	0.537000													6	12					0.00116845	0.00121339	0.021553	1	0
EPN3	55040	broad.mit.edu	37	17	48618421	48618421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:48618421C>G	ENST00000268933.3	+	7	1826	c.1247C>G	c.(1246-1248)cCt>cGt	p.P416R	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.P444R	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	416						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCCGACACACCTGGTAAGAAG	0.627000													4	33					0	0	0.009096	0	0
DRD5	1816	broad.mit.edu	37	4	9784478	9784478	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr4:9784478C>A	ENST00000304374.2	+	1	1221	c.825C>A	c.(823-825)agC>agA	p.S275R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	275					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.S275R(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCCGGAGCAGCGCAGCCTGCG	0.637000													4	30					0.00909568	0.0093939	0.009096	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351331	118351331	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:118351331C>A	ENST00000528052.1	+	3	169	c.98C>A	c.(97-99)cCc>cAc	p.P33H	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.P33H|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.P33H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.P33H|PNLIPRP1_ENST00000480870.2_3'UTR			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	33					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GACACTGAGCCCTGGGGCGGG	0.522000													29	87					7.26314e-15	9.49989e-15	0.125774	1	0
PCDHA13	56136	broad.mit.edu	37	5	140262396	140262396	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:140262396C>T	ENST00000289272.2	+	1	543	c.543C>T	c.(541-543)gaC>gaT	p.D181D	PCDHA13_ENST00000409494.1_Silent_p.D181D|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTTTGGACGCACAAAACA	0.433000													7	42					0	0	0.029380	0	0
ASTN2	23245	broad.mit.edu	37	9	119567939	119567939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:119567939G>A	ENST00000313400.4	-	13	2468	c.2368C>T	c.(2368-2370)Caa>Taa	p.Q790*	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.Q739*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Q786*			O75129	ASTN2_HUMAN	astrotactin 2	790						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTTGGCCTTGGTTCACATGC	0.498000													52	65					0	0	0.139131	0	0
CBLN4	140689	broad.mit.edu	37	20	54575848	54575848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:54575848C>G	ENST00000064571.2	-	2	1647	c.347G>C	c.(346-348)aGa>aCa	p.R116T		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	116	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AATTCCTTTTCTTGGTGCTAC	0.333000													22	63					0	0	0.076483	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752641	14752641	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr18:14752641A>C	ENST00000358984.4	+	2	478	c.298A>C	c.(298-300)Aat>Cat	p.N100H	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.N100H|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	100										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GTGCCAGCTTAATGTCCTTGA	0.433000													13	13					0	0	0.119110	0	0
RYR3	6263	broad.mit.edu	37	15	34021144	34021144	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:34021144G>T	ENST00000389232.4	+	47	7190	c.7120G>T	c.(7120-7122)Ggc>Tgc	p.G2374C	RYR3_ENST00000415757.3_Missense_Mutation_p.G2374C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2374	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGCGTTTATGGCATTAAGGA	0.463000													9	12					1.12685e-05	1.24912e-05	0.047766	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	40					0	0	0.115264	0	0
TTN	7273	broad.mit.edu	37	2	179654130	179654130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:179654130G>A	ENST00000589042.1	-	13	2257	c.2033C>T	c.(2032-2034)aCt>aTt	p.T678I	TTN_ENST00000360870.5_Missense_Mutation_p.T678I|TTN_ENST00000342992.6_Missense_Mutation_p.T678I|TTN_ENST00000342175.6_Missense_Mutation_p.T632I|TTN_ENST00000591111.1_Missense_Mutation_p.T678I|TTN_ENST00000460472.2_Missense_Mutation_p.T632I|TTN_ENST00000359218.5_Missense_Mutation_p.T632I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	678							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTAGCCATAGTTTCTCTAGT	0.373000													35	64					0	0	0.074837	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41450419	41450419	+	RNA	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:41450419C>T	ENST00000599198.1	+	0	1202					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TACACCATCCCCAAGGTAAGA	0.522000													3	10					0	0	0.115264	0	0
ZNF831	128611	broad.mit.edu	37	20	57781960	57781960	+	Splice_Site	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:57781960G>C	ENST00000371030.2	+	3	3876	c.3875_splice	c.e3-1	p.R1292_splice		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1292						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCTTCTACAGGTACAAAGGGA	0.547000													63	214					0	0	0.139131	0	0
BAZ1A	11177	broad.mit.edu	37	14	35262044	35262044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:35262044G>A	ENST00000360310.1	-	12	2014	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BAZ1A_ENST00000358716.4_Nonsense_Mutation_p.Q483*|BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.Q483*	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	483	DDT.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GCTATTGCCTGGAAGATTGCA	0.398000													16	87					0	0	0.146539	0	0
GALNT13	114805	broad.mit.edu	37	2	155295167	155295167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:155295167C>T	ENST00000392825.3	+	12	2026	c.1459C>T	c.(1459-1461)Ctc>Ttc	p.L487F	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.L487F|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	487	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTTTCTAGACTCAATGGACC	0.318000													15	88					0	0	0.033300	0	0
IPO9	55705	broad.mit.edu	37	1	201821282	201821282	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:201821282A>G	ENST00000361565.4	+	5	634	c.565A>G	c.(565-567)Att>Gtt	p.I189V	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	189					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGCTCCTGTCATTCTCCCAGA	0.403000													10	41					0	0	0.080935	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183779	11183779	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:11183779C>T	ENST00000390675.2	-	1	227	c.156G>A	c.(154-156)gcG>gcA	p.A52A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	52					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.A52A(1)		kidney(1)|lung(6)	7						CTCTGGAGACCGCCAGAGCAG	0.378000													41	131					0	0	0.098360	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468365	72468365	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:72468365C>G	ENST00000373208.1	+	4	701	c.701C>G	c.(700-702)cCc>cGc	p.P234R	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P234R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	234					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGAGACCTTCCCAACCTGCTG	0.637000													10	32					0	0	0.069234	0	0
IL1RAP	3556	broad.mit.edu	37	3	190366326	190366326	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:190366326G>T	ENST00000412504.2	+	11	1797	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.K515N|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000072516.3_Missense_Mutation_p.K515N|IL1RAP_ENST00000447382.1_Missense_Mutation_p.K515N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	515	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAGAGCTGAAGAGGGCTAAGA	0.498000													11	97					4.36969e-10	5.39785e-10	0.105934	1	0
VCPIP1	80124	broad.mit.edu	37	8	67578251	67578251	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:67578251A>T	ENST00000310421.4	-	1	1201	c.943T>A	c.(943-945)Tct>Act	p.S315T		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	315	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATCACCAGAGCTTCTCATG	0.468000													32	54					0	0	0.050027	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140537185	140537185	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:140537185C>G	ENST00000539533.1	+	1	1609	c.1609C>G	c.(1609-1611)Cgc>Ggc	p.R537G																								CGCCTCAGACCGCGGTTCTCC	0.652000													35	24					0	0	0.059317	0	0
LRP1B	53353	broad.mit.edu	37	2	141709504	141709504	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:141709504G>T	ENST00000389484.3	-	19	3864	c.2893C>A	c.(2893-2895)Cca>Aca	p.P965T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	965					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACAAGTTGGGAATTCTGTG	0.398000										TSP Lung(27;0.18)			7	30					8.12818e-05	8.82889e-05	0.029380	1	0
FRG1BP	284802	broad.mit.edu	37	20	29632694	29632694	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:29632694G>T	ENST00000278882.3	+	8	889	c.509G>T	c.(508-510)gGa>gTa	p.G170V	FRG1B_ENST00000358464.4_Missense_Mutation_p.G170V																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAGAAAGATGGATTTTTGCAT	0.318000													40	579					1.21353e-23	1.69268e-23	0.139131	1	0
PRDM9	56979	broad.mit.edu	37	5	23522455	23522455	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:23522455G>T	ENST00000296682.3	+	7	733	c.551G>T	c.(550-552)cGa>cTa	p.R184L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATAGCCTGCGAGAAAGAAAG	0.458000										HNSCC(3;0.000094)			45	38					5.2432e-18	7.10369e-18	0.139131	1	0
RGP1	9827	broad.mit.edu	37	9	35750932	35750932	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:35750932G>T	ENST00000378078.4	+	5	574	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	RGP1_ENST00000456972.2_Missense_Mutation_p.V185F	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	145										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCCAGCGTGTCAACTCCCC	0.562000													58	18					1.08141e-31	1.55426e-31	0.139131	1	0
EPPK1	83481	broad.mit.edu	37	8	144940192	144940192	+	Silent	SNP	C	C	G	rs6982684		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:144940192C>G	ENST00000525985.1	-	2	7301	c.7230G>C	c.(7228-7230)acG>acC	p.T2410T				P58107	EPIPL_HUMAN	epiplakin 1	2410						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATAGGAGCCCCGTCTCAGGGT	0.577000													5	26					0	0	0.014758	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460424	160460424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:160460424C>A	ENST00000368059.3	-	4	767	c.698G>T	c.(697-699)gGg>gTg	p.G233V	SLAMF6_ENST00000368055.1_Missense_Mutation_p.G122V|SLAMF6_ENST00000368057.3_Missense_Mutation_p.G233V	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	233						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TATGCATATCCCAGAAACCAT	0.368000													19	39					5.35267e-07	6.14987e-07	0.043863	1	0
ZCWPW2	152098	broad.mit.edu	37	3	28520395	28520395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:28520395G>T	ENST00000383768.2	+	5	771	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	ZCWPW2_ENST00000421010.1_Nonsense_Mutation_p.E195*			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	195							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCAAAGACTGGAAATGTGCTG	0.299000													3	29					0.000602214	0.000630574	0.014758	1	0
AVL9	23080	broad.mit.edu	37	7	32598671	32598671	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:32598671A>T	ENST00000318709.4	+	10	1031	c.810A>T	c.(808-810)tcA>tcT	p.S270S	AVL9_ENST00000404479.1_Silent_p.S270S|AVL9_ENST00000409301.1_Silent_p.S270S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	270						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGATGTTTCACATACCAACT	0.463000													18	31					0	0	0.049695	0	0
SYT4	6860	broad.mit.edu	37	18	40853629	40853629	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr18:40853629C>T	ENST00000255224.3	-	2	1133	c.765G>A	c.(763-765)ggG>ggA	p.G255G	SYT4_ENST00000590752.1_Silent_p.G237G|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	255	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTAGAACTTCCCCAATGATAT	0.353000													23	12					0	0	0.069288	0	0
KRT6C	286887	broad.mit.edu	37	12	52863216	52863216	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:52863216C>G	ENST00000252250.6	-	8	1485	c.1438G>C	c.(1438-1440)Ggc>Cgc	p.G480R		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	480	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGTCCAACGCCTTCGCCATTC	0.597000													3	38					0	0	0.115264	0	0
RIPK4	54101	broad.mit.edu	37	21	43187145	43187145	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr21:43187145C>A	ENST00000352483.2	-	1	121	c.57G>T	c.(55-57)gcG>gcT	p.A19A	RIPK4_ENST00000332512.3_Silent_p.A19A			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	19						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACTCGCCCGCGTCGAAGG	0.711000													9	10					0.0581538	0.0594111	0.058154	1	0
ADAM21	8747	broad.mit.edu	37	14	70924226	70924226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:70924226G>C	ENST00000603540.1	+	2	268	c.10G>C	c.(10-12)Gat>Cat	p.D4H	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.D4H	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	4					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATGGCAGTGGATGGGACCCT	0.537000													16	186					0	0	0.033300	0	0
TTC31	64427	broad.mit.edu	37	2	74719855	74719855	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:74719855G>C	ENST00000233623.5	+	12	1251	c.1244G>C	c.(1243-1245)tGc>tCc	p.C415S	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	415							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CTCCGCTCTTGCCTTCTCCAC	0.597000													21	62					0	0	0.076483	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273626	139273626	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:139273626C>T	ENST00000298532.2	-	21	3021	c.2653G>A	c.(2653-2655)Ggc>Agc	p.G885S		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	885					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCCGGGGGCCGGTTGAAGCC	0.687000													5	5					0	0	0.014758	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764235	77764235	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:77764235A>T	ENST00000521891.2	+	10	5526	c.5078A>T	c.(5077-5079)cAa>cTa	p.Q1693L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1648L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1667L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1648L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1648	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCACCAGCACAAATTCAGATG	0.423000										HNSCC(33;0.089)			17	55					0	0	0.049695	0	0
AMOTL2	51421	broad.mit.edu	37	3	134089875	134089875	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:134089875C>A	ENST00000514516.1	-	2	753	c.575G>T	c.(574-576)cGt>cTt	p.R192L	AMOTL2_ENST00000422605.2_Missense_Mutation_p.R134L|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R134L|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R134L|AMOTL2_ENST00000511759.1_Intron	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	134										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CGGGGCCCCACGGGGATCTCG	0.687000													11	7					0.00010058	0.000108938	0.093190	1	0
KATNAL2	83473	broad.mit.edu	37	18	44579299	44579299	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr18:44579299A>T	ENST00000245121.5	+	0	149				KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.L57F	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2							cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AACTGGGGTTACGACGGTTTG	0.323000													30	17					0	0	0.125774	0	0
SCN11A	11280	broad.mit.edu	37	3	38949584	38949584	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:38949584A>C	ENST00000302328.3	-	10	1527	c.1329T>G	c.(1327-1329)agT>agG	p.S443R	SCN11A_ENST00000444237.2_Missense_Mutation_p.S443R|SCN11A_ENST00000450244.1_Missense_Mutation_p.S443R|SCN11A_ENST00000456224.3_Missense_Mutation_p.S443R	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	443					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGTAAGTGAACTTCTGTCAA	0.388000													24	31					0	0	0.099896	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131633	150131633	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:150131633T>A	ENST00000369124.4	+	6	1423	c.1145T>A	c.(1144-1146)cTg>cAg	p.L382Q	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.L348Q|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.L199Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	382	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGAGACCTGTACAGACAG	0.622000													7	13					0	0	0.029380	0	0
OR7A17	26333	broad.mit.edu	37	19	14991735	14991735	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:14991735C>A	ENST00000327462.2	-	1	529	c.433G>T	c.(433-435)Gtt>Ttt	p.V145F		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GATGCCAGAACCAGGAGTCCA	0.502000													22	42					2.89027e-11	3.61762e-11	0.069288	1	0
COL5A3	50509	broad.mit.edu	37	19	10107183	10107183	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:10107183C>A	ENST00000264828.3	-	13	1433	c.1348G>T	c.(1348-1350)Gca>Tca	p.A450S	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	450	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGCCGCCTGCAAACTGGAAC	0.612000													8	33					5.18039e-06	5.77637e-06	0.038147	1	0
EHBP1	23301	broad.mit.edu	37	2	63176055	63176055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:63176055G>T	ENST00000263991.5	+	14	2661	c.2179G>T	c.(2179-2181)Gac>Tac	p.D727Y	EHBP1_ENST00000354487.3_Missense_Mutation_p.D692Y|EHBP1_ENST00000405289.1_Missense_Mutation_p.D692Y|EHBP1_ENST00000431489.1_Missense_Mutation_p.D692Y|EHBP1_ENST00000405015.3_Missense_Mutation_p.D692Y	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	727						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCAAACTCTAGACATCGGTAG	0.353000													24	33					2.27525e-19	3.10486e-19	0.091800	1	0
LRRC48	83450	broad.mit.edu	37	17	17910396	17910396	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:17910396A>G	ENST00000313838.8	+	13	1640	c.1261A>G	c.(1261-1263)Atc>Gtc	p.I421V	LRRC48_ENST00000411504.2_Missense_Mutation_p.I421V|LRRC48_ENST00000399187.1_Missense_Mutation_p.I421V|LRRC48_ENST00000584166.1_Missense_Mutation_p.I421V|LRRC48_ENST00000399182.1_Missense_Mutation_p.I421V	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	421						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GGAGATCTCTATCAGCACCCT	0.647000													10	14					0	0	0.058154	0	0
FCRL4	83417	broad.mit.edu	37	1	157556137	157556137	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:157556137G>C	ENST00000271532.1	-	6	1091	c.956C>G	c.(955-957)aCc>aGc	p.T319S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	319	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGAGAATGTGGTATCCCCTGT	0.617000													15	37					0	0	0.132662	0	0
FAM65B	9750	broad.mit.edu	37	6	24861201	24861201	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr6:24861201C>A	ENST00000259698.4	-	8	803	c.628_splice	c.e8+1	p.G210_splice	FAM65B_ENST00000510784.2_Splice_Site_p.G244_splice|FAM65B_ENST00000538035.1_Splice_Site_p.G239_splice|FAM65B_ENST00000540914.1_Splice_Site_p.G210_splice|FAM65B_ENST00000378023.4_Splice_Site_p.G210_splice	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	210					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AAAATAATACCTTTCATCTTG	0.428000													6	3					0.00198382	0.00205447	0.029380	1	0
OR2T12	127064	broad.mit.edu	37	1	248458823	248458823	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:248458823T>C	ENST00000317996.1	-	1	57	c.58A>G	c.(58-60)Aga>Gga	p.R20G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGGTGGGCTCTGGTGTGGTTA	0.468000													31	47					0	0	0.050027	0	0
PDE9A	5152	broad.mit.edu	37	21	44195393	44195393	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr21:44195393A>G	ENST00000291539.6	+	20	1832	c.1772A>G	c.(1771-1773)gAc>gGc	p.D591G	PDE9A_ENST00000335512.4_Missense_Mutation_p.D531G|PDE9A_ENST00000328862.6_Missense_Mutation_p.D565G|PDE9A_ENST00000398224.3_Missense_Mutation_p.D464G|PDE9A_ENST00000398225.3_Missense_Mutation_p.D550G|PDE9A_ENST00000380328.2_Missense_Mutation_p.D538G|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398234.3_Missense_Mutation_p.D490G|PDE9A_ENST00000398227.3_Missense_Mutation_p.D431G|PDE9A_ENST00000398229.3_Missense_Mutation_p.D457G|PDE9A_ENST00000398232.3_Missense_Mutation_p.D524G|PDE9A_ENST00000398236.3_Missense_Mutation_p.D505G|PDE9A_ENST00000335440.6_Missense_Mutation_p.D489G|PDE9A_ENST00000349112.3_Missense_Mutation_p.D463G|PDE9A_ENST00000539837.1_Missense_Mutation_p.D463G	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	591					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CTTCCAGGAGACTGTGCCTGA	0.587000													32	57					0	0	0.074837	0	0
FGD1	2245	broad.mit.edu	37	X	54492197	54492197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:54492197C>T	ENST00000375135.3	-	7	2162	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	477	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCTCCACGGCCCGGTCAAAG	0.542000													17	4					0	0	0.038395	0	0
SYNE2	23224	broad.mit.edu	37	14	64468757	64468757	+	Silent	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:64468757A>G	ENST00000358025.3	+	29	3974	c.3744A>G	c.(3742-3744)ggA>ggG	p.G1248G	SYNE2_ENST00000554584.1_Silent_p.G1248G|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.G1248G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1248					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCATCCAGGGATTTCATCTCA	0.418000													94	99					0	0	0.139131	0	0
FN1	2335	broad.mit.edu	37	2	216235085	216235085	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:216235085A>G	ENST00000354785.4	-	41	7154	c.6785T>C	c.(6784-6786)aTa>aCa	p.I2262T	FN1_ENST00000359671.1_Missense_Mutation_p.I2171T|FN1_ENST00000357867.4_Missense_Mutation_p.I1961T|FN1_ENST00000357009.2_Intron|FN1_ENST00000346544.3_Missense_Mutation_p.I2051T|FN1_ENST00000356005.4_Missense_Mutation_p.I2081T|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.I2140T|FN1_ENST00000446046.1_Missense_Mutation_p.I2115T|FN1_ENST00000443816.1_Missense_Mutation_p.I2050T|FN1_ENST00000432072.2_Missense_Mutation_p.I2052T|FN1_ENST00000421182.1_Missense_Mutation_p.I2025T|FN1_ENST00000323926.6_Missense_Mutation_p.I2231T			P02751	FINC_HUMAN	fibronectin 1	2171	Fibrin-binding 2.|Fibronectin type-I 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCTCCACTATGACGTTGTA	0.502000													12	30					0	0	0.093190	0	0
ATP10A	57194	broad.mit.edu	37	15	25962006	25962006	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:25962006G>T	ENST00000356865.6	-	9	1758	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	549					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCGCCACGGCTAGGCTCT	0.587000													12	52					0.000219431	0.000235639	0.119110	1	0
CREBBP	1387	broad.mit.edu	37	16	3781826	3781826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr16:3781826G>A	ENST00000262367.5	-	29	5650	c.4841C>T	c.(4840-4842)tCc>tTc	p.S1614F	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1576F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1614	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGGTCATTGGACACGTTGGG	0.557000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						19	52					0	0	0.038395	0	0
SPAG5	10615	broad.mit.edu	37	17	26906469	26906469	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:26906469C>A	ENST00000321765.5	-	18	3251	c.2919G>T	c.(2917-2919)atG>atT	p.M973I		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	973					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCATAATACTCATTTCTGCCA	0.488000													59	69					5.86059e-21	8.05565e-21	0.139131	1	0
BICC1	80114	broad.mit.edu	37	10	60562844	60562844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:60562844G>A	ENST00000373886.3	+	15	2027	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	BICC1_ENST00000263103.1_Missense_Mutation_p.D301N	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	675					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CAGCAGCACTGACAGGTTGCT	0.473000													9	13					0	0	0.047766	0	0
C12orf40	283461	broad.mit.edu	37	12	40041680	40041680	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:40041680G>T	ENST00000324616.5	+	6	625	c.471G>T	c.(469-471)gtG>gtT	p.V157V	C12orf40_ENST00000398716.1_Silent_p.V80V|C12orf40_ENST00000405531.3_Silent_p.V157V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	157										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTTTTCAGTGGAGTTACCTT	0.383000													8	32					0.000157383	0.000169974	0.038147	1	0
RBP5	83758	broad.mit.edu	37	12	7280932	7280932	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:7280932C>T	ENST00000266560.3	-	2	322	c.156G>A	c.(154-156)gtG>gtA	p.V52V	RBP5_ENST00000542370.1_Silent_p.V52V	NM_031491.2	NP_113679.1	P82980	RET5_HUMAN	retinol binding protein 5, cellular	52						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	TGAGCGTCCTCACCGTCATGT	0.577000													19	75					0	0	0.055883	0	0
PHIP	55023	broad.mit.edu	37	6	79711634	79711634	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr6:79711634T>A	ENST00000275034.4	-	17	2028	c.1861A>T	c.(1861-1863)Atg>Ttg	p.M621L		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	621					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTTACTCCCATCTGAGGGATG	0.398000													22	13					0	0	0.076483	0	0
FRG1BP	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													3	54					0	0	0.047766	0	0
DTX4	23220	broad.mit.edu	37	11	58949291	58949291	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:58949291C>T	ENST00000227451.3	+	2	395	c.291C>T	c.(289-291)aaC>aaT	p.N97N	DTX4_ENST00000532982.1_5'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	97	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGTGGGAGAACGACAATGGCT	0.617000													13	43					0	0	0.132662	0	0
C7orf50	84310	broad.mit.edu	37	7	1040142	1040142	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:1040142C>T	ENST00000397098.3	-	4	1295	c.369G>A	c.(367-369)caG>caA	p.Q123Q	C7orf50_ENST00000397100.2_Silent_p.Q123Q|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Silent_p.Q123Q			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	123							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GGAGCCACGTCTGCCTCGTCT	0.597000													6	3					0	0	0.029380	0	0
AMOT	154796	broad.mit.edu	37	X	112033827	112033827	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:112033827C>A	ENST00000371959.3	-	7	2109	c.2110G>T	c.(2110-2112)Gct>Tct	p.A704S	AMOT_ENST00000371958.1_Missense_Mutation_p.A472S|AMOT_ENST00000371962.1_Missense_Mutation_p.A472S|AMOT_ENST00000304758.1_Missense_Mutation_p.A295S|AMOT_ENST00000524145.1_Missense_Mutation_p.A704S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	704					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TACCTCTGAGCAGCCACAGTT	0.428000													77	48					9.61239e-26	1.36086e-25	0.139131	1	0
KCNB2	9312	broad.mit.edu	37	8	73848742	73848742	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:73848742T>C	ENST00000523207.1	+	3	1740	c.1152T>C	c.(1150-1152)taT>taC	p.Y384Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	384					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGTTGGCTATGGTGACATTT	0.453000													23	101					0	0	0.069288	0	0
GLUD1	2746	broad.mit.edu	37	10	88854150	88854150	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:88854150T>C	ENST00000277865.4	-	1	473	c.377A>G	c.(376-378)gAc>gGc	p.D126G		NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	126					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCAGGAGCCGTCGTCGCGCCG	0.697000													7	17					0	0	0.029380	0	0
UTP20	27340	broad.mit.edu	37	12	101767436	101767436	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:101767436C>A	ENST00000261637.4	+	54	7196	c.7022C>A	c.(7021-7023)aCg>aAg	p.T2341K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2341					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.T2341M(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GACTCTGCCACGTGCAAAAAG	0.438000													13	28					2.27111e-07	2.64148e-07	0.093190	1	0
ZNF132	7691	broad.mit.edu	37	19	58945629	58945629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:58945629C>G	ENST00000254166.3	-	3	1582	c.1182G>C	c.(1180-1182)caG>caC	p.Q394H		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	394						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGTGAACTTTCTGATGCCGAA	0.478000													17	55					0	0	0.146539	0	0
PTPRC	5788	broad.mit.edu	37	1	198713288	198713288	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:198713288A>T	ENST00000367376.2	+	26	2968	c.2797A>T	c.(2797-2799)Agg>Tgg	p.R933W	PTPRC_ENST00000348564.6_Missense_Mutation_p.R774W|PTPRC_ENST00000442510.2_Missense_Mutation_p.R935W|PTPRC_ENST00000594404.1_Missense_Mutation_p.R772W|PTPRC_ENST00000352140.3_Missense_Mutation_p.R885W	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	933					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CATGAAGAAAAGGGATCCACC	0.373000													10	26					0	0	0.069234	0	0
ZNF132	7691	broad.mit.edu	37	19	58945609	58945609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:58945609C>G	ENST00000254166.3	-	3	1602	c.1202G>C	c.(1201-1203)aGa>aCa	p.R401T		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	401						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTCATAAGGTCTTACCTGTGT	0.473000													17	55					0	0	0.146539	0	0
NUP214	8021	broad.mit.edu	37	9	134090708	134090708	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:134090708A>T	ENST00000359428.5	+	31	5846	c.5702A>T	c.(5701-5703)aAc>aTc	p.N1901I	NUP214_ENST00000483497.2_Missense_Mutation_p.N727I|NUP214_ENST00000451030.1_Missense_Mutation_p.N1902I|NUP214_ENST00000411637.2_Missense_Mutation_p.N1891I			P35658	NU214_HUMAN	nucleoporin 214kDa	1901	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCAACAAAAACCCATTCAGC	0.517000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								40	39					0	0	0.117977	0	0
NDOR1	27158	broad.mit.edu	37	9	140109611	140109611	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:140109611C>G	ENST00000371521.4	+	9	1213	c.1130C>G	c.(1129-1131)cCc>cGc	p.P377R	NDOR1_ENST00000344894.5_Missense_Mutation_p.P377R|NDOR1_ENST00000427047.2_Missense_Mutation_p.P343R|NDOR1_ENST00000458322.2_Missense_Mutation_p.P377R	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	377	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	p.P377L(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GACCTCATCCCCGTTATCCGG	0.667000													8	10					0	0	0.038147	0	0
NR3C2	4306	broad.mit.edu	37	4	149356316	149356316	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr4:149356316A>T	ENST00000355292.3	-	2	2059	c.1697T>A	c.(1696-1698)cTg>cAg	p.L566Q	NR3C2_ENST00000344721.4_Missense_Mutation_p.L566Q|NR3C2_ENST00000511528.1_Missense_Mutation_p.L566Q|NR3C2_ENST00000358102.3_Missense_Mutation_p.L566Q|NR3C2_ENST00000342437.4_Missense_Mutation_p.L566Q|NR3C2_ENST00000512865.1_Missense_Mutation_p.L566Q			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	566	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCTAGACGACAGGTCGCCGTG	0.413000													22	53					0	0	0.062417	0	0
CD1E	913	broad.mit.edu	37	1	158324270	158324270	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:158324270G>C	ENST00000368160.3	+	2	162	c.162G>C	c.(160-162)gaG>gaC	p.E54D	CD1E_ENST00000368165.3_Missense_Mutation_p.E54D|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.E54D|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.E54D|CD1E_ENST00000434258.1_Missense_Mutation_p.E52D|CD1E_ENST00000368155.3_Missense_Mutation_p.E54D|CD1E_ENST00000368163.3_Missense_Mutation_p.E54D|CD1E_ENST00000368156.1_Missense_Mutation_p.E54D|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	54					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACACAGTGAGGGCTCAGGAT	0.572000													16	46					0	0	0.132662	0	0
CUL3	8452	broad.mit.edu	37	2	225365205	225365205	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:225365205C>A	ENST00000264414.4	-	11	1824		c.e11-1		CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409096.1_Splice_Site|CUL3_ENST00000409777.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAAGATACCTATGTAAAAC	0.428000													17	57					1.62849e-17	2.19846e-17	0.146539	1	0
TRIM22	10346	broad.mit.edu	37	11	5730527	5730527	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:5730527G>A	ENST00000379965.3	+	8	1423	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	382	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ATAAAAGGAAGAGCTCTGGGT	0.378000													13	44					0	0	0.105934	0	0
OR2T4	127074	broad.mit.edu	37	1	248525375	248525375	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:248525375C>G	ENST00000366475.1	+	1	493	c.493C>G	c.(493-495)Cct>Gct	p.P165A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCCGTTACCCTGTCCTCAT	0.522000													33	130					0	0	0.050027	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952351	95952351	+	Silent	SNP	C	C	T	rs141483665		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:95952351C>T	ENST00000342697.4	-	3	617	c.210G>A	c.(208-210)ccG>ccA	p.P70P	TP53INP1_ENST00000448464.2_Silent_p.P70P|TP53INP1_ENST00000378776.4_Silent_p.P70P|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	70					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					CAAGAGATGCCGGTAAACAGG	0.473000													20	20					0	0	0.055883	0	0
SLC35F1	222553	broad.mit.edu	37	6	118596758	118596758	+	Silent	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr6:118596758A>G	ENST00000360388.4	+	5	975	c.774A>G	c.(772-774)gcA>gcG	p.A258A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	258					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTTTGGAGCATTTTTCAGTG	0.383000													10	50					0	0	0.069234	0	0
STARD8	9754	broad.mit.edu	37	X	67938280	67938280	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:67938280C>A	ENST00000252336.6	+	5	1656	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	STARD8_ENST00000374599.3_Silent_p.T508T|STARD8_ENST00000374597.3_Silent_p.T428T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	428					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGGAACCCACCTTTGCCTCTA	0.622000													6	6					5.18039e-06	5.77637e-06	0.038147	1	0
DCAF5	8816	broad.mit.edu	37	14	69542127	69542127	+	Splice_Site	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:69542127T>C	ENST00000341516.5	-	7	1028	c.879_splice	c.e7-1	p.Y294_splice	DCAF5_ENST00000554215.1_Splice_Site_p.Y212_splice|DCAF5_ENST00000557386.1_Splice_Site_p.Y293_splice|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Splice_Site_p.Y212_splice	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	294						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CGAAAGGATATACTGTTGGAA	0.308000													40	101					0	0	0.092188	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176015	140176015	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:140176015T>A	ENST00000526136.1	+	1	1466	c.1466T>A	c.(1465-1467)cTg>cAg	p.L489Q	PCDHA2_ENST00000520672.2_Missense_Mutation_p.L489Q|PCDHA2_ENST00000378132.1_Missense_Mutation_p.L489Q|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACGCGCTGGTGTCCTAC	0.657000													23	42					0	0	0.054565	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43833759	43833759	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:43833759T>A	ENST00000389420.3	-	17	2403	c.2404A>T	c.(2404-2406)Aat>Tat	p.N802Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N802Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	802	Spacer.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTGCGTTATTTGATCCACTG	0.299000													8	3					0	0	0.038147	0	0
SLC2A14	144195	broad.mit.edu	37	12	7973850	7973850	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:7973850C>T	ENST00000543909.1	-	13	1764	c.1005G>A	c.(1003-1005)gcG>gcA	p.A335A	SLC2A14_ENST00000539924.1_Silent_p.A350A|SLC2A14_ENST00000340749.5_Silent_p.A312A|SLC2A14_ENST00000535295.1_Silent_p.A226A|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000542546.1_Silent_p.A226A|SLC2A14_ENST00000396589.2_Silent_p.A335A|SLC2A14_ENST00000431042.2_Silent_p.A312A			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAACCACACCCGCGCTGATGG	0.413000													68	62					0	0	0.139131	0	0
ERCC5	2073	broad.mit.edu	37	13	103514530	103514530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr13:103514530C>G	ENST00000355739.4	+	8	2454	c.1031C>G	c.(1030-1032)aCt>aGt	p.T344S	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.N769K	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTCCAAGAACTTTACTAGCT	0.512000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	67					0	0	0.093190	0	0
C11orf42	160298	broad.mit.edu	37	11	6231257	6231257	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:6231257C>T	ENST00000316375.2	+	2	300	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	84										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAAGCCTCCTGGAGCAGGC	0.612000													15	10					0	0	0.132662	0	0
QSOX1	5768	broad.mit.edu	37	1	180151443	180151443	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:180151443C>A	ENST00000367602.3	+	6	815	c.741C>A	c.(739-741)tcC>tcA	p.S247S	QSOX1_ENST00000367600.5_Silent_p.S247S			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	247					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTCTGTCTCCCGAGTCCCCG	0.602000													28	69					1.39806e-14	1.82229e-14	0.134883	1	0
FSIP2	401024	broad.mit.edu	37	2	186678713	186678713	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:186678713C>A	ENST00000343098.5	+	18	20536	c.20536C>A	c.(20536-20538)Cca>Aca	p.P6846T	FSIP2_ENST00000424728.1_Missense_Mutation_p.P6757T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATGGCCACACCAAAGACGAT	0.433000													10	41					1.58986e-06	1.80471e-06	0.069234	1	0
KCNK1	3775	broad.mit.edu	37	1	233750265	233750265	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:233750265C>T	ENST00000366621.3	+	1	516	c.348C>T	c.(346-348)tcC>tcT	p.S116S		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	116						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCGTGCTCTCCACCACAGGTA	0.706000													3	10					0	0	0.115264	0	0
COL22A1	169044	broad.mit.edu	37	8	139649040	139649040	+	Splice_Site	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:139649040T>G	ENST00000303045.6	-	48	3948		c.e48-2		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGACTTCCCTTGAAAGGAAA	0.363000										HNSCC(7;0.00092)			58	132					0	0	0.139131	0	0
FAM227B	196951	broad.mit.edu	37	15	49880219	49880219	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:49880219C>T	ENST00000299338.6	-	5	702	c.399G>A	c.(397-399)aaG>aaA	p.K133K	FAM227B_ENST00000558594.1_Silent_p.K133K|FAM227B_ENST00000561064.1_Silent_p.K133K|FAM227B_ENST00000560246.1_Silent_p.K133K	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		ATACCATTATCTTTTTTTTCT	0.269000													9	22					0	0	0.058154	0	0
ZNF112	7665	broad.mit.edu	37	19	44833219	44833219	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:44833219T>C	ENST00000354340.4	-	4	1142	c.1091A>G	c.(1090-1092)cAt>cGt	p.H364R	ZNF112_ENST00000536500.1_Missense_Mutation_p.H387R|ZNF112_ENST00000337401.4_Missense_Mutation_p.H370R	NM_013380.3	NP_037512.3			zinc finger protein 112																		GTCTAAGCTATGACTGAAGGC	0.383000													14	37					0	0	0.105934	0	0
OR2W5	441932	broad.mit.edu	37	1	247655019	247655019	+	RNA	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:247655019C>A	ENST00000522351.1	+	0	650							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTGGTAGAAGCGATTCACCTT	0.582000													24	91					7.38237e-10	9.08969e-10	0.116897	1	0
KCNG3	170850	broad.mit.edu	37	2	42720364	42720364	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:42720364G>C	ENST00000306078.1	-	1	873	c.278C>G	c.(277-279)tCc>tGc	p.S93C	KCNG3_ENST00000394973.4_Missense_Mutation_p.S93C	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	93						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GTTGTAGAAGGAGAGCTCGCA	0.647000													21	8					0	0	0.076483	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962130	73962130	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:73962130G>T	ENST00000373468.1	-	3	2913	c.2262C>A	c.(2260-2262)tcC>tcA	p.S754S	KIAA2022_ENST00000055682.5_Silent_p.S754S			Q5QGS0	K2022_HUMAN	KIAA2022	754					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAGCCTTTGAGGATTGGTTTT	0.388000													21	12					5.26018e-13	6.76309e-13	0.062417	1	0
SEMA4F	10505	broad.mit.edu	37	2	74906906	74906906	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:74906906G>T	ENST00000357877.2	+	14	2032	c.1883G>T	c.(1882-1884)tGt>tTt	p.C628F	SEMA4F_ENST00000339773.5_Missense_Mutation_p.C473F|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	628	Ig-like C2-type.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCTTATGCCTGTGAATGTCAG	0.662000													25	84					8.24728e-16	1.09385e-15	0.099896	1	0
TRAT1	50852	broad.mit.edu	37	3	108568076	108568076	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:108568076T>A	ENST00000295756.6	+	5	508	c.278T>A	c.(277-279)aTg>aAg	p.M93K	TRAT1_ENST00000426646.1_Missense_Mutation_p.M56K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	93					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GTAAATAAGATGCAGGAAGCC	0.363000													14	54					0	0	0.119110	0	0
PRDM9	56979	broad.mit.edu	37	5	23527462	23527462	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:23527462G>T	ENST00000296682.3	+	11	2447	c.2265G>T	c.(2263-2265)cgG>cgT	p.R755R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	755					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTGTGGGCGGGGCTTTCGCG	0.582000										HNSCC(3;0.000094)			35	36					2.40579e-17	3.23626e-17	0.086207	1	0
NBAS	51594	broad.mit.edu	37	2	15496497	15496497	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:15496497T>A	ENST00000281513.5	-	33	3886	c.3861A>T	c.(3859-3861)ttA>ttT	p.L1287F	NBAS_ENST00000441750.1_Missense_Mutation_p.L1167F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1287										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCTGCTCCACTAAAAGGATTA	0.453000													3	34					0	0	0.115264	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48607867	48607867	+	Missense_Mutation	SNP	C	C	A	rs138956741	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:48607867C>A	ENST00000354276.3	-	4	562	c.235G>T	c.(235-237)Gca>Tca	p.A79S	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A89S|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A79S|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A79S	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	79	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.A79T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGACCCCTGCGAGGTACGTG	0.517000													14	40					7.05477e-17	9.45639e-17	0.033300	1	0
NCBP2L	392517	broad.mit.edu	37	X	107037529	107037529	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:107037529C>A	ENST00000372379.1	+	1	79	c.79C>A	c.(79-81)Cgt>Agt	p.R27S	RP5-820B18.3_ENST00000509000.1_RNA					nuclear cap binding protein subunit 2-like											large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						GTTCAGTGGCCGTAAATTTCA	0.438000													11	4					2.27111e-07	2.64148e-07	0.093190	1	0
MUC17	140453	broad.mit.edu	37	7	100681637	100681637	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:100681637A>G	ENST00000306151.4	+	3	7004	c.6940A>G	c.(6940-6942)Act>Gct	p.T2314A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2314	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTACTTCTACTGAAGCCAG	0.483000													115	143					0	0	0.139131	0	0
AUTS2	26053	broad.mit.edu	37	7	70255697	70255697	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:70255697G>A	ENST00000342771.4	+	19	3816	c.3495G>A	c.(3493-3495)acG>acA	p.T1165T	AUTS2_ENST00000406775.2_Silent_p.T1141T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1165	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACGAGCACACGCGGCTCCACT	0.692000													14	29					0	0	0.146539	0	0
KCND2	3751	broad.mit.edu	37	7	119915648	119915648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:119915648C>G	ENST00000331113.4	+	1	1927	c.962C>G	c.(961-963)gCc>gGc	p.A321G		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	321					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AAGAGTTGTGCCTCAGAATTG	0.512000													23	35					0	0	0.099896	0	0
ZNF536	9745	broad.mit.edu	37	19	30935052	30935052	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:30935052G>A	ENST00000355537.3	+	2	730	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGCGCGAGGAGAACCGCCT	0.692000													10	13					0	0	0.058154	0	0
ROR2	4920	broad.mit.edu	37	9	94499675	94499675	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:94499675G>A	ENST00000375708.3	-	5	818	c.620C>T	c.(619-621)aCa>aTa	p.T207I	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.T67I	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	207	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTCCTACCTGTGATTCGGTT	0.522000													27	37					0	0	0.116897	0	0
RRBP1	6238	broad.mit.edu	37	20	17600950	17600950	+	Silent	SNP	C	C	T	rs138279227		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:17600950C>T	ENST00000377813.1	-	18	3876	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	RRBP1_ENST00000246043.4_Silent_p.S1191S|RRBP1_ENST00000455029.2_Silent_p.S532S|RRBP1_ENST00000377807.2_Silent_p.S758S|RRBP1_ENST00000360807.4_Silent_p.S758S			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1191					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.S1191S(1)|p.S758S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ATACCTGGTCCGAACTTTCAA	0.488000													27	85					0	0	0.134883	0	0
CCDC9	26093	broad.mit.edu	37	19	47761913	47761913	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:47761913G>T	ENST00000221922.6	+	3	323	c.101G>T	c.(100-102)cGc>cTc	p.R34L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	34										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCATCCGGCGCTACCAGGTG	0.567000													10	27					9.70103e-10	1.19058e-09	0.069234	1	0
EXPH5	23086	broad.mit.edu	37	11	108381350	108381350	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:108381350G>A	ENST00000265843.4	-	6	4994	c.4884C>T	c.(4882-4884)ggC>ggT	p.G1628G	EXPH5_ENST00000443411.1_Silent_p.G1440G|EXPH5_ENST00000525344.1_Silent_p.G1621G|EXPH5_ENST00000428840.1_Silent_p.G1552G	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1628					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATGGTCAAAGCCAGATCTGC	0.488000													22	16					0	0	0.069288	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948183	68948183	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:68948183C>T	ENST00000456315.2	-	8	1422	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	436					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.E436D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTGGATGCCTCTTTACTTG	0.373000													70	45					0	0	0.139131	0	0
ZYX	7791	broad.mit.edu	37	7	143079743	143079743	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:143079743G>A	ENST00000392910.2	+	0	443				ZYX_ENST00000322764.5_Missense_Mutation_p.D156N|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Intron			Q15942	ZYX_HUMAN	zyxin						cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CTCACTGCTGGATGACATGAC	0.527000													104	147					0	0	0.139131	0	0
CAPZB	832	broad.mit.edu	37	1	19712012	19712012	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:19712012C>A	ENST00000264203.3	-	4	773	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W	CAPZB_ENST00000401084.2_Missense_Mutation_p.G68W|CAPZB_ENST00000375144.1_Missense_Mutation_p.G56W|CAPZB_ENST00000264202.6_Missense_Mutation_p.G68W|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000433834.1_Missense_Mutation_p.G97W|CAPZB_ENST00000375142.1_Missense_Mutation_p.G68W			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	68					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TAGGAGTCCCCATCTCTGTTG	0.557000													11	20					0.0692343	0.0705406	0.069234	1	0
FLG	2312	broad.mit.edu	37	1	152283555	152283555	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:152283555A>T	ENST00000368799.1	-	3	3842	c.3807T>A	c.(3805-3807)agT>agA	p.S1269R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1269	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGCTAACACTGGATCCCT	0.552000									Ichthyosis				71	95					0	0	0.139131	0	0
DSG3	1830	broad.mit.edu	37	18	29054239	29054239	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr18:29054239A>T	ENST00000257189.4	+	15	2340	c.2257A>T	c.(2257-2259)Act>Tct	p.T753S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	753					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGGAGCAGCCACTGGAGTTGG	0.537000													47	47					0	0	0.139131	0	0
MACROD2	140733	broad.mit.edu	37	20	14066362	14066362	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:14066362A>G	ENST00000217246.4	+	3	654	c.259A>G	c.(259-261)Ata>Gta	p.I87V	MACROD2_ENST00000310348.4_Missense_Mutation_p.I87V	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	87	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGTAGATGCTATAGTCAATGC	0.313000													6	25					0	0	0.038147	0	0
TTN	7273	broad.mit.edu	37	2	179582094	179582094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:179582094G>A	ENST00000589042.1	-	88	25591	c.25367C>T	c.(25366-25368)cCt>cTt	p.P8456L	TTN_ENST00000342992.6_Missense_Mutation_p.P7212L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P8139L|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8139	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAAAGAAAGGAGGCACTTC	0.403000													11	41					0	0	0.093190	0	0
FAM47C	442444	broad.mit.edu	37	X	37028482	37028482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:37028482C>T	ENST00000358047.3	+	1	2051	c.1999C>T	c.(1999-2001)Ccc>Tcc	p.P667S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	667										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCCCCCGGAGCC	0.642000													14	9					0	0	0.119110	0	0
P2RY1	5028	broad.mit.edu	37	3	152553781	152553781	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:152553781C>A	ENST00000305097.3	+	1	1046	c.210C>A	c.(208-210)agC>agA	p.S70R		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	70					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGGGCAACAGCGTGGCCATCT	0.537000													6	121					0.00116845	0.00121339	0.021553	1	0
ZBTB14	7541	broad.mit.edu	37	18	5291112	5291112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr18:5291112C>T	ENST00000357006.4	-	4	1433	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	ZBTB14_ENST00000400143.3_Missense_Mutation_p.M365I	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CTTTGTCACACATGTGGCACG	0.463000													27	99					0	0	0.099896	0	0
TTN	7273	broad.mit.edu	37	2	179516662	179516662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:179516662C>T	ENST00000589042.1	-	205	39552	c.39328G>A	c.(39328-39330)Gag>Aag	p.E13110K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10676K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11603K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11463							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGGAGGCTCTTCTAGGGCA	0.483000													5	13					0	0	0.021553	0	0
LPHN3	23284	broad.mit.edu	37	4	62679532	62679532	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr4:62679532G>T	ENST00000512091.1	+	8	1948	c.1201G>T	c.(1201-1203)Gca>Tca	p.A401S	LPHN3_ENST00000506746.1_Missense_Mutation_p.A469S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A401S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A469S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A469S|LPHN3_ENST00000504896.1_Missense_Mutation_p.A401S|LPHN3_ENST00000508693.1_Missense_Mutation_p.A469S|LPHN3_ENST00000507164.1_Missense_Mutation_p.A469S|LPHN3_ENST00000514157.1_Missense_Mutation_p.A401S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A401S|LPHN3_ENST00000514591.1_Missense_Mutation_p.A401S|LPHN3_ENST00000514996.1_Missense_Mutation_p.A401S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A401S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A469S|LPHN3_ENST00000511324.1_Missense_Mutation_p.A469S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	401					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						cacagggcaggcacatcatgg	0.358000													8	8					4.68919e-08	5.5391e-08	0.069234	1	0
ITGB8	3696	broad.mit.edu	37	7	20403258	20403258	+	Splice_Site	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:20403258A>T	ENST00000222573.3	+	2	811		c.e2-1		ITGB8_ENST00000537992.1_Splice_Site	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CCTTCATTGCAGAAGACAATA	0.368000													12	5					0	0	0.119110	0	0
DPCD	25911	broad.mit.edu	37	10	103360557	103360557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:103360557G>C	ENST00000370151.4	+	3	257	c.208G>C	c.(208-210)Gac>Cac	p.D70H	DPCD_ENST00000370147.1_Missense_Mutation_p.D70H|DPCD_ENST00000370148.2_Missense_Mutation_p.D70H	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	70							protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						TGAAGTAGGAGACCCAGCGCC	0.572000													14	30					0	0	0.132662	0	0
ENGASE	64772	broad.mit.edu	37	17	77078233	77078233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:77078233C>G	ENST00000539857.2	+	6	983	c.568C>G	c.(568-570)Cct>Gct	p.P190A	ENGASE_ENST00000579016.1_Intron|ENGASE_ENST00000584568.1_Intron			Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	0						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCCGTCTGCACCTCAAAGGAA	0.602000													5	13					0	0	0.029380	0	0
SPATA16	83893	broad.mit.edu	37	3	172674544	172674544	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:172674544A>T	ENST00000351008.3	-	6	1187	c.1004T>A	c.(1003-1005)aTa>aAa	p.I335K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	335					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ATCAGCTCTTATTTTTGTCGC	0.368000													5	57					0	0	0.014758	0	0
GRID2	2895	broad.mit.edu	37	4	94006249	94006249	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr4:94006249C>A	ENST00000282020.4	+	3	606	c.348C>A	c.(346-348)caC>caA	p.H116Q	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	116					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATATCCCCCACCTCTTCATTC	0.562000													21	19					5.35356e-11	6.6787e-11	0.076483	1	0
COL11A1	1301	broad.mit.edu	37	1	103491779	103491779	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:103491779T>A	ENST00000370096.3	-	6	1202	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q297L|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical 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)		TACCTCCGTCTGTGCTATTGT	0.443000													15	16					0	0	0.132662	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285082	55285082	+	Missense_Mutation	SNP	T	T	A	rs80323556	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:55285082T>A	ENST00000336077.6	+	3	408	c.368T>A	c.(367-369)aTa>aAa	p.I123K	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.I123K|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	123					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ATCGTGATCATAGGTGAGAGT	0.512000													48	119					0	0	0.139131	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33616118	33616118	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:33616118C>A	ENST00000504830.1	-	15	2538	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E650*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	735	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGCTCCCTCAATTTCCATC	0.448000										HNSCC(64;0.19)			14	44					4.3838e-07	5.05206e-07	0.105934	1	0
BAGE2	85319	broad.mit.edu	37	21	11039019	11039019	+	RNA	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr21:11039019A>C	ENST00000470054.1	-	0	1184									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTTTCACACAACCCTCAATT	0.378000													13	441					0	0	0.119110	0	0
MEGF8	1954	broad.mit.edu	37	19	42863326	42863326	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:42863326A>T	ENST00000334370.4	+	30	5854	c.5219A>T	c.(5218-5220)gAc>gTc	p.D1740V	MEGF8_ENST00000251268.6_Missense_Mutation_p.D1807V	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1807						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCGGACCCTGACGAGTTCAGC	0.652000													5	6					0	0	0.014758	0	0
PXDN	7837	broad.mit.edu	37	2	1670117	1670117	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:1670117G>T	ENST00000252804.4	-	10	1210	c.1160C>A	c.(1159-1161)cCg>cAg	p.P387Q	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	387	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.P387Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTCACCCGCGGGTCAACTGG	0.632000													6	23					8.12818e-05	8.82889e-05	0.029380	1	0
GPR37	2861	broad.mit.edu	37	7	124387345	124387345	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:124387345C>T	ENST00000303921.2	-	2	1726	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	359						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCACGGAAGCGGTCTATGCA	0.488000													6	38					0	0	0.038147	0	0
OR8K3	219473	broad.mit.edu	37	11	56086376	56086376	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:56086376A>T	ENST00000312711.1	+	1	594	c.594A>T	c.(592-594)atA>atT	p.I198I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGAATTGATAATTCTGATCT	0.363000													22	70					0	0	0.055883	0	0
PRKD3	23683	broad.mit.edu	37	2	37505011	37505011	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:37505011G>T	ENST00000379066.1	-	9	2056	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	PRKD3_ENST00000234179.2_Missense_Mutation_p.L432M			O94806	KPCD3_HUMAN	protein kinase D3	432	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTACTGACCAGGTTATCCCTG	0.378000													83	43					1.13027e-35	1.63069e-35	0.139131	1	0
GDAP1L1	78997	broad.mit.edu	37	20	42885797	42885797	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:42885797G>T	ENST00000342560.5	+	2	273	c.185G>T	c.(184-186)cGg>cTg	p.R62L	GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.R62L	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	62	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCAGGTGCGGCTGGTGATC	0.706000													10	3					0.000442599	0.000466024	0.058154	1	0
C8orf34	116328	broad.mit.edu	37	8	69552738	69552738	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:69552738G>T	ENST00000337103.4	+	7	2492	c.900G>T	c.(898-900)agG>agT	p.R300S	C8orf34_ENST00000325233.3_Missense_Mutation_p.R69S|C8orf34_ENST00000539993.1_Missense_Mutation_p.R325S|C8orf34_ENST00000518698.1_Missense_Mutation_p.R411S			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	325					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTGTTCAAGGTGTGCCAGGT	0.388000													24	45					7.87624e-14	1.0231e-13	0.076483	1	0
DPPA2	151871	broad.mit.edu	37	3	109026954	109026954	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:109026954T>C	ENST00000478945.1	-	6	829	c.583A>G	c.(583-585)Aga>Gga	p.R195G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	195						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAACAGCTCTTGCAGCAATT	0.438000													25	91					0	0	0.076483	0	0
OR4C16	219428	broad.mit.edu	37	11	55340052	55340052	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:55340052C>A	ENST00000314634.3	+	1	449	c.449C>A	c.(448-450)tCc>tAc	p.S150Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGGTGGGATCCTGTGTGCAT	0.498000													20	58					1.00905e-13	1.30623e-13	0.049695	1	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473086	22473086	+	RNA	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:22473086C>T	ENST00000557788.2	-	0	184																											CAGCCCCTTCCCTGGGGGCTG	0.577000													27	189					0	0	0.134883	0	0
SCN7A	6332	broad.mit.edu	37	2	167328890	167328890	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:167328890G>T	ENST00000409855.1	-	5	635	c.509C>A	c.(508-510)gCa>gAa	p.A170E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	170					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAATGATCCTGCCCAGACACC	0.343000													3	11					6.4e-05	7.01217e-05	0.115264	1	0
SLC38A11	151258	broad.mit.edu	37	2	165795989	165795989	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:165795989A>C	ENST00000303735.4	-	4	604	c.274T>G	c.(274-276)Ttg>Gtg	p.L92V	SLC38A11_ENST00000409149.3_Missense_Mutation_p.L114V|SLC38A11_ENST00000409662.1_Missense_Mutation_p.L114V|SLC38A11_ENST00000409058.1_Missense_Mutation_p.L145V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	114					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTCGGTACAAGGATAAAGGC	0.343000													9	48					0	0	0.058154	0	0
KMT2C	58508	broad.mit.edu	37	7	151945277	151945277	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:151945277A>C	ENST00000355193.2	-	14	2460	c.2242T>G	c.(2242-2244)Tgt>Ggt	p.C748G	KMT2C_ENST00000262189.6_Missense_Mutation_p.C748G					lysine (K)-specific methyltransferase 2C																		TCTTTCACACAACCCTCAATT	0.378000													4	186					0	0	0.029380	0	0
PTPRC	5788	broad.mit.edu	37	1	198687403	198687403	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:198687403T>G	ENST00000367376.2	+	14	1796	c.1625T>G	c.(1624-1626)cTt>cGt	p.L542R	PTPRC_ENST00000348564.6_Missense_Mutation_p.L383R|PTPRC_ENST00000442510.2_Missense_Mutation_p.L544R|PTPRC_ENST00000594404.1_Missense_Mutation_p.L381R|PTPRC_ENST00000352140.3_Missense_Mutation_p.L494R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	542	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAAAAGATCTTCAATATTCA	0.343000													9	8					0	0	0.058154	0	0
TTN	7273	broad.mit.edu	37	2	179438979	179438979	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:179438979G>T	ENST00000589042.1	-	326	72104	c.71880C>A	c.(71878-71880)atC>atA	p.I23960I	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.I21392I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.I15087I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.I22319I|TTN_ENST00000460472.2_Silent_p.I14895I|TTN_ENST00000359218.5_Silent_p.I15020I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22319							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCAACGATATAACTGG	0.413000													10	35					1.58986e-06	1.80471e-06	0.069234	1	0
C17orf77	146723	broad.mit.edu	37	17	72588683	72588683	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:72588683C>T	ENST00000392620.1	+	3	860	c.498C>T	c.(496-498)tgC>tgT	p.C166C	C17orf77_ENST00000328023.2_Silent_p.C166C	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	166						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGAGGAGCTGCGGGATCTACT	0.587000													8	29					0	0	0.038147	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190615	39190615	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:39190615G>A	ENST00000344363.5	-	1	492	c.459C>T	c.(457-459)tgC>tgT	p.C153C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	163						extracellular region|keratin filament	structural constituent of epidermis	p.C153C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGGCGGCAGCAGGACTGTC	0.577000													11	32					0	0	0.080935	0	0
NEB	4703	broad.mit.edu	37	2	152486055	152486055	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:152486055C>A	ENST00000397345.3	-	68	10031	c.9829G>T	c.(9829-9831)Gat>Tat	p.D3277Y	NEB_ENST00000604864.1_Missense_Mutation_p.D3277Y|NEB_ENST00000172853.10_Missense_Mutation_p.D3034Y|NEB_ENST00000409198.1_Missense_Mutation_p.D3034Y|NEB_ENST00000427231.2_Missense_Mutation_p.D3277Y|NEB_ENST00000603639.1_Missense_Mutation_p.D3277Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3277					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTACTCACATCACTGATAACG	0.448000													12	61					5.50884e-06	6.12453e-06	0.093190	1	0
MARVELD3	91862	broad.mit.edu	37	16	71668181	71668181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr16:71668181G>A	ENST00000567501.1	+	3	313	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000268485.3_Silent_p.T227T			Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0	Arg-rich.					integral to membrane		p.T227T(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGGGCTACACGGGCATCACCA	0.557000													4	134					0	0	0.014758	0	0
CXorf57	55086	broad.mit.edu	37	X	105882844	105882844	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:105882844G>T	ENST00000372548.4	+	9	1770	c.1661G>T	c.(1660-1662)gGg>gTg	p.G554V	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	554										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCAATTCAGGGGATAATTACT	0.423000													41	22					1.07121e-22	1.48866e-22	0.092188	1	0
TRGV2	6974	broad.mit.edu	37	7	38402543	38402543	+	RNA	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:38402543T>A	ENST00000426402.2	-	0	465																											AGTTGTTCCTTGTGCTTGCGT	0.473000													13	44					0	0	0.049695	0	0
GPR64	10149	broad.mit.edu	37	X	19022897	19022897	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:19022897A>G	ENST00000354791.3	-	22	2133	c.1892T>C	c.(1891-1893)cTt>cCt	p.L631P	GPR64_ENST00000379873.2_Missense_Mutation_p.L647P|GPR64_ENST00000360279.4_Missense_Mutation_p.L625P|GPR64_ENST00000340581.3_Missense_Mutation_p.L528P|GPR64_ENST00000357991.3_Missense_Mutation_p.L644P|GPR64_ENST00000379869.3_Missense_Mutation_p.L647P|GPR64_ENST00000356606.4_Missense_Mutation_p.L633P|GPR64_ENST00000379876.1_Missense_Mutation_p.L623P|GPR64_ENST00000357544.3_Missense_Mutation_p.L617P|GPR64_ENST00000379878.3_Missense_Mutation_p.L631P			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	647					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTAGGTTACAAGAGTCACTGA	0.413000													55	30					0	0	0.139131	0	0
MFN2	9927	broad.mit.edu	37	1	12064156	12064156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:12064156C>T	ENST00000235329.5	+	12	1590	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M	MFN2_ENST00000444836.1_Missense_Mutation_p.T423M	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	423					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAGCAGATTACGGAGGAAGTG	0.493000													16	19					0	0	0.043863	0	0
TTN	7273	broad.mit.edu	37	2	179474460	179474460	+	Silent	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:179474460A>G	ENST00000589042.1	-	272	51914	c.51690T>C	c.(51688-51690)atT>atC	p.I17230I	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.I14662I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.I8357I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.I15589I|TTN_ENST00000460472.2_Silent_p.I8165I|TTN_ENST00000359218.5_Silent_p.I8290I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15589	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTTCACTAATACCCGCGG	0.458000													100	107					0	0	0.139131	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154528425	154528425	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:154528425C>G	ENST00000292211.4	-	2	422	c.343G>C	c.(343-345)Gtg>Ctg	p.V115L	UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	115							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGGGGGGCACAGCAGGGTAT	0.527000													15	37					0	0	0.119110	0	0
FSCB	84075	broad.mit.edu	37	14	44976037	44976037	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:44976037A>G	ENST00000340446.4	-	1	445	c.154T>C	c.(154-156)Tct>Cct	p.S52P		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	52						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTCAGAAGATACTCTAATA	0.418000													71	173					0	0	0.139131	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33609096	33609096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:33609096C>T	ENST00000252015.2	-	9	1204	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	TRPC4AP_ENST00000451813.1_Missense_Mutation_p.R364K|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R333K|TRPC4AP_ENST00000539834.1_Intron			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	372	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGCTGGGTTCTGGCTGACGT	0.552000													13	31					0	0	0.093190	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868430	39868430	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:39868430C>A	ENST00000314471.6	+	10	2445	c.1410C>A	c.(1408-1410)gaC>gaA	p.D470E	SAMD4B_ENST00000598913.1_Missense_Mutation_p.D470E|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	470							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCGACGGAGACATCCCCAGCC	0.622000													3	27					0.115264	0.117123	0.115264	1	0
IFI27L1	122509	broad.mit.edu	37	14	94568245	94568245	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:94568245G>T	ENST00000556381.1	+	5	479	c.144G>T	c.(142-144)aaG>aaT	p.K48N	IFI27L1_ENST00000555523.1_Missense_Mutation_p.K49N|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.K49N|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.D72Y|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000393115.3_Missense_Mutation_p.K49N			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	49						integral to membrane				lung(2)	2						TAGCAGCCAAGATGATGTCTA	0.592000													13	49					2.23348e-06	2.52772e-06	0.146539	1	0
TP53BP1	7158	broad.mit.edu	37	15	43784507	43784507	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:43784507T>C	ENST00000263801.3	-	2	404	c.152A>G	c.(151-153)cAg>cGg	p.Q51R	TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q56R|TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q56R|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q56R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	51					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTGTGCGTCTGGAGATTAGG	0.393000								Other conserved DNA damage response genes					3	96					0	0	0.115264	0	0
FBN1	2200	broad.mit.edu	37	15	48720627	48720627	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:48720627C>A	ENST00000316623.5	-	57	7368	c.6913G>T	c.(6913-6915)Ggg>Tgg	p.G2305W		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2305	EGF-like 40; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGCAGCGCCCATTCTCACAG	0.488000													18	15					3.32936e-07	3.84862e-07	0.038395	1	0
C12orf52	84934	broad.mit.edu	37	12	113629589	113629589	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:113629589G>A	ENST00000548278.1	+	4	1469	c.777G>A	c.(775-777)ggG>ggA	p.G259G	C12orf52_ENST00000549621.1_Silent_p.G259G|C12orf52_ENST00000552495.1_Silent_p.G283G|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	259	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GACGAGGTGGGGCCACCCAGA	0.602000													30	16					0	0	0.059317	0	0
SOCS7	30837	broad.mit.edu	37	17	36520668	36520668	+	Missense_Mutation	SNP	C	C	G	rs77546775		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:36520668C>G	ENST00000577233.1	+	3	887	c.887C>G	c.(886-888)tCt>tGt	p.S296C	SOCS7_ENST00000331159.5_Missense_Mutation_p.S296C	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	296	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GTGGACATTTCTCAGCGGGGC	0.542000													12	63					0	0	0.093190	0	0
MYOM2	9172	broad.mit.edu	37	8	2056622	2056622	+	Splice_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:2056622G>A	ENST00000262113.4	+	24	3184		c.e24+1		MYOM2_ENST00000523438.1_Splice_Site	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGAACCCCAGTAAGTAAGCC	0.473000													19	36					0	0	0.055883	0	0
XPO7	23039	broad.mit.edu	37	8	21848388	21848388	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:21848388A>G	ENST00000434536.1	+	18	2128	c.2026A>G	c.(2026-2028)Acc>Gcc	p.T676A	XPO7_ENST00000433566.4_Missense_Mutation_p.T668A|XPO7_ENST00000252512.9_Missense_Mutation_p.T667A			Q9UIA9	XPO7_HUMAN	exportin 7	667					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GTGTCGGACTACCTTCTACAC	0.403000													34	118					0	0	0.080422	0	0
ZNF132	7691	broad.mit.edu	37	19	58945685	58945685	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:58945685C>G	ENST00000254166.3	-	3	1526	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	376						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCAGGCACTCAAAAGGCCTT	0.458000													14	40					0	0	0.146539	0	0
DNAH5	1767	broad.mit.edu	37	5	13859686	13859686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:13859686G>A	ENST00000265104.4	-	30	4929	c.4825C>T	c.(4825-4827)Caa>Taa	p.Q1609*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1609	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCCATTTTTGAATCTGGGCT	0.378000									Kartagener syndrome				42	124					0	0	0.139131	0	0
DST	667	broad.mit.edu	37	6	56341031	56341031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr6:56341031C>A	ENST00000370754.5	-	92	21686	c.21687G>T	c.(21685-21687)tgG>tgT	p.W7229C	DST_ENST00000361203.3_Missense_Mutation_p.W6940C|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.W4637C|DST_ENST00000370769.4_Missense_Mutation_p.W7051C|DST_ENST00000370788.2_Missense_Mutation_p.W4854C|DST_ENST00000446842.2_Missense_Mutation_p.W6725C|DST_ENST00000421834.2_Missense_Mutation_p.W4963C			Q03001	DYST_HUMAN	dystonin	7049	EF-hand 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGTTTCAGCCCATTGCAACC	0.448000													10	8					0.000442599	0.000466024	0.058154	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110431467	110431467	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:110431467A>T	ENST00000378402.5	+	22	2606	c.2502A>T	c.(2500-2502)acA>acT	p.T834T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	834					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGACACACATCTACAATCT	0.328000										HNSCC(38;0.096)			3	22					0	0	0.009096	0	0
NLRP8	126205	broad.mit.edu	37	19	56485041	56485041	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:56485041A>T	ENST00000291971.3	+	7	2629	c.2558A>T	c.(2557-2559)cAg>cTg	p.Q853L	NLRP8_ENST00000590542.1_Intron	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	853						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AACCTTACACAGCTTACTTGT	0.498000													45	112					0	0	0.131918	0	0
PDCD11	22984	broad.mit.edu	37	10	105174888	105174888	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:105174888G>T	ENST00000369797.3	+	12	1592	c.1498G>T	c.(1498-1500)Ggg>Tgg	p.G500W		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	500	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTACCACATCGGGGATGAGGT	0.547000													7	18					5.68852e-11	7.07323e-11	0.047766	1	0
OR5P3	120066	broad.mit.edu	37	11	7847305	7847305	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:7847305C>G	ENST00000328375.1	-	1	214	c.215G>C	c.(214-216)gGg>gCg	p.G72A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGAGTACCCAATGTCTAC	0.438000													40	23					0	0	0.092188	0	0
SNPH	9751	broad.mit.edu	37	20	1285749	1285749	+	Missense_Mutation	SNP	C	C	T	rs144660706		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:1285749C>T	ENST00000381867.1	+	7	1310	c.668C>T	c.(667-669)aCg>aTg	p.T223M	SNPH_ENST00000381873.3_Missense_Mutation_p.T179M			O15079	SNPH_HUMAN	syntaphilin	179					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGCTGGAGACGCTGCTGCAC	0.587000													11	30					0	0	0.069234	0	0
NAPG	8774	broad.mit.edu	37	18	10540342	10540342	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr18:10540342G>C	ENST00000322897.6	+	8	521	c.452G>C	c.(451-453)cGa>cCa	p.R151P	NAPG_ENST00000542979.1_Missense_Mutation_p.R69P	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	151					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						GAACGCTTACGACAGGCAGTT	0.338000													26	38					0	0	0.134883	0	0
HRNR	388697	broad.mit.edu	37	1	152191599	152191599	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:152191599C>A	ENST00000368801.2	-	3	2581	c.2506G>T	c.(2506-2508)Ggt>Tgt	p.G836C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	836					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAAGTGACCTGAGGCAGAA	0.547000													17	39					3.52763e-06	3.96859e-06	0.033300	1	0
NDST4	64579	broad.mit.edu	37	4	115858477	115858477	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr4:115858477G>T	ENST00000264363.2	-	5	2082	c.1404C>A	c.(1402-1404)atC>atA	p.I468I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	468	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGCTCACCATGATGCTATTGT	0.448000													36	11					4.62619e-21	6.38212e-21	0.069456	1	0
SEMA5B	54437	broad.mit.edu	37	3	122646669	122646669	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:122646669C>A	ENST00000195173.4	-	8	1121	c.818G>T	c.(817-819)cGc>cTc	p.R273L	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R327L|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R273L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	273	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGGGCAGTGCGAAGCGGTGG	0.632000													6	40					2.7689e-08	3.30171e-08	0.029380	1	0
NPFFR1	64106	broad.mit.edu	37	10	72020482	72020482	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:72020482G>A	ENST00000277942.5	-	3	343	c.336C>T	c.(334-336)gaC>gaT	p.D112D		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	112						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						ATGTGGCATTGTCGAAGGGCC	0.577000													5	2					0	0	0.014758	0	0
OR5B21	219968	broad.mit.edu	37	11	58275518	58275518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:58275518G>A	ENST00000360374.2	-	1	60	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTATCTGAAGATTGGGGTCA	0.468000													23	33					0	0	0.069288	0	0
MYF5	4617	broad.mit.edu	37	12	81110924	81110924	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:81110924T>A	ENST00000228644.3	+	1	234	c.82T>A	c.(82-84)Ttt>Att	p.F28I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	28					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CGAGGGTGAATTTGGGGACGA	0.622000													21	14					0	0	0.076483	0	0
PRKDC	5591	broad.mit.edu	37	8	48715931	48715931	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:48715931G>A	ENST00000314191.2	-	71	9911	c.9855C>T	c.(9853-9855)tgC>tgT	p.C3285C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.C3285C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3286	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCGGCTCCGGCAGTGGCTCA	0.512000								Non-homologous end-joining					28	79					0	0	0.054565	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433279	73433279	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:73433279T>G	ENST00000263666.4	-	10	2552	c.2438A>C	c.(2437-2439)gAa>gCa	p.E813A	PDZRN3_ENST00000462146.2_Missense_Mutation_p.E470A|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E535A|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E530A|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E470A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	813							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCGGGATCTTCCGTGATGGA	0.652000													17	49					0	0	0.033300	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	138					0	0	0.009096	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39387522	39387522	+	Silent	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr22:39387522G>C	ENST00000402182.3	+	6	964	c.909G>C	c.(907-909)gtG>gtC	p.V303V	APOBEC3B_ENST00000333467.3_Silent_p.V303V|APOBEC3B_ENST00000407298.3_Silent_p.V278V			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	303					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ACACACACGTGAGACTGCGCA	0.582000													25	203					0	0	0.108266	0	0
NPAP1	23742	broad.mit.edu	37	15	24921689	24921689	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:24921689C>T	ENST00000329468.2	+	1	1149	c.675C>T	c.(673-675)gcC>gcT	p.A225A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTGAGAAGGCCCAGGCGTCTC	0.612000													8	35					0	0	0.038147	0	0
TTN	7273	broad.mit.edu	37	2	179659664	179659664	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:179659664G>A	ENST00000589042.1	-	7	1454	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	TTN_ENST00000360870.5_Silent_p.A410A|TTN_ENST00000342992.6_Silent_p.A410A|TTN_ENST00000342175.6_Silent_p.A410A|TTN_ENST00000591111.1_Silent_p.A410A|TTN_ENST00000460472.2_Silent_p.A410A|TTN_ENST00000359218.5_Silent_p.A410A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	410	Ala-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCACCAGTGGCAACAGCCT	0.498000													25	44					0	0	0.099896	0	0
GXYLT2	727936	broad.mit.edu	37	3	73016867	73016867	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:73016867G>T	ENST00000389617.4	+	6	1307	c.1146G>T	c.(1144-1146)cgG>cgT	p.R382R		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	382					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						AAGCAATACGGGATGTAAGTG	0.483000													3	15					6.4e-05	7.01217e-05	0.115264	1	0
ITPR2	3709	broad.mit.edu	37	12	26774192	26774192	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:26774192T>C	ENST00000381340.3	-	26	3742	c.3326A>G	c.(3325-3327)tAc>tGc	p.Y1109C	ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1109					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GATTTGCTTGTAGTTATCTAC	0.368000													11	264					0	0	0.080935	0	0
TGM2	7052	broad.mit.edu	37	20	36776383	36776383	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr20:36776383C>A	ENST00000361475.2	-	5	834	c.661G>T	c.(661-663)Ggc>Tgc	p.G221C	TGM2_ENST00000536724.1_Missense_Mutation_p.G161C|TGM2_ENST00000536701.1_Missense_Mutation_p.G140C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	221					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACCACCCGGCCCACGTAGACG	0.652000													7	10					0.000442599	0.000466024	0.058154	1	0
SOCS4	122809	broad.mit.edu	37	14	55510854	55510854	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:55510854G>A	ENST00000395472.2	+	2	1427	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	SOCS4_ENST00000555846.1_Silent_p.K365K|SOCS4_ENST00000339298.2_Silent_p.K365K	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	365	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AACATTATAAGGACCCAAGCG	0.423000													44	47					0	0	0.117977	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26246948	26246948	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr6:26246948G>T	ENST00000244537.4	-	1	311	c.258C>A	c.(256-258)gcC>gcA	p.A86A		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	86					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTAGACCACGGCCATGGCGG	0.567000													19	8					4.35082e-09	5.27118e-09	0.055883	1	0
DNAH9	1770	broad.mit.edu	37	17	11543609	11543609	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:11543609C>T	ENST00000262442.3	+	10	1877	c.1809C>T	c.(1807-1809)aaC>aaT	p.N603N	DNAH9_ENST00000454412.2_Silent_p.N603N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	603	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCACAAGAACATGCCCACCG	0.602000													136	47					0	0	0.139131	0	0
C4orf50	389197	broad.mit.edu	37	4	5975389	5975389	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr4:5975389T>C	ENST00000531445.1	-	4	1873	c.1827A>G	c.(1825-1827)ccA>ccG	p.P609P	C4orf50_ENST00000324058.5_Silent_p.P135P			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	135										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ACTCTACCTCTGGGACTCCCG	0.637000													73	53					0	0	0.139131	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137901	63137901	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:63137901A>G	ENST00000279178.3	+	1	622	c.373A>G	c.(373-375)Atc>Gtc	p.I125V	SLC22A9_ENST00000310969.4_Missense_Mutation_p.I125V	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	125					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GTATGACAGAATCTCCTTCTC	0.493000													11	32					0	0	0.093190	0	0
TTN	7273	broad.mit.edu	37	2	179584098	179584098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:179584098G>A	ENST00000589042.1	-	83	24243	c.24019C>T	c.(24019-24021)Cga>Tga	p.R8007*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R6763*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7690*|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7690	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGAGACTCGGCACTCCAAA	0.517000													11	68					0	0	0.069234	0	0
ZNF132	7691	broad.mit.edu	37	19	58946028	58946028	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:58946028C>G	ENST00000254166.3	-	3	1183	c.783G>C	c.(781-783)gaG>gaC	p.E261D		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	261						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TAAATGGTATCTCTTCAGAGT	0.443000													16	83					0	0	0.033300	0	0
NOC2L	26155	broad.mit.edu	37	1	880925	880925	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:880925C>A	ENST00000327044.6	-	17	2075	c.2026G>T	c.(2026-2028)Gac>Tac	p.D676Y		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	676	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGGTGTCGTCCTCTTCAGAG	0.577000													42	18					4.01765e-15	5.27317e-15	0.111260	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76389225	76389225	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr16:76389225C>A	ENST00000307431.8	+	4	589	c.204C>A	c.(202-204)ggC>ggA	p.G68G	CNTNAP4_ENST00000478060.1_Silent_p.G44G|CNTNAP4_ENST00000476707.1_Silent_p.G72G|CNTNAP4_ENST00000377504.4_Silent_p.G68G|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	69	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAGCTGGTGGCTGGTCTCCAC	0.413000													6	34					5.4927e-09	6.61224e-09	0.047766	1	0
RFX2	5990	broad.mit.edu	37	19	6008155	6008155	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:6008155C>T	ENST00000303657.5	-	10	1245	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	RFX2_ENST00000592546.1_Missense_Mutation_p.V341I|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.V366I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGGGCCTTGACGTCGTGCAGT	0.682000													4	3					0	0	0.009096	0	0
TRBC2	28638	broad.mit.edu	37	7	142498951	142498951	+	RNA	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:142498951G>T	ENST00000466254.1	+	0	227																											GATACTGCCTGAGCAGCCGCC	0.622000													19	98					1.56452e-12	1.99121e-12	0.043863	1	0
HIST3H3	8290	broad.mit.edu	37	1	228612628	228612628	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:228612628C>A	ENST00000366696.1	-	1	398	c.399G>T	c.(397-399)ggG>ggT	p.G133G		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	133					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AGGCCCGCTCCCCGCGGATAC	0.587000													16	23					3.32936e-07	3.84862e-07	0.038395	1	0
MTL5	9633	broad.mit.edu	37	11	68518104	68518104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:68518104C>A	ENST00000443940.2	-	2	111	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	MTL5_ENST00000255087.5_Missense_Mutation_p.G9W|MTL5_ENST00000544963.1_Missense_Mutation_p.G9W			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	9					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGGGCAGCCCGCCCGGCAGA	0.716000													6	10					0.000274275	0.000292045	0.047766	1	0
RBM6	10180	broad.mit.edu	37	3	50091779	50091779	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:50091779C>T	ENST00000443081.1	+	8	2167	c.1248C>T	c.(1246-1248)aaC>aaT	p.N416N	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000442092.1_Silent_p.N26N|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000422955.1_Silent_p.N26N|RBM6_ENST00000266022.4_Silent_p.N548N			P78332	RBM6_HUMAN	RNA binding motif protein 6	548					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GTAAGGCAAACATTGGTGGGC	0.383000													27	116					0	0	0.116897	0	0
KIAA1328	57536	broad.mit.edu	37	18	34415329	34415329	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr18:34415329T>C	ENST00000591619.1	+	3	1001	c.215T>C	c.(214-216)gTa>gCa	p.V72A	KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000280020.5_Missense_Mutation_p.V76A|KIAA1328_ENST00000592521.1_Missense_Mutation_p.V76A			Q86T90	K1328_HUMAN	KIAA1328	76										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGAGATTCAGTAGATGAACAG	0.393000													9	195					0	0	0.058154	0	0
ASMTL	8623	broad.mit.edu	37	X	1551172	1551172	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chrX:1551172C>A	ENST00000534940.1	-	6	550	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381317.3_Missense_Mutation_p.G167W|ASMTL_ENST00000416733.2_Missense_Mutation_p.G91W|ASMTL_ENST00000381333.4_Missense_Mutation_p.G151W	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	167	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGGGCTCCCCGCTGTGGACG	0.627000													5	5					0.014758	0.0152003	0.014758	1	0
GPR26	2849	broad.mit.edu	37	10	125447567	125447567	+	Missense_Mutation	SNP	G	G	T	rs141519939		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr10:125447567G>T	ENST00000284674.1	+	3	958	c.905G>T	c.(904-906)cGc>cTc	p.R302L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	302					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R302H(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CACCAGTACCGCAAAAGCTGC	0.597000													19	36					1.56452e-12	1.99121e-12	0.043863	1	0
ZNF419	79744	broad.mit.edu	37	19	58001541	58001541	+	Silent	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:58001541A>C	ENST00000424930.2	+	2	289	c.60A>C	c.(58-60)acA>acC	p.T20T	ZNF419_ENST00000520540.1_Intron|ZNF419_ENST00000518999.1_Silent_p.T20T|ZNF419_ENST00000442920.2_Intron|ZNF419_ENST00000347466.6_Silent_p.T20T|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000221735.7_Silent_p.T20T|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Intron|ZNF419_ENST00000415379.2_Intron	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ACTTGCTTACAGACCATGAGG	0.498000													10	21					0	0	0.146539	0	0
DBX2	440097	broad.mit.edu	37	12	45410203	45410203	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr12:45410203G>T	ENST00000332700.6	-	4	1057	c.886C>A	c.(886-888)Cca>Aca	p.P296T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	296						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GAAGGTTCTGGAGAATTCTCC	0.502000													12	43					7.03913e-09	8.44695e-09	0.093190	1	0
KALRN	8997	broad.mit.edu	37	3	123987646	123987646	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr3:123987646G>A	ENST00000360013.3	+	5	634	c.507G>A	c.(505-507)acG>acA	p.T169T	KALRN_ENST00000240874.3_Silent_p.T169T|KALRN_ENST00000460856.1_Silent_p.T169T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	169	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.T169T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCCAGCTGACGGAGGAGTTTG	0.587000													13	59					0	0	0.119110	0	0
OR5T2	219464	broad.mit.edu	37	11	56000428	56000428	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:56000428G>A	ENST00000313264.4	-	1	309	c.234C>T	c.(232-234)ctC>ctT	p.L78L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AATTTCCCATGAGAGTGAAGA	0.413000													9	77					0	0	0.069234	0	0
COL4A4	1286	broad.mit.edu	37	2	227924319	227924319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:227924319C>A	ENST00000396625.3	-	28	2392	c.2185G>T	c.(2185-2187)Gat>Tat	p.D729Y	COL4A4_ENST00000329662.7_Missense_Mutation_p.D729Y	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	729	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAACCCGGATCTCCCATGTCA	0.453000													23	71					0.000229342	0.000245584	0.062417	1	0
WDTC1	23038	broad.mit.edu	37	1	27627909	27627909	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:27627909G>A	ENST00000319394.3	+	13	1960	c.1425G>A	c.(1423-1425)ttG>ttA	p.L475L	WDTC1_ENST00000361771.3_Silent_p.L474L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	475							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GTGATGCATTGGGCCGCGACA	0.542000													23	9					0	0	0.099896	0	0
COL15A1	1306	broad.mit.edu	37	9	101800963	101800963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr9:101800963T>A	ENST00000375001.3	+	22	2846	c.2423T>A	c.(2422-2424)aTc>aAc	p.I808N		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	808	Nonhelical region 4 (NC4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTGATCAATATCACCCATGGA	0.478000													27	99					0	0	0.125774	0	0
C15orf43	145645	broad.mit.edu	37	15	45253759	45253759	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr15:45253759G>C	ENST00000340827.3	+	4	342	c.325G>C	c.(325-327)Gac>Cac	p.D109H		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	109										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TTGGGAACAAGACCAACATTT	0.284000													3	63					0	0	0.115264	0	0
MIR181B1	406955	broad.mit.edu	37	1	198828018	198828018	+	RNA	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:198828018G>T	ENST00000385240.1	-	0	93					NR_029612.1																						GGCCACAGTTGCATTCATTGT	0.388000													14	25					1.49906e-05	1.65685e-05	0.119110	1	0
ZNF528	84436	broad.mit.edu	37	19	52905281	52905281	+	Splice_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:52905281G>A	ENST00000360465.3	+	4	441	c.15_splice	c.e4+1	p.Q5_splice	ZNF528_ENST00000598192.1_Splice_Site_p.Q5_splice|ZNF528_ENST00000391788.2_5'UTR|ZNF528_ENST00000594530.1_Splice_Site_p.Q5_splice	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CCCTTACTCAGGTAAGGTAAT	0.418000													5	26					0	0	0.021553	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891043	45891043	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:45891043C>A	ENST00000007414.3	-	15	1700	c.1509G>T	c.(1507-1509)ccG>ccT	p.P503P	OSBPL7_ENST00000392507.3_Silent_p.P503P	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	503					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GAGTGTTGAGCGGCTCGTTGA	0.632000													12	39					0.0167234	0.0171778	0.105934	1	0
CHML	1122	broad.mit.edu	37	1	241798800	241798800	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr1:241798800C>G	ENST00000366553.1	-	1	432	c.269G>C	c.(268-270)cGc>cCc	p.R90P	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	90					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATCCTTCTTGCGAAGAGTGAT	0.438000													82	148					0	0	0.139131	0	0
ATXN10	25814	broad.mit.edu	37	22	46114314	46114314	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr22:46114314C>T	ENST00000252934.5	+	6	934	c.669C>T	c.(667-669)ctC>ctT	p.L223L	ATXN10_ENST00000381061.4_Silent_p.L159L|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	223					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTACAGACCTCTTTCTGAAAA	0.418000													26	115					0	0	0.099896	0	0
PLEC	5339	broad.mit.edu	37	8	144995520	144995520	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:144995520G>A	ENST00000322810.4	-	32	9049	c.8880C>T	c.(8878-8880)cgC>cgT	p.R2960R	PLEC_ENST00000357649.2_Silent_p.R2827R|PLEC_ENST00000354958.2_Silent_p.R2801R|PLEC_ENST00000354589.3_Silent_p.R2823R|PLEC_ENST00000356346.3_Silent_p.R2809R|PLEC_ENST00000436759.2_Silent_p.R2850R|PLEC_ENST00000527096.1_Silent_p.R2846R|PLEC_ENST00000398774.2_Silent_p.R2791R|PLEC_ENST00000345136.3_Silent_p.R2823R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2960	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACGGGCACGCGGTGGCTGT	0.682000													12	101					0	0	0.105934	0	0
MUC16	94025	broad.mit.edu	37	19	9062481	9062481	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:9062481G>T	ENST00000397910.4	-	3	25168	c.24965C>A	c.(24964-24966)aCt>aAt	p.T8322N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8324	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAATTTGAAGTGGAACTGGT	0.502000													17	69					1.15088e-07	1.35103e-07	0.146539	1	0
GPATCH2L	55668	broad.mit.edu	37	14	76633013	76633013	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:76633013A>C	ENST00000261530.7	+	3	736	c.670A>C	c.(670-672)Agc>Cgc	p.S224R	GPATCH2L_ENST00000556663.1_Missense_Mutation_p.S224R|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.S224R|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.S224R	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		CAGTGAAACCAGCAGTGTGTG	0.433000													15	31					0	0	0.043863	0	0
OR4D11	219986	broad.mit.edu	37	11	59271271	59271271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:59271271T>C	ENST00000313253.1	+	1	223	c.223T>C	c.(223-225)Tcc>Ccc	p.S75P		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGCTTCTCCTCCACAACTGC	0.488000													41	80					0	0	0.086207	0	0
LRFN5	145581	broad.mit.edu	37	14	42356347	42356347	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:42356347G>T	ENST00000554171.1	+	5	2951	c.519G>T	c.(517-519)ttG>ttT	p.L173F	LRFN5_ENST00000554120.1_Missense_Mutation_p.L173F|LRFN5_ENST00000298119.4_Missense_Mutation_p.L173F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	173						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413000										HNSCC(30;0.082)			36	19					3.93418e-24	5.50785e-24	0.069456	1	0
OR5M10	390167	broad.mit.edu	37	11	56344727	56344727	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:56344727G>A	ENST00000526812.2	-	1	536	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTGTCTGAGAGAGCCCATTAA	0.468000													22	72					0	0	0.062417	0	0
SRRM2	23524	broad.mit.edu	37	16	2811881	2811881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr16:2811881G>A	ENST00000301740.8	+	11	1901	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	451	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGGTCCCACCGAGAGATTTCT	0.542000													4	134					0	0	0.014758	0	0
DPP10	57628	broad.mit.edu	37	2	116283477	116283477	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:116283477A>T	ENST00000410059.1	+	5	850	c.370A>T	c.(370-372)Acc>Tcc	p.T124S	DPP10_ENST00000310323.8_Missense_Mutation_p.T117S|DPP10_ENST00000409163.1_Missense_Mutation_p.T74S|DPP10_ENST00000393147.2_Missense_Mutation_p.T128S|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	124					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCTAGGTAACCTTCAAAGC	0.279000													6	41					0	0	0.021553	0	0
PNMA2	10687	broad.mit.edu	37	8	26365820	26365820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr8:26365820G>A	ENST00000522362.2	-	3	1346	c.452C>T	c.(451-453)gCa>gTa	p.A151V		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	151					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aggcgcatgtgccattgcctg	0.587000													10	36					0	0	0.058154	0	0
MEF2C	4208	broad.mit.edu	37	5	88047672	88047672	+	Splice_Site	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:88047672A>T	ENST00000504921.2	-	5	1262		c.e5+1		MEF2C_ENST00000506554.1_Splice_Site|MEF2C_ENST00000424173.2_Splice_Site|MEF2C_ENST00000514015.1_Splice_Site|MEF2C_ENST00000508569.1_Splice_Site|MEF2C_ENST00000503554.1_Splice_Site|MEF2C_ENST00000437473.2_Splice_Site|MEF2C_ENST00000539796.1_Splice_Site|MEF2C_ENST00000340208.5_Splice_Site|MEF2C_ENST00000514028.1_Splice_Site|MEF2C_ENST00000510942.1_Splice_Site			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C						apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATGAGGACATACCTGTGTTAC	0.453000										HNSCC(66;0.2)			43	105					0	0	0.111260	0	0
CDK12	51755	broad.mit.edu	37	17	37687138	37687138	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:37687138T>C	ENST00000447079.4	+	14	4075	c.4042T>C	c.(4042-4044)Ttc>Ctc	p.F1348L	CDK12_ENST00000430627.2_Missense_Mutation_p.F1339L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1348					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGAAACAGGGTTCAGTGCCAT	0.542000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			10	222					0	0	0.058154	0	0
AP2A1	160	broad.mit.edu	37	19	50306435	50306435	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:50306435G>T	ENST00000354293.5	+	17	2409	c.2243G>T	c.(2242-2244)cGa>cTa	p.R748L	AP2A1_ENST00000359032.5_Missense_Mutation_p.R770L	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	770					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TCAGAGTTCCGACAGAACCTG	0.617000													13	28					2.32078e-09	2.83902e-09	0.132662	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125281880	125281880	+	Splice_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr2:125281880G>A	ENST00000431078.1	+	9	1689	c.1324_splice	c.e9-1	p.G442_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	442	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTCTTGCAGGCAGCAACTTG	0.547000													26	27					0	0	0.125774	0	0
PLSCR1	5359	broad.mit.edu	37	3	146246596	146246597	+	Frame_Shift_Ins	INS	-	-	T	rs78850778	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:146246596_146246597insT	ENST00000342435.4	-	4	526_527	c.116_117insA	c.(115-117)tccfs	p.S39fs	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Frame_Shift_Ins_p.S32fs	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	39					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGGGCCCAGGGTAGCCACTATA	0.500													13	59	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs10592950		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)del	p.Q95del	TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567													20	21	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82580192	82580192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:82580192delC	ENST00000423517.2	-	6	10049	c.9712delG	c.(9712-9714)aafs	p.E3238fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.E3238fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3169	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTGACGTTCCCACTCCAAT	0.458													41	59	---	---	---	---					
WASL	8976	broad.mit.edu	37	7	123332620	123332621	+	Frame_Shift_Ins	INS	-	-	GGGG	rs138161611	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:123332620_123332621insGGGG	ENST00000223023.4	-	9	1459_1460	c.1127_1128insCCCC	c.(1126-1128)cccfs	p.P376fs		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	376	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGTGGAGGCGGTGGGGGTGG	0.644													13	115	---	---	---	---					
TRBV6-4	28603	broad.mit.edu	37	7	142251138	142251138	+	RNA	DEL	G	G	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:142251138delG	ENST00000390360.3	-	0	20																											TGATGCTCATGGCAGATGCTA	0.542													9	83	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77625233	77625234	+	Frame_Shift_Ins	INS	-	-	C	rs77140803	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr13:77625233_77625234insC	ENST00000407578.2	-	82	14085_14086	c.13819_13820insG	c.(13819-13821)tttfs	p.F4607fs	MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.F4569fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.F4569fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACAGAAAAAAACAGCCACTGAA	0.381													7	72	---	---	---	---					
TGM1	7051	broad.mit.edu	37	14	24727794	24727795	+	In_Frame_Ins	INS	-	-	ATGTCC			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:24727794_24727795insATGTCC	ENST00000206765.6	-	8	1367_1368	c.1244_1245insGGACAT	c.(1243-1245)ata>aGGACATta	p.415_415I>RTL	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	415					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CGTCGAAGTAGATGTCCATGGT	0.569													12	85	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													2	4	---	---	---	---					
AKAP1	8165	broad.mit.edu	37	17	55183751	55183771	+	In_Frame_Del	DEL	GCTTGGATAGAAATGAGGAGG	GCTTGGATAGAAATGAGGAGG	-	rs138803240	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:55183751_55183771delGCTTGGATAGAAATGAGGAGG	ENST00000337714.3	+	2	1159_1179	c.926_946delGCTTGGATAGAAATGAGGAGG	c.(925-948)agc>a	p.SLDRNEEG309del	AKAP1_ENST00000572557.1_In_Frame_Del_p.SLDRNEEG309del|AKAP1_ENST00000314126.3_In_Frame_Del_p.SLDRNEEG309del|AKAP1_ENST00000571629.1_In_Frame_Del_p.SLDRNEEG309del|AKAP1_ENST00000539273.1_In_Frame_Del_p.SLDRNEEG309del	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	309					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.G316S(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AATGAGGAGAGCTTGGATAGAAATGAGGAGGGCTTGGATAG	0.538													10	115	---	---	---	---					
APBA3	9546	broad.mit.edu	37	19	3752611	3752611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:3752611delC	ENST00000316757.3	-	8	1490	c.1290delG	c.(1288-1290)ggfs	p.G430fs		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	430	PDZ 1.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGCAGGCCCCCCGTGCA	0.746													11	4	---	---	---	---					
C19orf59	199675	broad.mit.edu	37	19	7743860	7743860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:7743860delA	ENST00000333598.3	+	6	992	c.538delA	c.(538-540)aafs	p.K180fs	CTD-3214H19.16_ENST00000597959.1_Frame_Shift_Del_p.E52fs|C19orf59_ENST00000597445.1_Frame_Shift_Del_p.K137fs	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	180						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GGTGCTGCAGAAAATGCCACG	0.577											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	RNA	INS	-	-	T	rs149794923	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332					NR_046099.1																						ggaccgggaaacagatgcttac	0.569													4	2	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24488121	24488121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr5:24488121delC	ENST00000264463.4	-	12	2525	c.2018delG	c.(2017-2019)gcfs	p.G673fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	673					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTCAGGGTGCCGATATCAAA	0.468										HNSCC(23;0.051)			18	32	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82580192	82580192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:82580192delC	ENST00000423517.2	-	6	10049	c.9712delG	c.(9712-9714)aafs	p.E3238fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.E3238fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3169	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTGACGTTCCCACTCCAAT	0.458													41	59	---	---	---	---					
TRBV6-4	28603	broad.mit.edu	37	7	142251138	142251138	+	RNA	DEL	G	G	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr7:142251138delG	ENST00000390360.3	-	0	20																											TGATGCTCATGGCAGATGCTA	0.542													9	83	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													5	1	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77625233	77625234	+	Frame_Shift_Ins	INS	-	-	C	rs77140803	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr13:77625233_77625234insC	ENST00000407578.2	-	82	14085_14086	c.13819_13820insG	c.(13819-13821)tttfs	p.F4607fs	MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.F4569fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.F4569fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACAGAAAAAAACAGCCACTGAA	0.381													7	72	---	---	---	---					
TGM1	7051	broad.mit.edu	37	14	24727794	24727795	+	In_Frame_Ins	INS	-	-	ATGTCC			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr14:24727794_24727795insATGTCC	ENST00000206765.6	-	8	1367_1368	c.1244_1245insGGACAT	c.(1243-1245)ata>aGGACATta	p.415_415I>RTL	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	415					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CGTCGAAGTAGATGTCCATGGT	0.569													12	85	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													38	36	---	---	---	---					
AKAP1	8165	broad.mit.edu	37	17	55183751	55183771	+	In_Frame_Del	DEL	GCTTGGATAGAAATGAGGAGG	GCTTGGATAGAAATGAGGAGG	-	rs138803240	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr17:55183751_55183771delGCTTGGATAGAAATGAGGAGG	ENST00000337714.3	+	2	1159_1179	c.926_946delGCTTGGATAGAAATGAGGAGG	c.(925-948)agc>a	p.SLDRNEEG309del	AKAP1_ENST00000572557.1_In_Frame_Del_p.SLDRNEEG309del|AKAP1_ENST00000314126.3_In_Frame_Del_p.SLDRNEEG309del|AKAP1_ENST00000571629.1_In_Frame_Del_p.SLDRNEEG309del|AKAP1_ENST00000539273.1_In_Frame_Del_p.SLDRNEEG309del	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	309					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.G316S(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AATGAGGAGAGCTTGGATAGAAATGAGGAGGGCTTGGATAG	0.538													10	115	---	---	---	---					
APBA3	9546	broad.mit.edu	37	19	3752611	3752611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:3752611delC	ENST00000316757.3	-	8	1490	c.1290delG	c.(1288-1290)ggfs	p.G430fs		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	430	PDZ 1.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGCAGGCCCCCCGTGCA	0.746													11	4	---	---	---	---					
C19orf59	199675	broad.mit.edu	37	19	7743860	7743860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91e9ac70-5524-4b13-9d53-7cec52b38ea5	d6ac7ee1-8970-4160-8cbe-c90ce8226214	g.chr19:7743860delA	ENST00000333598.3	+	6	992	c.538delA	c.(538-540)aafs	p.K180fs	CTD-3214H19.16_ENST00000597959.1_Frame_Shift_Del_p.E52fs|C19orf59_ENST00000597445.1_Frame_Shift_Del_p.K137fs	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	180						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GGTGCTGCAGAAAATGCCACG	0.577											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---