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
UPK1A	11045	broad.mit.edu	37	19	36164418	36164418	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:36164418A>C	ENST00000222275.2	+	4	439	c.439A>C	c.(439-441)Acc>Ccc	p.T147P	UPK1A_ENST00000379013.2_Missense_Mutation_p.T147P	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	147					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGAGCTGACCCGCCTCTG	0.637000													4	18					0	0	0.000219431	0	0
TEX9	374618	broad.mit.edu	37	15	56719929	56719929	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr15:56719929A>G	ENST00000537232.1	+	11	1326	c.865A>G	c.(865-867)Agg>Ggg	p.R289G	TEX9_ENST00000560582.1_Intron|TEX9_ENST00000352903.2_Missense_Mutation_p.R364G|MNS1_ENST00000566386.1_Intron			Q8N6V9	TEX9_HUMAN	testis expressed 9	364										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TGTTTTAAAAAGGCAAAAGGT	0.244000													3	165					0	0	6.4e-05	0	0
MAP1A	4130	broad.mit.edu	37	15	43820775	43820775	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr15:43820775C>T	ENST00000382031.1	+	5	7849	c.7818C>T	c.(7816-7818)aaC>aaT	p.N2606N	MAP1A_ENST00000399453.1_Silent_p.N2368N|MAP1A_ENST00000300231.5_Silent_p.N2368N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2368						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCCCTAACCCCCCAGGCC	0.642000													7	29					0	0	0.000157383	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	13					0.000602214	0.00504139	0.000602214	1	0
DPP6	1804	broad.mit.edu	37	7	154681011	154681011	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:154681011G>A	ENST00000404039.1	+	24	2729	c.2142G>A	c.(2140-2142)gcG>gcA	p.A714A	DPP6_ENST00000427557.1_Silent_p.A671A|DPP6_ENST00000377770.3_Silent_p.A778A|DPP6_ENST00000332007.3_Silent_p.A716A	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	778					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGTCTCCGCGCTGGAAGAAC	0.537000													5	17					0	0	0.000602214	0	0
NOX1	27035	broad.mit.edu	37	X	100099014	100099014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:100099014C>T	ENST00000372966.3	-	13	1827	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	NOX1_ENST00000217885.5_Missense_Mutation_p.R492H|NOX1_ENST00000372960.4_Missense_Mutation_p.R504H|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	541					angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACAGCATTTGCGCAGGCTCTT	0.428000													5	18					0	0	0.000602214	0	0
OBSL1	23363	broad.mit.edu	37	2	220432935	220432935	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:220432935C>T	ENST00000289656.3	-	0	182				OBSL1_ENST00000373873.4_Missense_Mutation_p.R375H|OBSL1_ENST00000265318.4_Missense_Mutation_p.R375H|OBSL1_ENST00000404537.1_Missense_Mutation_p.R375H|OBSL1_ENST00000373876.1_Missense_Mutation_p.R375H|OBSL1_ENST00000603926.1_Missense_Mutation_p.R375H			O75147	OBSL1_HUMAN	obscurin-like 1						cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGGTCCTCACGGAACCAGGC	0.637000											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	31					0	0	0.000274275	0	0
SMG8	55181	broad.mit.edu	37	17	57287434	57287434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:57287434C>T	ENST00000543872.2	+	2	286	c.22C>T	c.(22-24)Cga>Tga	p.R8*	SMG8_ENST00000300917.5_Nonsense_Mutation_p.R8*|SMG8_ENST00000578922.1_Nonsense_Mutation_p.R8*|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_3'UTR			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	8					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CGTGAGCTTGCGAGACCTTCT	0.597000													9	13					0	0	0.000442599	0	0
PLEKHJ1	55111	broad.mit.edu	37	19	2234193	2234193	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:2234193G>A	ENST00000589097.1	-	5	1389	c.276C>T	c.(274-276)agC>agT	p.S92S	PLEKHJ1_ENST00000588545.1_Silent_p.S73S|PLEKHJ1_ENST00000591099.1_Intron|PLEKHJ1_ENST00000587962.1_Silent_p.S92S|PLEKHJ1_ENST00000586608.1_Intron|PLEKHJ1_ENST00000326631.2_Silent_p.S92S|PLEKHJ1_ENST00000587394.1_Silent_p.S92S|PLEKHJ1_ENST00000589791.1_5'UTR			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	92	PH.						protein binding	p.S92R(1)		endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGCTCCTCGCTGCTGCACT	0.632000													13	60					0	0	0.00136819	0	0
GLS2	27165	broad.mit.edu	37	12	56866515	56866515	+	Silent	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:56866515C>G	ENST00000311966.4	-	15	1748	c.1470G>C	c.(1468-1470)ctG>ctC	p.L490L		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	490					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCAAATAACAGGTTGACCA	0.438000													3	84					0	0	0.00024832	0	0
TPH2	121278	broad.mit.edu	37	12	72335511	72335511	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:72335511C>G	ENST00000333850.3	+	2	394	c.253C>G	c.(253-255)Cag>Gag	p.Q85E	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	85	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GAGGCTCTTTCAGGTGAATGT	0.398000													13	76					0	0	0.00185496	0	0
ELAC1	55520	broad.mit.edu	37	18	48500811	48500811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:48500811G>A	ENST00000269466.3	+	2	144	c.37G>A	c.(37-39)Gca>Aca	p.A13T	SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|ELAC1_ENST00000591429.1_Missense_Mutation_p.A13T|RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.A13T|ELAC1_ENST00000588577.1_Missense_Mutation_p.A13T	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	13					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GACGGGTGCAGCATACCCATC	0.507000													9	50					0	0	0.000442599	0	0
UCHL1	7345	broad.mit.edu	37	4	41265298	41265298	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:41265298C>T	ENST00000284440.4	+	7	660	c.516C>T	c.(514-516)ctC>ctT	p.L172L	UCHL1_ENST00000503431.1_Silent_p.L172L|UCHL1_ENST00000508768.1_Silent_p.L156L|UCHL1_ENST00000512788.1_Silent_p.L172L	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	172					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						ATGGCCACCTCTATGAACTTG	0.343000													12	90					0	0	0.00136819	0	0
SYNE3	161176	broad.mit.edu	37	14	95921755	95921755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:95921755C>T	ENST00000334258.5	-	5	1110	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R	SYNE3_ENST00000557275.1_Missense_Mutation_p.G366R|SYNE3_ENST00000553340.1_Missense_Mutation_p.G366R|SYNE3_ENST00000554873.1_Missense_Mutation_p.G123R	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						TCCTCGGTCCCCGCTTTCGCC	0.652000													17	55					0	0	0.00074312	0	0
PAX1	5075	broad.mit.edu	37	20	21687285	21687285	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:21687285G>A	ENST00000398485.2	+	2	550	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	PAX1_ENST00000444366.2_Missense_Mutation_p.G142R|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	166	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						CGGGGCCATCGGGGGGAGCAA	0.647000													18	89					0	0	0.000566183	0	0
PTPRM	5797	broad.mit.edu	37	18	8379226	8379226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:8379226G>A	ENST00000332175.8	+	26	4672	c.3635G>A	c.(3634-3636)cGg>cAg	p.R1212Q	PTPRM_ENST00000400053.4_Missense_Mutation_p.R1150Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1226Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1225Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.R999Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1212	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGTTGCCCCGGAACCATGAG	0.547000													18	102					0	0	0.00074312	0	0
CCDC88A	55704	broad.mit.edu	37	2	55571557	55571557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:55571557C>T	ENST00000436346.1	-	11	1976	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E379K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E379K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E379K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	379					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTCTAATTCATGTAATTTA	0.318000													8	58					0	0	0.000157383	0	0
SF3B3	23450	broad.mit.edu	37	16	70597896	70597896	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:70597896G>A	ENST00000302516.5	+	18	2617	c.2406G>A	c.(2404-2406)acG>acA	p.T802T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	802					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCATTGAAACGGACCACAATG	0.463000													14	89					0	0	0.00185496	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729231	18729231	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:18729231T>C	ENST00000600490.1	+	8	1014	c.829T>C	c.(829-831)Tcc>Ccc	p.S277P	TMEM59L_ENST00000262817.3_Missense_Mutation_p.S277P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	277						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCTCTTCCTCTCCGTGCTGGT	0.697000													3	26					0	0	0.00024832	0	0
ZNF512	84450	broad.mit.edu	37	2	27830785	27830785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:27830785G>A	ENST00000355467.4	+	10	1093	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Missense_Mutation_p.R308Q|ZNF512_ENST00000556601.1_Missense_Mutation_p.R206Q|ZNF512_ENST00000379717.1_Missense_Mutation_p.R336Q|ZNF512_ENST00000413371.2_Missense_Mutation_p.R260Q			Q96ME7	ZN512_HUMAN	zinc finger protein 512	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGTGGGGGCCGAGTTCAGAGA	0.512000													12	49					0	0	0.00185496	0	0
CHD6	84181	broad.mit.edu	37	20	40192707	40192707	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:40192707G>C	ENST00000373222.3	-	2	119	c.81C>G	c.(79-81)tgC>tgG	p.C27W	CHD6_ENST00000309279.7_Intron|CHD6_ENST00000373233.3_Intron			Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2338					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				tgggatttgggcaacttattt	0.398000													9	39					0	0	0.000673444	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114379	27114379	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:27114379C>T	ENST00000396891.4	-	1	240	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.V67I	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	67					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ATGTCGTTGACGAAGGAGTTC	0.592000													18	254					0	0	0.00152264	0	0
GPR112	139378	broad.mit.edu	37	X	135487937	135487937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:135487937G>A	ENST00000394143.1	+	23	9032	c.8741G>A	c.(8740-8742)tGc>tAc	p.C2914Y	GPR112_ENST00000412101.1_Missense_Mutation_p.C2709Y|GPR112_ENST00000394141.1_Missense_Mutation_p.C2709Y|GPR112_ENST00000287534.4_Missense_Mutation_p.C2667Y|GPR112_ENST00000370652.1_Missense_Mutation_p.C2914Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2914					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C2914F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCATGTTCTGCACTGTTCTT	0.398000													24	65					0	0	0.000295444	0	0
ATP5D	513	broad.mit.edu	37	19	1244103	1244103	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:1244103C>T	ENST00000215375.2	+	3	404	c.303C>T	c.(301-303)agC>agT	p.S101S	ATP5D_ENST00000591660.1_Silent_p.S101S|ATP5D_ENST00000395633.1_Silent_p.S101S	NM_001687.4	NP_001678.1	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	101					mitochondrial ATP synthesis coupled proton transport|oxidative phosphorylation|respiratory electron transport chain|response to copper ion	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			large_intestine(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGTGAGCAGCGGTTCCATCG	0.647000											OREG0025113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0	0	6.4e-05	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183863	48183863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:48183863C>T	ENST00000396720.3	+	6	1630	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	479							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGCGCCCCGGCGGTCCAGCTC	0.697000													11	23					0	0	0.000978159	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431686	56431686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:56431686T>G	ENST00000302969.2	+	1	549	c.525T>G	c.(523-525)aaT>aaG	p.N175K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATATCATCAATCATTTCTTCT	0.483000													39	246					0	0	0.00128727	0	0
CKS1B	1163	broad.mit.edu	37	1	154947264	154947264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:154947264G>A	ENST00000368436.1	+	1	106	c.43G>A	c.(43-45)Gag>Aag	p.E15K	CKS1B_ENST00000368439.1_5'UTR|CKS1B_ENST00000308987.5_Missense_Mutation_p.E15K			P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	15					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATACGACGACGAGGAGTTTGA	0.547000													6	34					0	0	0.00116845	0	0
NR3C2	4306	broad.mit.edu	37	4	149356634	149356634	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:149356634A>T	ENST00000355292.3	-	2	1741	c.1379T>A	c.(1378-1380)tTt>tAt	p.F460Y	NR3C2_ENST00000358102.3_Missense_Mutation_p.F460Y|NR3C2_ENST00000511528.1_Missense_Mutation_p.F460Y|NR3C2_ENST00000512865.1_Missense_Mutation_p.F460Y|NR3C2_ENST00000344721.4_Missense_Mutation_p.F460Y|NR3C2_ENST00000342437.4_Missense_Mutation_p.F460Y			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	460	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)	ATCATCCATAAAGGAAAAATA	0.418000													10	52					0	0	0.000442599	0	0
ZNF610	162963	broad.mit.edu	37	19	52869877	52869877	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:52869877A>T	ENST00000601151.1	+	5	1569	c.1117A>T	c.(1117-1119)Acc>Tcc	p.T373S	ZNF610_ENST00000327920.8_Missense_Mutation_p.T416S|ZNF610_ENST00000321287.8_Missense_Mutation_p.T416S|ZNF610_ENST00000403906.3_Missense_Mutation_p.T416S	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATTATACCTAACCAACCATCA	0.423000													11	53					0	0	0.000673444	0	0
PCDH10	57575	broad.mit.edu	37	4	134072411	134072411	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:134072411G>A	ENST00000264360.4	+	1	1942	c.1116G>A	c.(1114-1116)gcG>gcA	p.A372A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	372	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGGCGCGGCGCCCGGCACTG	0.617000													13	95					0	0	0.00136819	0	0
UTRN	7402	broad.mit.edu	37	6	144769778	144769778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:144769778C>T	ENST00000367545.3	+	16	1945	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	649	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCAGATTCCTCAGAAGGACCT	0.413000													10	78					0	0	0.000673444	0	0
SOX11	6664	broad.mit.edu	37	2	5833121	5833121	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:5833121C>T	ENST00000322002.3	+	1	323	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	90					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTGGAAAATGCTGAAGGACAG	0.587000													15	48					0	0	0.000219431	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698642	70698642	+	Missense_Mutation	SNP	C	C	T	rs149700961		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:70698642C>T	ENST00000338779.6	-	14	1604	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	444					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						AGGTCACTGGCGGCGGGGGAC	0.672000													7	19					0	0	0.000157383	0	0
PSG8	440533	broad.mit.edu	37	19	43258661	43258661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:43258661G>A	ENST00000404209.4	-	5	1163	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	PSG8_ENST00000401467.2_Missense_Mutation_p.A263V|PSG8_ENST00000306511.4_Missense_Mutation_p.A356V|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.A234V	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	356	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTAGAGTCCGCAGAACAGGA	0.453000													53	237					0	0	0.000781405	0	0
RASA1	5921	broad.mit.edu	37	5	86674234	86674234	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr5:86674234G>T	ENST00000456692.2	+	18	1950	c.1835G>T	c.(1834-1836)cGa>cTa	p.R612L	RASA1_ENST00000512763.1_Missense_Mutation_p.R622L|RASA1_ENST00000506290.1_Missense_Mutation_p.R623L|RASA1_ENST00000274376.6_Missense_Mutation_p.R789L	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	789	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.R789Q(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACCCTATTTCGAGCCACAACA	0.353000													16	25					1.67942e-08	1.43321e-07	0.00074312	1	0
GCN1L1	10985	broad.mit.edu	37	12	120582810	120582810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:120582810G>A	ENST00000300648.6	-	40	5084	c.5072C>T	c.(5071-5073)tCg>tTg	p.S1691L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1691					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCAAAGCACGACTCCCCCAT	0.592000													10	91					0	0	0.000442599	0	0
ZNF329	79673	broad.mit.edu	37	19	58639337	58639337	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:58639337G>A	ENST00000598312.1	-	4	1767	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	ZNF329_ENST00000358067.4_Missense_Mutation_p.R512W	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGAGGACACCGGCTGGGACCC	0.507000													63	106					0	0	0.000781405	0	0
NDNF	79625	broad.mit.edu	37	4	121958733	121958733	+	Silent	SNP	A	A	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:121958733A>G	ENST00000379692.4	-	4	919	c.393T>C	c.(391-393)aaT>aaC	p.N131N	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	131										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ACTCAACATCATTGCCTTTGT	0.403000													15	63					0	0	0.000422831	0	0
CACNG7	59284	broad.mit.edu	37	19	54416119	54416119	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:54416119C>T	ENST00000391767.1	+	2	246	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CACNG7_ENST00000391766.1_Silent_p.L12L|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Silent_p.L12L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	12					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTGACCCTGCTGAGCAGCGT	0.632000													7	41					0	0	8.12818e-05	0	0
AP5M1	55745	broad.mit.edu	37	14	57747048	57747048	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:57747048G>A	ENST00000261558.3	+	3	1262	c.856G>A	c.(856-858)Gat>Aat	p.D286N	AP5M1_ENST00000431972.2_Missense_Mutation_p.D300N|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	286	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											TAGTAGTATTGATGCAATGGA	0.423000													56	127					0	0	0.000781405	0	0
NLRP11	204801	broad.mit.edu	37	19	56300195	56300195	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:56300195C>G	ENST00000443188.1	-	11	3543	c.2833G>C	c.(2833-2835)Gat>Cat	p.D945H	NLRP11_ENST00000592953.1_Missense_Mutation_p.D846H|NLRP11_ENST00000589824.2_Missense_Mutation_p.D891H|NLRP11_ENST00000589093.1_Missense_Mutation_p.D945H|NLRP11_ENST00000360133.3_Missense_Mutation_p.D891H	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	945							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGTACACAATCTGGGCTGATC	0.353000													11	50					0	0	0.000673444	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40847683	40847683	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:40847683C>T	ENST00000264638.4	+	19	3354	c.3137C>T	c.(3136-3138)cCg>cTg	p.P1046L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1046					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TATGATACTCCGGGCTATGTG	0.657000													15	56					0	0	0.000308642	0	0
APPL2	55198	broad.mit.edu	37	12	105589401	105589401	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:105589401T>C	ENST00000258530.3	-	12	1282	c.1057A>G	c.(1057-1059)Ata>Gta	p.I353V	APPL2_ENST00000551662.1_Missense_Mutation_p.I359V|APPL2_ENST00000539978.2_Missense_Mutation_p.I310V	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	353	PH.|Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGAGGATTATTCCCCTGAAA	0.408000													15	59					0	0	0.000566183	0	0
TRIML2	205860	broad.mit.edu	37	4	189012783	189012783	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:189012783C>A	ENST00000512729.1	-	7	1282	c.908G>T	c.(907-909)tGg>tTg	p.W303L	TRIML2_ENST00000326754.3_Missense_Mutation_p.W328L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	303	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGGGAAGACCCAGAGAGTCCA	0.552000													35	124					8.4185e-14	7.39986e-13	0.000409698	1	0
HPS4	89781	broad.mit.edu	37	22	26849348	26849348	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr22:26849348C>T	ENST00000398145.2	-	14	2594	c.1978G>A	c.(1978-1980)Gcc>Acc	p.A660T	HPS4_ENST00000493455.2_Intron|HPS4_ENST00000402105.3_Missense_Mutation_p.A655T|HPS4_ENST00000336873.5_Missense_Mutation_p.A660T|HPS4_ENST00000398141.1_Missense_Mutation_p.A673T	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	660					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTGCAACAGGCGTACACAGCC	0.562000									Hermansky-Pudlak syndrome				16	105					0	0	0.000308642	0	0
PKD1	5310	broad.mit.edu	37	16	2158447	2158447	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:2158447G>C	ENST00000262304.4	-	15	6929	c.6721C>G	c.(6721-6723)Ctg>Gtg	p.L2241V	PKD1_ENST00000423118.1_Missense_Mutation_p.L2241V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2241	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCTGTGTCAGTGGCGTGTCC	0.652000													13	61					0	0	0.00185496	0	0
ZNF14	7561	broad.mit.edu	37	19	19823301	19823301	+	Silent	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:19823301G>T	ENST00000344099.3	-	4	927	c.789C>A	c.(787-789)ccC>ccA	p.P263P		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GAAAGTATGTGGGACAACTGA	0.388000													5	67					0.00116845	0.00968928	0.00116845	1	0
ESPNP	284729	broad.mit.edu	37	1	17023143	17023143	+	RNA	SNP	C	C	T	rs559507	by1000genomes	TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:17023143C>T	ENST00000492551.1	-	0	1720					NR_026567.1																						TGTGGGGCTCCGGACTGGTAA	0.692000													4	16					0	0	0.000602214	0	0
EPG5	57724	broad.mit.edu	37	18	43467768	43467768	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:43467768C>T	ENST00000282041.5	-	29	5091	c.5057G>A	c.(5056-5058)cGt>cAt	p.R1686H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1686					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGGGGGATGACGCTGCGTCTC	0.448000													16	79					0	0	0.000422831	0	0
AAR2	25980	broad.mit.edu	37	20	34827959	34827959	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:34827959T>G	ENST00000373932.3	+	2	515	c.169T>G	c.(169-171)Ttc>Gtc	p.F57V	AAR2_ENST00000320849.4_Missense_Mutation_p.F57V|AAR2_ENST00000397286.3_Missense_Mutation_p.F57V	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		AGGCATCCACTTCCTCCACTA	0.572000													7	81					0	0	8.12818e-05	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746122	23746122	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:23746122G>A	ENST00000357460.5	-	2	479	c.315C>T	c.(313-315)gcC>gcT	p.A105A	HOMEZ_ENST00000561013.1_Silent_p.A107A|HOMEZ_ENST00000431326.2_Silent_p.A107A	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	105						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGAGGCGCTGGGCCATAAACC	0.502000													33	201					0	0	0.000339439	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661312	22661312	+	RNA	SNP	T	T	C	rs3855711		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr22:22661312T>C	ENST00000426066.1	+	0	360					NR_027293.1																						TGAATTTGTGTAGAACTTTGA	0.473000													3	40					0	0	8.12818e-05	0	0
DDX52	11056	broad.mit.edu	37	17	35981216	35981216	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:35981216T>C	ENST00000349699.2	-	11	1500	c.1457A>G	c.(1456-1458)aAc>aGc	p.N486S	DDX52_ENST00000394367.3_Missense_Mutation_p.N378S	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	486	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				AAAGTCATAGTTGATCACCAA	0.433000													17	26					0	0	0.00074312	0	0
CACNA1A	773	broad.mit.edu	37	19	13395974	13395974	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:13395974C>T	ENST00000360228.5	-	21	3599	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	CACNA1A_ENST00000573710.2_Silent_p.E1201E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1201					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	cctccttcttctcttcctctt	0.527000													28	43					0	0	0.000339439	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49962338	49962338	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:49962338G>A	ENST00000293350.4	+	3	478	c.315G>A	c.(313-315)ctG>ctA	p.L105L	ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000598015.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.L105L|ALDH16A1_ENST00000433981.2_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	105							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCAGCACCTGACCAGGTGAT	0.642000													14	94					0	0	0.000219431	0	0
STAB2	55576	broad.mit.edu	37	12	104069765	104069765	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:104069765G>T	ENST00000388887.2	+	24	2816	c.2612G>T	c.(2611-2613)tGc>tTc	p.C871F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	871	EGF-like 8.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGGACCCTTGCACAGGACTA	0.438000													9	54					7.48243e-07	6.32409e-06	0.000442599	1	0
ZNF799	90576	broad.mit.edu	37	19	12502821	12502821	+	Missense_Mutation	SNP	A	A	G	rs2902319		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:12502821A>G	ENST00000419318.1	-	4	1044	c.295T>C	c.(295-297)Tat>Cat	p.Y99H	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H|ZNF799_ENST00000430385.3_Missense_Mutation_p.Y131H|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y131H(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGATACTCATATGGTTTGTGC	0.448000													3	117					0	0	0.00024832	0	0
KIAA0586	9786	broad.mit.edu	37	14	58917303	58917303	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:58917303T>C	ENST00000423743.3	+	9	1094	c.836T>C	c.(835-837)tTa>tCa	p.L279S	KIAA0586_ENST00000354386.6_Missense_Mutation_p.L376S|KIAA0586_ENST00000556134.1_Missense_Mutation_p.L308S|KIAA0586_ENST00000261244.5_Missense_Mutation_p.L323S|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	323										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAGCACCTTTAAAAGAAGTT	0.308000													11	38					0	0	0.000978159	0	0
MMP15	4324	broad.mit.edu	37	16	58074525	58074525	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:58074525C>T	ENST00000219271.3	+	5	1618	c.833C>T	c.(832-834)gCg>gTg	p.A278V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	278					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCATCATGGCGCCGTTCTAC	0.612000													33	72					0	0	0.000339439	0	0
MUC16	94025	broad.mit.edu	37	19	9088852	9088852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:9088852G>T	ENST00000397910.4	-	1	3166	c.2963C>A	c.(2962-2964)tCt>tAt	p.S988Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	988	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						AGAAGTGGCAGAGGTTGAAAC	0.463000													55	241					1.19403e-26	1.07098e-25	0.000781405	1	0
MGMT	4255	broad.mit.edu	37	10	131565233	131565233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr10:131565233C>T	ENST00000306010.7	+	5	721	c.689C>T	c.(688-690)tCg>tTg	p.S230L		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	230										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGAGCTACCTCGGGCTCCCCG	0.632000								Direct reversal of damage					6	26					0	0	0.00116845	0	0
RSRC2	65117	broad.mit.edu	37	12	123001845	123001845	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:123001845C>A	ENST00000331738.7	-	5	676	c.531G>T	c.(529-531)agG>agT	p.R177S	RSRC2_ENST00000354654.2_Missense_Mutation_p.R129S	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	177	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GGGAACGAGACCTGATCCGCC	0.493000													23	123					3.5997e-14	3.1961e-13	0.000295444	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120348886	120348886	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:120348886C>G	ENST00000397843.2	+	37	3720	c.3554C>G	c.(3553-3555)tCt>tGt	p.S1185C	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S1082C|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S1166C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1185					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGATTAGAATCTACCTTAATA	0.383000			T	MLL	AML								8	42					0	0	0.000157383	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798843	57798843	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:57798843T>G	ENST00000302622.3	+	1	442	c.419T>G	c.(418-420)gTg>gGg	p.V140G	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGGGCTTTTGTGTCCTGGGGC	0.507000													20	124					0	0	0.00121646	0	0
NCAM2	4685	broad.mit.edu	37	21	22804480	22804480	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr21:22804480G>A	ENST00000400546.1	+	12	1782	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	NCAM2_ENST00000284894.7_Silent_p.T369T	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	511	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CGCAGACCACGGCCAAGGTTT	0.448000													6	48					0	0	8.12818e-05	0	0
IL17RB	55540	broad.mit.edu	37	3	53883814	53883814	+	Missense_Mutation	SNP	G	G	A	rs145364776	by1000genomes	TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:53883814G>A	ENST00000288167.3	+	3	227	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	73					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TGGGTACTCCGGGCAGATGGT	0.443000													44	70					0	0	0.000589545	0	0
KCNG4	93107	broad.mit.edu	37	16	84270386	84270386	+	Missense_Mutation	SNP	C	C	T	rs138891680	byFrequency	TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:84270386C>T	ENST00000568181.1	-	2	826	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	KCNG4_ENST00000308251.4_Missense_Mutation_p.V236I			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	236						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACAGGCTGACGGCTGTGGTG	0.657000													19	21					0	0	0.00188189	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092672	143092672	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:143092672C>T	ENST00000367603.2	-	5	3946	c.3204G>A	c.(3202-3204)acG>acA	p.T1068T	HIVEP2_ENST00000012134.2_Silent_p.T1068T|HIVEP2_ENST00000367604.1_Silent_p.T1068T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1068					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACGGTGATACCGTGGAGGCTG	0.557000													9	35					0	0	0.000442599	0	0
OR5H15	403274	broad.mit.edu	37	3	97887689	97887689	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:97887689T>C	ENST00000356526.2	+	1	146	c.146T>C	c.(145-147)aTc>aCc	p.I49T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATTGCTGTCATCTGGAAAGAC	0.423000													87	146					0	0	0.000781405	0	0
STYXL1	51657	broad.mit.edu	37	7	75634686	75634686	+	Missense_Mutation	SNP	C	C	T	rs147059565		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:75634686C>T	ENST00000451157.1	-	6	659	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	STYXL1_ENST00000248600.1_Missense_Mutation_p.V164M|STYXL1_ENST00000340062.5_Missense_Mutation_p.V68M|STYXL1_ENST00000431581.1_Missense_Mutation_p.V164M|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Missense_Mutation_p.V164M			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	164	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	p.V164M(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTCCCTGGCACGATTTCAATG	0.478000													19	49					0	0	0.000958276	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182317	140182317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr5:140182317C>T	ENST00000522353.2	+	1	1535	c.1535C>T	c.(1534-1536)gCg>gTg	p.A512V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512V|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTACACGCGGAGAGCGGC	0.706000													7	124					0	0	8.12818e-05	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551696	1551696	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:1551696C>T	ENST00000381605.4	-	4	903	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	280	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTGTAGTCCCCGGGGGTAGAA	0.537000													38	68					0	0	0.000814825	0	0
CCRN4L	25819	broad.mit.edu	37	4	139965866	139965866	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:139965866C>T	ENST00000280614.2	+	3	727	c.534C>T	c.(532-534)ctC>ctT	p.L178L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	178					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					GGAAATGTCTCATCCTGGAAG	0.463000													21	74					0	0	0.00188189	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		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.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(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)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	7					0	0	0.000157383	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659381	176659381	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:176659381G>T	ENST00000367662.3	+	5	3410	c.2246G>T	c.(2245-2247)aGt>aTt	p.S749I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S749I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	749	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAAGGAGTCAGTGAAAGAGAA	0.547000													19	147					5.03518e-11	4.33914e-10	0.000958276	1	0
SZT2	23334	broad.mit.edu	37	1	43905594	43905594	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:43905594A>G	ENST00000562955.1	+	50	6914	c.6914A>G	c.(6913-6915)aAg>aGg	p.K2305R	SZT2_ENST00000372442.1_Missense_Mutation_p.K1463R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2362						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTGTGGGAAAAGGGGAACATT	0.577000													3	84					0	0	6.4e-05	0	0
TRPV4	59341	broad.mit.edu	37	12	110236702	110236702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:110236702G>A	ENST00000418703.2	-	5	963	c.869C>T	c.(868-870)tCg>tTg	p.S290L	TRPV4_ENST00000537083.1_Missense_Mutation_p.S290L|TRPV4_ENST00000392719.2_Missense_Mutation_p.S243L|TRPV4_ENST00000544971.1_Missense_Mutation_p.S243L|TRPV4_ENST00000261740.2_Missense_Mutation_p.S290L|TRPV4_ENST00000541794.1_Missense_Mutation_p.S243L|TRPV4_ENST00000346520.2_Missense_Mutation_p.S290L|TRPV4_ENST00000536838.1_Missense_Mutation_p.S256L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	290					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGCAGCCAGCGACAGGGGCAG	0.677000													13	58					0	0	0.00185496	0	0
RYR1	6261	broad.mit.edu	37	19	38980889	38980889	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:38980889C>T	ENST00000355481.4	+	36	6119	c.5988C>T	c.(5986-5988)cgC>cgT	p.R1996R	RYR1_ENST00000360985.3_Silent_p.R1996R|RYR1_ENST00000359596.3_Silent_p.R1996R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1996	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACGTACCCGCGAGTTCCGCT	0.572000													14	29					0	0	0.000219431	0	0
BAX	581	broad.mit.edu	37	19	49458947	49458947	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:49458947C>T	ENST00000391871.3	+	2	87	c.38C>T	c.(37-39)tCa>tTa	p.S13L	BAX_ENST00000415969.2_Silent_p.F30F|BAX_ENST00000293288.8_Silent_p.F30F|BAX_ENST00000539787.1_Silent_p.F30F|BAX_ENST00000345358.7_Silent_p.F30F|BAX_ENST00000354470.3_Intron			Q07812	BAX_HUMAN	BCL2-associated X protein	13					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ACTCTAGTTTCATCCAGGATC	0.582000													11	75					0	0	0.00136819	0	0
SLC6A6	6533	broad.mit.edu	37	3	14499524	14499524	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:14499524C>T	ENST00000454876.2	+	6	995	c.666C>T	c.(664-666)ctC>ctT	p.L222L	SLC6A6_ENST00000360861.3_Silent_p.L222L|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	222					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ACCTCGCTCTCTGCCTTCTTT	0.562000													25	101					0	0	0.000720815	0	0
IKBKB	3551	broad.mit.edu	37	8	42175203	42175203	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr8:42175203A>T	ENST00000520810.1	+	12	1340	c.1154A>T	c.(1153-1155)gAt>gTt	p.D385V	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.D383V|IKBKB_ENST00000379708.3_Missense_Mutation_p.D162V|IKBKB_ENST00000416505.2_Missense_Mutation_p.D326V	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	385					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TTGGACATGGATCTTGTTTTT	0.413000													13	49					0	0	0.00136819	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318845	21318845	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:21318845C>T	ENST00000583088.1	+	3	1086	c.191C>T	c.(190-192)tCa>tTa	p.S64L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S64L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GACGAGAAGTCACAGCGCTAC	0.592000										Prostate(3;0.18)			5	66					0	0	0.000602214	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099180	92099180	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:92099180G>A	ENST00000493463.2	-	1	1439	c.516C>T	c.(514-516)ctC>ctT	p.L172L	ERVW-1_ENST00000603053.1_Silent_p.L172L|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		172					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						ggagcccagtgagggtggtat	0.488000													11	41					0	0	0.000673444	0	0
VPS13D	55187	broad.mit.edu	37	1	12428620	12428620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:12428620C>T	ENST00000358136.3	+	53	10676	c.10546C>T	c.(10546-10548)Cct>Tct	p.P3516S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P3491S|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3515					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTTACCTCCTCCTTTCCGAAT	0.463000													38	76					0	0	0.00111076	0	0
PCLO	27445	broad.mit.edu	37	7	82584839	82584839	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:82584839G>T	ENST00000423517.2	-	5	5767	c.5430C>A	c.(5428-5430)gaC>gaA	p.D1810E	PCLO_ENST00000333891.8_Missense_Mutation_p.D1810E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1741					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						GTTCATCTTTGTCTTTCTTTG	0.393000													32	145					5.60225e-13	4.87562e-12	0.00178596	1	0
LINC01122	400955	broad.mit.edu	37	2	58687298	58687298	+	RNA	DEL	T	T	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:58687298delT	ENST00000452840.1	+	0	127																											TCTGTGTTTCTTTTTTTTTTC	0.313													4	7	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	RNA	INS	-	-	AAA	rs71401156		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:217475031_217475032insAAA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376													3	5	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcc>gc	p.AA13del		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													5	7	---	---	---	---					
SIRT1	23411	broad.mit.edu	37	10	69644867	69644869	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr10:69644867_69644869delGAG	ENST00000212015.6	+	1	441_443	c.388_390delGAG	c.(388-390)del	p.E134del		NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	134	Interaction with HIST1H1E.|Poly-Glu.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						cgacgagggcgaggaggaggaag	0.709													2	4	---	---	---	---					
OR8J3	81168	broad.mit.edu	37	11	55904668	55904671	+	Frame_Shift_Del	DEL	TGAT	TGAT	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:55904668_55904671delTGAT	ENST00000301529.1	-	1	523_526	c.524_527delATCA	c.(523-528)atfs	p.NH175fs		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACAGTAAAAATGATTGATTATATT	0.358													11	106	---	---	---	---					
EEA1	8411	broad.mit.edu	37	12	93205154	93205158	+	Frame_Shift_Del	DEL	CTTGT	CTTGT	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:93205154_93205158delCTTGT	ENST00000322349.8	-	17	2360_2364	c.2096_2100delACAAG	c.(2095-2100)gfs	p.DK699fs		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	699	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AATGTTCTTGCTTGTCTTGTAACTT	0.337													7	38	---	---	---	---					
TM9SF2	9375	broad.mit.edu	37	13	100206567	100206570	+	Frame_Shift_Del	DEL	CACC	CACC	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr13:100206567_100206570delCACC	ENST00000376387.4	+	14	1688_1691	c.1498_1501delCACC	c.(1498-1503)cafs	p.HP500fs		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	500					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GGCCATTGAACACCCAGTTCGAAC	0.417													23	94	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs57759840		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102																											ctctctctctctctctctTTTTTTTTT	0.415													7	7	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578446	7578466	+	In_Frame_Del	DEL	TGGCCATGGCGCGGACGCGGG	TGGCCATGGCGCGGACGCGGG	-	rs139200646		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:7578446_7578466delTGGCCATGGCGCGGACGCGGG	ENST00000420246.2	-	5	596_616	c.464_484delCCCGCGTCCGCGCCATGGCCA	c.(463-486)atc>a	p.TRVRAMAI155del	TP53_ENST00000455263.2_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000445888.2_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000413465.2_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000269305.4_In_Frame_Del_p.TRVRAMAI155del|TP53_ENST00000359597.4_In_Frame_Del_p.TRVRAMAI155del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.R158L(77)|p.R158H(74)|p.A161T(54)|p.A159V(33)|p.R156P(24)|p.T155N(22)|p.A159P(19)|p.R158C(17)|p.R158G(16)|p.T155I(14)|p.A161D(11)|p.R156fs*14(11)|p.I162F(10)|p.V157I(10)|p.R156H(10)|p.R158P(9)|p.V157D(8)|p.A159A(8)|p.A161V(8)|p.R26L(8)|p.R65L(8)|p.0?(8)|p.V157G(7)|p.A159T(7)|p.A159D(7)|p.V157L(6)|p.V25F(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.M160I(6)|p.V64F(6)|p.R158fs(6)|p.R158R(6)|p.V157V(5)|p.A159fs*11(5)|p.I162V(5)|p.R26H(5)|p.A161A(5)|p.R65H(5)|p.?(5)|p.T155T(5)|p.A159S(4)|p.R158_A159insX(4)|p.M160K(4)|p.M160V(4)|p.P152fs*14(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.A68T(3)|p.M160fs*10(3)|p.A29T(3)|p.A161fs*9(3)|p.R156L(3)|p.M160L(3)|p.I162fs*10(3)|p.V157fs*13(3)|p.R65fs(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.A27P(2)|p.R26fs(2)|p.R156C(2)|p.A66P(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.A159fs*21(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.R65G(2)|p.R158_A159delRA(2)|p.I162fs*19(2)|p.P153fs*22(2)|p.R156_V157del(1)|p.V157A(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.A161P(1)|p.I30fs*10(1)|p.M160_A161>IS(1)|p.V157_R158delVR(1)|p.T155_A161delTRVRAMA(1)|p.A161S(1)|p.A161F(1)|p.A161G(1)|p.A27V(1)|p.V157_C176del20(1)|p.A161fs*19(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.R156fs*20(1)|p.M160T(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_V157insV(1)|p.A161fs*20(1)|p.A161fs*8(1)|p.A66V(1)|p.S149fs*72(1)|p.T62N(1)|p.V157_M160delVRAM(1)|p.A161fs*7(1)|p.R65fs*11(1)|p.I69fs*10(1)|p.A29D(1)|p.I162fs*8(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.T62I(1)|p.A161fs*10(1)|p.I162_Y163delIY(1)|p.T23N(1)|p.T23I(1)|p.D148fs*23(1)|p.T155_R156delTR(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.P151_V173del23(1)|p.V157_I162delVRAMAI(1)|p.R156_A161del(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(1)|p.T155S(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)		TGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGG	0.620		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)			10	45	---	---	---	---					
PRR12	57479	broad.mit.edu	37	19	50100303	50100305	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:50100303_50100305delCGG	ENST00000418929.2	+	4	2723_2725	c.2711_2713delCGG	c.(2710-2715)tag>t	p.SE904del		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	83	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCACCAAACTCGGAGGGCAAGGA	0.690													3	4	---	---	---	---					
TKTL1	8277	broad.mit.edu	37	X	153524304	153524305	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:153524304_153524305insGC	ENST00000369915.3	+	1	281_282	c.92_93insGC	c.(91-93)tcgfs	p.S31fs	TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	31					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCAGCCGCTTGCGAATCCATT	0.614													30	129	---	---	---	---					
