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
VAT1L	57687	broad.mit.edu	37	16	77850946	77850946	+	Splice_Site	SNP	A	A	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr16:77850946A>G	ENST00000302536.2	+	2	515	c.362A>G	c.(361-363)gAg>gGg	p.E121G		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	121							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AAAGGATATGAGGTAATGTTT	0.433000													13	124					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864634	22864634	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr8:22864634C>T	ENST00000251822.6	+	5	1413	c.876C>T	c.(874-876)ttC>ttT	p.F292F	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.F314F|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.F299F	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	292	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.F292L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCTCCAAGTTCTATGACCTGT	0.637000													6	95					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003254	50003254	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr11:50003254T>A	ENST00000335238.4	-	1	817	c.784A>T	c.(784-786)Act>Tct	p.T262S		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATGGGCAGAGTGGTCACTGAG	0.438000													37	34					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109777877	109777877	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:109777877G>A	ENST00000369923.4	+	7	804	c.793G>A	c.(793-795)Gag>Aag	p.E265K	SARS_ENST00000234677.2_Missense_Mutation_p.E265K			P49591	SYSC_HUMAN	seryl-tRNA synthetase	265					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CTCCTATGATGAGAAGTACCT	0.552000													16	138					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72744326	72744326	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr7:72744326G>A	ENST00000252037.4	+	4	508	c.439G>A	c.(439-441)Gag>Aag	p.E147K	FKBP6_ENST00000413573.2_Missense_Mutation_p.E117K|FKBP6_ENST00000431982.2_Missense_Mutation_p.E142K	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	147					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGACTGTGCTGAGTCAGACAA	0.493000													23	70					0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58938273	58938273	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr15:58938273C>T	ENST00000260408.3	-	6	1159	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	239	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	p.R239Q(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CACAGCTTCTCGTGTTCCGTA	0.318000													22	37					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159900011	159900011	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:159900011C>T	ENST00000368094.1	-	15	2229	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.E662K	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	678	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCTCTGTTTCTGTGCCTGCC	0.617000													20	359					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475883	52475883	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:52475883C>T	ENST00000231721.2	-	5	501	c.502G>A	c.(502-504)Ggg>Agg	p.G168R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	168	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGGCACCGCCCCCGGCCACTT	0.662000													5	8					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19388681	19388681	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:19388681C>T	ENST00000247001.5	-	12	1990	c.1643G>A	c.(1642-1644)cGt>cAt	p.R548H		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	548					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GTCAGGCTCACGGCCCTCCTG	0.582000													29	55					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154886371	154886371	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:154886371A>G	ENST00000460393.1	+	19	1991	c.1871A>G	c.(1870-1872)tAt>tGt	p.Y624C	MME_ENST00000360490.2_Missense_Mutation_p.Y624C|MME_ENST00000493237.1_Missense_Mutation_p.Y624C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Missense_Mutation_p.Y624C|MME_ENST00000462745.1_Missense_Mutation_p.Y624C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	624					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TGCATGGTGTATCAGTATGGA	0.403000													6	93					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020489	32020489	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:32020489C>T	ENST00000375244.3	-	26	9274	c.9073G>A	c.(9073-9075)Gag>Aag	p.E3025K	TNXB_ENST00000375247.2_Missense_Mutation_p.E3023K			P22105	TENX_HUMAN	tenascin XB	3070	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGCTGCCCCTCGTGGAGGCCG	0.662000													24	62					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37555177	37555177	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr20:37555177C>T	ENST00000217429.4	+	1	223	c.182C>T	c.(181-183)tCa>tTa	p.S61L		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	31					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TTCAGCGAGTCACGGCGCCTG	0.731000													4	17					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47868857	47868857	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:47868857G>C	ENST00000446256.2	+	6	600	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	DHX30_ENST00000445061.1_Missense_Mutation_p.E49Q|DHX30_ENST00000457607.1_Missense_Mutation_p.E77Q|DHX30_ENST00000348968.4_Missense_Mutation_p.E21Q	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	49						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCTATTAAAAGAGTTCCCACA	0.418000													26	63					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36169311	36169311	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:36169311C>T	ENST00000357641.6	+	2	1465	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	BRPF3_ENST00000534400.1_Silent_p.I404I|BRPF3_ENST00000543502.1_Silent_p.I404I|BRPF3_ENST00000534694.1_Silent_p.I404I|BRPF3_ENST00000443324.2_Silent_p.I404I|BRPF3_ENST00000339717.7_Silent_p.I404I	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	404					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTAGAAGCATCAGTGAGACTG	0.587000													11	22					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35846991	35846991	+	Missense_Mutation	SNP	C	C	T	rs141283034		TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr9:35846991C>T	ENST00000377996.1	+	9	2233	c.818C>T	c.(817-819)aCg>aTg	p.T273M	TMEM8B_ENST00000377991.4_Splice_Site_p.T273M|TMEM8B_ENST00000377988.2_Splice_Site_p.T273M|TMEM8B_ENST00000439587.2_Missense_Mutation_p.T273M			A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	273					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TTCTTCTCCACGGTATGCGGT	0.532000													13	146					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136857251	136857251	+	Silent	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr9:136857251G>C	ENST00000371851.1	-	1	475	c.150C>G	c.(148-150)ctC>ctG	p.L50L	VAV2_ENST00000371850.3_Silent_p.L50L|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000406606.3_Silent_p.L50L			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	50	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AGCCGGGGGAGAGGTTGTGCA	0.726000													10	9					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46766443	46766443	+	Missense_Mutation	SNP	C	C	T	rs145982918		TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr16:46766443C>T	ENST00000394809.4	-	4	1254	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	MYLK3_ENST00000536476.1_Missense_Mutation_p.R39H	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	380					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTGGAGGCAGCGCCCGGTCCC	0.687000													9	31					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47242064	47242064	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:47242064C>G	ENST00000391910.3	-	2	814	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	STRN4_ENST00000539396.1_Missense_Mutation_p.E3Q|STRN4_ENST00000263280.6_Missense_Mutation_p.E122Q			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	122						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AGCGCATACTCTAGCATCTTG	0.607000													39	46					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161999	43161999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr21:43161999C>A	ENST00000352483.2	-	9	1562	c.1498G>T	c.(1498-1500)Gag>Tag	p.E500*	RIPK4_ENST00000332512.3_Nonsense_Mutation_p.E452*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.E389*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.E389*			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	452						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTGGCGCACTCCTCTTGCCCG	0.657000													135	48					2.51472e-61	2.83523e-61	1	1	0
KCNQ4	9132	broad.mit.edu	37	1	41284238	41284238	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:41284238C>T	ENST00000347132.5	+	4	676	c.594C>T	c.(592-594)ttC>ttT	p.F198F	KCNQ4_ENST00000509682.2_Silent_p.F198F	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	198					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GCAACATCTTCGCCACGTCCG	0.687000													5	54					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711822	135711822	+	Silent	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:135711822G>C	ENST00000264157.5	+	9	1827	c.1797G>C	c.(1795-1797)ctG>ctC	p.L599L	CCNT2_ENST00000295238.6_Silent_p.L599L|CCNT2_ENST00000537343.1_Silent_p.L424L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	599					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CCACTGTTCTGAGGAGTCCTG	0.562000													23	39					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236908068	236908068	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:236908068G>A	ENST00000366578.4	+	12	1564	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	ACTN2_ENST00000542672.1_Silent_p.Q466Q|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	466					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCATCGCGCAGGAGCTCAAGT	0.647000													34	23					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38328845	38328845	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr22:38328845C>T	ENST00000215957.6	+	12	2310	c.2184C>T	c.(2182-2184)ctC>ctT	p.L728L	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	728						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGTTCAAGCTCATCCACGAGA	0.617000													15	32					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864592	22864592	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr8:22864592C>G	ENST00000251822.6	+	5	1371	c.834C>G	c.(832-834)atC>atG	p.I278M	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.I300M|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.I285M	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	278	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGTGCGCATCTTTGCCCACA	0.657000													6	99					0	0	1	0	0
RP11-93K22.13	0	broad.mit.edu	37	3	129811985	129811985	+	RNA	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:129811985C>G	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							CCTTCCTTCTCTCGTCTGTGT	0.448000													17	40					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86702242	86702242	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr15:86702242G>A	ENST00000441037.2	+	4	430	c.335G>A	c.(334-336)cGc>cAc	p.R112H	AGBL1_ENST00000421325.2_Missense_Mutation_p.R112H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	112					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACCCGAAAGCGCACCCAAGCA	0.443000													14	65					0	0	1	0	0
MLN	4295	broad.mit.edu	37	6	33766905	33766905	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:33766905C>T	ENST00000430124.2	-	3	276	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	MLN_ENST00000507738.1_Missense_Mutation_p.E71K|MLN_ENST00000266003.5_Missense_Mutation_p.E71K	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	71					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						TTTTCTTCTTCCCTGATGGGC	0.542000													57	64					0	0	1	0	0
MAGIX	79917	broad.mit.edu	37	X	49021244	49021244	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:49021244A>C	ENST00000376338.3	+	2	225	c.146A>C	c.(145-147)cAg>cCg	p.Q49P	MAGIX_ENST00000498742.1_Splice_Site|MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000412696.2_Missense_Mutation_p.Q108P|MAGIX_ENST00000376339.1_Missense_Mutation_p.Q49P			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	108																	CAATTGATCCAGGGTAAGGCA	0.552000													21	272					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93720082	93720082	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:93720082G>C	ENST00000343253.7	+	24	3752	c.3250G>C	c.(3250-3252)Gag>Cag	p.E1084Q	CCDC18_ENST00000401026.3_Missense_Mutation_p.E1085Q|CCDC18_ENST00000557479.1_Missense_Mutation_p.E1203Q|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000334652.5_3'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1084										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCGAGAAAAAGAGTTTATAAT	0.289000													78	36					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123519767	123519767	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:123519767G>A	ENST00000422452.2	-	29	5899	c.5836C>T	c.(5836-5838)Cca>Tca	p.P1946S	TENM1_ENST00000371130.3_Missense_Mutation_p.P1939S|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGTCCGGTGGGGTGTAGATG	0.507000													64	68					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57863379	57863379	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr12:57863379C>G	ENST00000228682.2	+	11	1565	c.1474C>G	c.(1474-1476)Ctg>Gtg	p.L492V	GLI1_ENST00000543426.1_Missense_Mutation_p.L364V|GLI1_ENST00000546141.1_Missense_Mutation_p.L451V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	492					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGCACTGGTCTGTCCACTCT	0.582000													35	45					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274343	39274343	+	Silent	SNP	A	A	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:39274343A>G	ENST00000391413.2	-	1	263	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	75	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGGGCGACAGCAGCTGG	0.657000													4	62					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72278800	72278800	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr12:72278800G>A	ENST00000550746.1	+	5	617	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	TBC1D15_ENST00000319106.8_Splice_Site_p.E193K|TBC1D15_ENST00000485960.2_Splice_Site_p.E185K|TBC1D15_ENST00000393309.3_Intron	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	185							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTATTGTGTGAGTAAGTATC	0.348000													14	20					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77292581	77292581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr4:77292581G>A	ENST00000388914.3	-	9	1290	c.1138C>T	c.(1138-1140)Caa>Taa	p.Q380*		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	380										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AACAGCTTTTGAAGTTGATCA	0.358000													5	41					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767884	57767884	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr20:57767884G>A	ENST00000371030.2	+	1	1810	c.1810G>A	c.(1810-1812)Ggc>Agc	p.G604S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	604						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGAGCGGGCGGCAGGAAGTG	0.612000													9	111					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77638062	77638062	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:77638062G>T	ENST00000461745.1	+	17	3561	c.2661G>T	c.(2659-2661)agG>agT	p.R887S	ROBO2_ENST00000487694.3_Missense_Mutation_p.R903S|ROBO2_ENST00000332191.8_Missense_Mutation_p.R887S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	887					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAAAGAAGAGGAAGGGACTCA	0.408000													8	72					0.0381472	0.0386514	1	1	0
ECM2	1842	broad.mit.edu	37	9	95277072	95277072	+	Nonsense_Mutation	SNP	G	G	A	rs138357265		TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr9:95277072G>A	ENST00000344604.5	-	4	1044	c.895C>T	c.(895-897)Cga>Tga	p.R299*	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Nonsense_Mutation_p.R277*	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	299					cell-matrix adhesion		integrin binding	p.R299*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GAGGGCATTCGGAACATATCT	0.617000													9	83					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153647890	153647890	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:153647890G>A	ENST00000299328.5	+	6	758	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	TAZ_ENST00000475699.1_Intron|TAZ_ENST00000369790.4_Missense_Mutation_p.V127I|TAZ_ENST00000350743.4_Missense_Mutation_p.V127I|TAZ_ENST00000369776.4_Missense_Mutation_p.V102I|TAZ_ENST00000351413.4_Missense_Mutation_p.V157I	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	157	Hydrophilic.				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					AGGAGATGGCGTCTACCAGAA	0.552000													9	45					0	0	1	0	0
CCL7	6354	broad.mit.edu	37	17	32598177	32598177	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:32598177C>T	ENST00000378569.2	+	2	159	c.89C>T	c.(88-90)aCt>aTt	p.T30I	CCL7_ENST00000394627.1_Missense_Mutation_p.L48F|CCL7_ENST00000200307.4_Missense_Mutation_p.T40I|CCL7_ENST00000394630.3_Intron	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	30				T -> K (in Ref. 6; AA sequence).	cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GGGATTAATACTTCAACTACC	0.443000													28	56					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375290	8375290	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr12:8375290C>G	ENST00000538603.1	-	7	1081	c.523G>C	c.(523-525)Gac>Cac	p.D175H	FAM90A1_ENST00000307435.6_Missense_Mutation_p.D175H	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	175							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GAGCCCCTGTCAGACATTTCG	0.572000													19	69					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159907584	159907584	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:159907584G>C	ENST00000368094.1	-	4	489	c.292C>G	c.(292-294)Ctc>Gtc	p.L98V	IGSF9_ENST00000361509.3_Missense_Mutation_p.L98V	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	98	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCACCCGGAGACCCTCAATC	0.612000													105	18					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194980	18194980	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr11:18194980C>T	ENST00000314254.3	+	1	597	c.177C>T	c.(175-177)aaC>aaT	p.N59N	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	59						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGCGCAGGAACGCTGTCTCCA	0.547000													10	61					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111650886	111650886	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:111650886C>G	ENST00000435970.1	-	27	8672	c.7856G>C	c.(7855-7857)aGa>aCa	p.R2619T	REV3L_ENST00000358835.3_Missense_Mutation_p.R2697T|REV3L_ENST00000368802.3_Missense_Mutation_p.R2697T|REV3L_ENST00000368805.1_Missense_Mutation_p.R2697T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2697					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CACCATAAATCTAGTCTTCAA	0.383000								DNA polymerases (catalytic subunits)					31	28					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098827	11098827	+	RNA	SNP	C	C	T	rs79274499	by1000genomes	TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr21:11098827C>T	ENST00000470054.1	-	0	98									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccatccagagcgagacgagcc	0.637000													5	69					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10092308	10092308	+	Silent	SNP	C	C	T	rs144439055		TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:10092308C>T	ENST00000380861.4	+	13	2146	c.1755C>T	c.(1753-1755)aaC>aaT	p.N585N	WWC3_ENST00000454666.1_Silent_p.N585N	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	585										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGTTCAGGAACGAAGATGCCG	0.562000													27	65					0	0	1	0	0
FBXL22	283807	broad.mit.edu	37	15	63893733	63893733	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr15:63893733C>A	ENST00000360587.2	+	2	632	c.592C>A	c.(592-594)Cca>Aca	p.P198T	FBXL22_ENST00000539570.3_Missense_Mutation_p.P192T|USP3-AS1_ENST00000561256.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	192										lung(4)	4						ACCGCCACCTCCAGGAGCCCC	0.746000													2	1					1	1	1	1	0
EAPP	55837	broad.mit.edu	37	14	34998597	34998597	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr14:34998597C>T	ENST00000250454.3	-	4	518	c.437G>A	c.(436-438)aGa>aAa	p.R146K		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	146					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		p.R146K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GGCCTGATCTCTGTTATCTTT	0.308000													45	34					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42473622	42473622	+	Missense_Mutation	SNP	C	C	T	rs149600313	byFrequency	TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:42473622C>T	ENST00000545399.1	-	19	2845	c.2692G>A	c.(2692-2694)Gtc>Atc	p.V898I	ATP1A3_ENST00000543770.1_Missense_Mutation_p.V896I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V855I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V885I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	885					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGTCATTGACGGTGCGGTCA	0.592000													51	86					0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73921437	73921437	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr8:73921437G>A	ENST00000276602.6	+	1	339	c.316G>A	c.(316-318)Gag>Aag	p.E106K	TERF1_ENST00000276603.5_Missense_Mutation_p.E106K	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	106	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			CAACAGCGCAGAGGGTGAGTG	0.706000													15	52					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20442361	20442361	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr16:20442361C>T	ENST00000331849.4	+	9	1319	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	391					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAGTCTGGATCCATGGGGAAG	0.527000													57	150					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967260	21967260	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr14:21967260G>T	ENST00000298717.4	-	10	1691	c.1540C>A	c.(1540-1542)Cca>Aca	p.P514T	TOX4_ENST00000262709.3_3'UTR|TOX4_ENST00000405508.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	514					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ATTTCATCTGGTTTATGACTG	0.383000													19	23					1.15919e-05	1.21188e-05	1	1	0
RANBP17	64901	broad.mit.edu	37	5	170343486	170343486	+	Silent	SNP	T	T	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr5:170343486T>C	ENST00000523189.1	+	9	1016	c.852T>C	c.(850-852)gtT>gtC	p.V284V		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	284					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATGTTTAGTTCAGTTTGCTT	0.328000			T	TRD@	ALL								16	90					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52441220	52441220	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:52441220C>T	ENST00000460680.1	-	7	1021	c.550G>A	c.(550-552)Gat>Aat	p.D184N	BAP1_ENST00000296288.5_Missense_Mutation_p.D184N	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	184		Important for enzyme activity (By similarity).			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TTCAGCCCATCCAGCTCAAAG	0.597000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							15	32					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	167					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52441221	52441221	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:52441221C>T	ENST00000460680.1	-	7	1020	c.549G>A	c.(547-549)ctG>ctA	p.L183L	BAP1_ENST00000296288.5_Silent_p.L183L	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	183					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCAGCCCATCCAGCTCAAAGA	0.597000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							15	33					0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86124414	86124414	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr8:86124414C>G	ENST00000418930.2	+	7	1099	c.903C>G	c.(901-903)atC>atG	p.I301M	E2F5_ENST00000416274.2_Missense_Mutation_p.I302M|E2F5_ENST00000517476.1_Missense_Mutation_p.I141M|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Missense_Mutation_p.I129M|E2F5_ENST00000256117.5_Missense_Mutation_p.I303M			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	302	Transactivation (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.I302I(1)		NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTGGAGATATCATTGATGAGT	0.299000													10	41					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1102508	1102508	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr11:1102508C>T	ENST00000441003.2	+	45	7919	c.7892C>T	c.(7891-7893)aCg>aTg	p.T2631M		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4993						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTGAACAGACGCACTGTATC	0.617000													10	9					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122962433	122962433	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr12:122962433C>T	ENST00000543897.1	-	11	2941	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E196K|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E434K|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E45K			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	434						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAGTTGCTTTCATTCTTCTGC	0.448000													14	55					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25229012	25229012	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:25229012C>T	ENST00000399916.1	-	6	1329	c.891G>A	c.(889-891)acG>acA	p.T297T	RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000338888.3_Silent_p.T297T|RUNX3_ENST00000308873.6_Silent_p.T283T	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	283	Pro/Ser/Thr-rich.			MP -> IS (in Ref. 2; CAA56093).	cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TGCCCGAGGGCGTGGCGCTGT	0.701000													64	24					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61607487	61607487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:61607487G>T	ENST00000398571.2	-	7	907	c.831C>A	c.(829-831)tgC>tgA	p.C277*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	277					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCGAGAGCTTGCATAAATACC	0.353000													10	33					7.48243e-07	7.89431e-07	1	1	0
WASF1	8936	broad.mit.edu	37	6	110434535	110434535	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:110434535C>A	ENST00000392589.1	-	5	1098	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	WASF1_ENST00000392588.1_Nonsense_Mutation_p.E88*|WASF1_ENST00000359451.2_Nonsense_Mutation_p.E88*|WASF1_ENST00000392586.1_Nonsense_Mutation_p.E88*|WASF1_ENST00000392587.2_Nonsense_Mutation_p.E88*	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	88					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TTACATTCTTCTTCCTTTGGA	0.294000													8	34					5.18039e-06	5.44059e-06	1	1	0
MFSD2A	84879	broad.mit.edu	37	1	40435205	40435205	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:40435205G>A	ENST00000372809.5	+	14	1740	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	MFSD2A_ENST00000372811.5_Missense_Mutation_p.E520K|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.E364K	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	533					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGGCTGCTCAGAAACAGACTC	0.612000													17	9					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122765116	122765116	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr4:122765116G>A	ENST00000264499.4	-	12	1454	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F	BBS7_ENST00000506636.1_Missense_Mutation_p.S424F	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	424					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACAACAGCAGAATTTTTATC	0.289000									Bardet-Biedl syndrome				7	16					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751507	140751507	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr5:140751507G>A	ENST00000576222.1	+	1	1677	c.1546G>A	c.(1546-1548)Gcg>Acg	p.A516T	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTGTTCGCGCAGCGAGC	0.672000													44	48					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136595211	136595211	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr9:136595211C>G	ENST00000371872.4	-	5	1046	c.789G>C	c.(787-789)caG>caC	p.Q263H	SARDH_ENST00000371867.1_Missense_Mutation_p.Q174H|SARDH_ENST00000422262.2_Missense_Mutation_p.Q95H|SARDH_ENST00000439388.1_Missense_Mutation_p.Q263H|SARDH_ENST00000298628.5_Missense_Mutation_p.Q263H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	263					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGCAGGGTGTCTGGATGGAAC	0.602000													32	30					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711927	135711927	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:135711927G>A	ENST00000264157.5	+	9	1932	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	CCNT2_ENST00000295238.6_Missense_Mutation_p.M634I|CCNT2_ENST00000537343.1_Missense_Mutation_p.M459I	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	634					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ACTCCAAAATGAGCAAAAGTT	0.453000													32	61					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195452815	195452815	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:195452815G>A	ENST00000320736.6	+	3	954	c.828G>A	c.(826-828)acG>acA	p.T276T	MUC20_ENST00000436408.1_Silent_p.T447T|MUC20_ENST00000445522.2_Silent_p.T412T|MUC20_ENST00000447234.2_Silent_p.T447T			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	447	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCATCCCCACGGAAGGGGTGA	0.537000													6	58					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36287388	36287388	+	Splice_Site	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:36287388C>G	ENST00000437635.2	-	11	1846		c.e11-1			NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222											breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCGCCTGATCTGGAAGTGGA	0.582000													19	50					0	0	1	0	0
GMPPB	29925	broad.mit.edu	37	3	49759505	49759505	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:49759505C>G	ENST00000480687.1	-	9	960	c.844G>C	c.(844-846)Gat>Cat	p.D282H	GMPPB_ENST00000308388.6_Missense_Mutation_p.D282H|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Missense_Mutation_p.D282H			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	282					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACACACCATCTTCGACCACC	0.632000													19	48					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93595998	93595998	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:93595998C>T	ENST00000394236.3	-	14	1998	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	PROS1_ENST00000407433.1_Missense_Mutation_p.R430Q	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	561	Laminin G-like 2.		R -> G (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GGCCTGTATCCGATATATTAC	0.373000													16	46					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62196640	62196640	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr20:62196640C>T	ENST00000467148.1	-	8	3604	c.3535G>A	c.(3535-3537)Gga>Aga	p.G1179R	HELZ2_ENST00000427522.2_Missense_Mutation_p.G610R	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCCTTGTCTCCCGAAAGGAGC	0.697000													6	20					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96043642	96043642	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr10:96043642G>A	ENST00000371380.3	+	20	5126	c.4891G>A	c.(4891-4893)Gat>Aat	p.D1631N	PLCE1-AS1_ENST00000440198.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.D1323N|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000260766.3_Missense_Mutation_p.D1631N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D1323N|PLCE1-AS1_ENST00000425267.3_RNA			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGAAAGCAGATAACTCTGC	0.373000													24	41					0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118726373	118726373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:118726373G>A	ENST00000371527.1	-	1	740	c.88C>T	c.(88-90)Caa>Taa	p.Q30*	NKRF_ENST00000542113.1_Nonsense_Mutation_p.Q45*|NKRF_ENST00000304449.5_Nonsense_Mutation_p.Q30*	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	30	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TGGCGTTTTTGACCTTTGGAA	0.413000													8	73					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	95034781	95034781	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr13:95034781C>T	ENST00000377047.4	+	7	1881	c.1266C>T	c.(1264-1266)tgC>tgT	p.C422C		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	422						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGGAGGAATGCTGGAACGGGC	0.547000													32	67					0	0	1	0	0
PAGE1	8712	broad.mit.edu	37	X	49458749	49458749	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:49458749G>A	ENST00000376150.3	-	3	251	c.119C>T	c.(118-120)tCt>tTt	p.S40F		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	40					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					AGCAGGTGTAGAATCCTGACT	0.483000													8	7					0	0	1	0	0
TDGF1	6997	broad.mit.edu	37	3	46622679	46622679	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:46622679C>G	ENST00000296145.5	+	6	1239	c.506C>G	c.(505-507)tCt>tGt	p.S169C	TDGF1_ENST00000542931.1_Missense_Mutation_p.S153C	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	169					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTACCACCGTCTGCACGTACT	0.438000													17	38					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69733151	69733151	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr15:69733151C>T	ENST00000260363.4	+	18	2229	c.2112C>T	c.(2110-2112)ctC>ctT	p.L704L	KIF23_ENST00000395392.2_Silent_p.L704L|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000352331.4_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	704					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GCCAGCAACTCATGAGCCAGC	0.408000													24	38					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52441434	52441434	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:52441434C>T	ENST00000460680.1	-	6	889	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	BAP1_ENST00000296288.5_Missense_Mutation_p.A140T	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	140					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTATTATGGGCCTTGGCCAAC	0.522000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							35	62					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	12					0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74722447	74722447	+	Silent	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:74722447C>A	ENST00000445478.2	-	1	314	c.111G>T	c.(109-111)ctG>ctT	p.L37L	JMJD6_ENST00000585429.1_Silent_p.L37L|JMJD6_ENST00000397625.4_Silent_p.L37L	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	37					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CCGCCGGGCTCAGCGAGAAGC	0.706000													5	11					0.000602214	0.000618345	1	1	0
SESTD1	91404	broad.mit.edu	37	2	180008470	180008470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:180008470G>T	ENST00000428443.3	-	9	1014	c.698C>A	c.(697-699)tCa>tAa	p.S233*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	233					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGAGACCATGAAACCCCTCC	0.403000													35	35					1.03484e-13	1.11743e-13	1	1	0
STAG2	10735	broad.mit.edu	37	X	123185189	123185189	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:123185189G>A	ENST00000371160.1	+	13	1431	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	STAG2_ENST00000218089.9_Missense_Mutation_p.D381N|STAG2_ENST00000371157.3_Missense_Mutation_p.D381N|STAG2_ENST00000371145.3_Missense_Mutation_p.D381N|STAG2_ENST00000371144.3_Missense_Mutation_p.D381N|STAG2_ENST00000354548.5_Missense_Mutation_p.D312N|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	381					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TATGACCCTTGACAAAGAATA	0.284000													46	101					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111650824	111650824	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:111650824C>T	ENST00000435970.1	-	27	8734	c.7918G>A	c.(7918-7920)Gat>Aat	p.D2640N	REV3L_ENST00000358835.3_Missense_Mutation_p.D2718N|REV3L_ENST00000368802.3_Missense_Mutation_p.D2718N|REV3L_ENST00000368805.1_Missense_Mutation_p.D2718N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2718					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGACGCGCATCAAGCATTCGT	0.413000								DNA polymerases (catalytic subunits)					44	44					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63631447	63631447	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:63631447T>C	ENST00000409120.1	-	4	4145	c.595A>G	c.(595-597)Att>Gtt	p.I199V	WDPCP_ENST00000272321.7_Missense_Mutation_p.I391V|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Missense_Mutation_p.I199V|WDPCP_ENST00000398544.3_Missense_Mutation_p.I232V|WDPCP_ENST00000409562.3_Missense_Mutation_p.I391V			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	391					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						ACTAGCAGAATGGCACCACTT	0.448000													21	92					0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42946338	42946338	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:42946338G>A	ENST00000304611.8	-	1	620	c.551C>T	c.(550-552)tCc>tTc	p.S184F	PEX6_ENST00000244546.4_Missense_Mutation_p.S184F	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	184					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AACCGCAAAGGAGGACACCAC	0.677000													7	14					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355863	201355863	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:201355863G>C	ENST00000391967.2	-	3	927	c.626C>G	c.(625-627)tCa>tGa	p.S209*	LAD1_ENST00000367313.3_Nonsense_Mutation_p.S223*	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	209	8 X SEK repeats.					basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGTCTTCTCTGAGGCCAGCAC	0.473000													19	216					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57759748	57759748	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:57759748G>C	ENST00000269122.3	+	22	3833	c.3559G>C	c.(3559-3561)Gaa>Caa	p.E1187Q	CLTC_ENST00000393043.1_Missense_Mutation_p.E1187Q|CLTC_ENST00000579456.1_Missense_Mutation_p.E124Q	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1187	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGCAGAGTTAGAAGAATTTAT	0.423000			T	"""ALK, TFE3"""	"""ALCL, renal """								9	86					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518370	45518370	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr21:45518370C>T	ENST00000291574.4	+	21	3476	c.3301C>T	c.(3301-3303)Ctg>Ttg	p.L1101L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1101					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGATGAAGCACTGACTGAATC	0.522000													90	35					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198498526	198498526	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:198498526C>G	ENST00000295049.4	-	4	1170	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						AGTTCTTCCTCAATTCCGCTT	0.403000													34	129					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27958638	27958638	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:27958638C>G	ENST00000269033.3	-	15	3644	c.3493G>C	c.(3493-3495)Gag>Cag	p.E1165Q	SSH2_ENST00000540801.1_Missense_Mutation_p.E1192Q|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1165					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGAGGGCTCTCCTGACTTTCT	0.527000													45	61					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77292663	77292663	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr4:77292663G>A	ENST00000388914.3	-	9	1208	c.1056C>T	c.(1054-1056)gtC>gtT	p.V352V		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	352										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTTGGCAAGGACTAACTGCT	0.383000													7	44					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113679872	113679872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr11:113679872C>A	ENST00000003302.4	-	17	2145	c.2077G>T	c.(2077-2079)Gag>Tag	p.E693*	USP28_ENST00000544967.1_Nonsense_Mutation_p.E401*|USP28_ENST00000260188.5_Nonsense_Mutation_p.E693*|USP28_ENST00000545540.1_Nonsense_Mutation_p.E568*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	693					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E693Q(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCCCACTCCTCTACTTCCTGC	0.473000													72	256					3.28884e-47	3.68992e-47	1	1	0
ROCK2	9475	broad.mit.edu	37	2	11367383	11367383	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:11367383C>G	ENST00000315872.6	-	6	1313	c.865G>C	c.(865-867)Gtg>Ctg	p.V289L	ROCK2_ENST00000401753.1_Missense_Mutation_p.V46L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	289	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TACTTACCCACTAGCATCTCA	0.333000													35	86					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86452116	86452116	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr9:86452116G>C	ENST00000297814.2	-	18	4149	c.4006C>G	c.(4006-4008)Cga>Gga	p.R1336G	KIF27_ENST00000334204.2_Missense_Mutation_p.R1239G|KIF27_ENST00000413982.1_Missense_Mutation_p.R1270G|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000412069.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|RP11-575L7.2_ENST00000417672.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1336					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GATGACAGTCGACTGTGAGAT	0.408000													59	82					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28405333	28405333	+	Silent	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:28405333C>A	ENST00000394835.3	+	15	3030	c.2838C>A	c.(2836-2838)ctC>ctA	p.L946L	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.L822L	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	946							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGTCTGAACTCAGGGGCAATG	0.428000													45	99					1.03325e-14	1.12629e-14	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			21	41					0	0	1	0	0
C1orf74	148304	broad.mit.edu	37	1	209956687	209956687	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:209956687T>C	ENST00000294811.1	-	2	549	c.293A>G	c.(292-294)gAg>gGg	p.E98G		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	98										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		ACATACATGCTCAGGACTGAC	0.532000													6	51					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113219481	113219481	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr13:113219481G>A	ENST00000261965.3	-	3	382	c.196C>T	c.(196-198)Cga>Tga	p.R66*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.R66*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	66					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCTTCTCTTCGTTGTCGAATA	0.368000													26	221					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47855056	47855056	+	Splice_Site	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr7:47855056C>G	ENST00000289672.2	-	47	7016		c.e47-1		C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1						cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCTGGCATTTCTTAATGCAAG	0.458000													33	88					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90440618	90440618	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:90440618G>A	ENST00000369393.3	-	35	5082	c.4967C>T	c.(4966-4968)aCa>aTa	p.T1656I	MDN1_ENST00000428876.1_Missense_Mutation_p.T1656I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1656					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAAAGGGCTGTACCAAACCC	0.413000													14	55					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	47					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144825369	144825369	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:144825369C>G	ENST00000440491.2	+	11	1321	c.1321C>G	c.(1321-1323)Ctg>Gtg	p.L441V	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						CAGGGAGCTGCTGGATGAGAA	0.488000													6	174					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122962440	122962440	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr12:122962440C>T	ENST00000543897.1	-	11	2934	c.579G>A	c.(577-579)caG>caA	p.Q193Q	ZCCHC8_ENST00000536306.1_Silent_p.Q193Q|ZCCHC8_ENST00000336229.4_Silent_p.Q431Q|ZCCHC8_ENST00000538116.1_Silent_p.Q42Q			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	431						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTCATTCTTCTGCTTCTTTG	0.453000													13	53					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47868900	47868900	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:47868900G>C	ENST00000446256.2	+	6	643	c.71G>C	c.(70-72)aGa>aCa	p.R24T	DHX30_ENST00000445061.1_Missense_Mutation_p.R63T|DHX30_ENST00000457607.1_Missense_Mutation_p.R91T|DHX30_ENST00000348968.4_Missense_Mutation_p.R35T	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	63						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGATTGGAAGAGCCCTCGGC	0.413000													33	70					0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118723635	118723635	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:118723635G>T	ENST00000371527.1	-	2	2405	c.1753C>A	c.(1753-1755)Cag>Aag	p.Q585K	NKRF_ENST00000542113.1_Missense_Mutation_p.Q600K|NKRF_ENST00000304449.5_Missense_Mutation_p.Q585K|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	585	G-patch.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CGCTTATGCTGCTCTTTCACT	0.473000													87	151					4.92795e-40	5.50208e-40	1	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55021734	55021734	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr18:55021734G>A	ENST00000324000.3	+	2	2315	c.281G>A	c.(280-282)cGg>cAg	p.R94Q		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	94					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AAATTTAATCGGACAGCGTTT	0.388000													5	103					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77292652	77292652	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr4:77292652G>C	ENST00000388914.3	-	9	1219	c.1067C>G	c.(1066-1068)tCa>tGa	p.S356*		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	356										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTTAGCTCTGAGTTGGCAAG	0.373000													12	44					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433385	55433385	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr11:55433385T>A	ENST00000314259.3	+	1	772	c.743T>A	c.(742-744)tTc>tAc	p.F248Y		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTTGTATTGTTCTTTGTCCCC	0.498000													26	117					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25311496	25311496	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr12:25311496C>T	ENST00000354189.5	-	4	317	c.282G>A	c.(280-282)gaG>gaA	p.E94E	CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395987.3_Splice_Site_p.E36E|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000395990.2_5'UTR|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000320267.9_Splice_Site_p.E30E	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	30										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AACGGGCTTCCTCTAAAGAAC	0.318000													15	40					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													3	43					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41414414	41414414	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr21:41414414C>A	ENST00000400454.1	-	32	6047	c.5570G>T	c.(5569-5571)aGt>aTt	p.S1857I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1857					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGGTCAGACTGTCCGTGTA	0.532000													99	39					1.31735e-33	1.44972e-33	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													5	76					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52441328	52441328	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:52441328C>T	ENST00000460680.1	-	7	913	c.442G>A	c.(442-444)Gag>Aag	p.E148K	BAP1_ENST00000296288.5_Missense_Mutation_p.E148K	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	148					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGGCGTGGCTCGGGCCTGGGG	0.577000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							16	44					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285684	48285684	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr11:48285684C>G	ENST00000320048.1	+	1	272	c.272C>G	c.(271-273)tCt>tGt	p.S91C		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AAAGTCATTTCTCTCAAGGGC	0.468000													16	42					0	0	1	0	0
SNHG19	100507303	broad.mit.edu	37	16	2205060	2205060	+	RNA	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr16:2205060C>T	ENST00000563192.1	-	0	216				SNORD60_ENST00000383903.1_RNA																							ACTGCACGTGCAGTTTTCATA	0.532000													12	41					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001356	52001356	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:52001356C>T	ENST00000291707.3	-	5	1376	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.E323K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	441	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AATTCCCCTTCATCCTTCACA	0.617000													11	39					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453164	138453164	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr4:138453164C>G	ENST00000344876.4	-	1	465	c.79G>C	c.(79-81)Ggc>Cgc	p.G27R	PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.G27R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	27					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAATTCTTGCCCAGTACATCG	0.378000													14	82					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647508	20647508	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:20647508C>A	ENST00000272233.4	+	1	674	c.282C>A	c.(280-282)aaC>aaA	p.N94K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	94					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGCTGGAGAACATCCCCGAGA	0.622000													47	131					2.43468e-25	2.66655e-25	1	1	0
UNC13B	10497	broad.mit.edu	37	9	35386168	35386168	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr9:35386168G>C	ENST00000378495.3	+	23	2947	c.2725G>C	c.(2725-2727)Gaa>Caa	p.E909Q	UNC13B_ENST00000378496.4_Missense_Mutation_p.E909Q|UNC13B_ENST00000396787.1_Missense_Mutation_p.E921Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	909					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGGTACAAGAACTGCAAAG	0.463000													26	84					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5500722	5500722	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr4:5500722G>T	ENST00000282908.5	+	12	1579	c.1157G>T	c.(1156-1158)cGa>cTa	p.R386L	STK32B_ENST00000510398.1_Missense_Mutation_p.R339L|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.R309L	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	386							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACCGACAGCCGAGGGGGAGGC	0.627000													9	29					3.86212e-05	4.0013e-05	1	1	0
CYTH4	27128	broad.mit.edu	37	22	37697050	37697050	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr22:37697050C>A	ENST00000248901.6	+	7	724	c.537C>A	c.(535-537)ttC>ttA	p.F179L	CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	179	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CAGGCGTCTTCCAGTCCACAG	0.627000													3	20					1	1	1	1	0
ZFP36L2	678	broad.mit.edu	37	2	43451879	43451879	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:43451879G>A	ENST00000282388.3	-	2	1357	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	355					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCACGAGGCCGACGAGCAGGC	0.761000													6	1					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68119375	68119375	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr15:68119375C>T	ENST00000380035.2	+	2	1267	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	SKOR1_ENST00000389002.1_Silent_p.F359F|SKOR1_ENST00000554240.1_Silent_p.F364F|SKOR1_ENST00000554054.1_Silent_p.F375F|SKOR1_ENST00000341418.5_Silent_p.F510F			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	403					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CTACGGCCTTCGGCCTATGCC	0.677000													4	38					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563772	176563772	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:176563772C>T	ENST00000367662.3	+	3	2196	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	PAPPA2_ENST00000367661.3_Silent_p.T344T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	344					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						CCCTCTGCACCGACCGCGTGA	0.592000													6	57					0	0	1	0	0
RAB32	10981	broad.mit.edu	37	6	146870723	146870723	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:146870723A>T	ENST00000367495.3	+	2	553	c.374A>T	c.(373-375)gAt>gTt	p.D125V		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	125					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		AGTGATCTGGATAGTAAAGTT	0.438000													35	50					0	0	1	0	0
LMAN1	3998	broad.mit.edu	37	18	57026360	57026360	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr18:57026360G>A	ENST00000251047.5	-	1	834	c.117C>T	c.(115-117)gtC>gtT	p.V39V		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	39			V -> A (in dbSNP:rs33926449).		blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GTGGCAACGCGACCGCGGGGT	0.672000													36	65					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52441226	52441226	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:52441226C>T	ENST00000460680.1	-	7	1015	c.544G>A	c.(544-546)Gag>Aag	p.E182K	BAP1_ENST00000296288.5_Missense_Mutation_p.E182K	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	182					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCATCCAGCTCAAAGAGCCGG	0.592000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							15	33					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839356	62839356	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr20:62839356G>A	ENST00000536311.1	+	7	1171	c.807G>A	c.(805-807)gaG>gaA	p.E269E	MYT1_ENST00000328439.1_Silent_p.E269E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	269	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaagaggaggaggagg	0.577000													3	13					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444304	49444304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr12:49444304G>A	ENST00000301067.7	-	11	3066	c.3067C>T	c.(3067-3069)Cag>Tag	p.Q1023*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCGAACACTGAGGAGGAAGG	0.627000													14	27					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568275	5568275	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr7:5568275G>T	ENST00000331789.5	-	4	630	c.439C>A	c.(439-441)Cgt>Agt	p.R147S		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	147					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CCAGTGGTACGGCCAGAGGCG	0.577000													37	114					4.11147e-13	4.41887e-13	1	1	0
HELZ2	85441	broad.mit.edu	37	20	62197082	62197082	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr20:62197082C>G	ENST00000467148.1	-	8	3162	c.3093G>C	c.(3091-3093)aaG>aaC	p.K1031N	HELZ2_ENST00000427522.2_Missense_Mutation_p.K462N	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCACGTCTTCCTTCACTGCGT	0.682000													4	63					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088598	57088598	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:57088598G>C	ENST00000330619.8	+	6	1487	c.801G>C	c.(799-801)caG>caC	p.Q267H	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.Q267H	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CCTTTAGCCAGAGTGCCCACC	0.408000													14	62					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47868907	47868907	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:47868907C>T	ENST00000446256.2	+	6	650	c.78C>T	c.(76-78)ctC>ctT	p.L26L	DHX30_ENST00000445061.1_Silent_p.L65L|DHX30_ENST00000457607.1_Silent_p.L93L|DHX30_ENST00000348968.4_Silent_p.L37L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	65						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAAGAGCCCTCGGCATCTCAC	0.418000													35	67					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75500446	75500446	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr15:75500446C>T	ENST00000360639.2	+	2	2377	c.2057C>T	c.(2056-2058)tCt>tTt	p.S686F	C15orf39_ENST00000567617.1_Missense_Mutation_p.S686F|C15orf39_ENST00000394987.4_Missense_Mutation_p.S686F			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	686										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCCCCACATCTGGGCCCATT	0.647000													25	35					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662867	99662867	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:99662867G>A	ENST00000373034.4	-	1	2404	c.729C>T	c.(727-729)taC>taT	p.Y243Y	PCDH19_ENST00000420881.2_Silent_p.Y243Y|PCDH19_ENST00000255531.7_Silent_p.Y243Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	243	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGCTCACCGCGTAGGTGGACT	0.627000													23	152					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	476145	476145	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr5:476145G>C	ENST00000264938.3	-	14	2139	c.2130C>G	c.(2128-2130)atC>atG	p.I710M	SLC9A3_ENST00000514375.1_Missense_Mutation_p.I701M|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	710						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTTTCTCCTTGATGGTGAAAT	0.637000													18	28					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605053	48605053	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:48605053G>A	ENST00000328333.8	-	108	8107	c.8000C>T	c.(7999-8001)cCg>cTg	p.P2667L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2635L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2667	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P2667L(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGACTGGCCCGGCACACCAGG	0.632000													22	126					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079765	44079765	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:44079765C>G	ENST00000272286.2	+	6	812	c.722C>G	c.(721-723)tCt>tGt	p.S241C		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	241	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAACCCACCTCTGGGCTCGAC	0.612000													54	98					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17649526	17649526	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:17649526C>A	ENST00000262077.2	-	12	1400	c.1401G>T	c.(1399-1401)atG>atT	p.M467I	NUP153_ENST00000537253.1_Missense_Mutation_p.M498I	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	467					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGGAACTTCCATTTCCTAAA	0.363000													34	50					2.68265e-12	2.85653e-12	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38648165	38648165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:38648165G>A	ENST00000413689.1	-	9	1328	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	SCN5A_ENST00000451551.2_Nonsense_Mutation_p.Q379*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.Q379*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.Q379*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.Q379*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.Q379*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.Q379*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.Q379*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.Q379*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.Q379*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	379					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CACACCTGCTGATAGAGGCGC	0.612000													12	11					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205129378	205129378	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:205129378C>T	ENST00000367162.3	-	8	1999	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.E657K	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	657	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CGGCCCAGTTCCTGTCCCAGT	0.483000													90	49					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129371193	129371193	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:129371193G>A	ENST00000421865.2	+	2	292	c.243G>A	c.(241-243)ccG>ccA	p.P81P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	81	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAGGAACCCGCAGTGTCGAA	0.453000													33	45					0	0	1	0	0
IMP3	55272	broad.mit.edu	37	15	75932210	75932210	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr15:75932210G>A	ENST00000314852.2	-	2	1243	c.300C>T	c.(298-300)ttC>ttT	p.F100F	IMP3_ENST00000403490.1_Silent_p.F100F			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	100					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						AGGCCGTGACGAAGTCGCAGA	0.682000													9	16					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74083447	74083447	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr18:74083447G>A	ENST00000443185.2	-	6	3656	c.3339C>T	c.(3337-3339)ctC>ctT	p.L1113L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGTGGGCCCTGAGGTGGCCGG	0.657000													12	24					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40323947	40323947	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:40323947C>G	ENST00000264661.3	-	7	1386	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	KCNH4_ENST00000607371.1_Missense_Mutation_p.E352Q	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	352					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAGTACCGCTCCAGCTTCTgc	0.632000													11	18					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79323808	79323808	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr15:79323808G>A	ENST00000419573.3	-	8	1470	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.T399M	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	399	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTCATGAGGCGTGTGGGCCAG	0.627000													11	12					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143695	61143695	+	RNA	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr20:61143695G>A	ENST00000475015.1	-	0	643				C20orf166-AS1_ENST00000412495.1_RNA																							TCCGCAGACCGGATGGTGTGG	0.672000													4	128					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100026039	100026039	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr8:100026039C>T	ENST00000395996.1	+	2	134	c.23C>T	c.(22-24)cCa>cTa	p.P8L	VPS13B_ENST00000358544.2_Missense_Mutation_p.P8L|VPS13B_ENST00000355155.1_Missense_Mutation_p.P8L|VPS13B_ENST00000441350.2_Missense_Mutation_p.P8L|VPS13B_ENST00000357162.2_Missense_Mutation_p.P8L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	8					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATGTAACTCCAATTTTAATG	0.453000													16	179					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94138033	94138033	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr4:94138033C>G	ENST00000282020.4	+	6	1192	c.934C>G	c.(934-936)Cca>Gca	p.P312A	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.P217A	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	312					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGTGTGATCCAAAGGATCC	0.418000													15	85					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54656175	54656175	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:54656175G>A	ENST00000406403.1	+	14	3319	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L	CNOT3_ENST00000358389.3_Silent_p.L391L|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Silent_p.L572L			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	572	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACATCATCCTGAGCAGTACAT	0.667000													18	136					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123185178	123185178	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:123185178C>G	ENST00000371160.1	+	13	1420	c.1130C>G	c.(1129-1131)tCt>tGt	p.S377C	STAG2_ENST00000218089.9_Missense_Mutation_p.S377C|STAG2_ENST00000371157.3_Missense_Mutation_p.S377C|STAG2_ENST00000371145.3_Missense_Mutation_p.S377C|STAG2_ENST00000371144.3_Missense_Mutation_p.S377C|STAG2_ENST00000354548.5_Missense_Mutation_p.S308C|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	377	SCD.				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGAATTGTGTCTATGACCCTT	0.279000													46	99					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235342	33235342	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:33235342C>G	ENST00000401073.2	+	5	725	c.655C>G	c.(655-657)Cgg>Ggg	p.R219G	KIAA1522_ENST00000373480.1_Missense_Mutation_p.R160G|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R171G|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	160										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCGGGAGCGGCGGAGCACTGT	0.632000													10	27					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42793519	42793519	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:42793519A>G	ENST00000572681.2	+	9	4116	c.4048A>G	c.(4048-4050)Atg>Gtg	p.M1350V	CIC_ENST00000160740.3_Missense_Mutation_p.M441V|CIC_ENST00000575354.2_Missense_Mutation_p.M441V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGAGGAGCGCATGGTCATCTG	0.632000			"""Mis, F, S"""		oligodendroglioma								9	20					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133272	51133272	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:51133272C>T	ENST00000338916.4	-	3	1464	c.831G>A	c.(829-831)ggG>ggA	p.G277G	SYT3_ENST00000600079.1_Silent_p.G277G|SYT3_ENST00000544769.1_Silent_p.G277G|SYT3_ENST00000593901.1_Silent_p.G277G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	277						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGGCCAGTCCCCTGGTACA	0.667000													20	109					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111913	145111913	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr8:145111913G>A	ENST00000426825.1	-	12	1725	c.1644C>T	c.(1642-1644)gaC>gaT	p.D548D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	548							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TCAGCCTCTGGTCCAGCTGCA	0.677000													4	16					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224475512	224475512	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:224475512C>G	ENST00000281701.6	-	14	2018	c.1759G>C	c.(1759-1761)Gaa>Caa	p.E587Q	NVL_ENST00000482491.1_Missense_Mutation_p.E311Q|NVL_ENST00000340871.4_Missense_Mutation_p.E398Q|NVL_ENST00000391875.2_Missense_Mutation_p.E481Q|NVL_ENST00000469075.1_Missense_Mutation_p.E496Q|NVL_ENST00000361463.3_Missense_Mutation_p.E481Q	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	587						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTAATGTCTTCCAGGGCACCA	0.443000													8	65					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491112	73491112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:73491112C>T	ENST00000314256.7	+	20	3119	c.2725C>T	c.(2725-2727)Cag>Tag	p.Q909*	KIAA0195_ENST00000375248.5_Nonsense_Mutation_p.Q919*|KIAA0195_ENST00000579208.1_Nonsense_Mutation_p.Q560*	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	909					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGACCTGAATCAGGGTAAGGG	0.647000													36	78					0	0	1	0	0
C8orf82	414919	broad.mit.edu	37	8	145753444	145753444	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr8:145753444C>T	ENST00000524821.1	-	2	384	c.169G>A	c.(169-171)Gat>Aat	p.D57N	C8orf82_ENST00000313465.5_Missense_Mutation_p.D57N			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	57										endometrium(1)|urinary_tract(1)	2						ATTTTGGAATCATCCAGGAAA	0.582000													18	52					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635548	122635548	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr7:122635548C>T	ENST00000249284.2	-	1	206	c.141G>A	c.(139-141)atG>atA	p.M47I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	47					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGATGAGAATCATGTCCACAG	0.443000													4	42					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8947187	8947187	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr11:8947187C>T	ENST00000326053.5	-	5	1133	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	C11orf16_ENST00000525780.1_Missense_Mutation_p.E343K	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	343										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CCGTCTTGTTCACAGGAGGAG	0.537000													34	38					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938740	119938740	+	Silent	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr8:119938740G>T	ENST00000297350.4	-	4	1188	c.810C>A	c.(808-810)atC>atA	p.I270I		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	270	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TACCTTGGATGATCTTCTTGA	0.348000													10	120					3.86212e-05	4.0013e-05	1	1	0
CCDC158	339965	broad.mit.edu	37	4	77292662	77292662	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr4:77292662G>A	ENST00000388914.3	-	9	1209	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	353										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GAGTTGGCAAGGACTAACTGC	0.383000													7	43					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99711845	99711845	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr7:99711845C>G	ENST00000472509.1	-	1	336	c.159G>C	c.(157-159)aaG>aaC	p.K53N	TAF6_ENST00000453269.2_5'UTR|TAF6_ENST00000344095.4_5'UTR|TAF6_ENST00000452041.1_5'UTR|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000437822.2_Missense_Mutation_p.K33N			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	0					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGAGTCCCTCTTCTCCTCCC	0.582000													6	89					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006708	8006708	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr10:8006708G>C	ENST00000344293.5	+	3	1441	c.1235G>C	c.(1234-1236)gGa>gCa	p.G412A		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	412					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTTTCTTCTGGATCGGAATCT	0.473000													49	98					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283637	152283637	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:152283637G>C	ENST00000368799.1	-	3	3760	c.3725C>G	c.(3724-3726)tCt>tGt	p.S1242C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1242	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCAGCCCAAGAGGCAGCTTC	0.562000									Ichthyosis				29	673					0	0	1	0	0
APOL6	80830	broad.mit.edu	37	22	36055538	36055538	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr22:36055538G>A	ENST00000409652.4	+	3	1203	c.927G>A	c.(925-927)ggG>ggA	p.G309G		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6						lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						ATTTAACTGGGACCTGCGAAA	0.522000													7	36					0	0	1	0	0
CHPT1	56994	broad.mit.edu	37	12	102108380	102108380	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr12:102108380G>A	ENST00000549872.1	+	3	710	c.520G>A	c.(520-522)Gct>Act	p.A174T	CHPT1_ENST00000229266.3_Missense_Mutation_p.A174T|CHPT1_ENST00000550385.1_3'UTR			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	174					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GTTTTATTGCGCTCATTGGCA	0.348000													19	61					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135711840	135711840	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:135711840G>A	ENST00000264157.5	+	9	1845	c.1815G>A	c.(1813-1815)ctG>ctA	p.L605L	CCNT2_ENST00000295238.6_Silent_p.L605L|CCNT2_ENST00000537343.1_Silent_p.L430L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	605					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CTGTTGGCCTGAGCAGTGATG	0.527000													28	38					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691207	49691207	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:49691207C>T	ENST00000296452.4	+	5	4332	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1406					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCAGGCTCCGAGCGTAGTC	0.612000													17	190					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214185013	214185013	+	Silent	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:214185013G>T	ENST00000366958.4	+	4	2591	c.1983G>T	c.(1981-1983)ctG>ctT	p.L661L	PROX1_ENST00000498508.2_Silent_p.L661L|PROX1_ENST00000435016.1_Silent_p.L661L|PROX1_ENST00000261454.4_Silent_p.L661L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	661	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ACTGTGAGCTGTACAGGGCTC	0.398000													77	46					7.427e-35	8.21254e-35	1	1	0
UXT	8409	broad.mit.edu	37	X	47518321	47518321	+	Silent	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:47518321C>T	ENST00000335890.2	-	1	195	c.42G>A	c.(40-42)gcG>gcA	p.A14A	RP1-212G6.7_ENST00000591832.1_RNA|RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000333119.3_Silent_p.A2A	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	2					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TAGGGGGCGTCGCCATGATGG	0.622000													29	22					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73521444	73521444	+	Missense_Mutation	SNP	G	G	A	rs11541656		TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr7:73521444G>A	ENST00000418310.1	+	8	1178	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	LIMK1_ENST00000538333.3_Missense_Mutation_p.R295Q|LIMK1_ENST00000336180.2_Missense_Mutation_p.R329Q			P53667	LIMK1_HUMAN	LIM domain kinase 1	329	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GTAGTCTGCCGGCCACACCGC	0.677000													17	19					0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	101984957	101984957	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr11:101984957G>A	ENST00000282441.5	+	2	792	c.404G>A	c.(403-405)gGa>gAa	p.G135E	YAP1_ENST00000524575.1_5'UTR|YAP1_ENST00000526343.1_Missense_Mutation_p.G135E|YAP1_ENST00000345877.2_Missense_Mutation_p.G135E|YAP1_ENST00000537274.1_Missense_Mutation_p.G135E|YAP1_ENST00000531439.1_Missense_Mutation_p.G135E	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	135					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CTGCAGTTGGGAGCTGTTTCT	0.532000													30	35					0	0	1	0	0
SNF8	11267	broad.mit.edu	37	17	47010657	47010657	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:47010657G>A	ENST00000502492.1	-	6	856	c.474C>T	c.(472-474)ttC>ttT	p.F158F	SNF8_ENST00000514089.1_5'UTR|SNF8_ENST00000290330.3_Silent_p.F158F|AC091133.1_ENST00000435491.1_RNA			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	158					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						GGATGATGCCGAAGCCAGTGC	0.522000													13	85					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744749	54744749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:54744749C>A	ENST00000440558.2	-	5	961	c.913G>T	c.(913-915)Gag>Tag	p.E305*	LILRA6_ENST00000245621.5_Nonsense_Mutation_p.E305*|LILRA6_ENST00000396365.2_Nonsense_Mutation_p.E305*|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Nonsense_Mutation_p.E305*|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCGACCACTCGGAGGAGAGG	0.692000													9	91					3.03607e-14	3.29385e-14	1	1	0
VDAC2	7417	broad.mit.edu	37	10	76990693	76990693	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr10:76990693G>A	ENST00000535553.1	+	11	1070	c.714G>A	c.(712-714)aaG>aaA	p.K238K	VDAC2_ENST00000543351.1_Silent_p.K277K|VDAC2_ENST00000313132.4_Silent_p.K292K|VDAC2_ENST00000332211.6_Silent_p.K277K			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	277						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TAGATGGGAAGAGCATTAATG	0.463000											OREG0020276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	27					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134322526	134322526	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr9:134322526C>A	ENST00000357304.4	+	7	965	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	PRRC2B_ENST00000405995.1_Missense_Mutation_p.P304T|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P304T|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	304							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGCTCTTTTCCCCTTCCTCA	0.468000													4	43					0.150653	0.151975	1	1	0
STAG1	10274	broad.mit.edu	37	3	136342048	136342048	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr3:136342048G>A	ENST00000383202.2	-	3	328	c.72C>T	c.(70-72)agC>agT	p.S24S	STAG1_ENST00000236698.5_Silent_p.S24S|STAG1_ENST00000480733.1_Silent_p.S24S|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	24					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTTCAAGCTCGCTGCCAGCAT	0.378000													30	68					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126133464	126133464	+	Silent	SNP	C	C	T	rs151243935	byFrequency	TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr9:126133464C>T	ENST00000373631.3	+	8	2044	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	CRB2_ENST00000373629.2_Silent_p.S349S|CRB2_ENST00000359999.3_Silent_p.S681S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	681	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTCGGGAGTCCGCTGGCCTGT	0.617000													129	104					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50402062	50402062	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr16:50402062C>G	ENST00000394688.3	-	2	356	c.197G>C	c.(196-198)aGa>aCa	p.R66T	BRD7_ENST00000394689.2_Missense_Mutation_p.R66T|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	66	Lys-rich.			R -> G (in Ref. 1; AAF19526).	cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCCTTTCTTTCTCTTTTTCCG	0.498000													47	264					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50724615	50724615	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr22:50724615C>T	ENST00000449103.1	-	9	2004	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E622K|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	622					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGTTCTCCTCCAGGCTCATG	0.632000													40	81					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834526	178834526	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:178834526C>T	ENST00000234816.2	-	3	833	c.386G>A	c.(385-387)cGt>cAt	p.R129H	RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R129H|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	129						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTGAGTAACACGAGAGTTCAT	0.403000													4	108					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18183118	18183118	+	Silent	SNP	C	C	T	rs141737618		TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:18183118C>T	ENST00000600835.2	-	10	1123	c.825G>A	c.(823-825)gcG>gcA	p.A275A	IL12RB1_ENST00000322153.7_Silent_p.A275A|IL12RB1_ENST00000593993.2_Silent_p.A275A			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCGTGCCAGGCGCCAGCCCTT	0.587000													6	27					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19132084	19132084	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr22:19132084C>T	ENST00000252137.6	-	1	113	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	24					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TCTCCCGCCTCGCGCTTCCTC	0.677000													12	16					0	0	1	0	0
TOMM20L	387990	broad.mit.edu	37	14	58862762	58862762	+	Silent	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr14:58862762C>G	ENST00000360945.2	+	1	129	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	29					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						GTATTTACCTCAACCGGAAGC	0.756000													11	5					0	0	1	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519523	28519523	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr13:28519523G>A	ENST00000381026.3	+	1	181	c.127G>A	c.(127-129)Gta>Ata	p.V43I																	ovary(1)	1						TGGCAACAGCGTAAAAATTGT	0.403000													10	13					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1406366	1406366	+	Silent	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr5:1406366G>A	ENST00000270349.9	-	12	1663	c.1536C>T	c.(1534-1536)acC>acT	p.T512T	SLC6A3_ENST00000453492.2_Silent_p.T512T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	512					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCCGCTGCCCGGTCATCTGCT	0.647000													50	82					0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99560326	99560326	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr8:99560326G>A	ENST00000523601.1	-	11	1495	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	STK3_ENST00000419617.2_Missense_Mutation_p.R338W	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	338					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		CTTGTGGCCCGCATGGTGCCC	0.498000													7	24					0	0	1	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30925721	30925721	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr15:30925721G>C	ENST00000428041.2	+	3	374	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	77	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CACATCTTTAGAAGAACATAT	0.373000													30	19					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996933	19996933	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr18:19996933C>T	ENST00000391403.2	-	1	945	c.842G>A	c.(841-843)gGa>gAa	p.G281E		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	281						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTTCAAAGCTCCTTTTGGAGG	0.338000													4	128					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28405376	28405376	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:28405376C>G	ENST00000394835.3	+	15	3073	c.2881C>G	c.(2881-2883)Ctg>Gtg	p.L961V	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.L837V	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	961							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGTGGAATTTCTGATGAATGC	0.438000													47	81					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100868737	100868737	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr6:100868737C>T	ENST00000369208.3	-	10	1878	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	SIM1_ENST00000262901.4_Missense_Mutation_p.D366N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	366	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTTCTGTTGTCAGTCATGGTG	0.522000													8	26					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			16	8					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219538626	219538626	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr2:219538626G>A	ENST00000295709.3	+	4	529	c.250G>A	c.(250-252)Gag>Aag	p.E84K	STK36_ENST00000440309.1_Missense_Mutation_p.E84K|STK36_ENST00000392105.3_Missense_Mutation_p.E84K|STK36_ENST00000392106.2_Missense_Mutation_p.E84K	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	84	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGACTATGCTGAGGGAGAGCT	0.512000													22	6					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092926	151092926	+	Missense_Mutation	SNP	G	G	T	rs148549437	byFrequency	TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chrX:151092926G>T	ENST00000360243.2	+	3	1057	c.790G>T	c.(790-792)Ggc>Tgc	p.G264C	MAGEA4_ENST00000370337.4_Missense_Mutation_p.G264C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.G264C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.G264C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.G264C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.G264C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.G264C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	264	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGTACCCGGCAGTAATCC	0.562000													36	160					1.414e-09	1.49871e-09	1	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	61					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50402043	50402043	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr16:50402043C>A	ENST00000394688.3	-	2	375	c.216G>T	c.(214-216)caG>caT	p.Q72H	BRD7_ENST00000394689.2_Missense_Mutation_p.Q72H|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	72	Lys-rich.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CCCCTGGAATCTGCTTCTCTC	0.502000													58	283					4.46356e-37	4.95951e-37	1	1	0
RBBP8	5932	broad.mit.edu	37	18	20573153	20573153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr18:20573153G>T	ENST00000399722.2	+	11	1714	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	RBBP8_ENST00000327155.5_Nonsense_Mutation_p.E455*|RBBP8_ENST00000399725.2_Nonsense_Mutation_p.E455*|RBBP8_ENST00000360790.5_Nonsense_Mutation_p.E455*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	455					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GGAAGAAAGTGAACATGAAGT	0.408000								Homologous recombination					7	75					0.00198382	0.0020279	1	1	0
LYZL2	119180	broad.mit.edu	37	10	30900895	30900895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr10:30900895C>A	ENST00000375318.2	-	5	630	c.574G>T	c.(574-576)Gag>Tag	p.E192*		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	146					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TAGGAAACCTCACAGTCTTTT	0.522000													22	224					1.10513e-12	1.18224e-12	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157665290	157665290	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:157665290G>T	ENST00000368184.3	-	8	1531	c.1240C>A	c.(1240-1242)Ctg>Atg	p.L414M	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.L414M|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	414	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AATCGGTACAGGATCGGGGGA	0.592000													7	250					0.000157383	0.000162324	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7811329	7811329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:7811329delA	ENST00000303635.7	+	20	4967	c.4760delA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1587	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TACTATGAACAAAAAAAATTC	0.473			T	WWTR1	epitheliod hemangioendothelioma								8	421	---	---	---	---					
MFN2	9927	broad.mit.edu	37	1	12052736	12052736	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:12052736delT	ENST00000235329.5	+	4	622	c.300delT	c.(298-300)gctfs	p.A100fs	MFN2_ENST00000444836.1_Frame_Shift_Del_p.A100fs	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	100					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGAAAGTGGCTTTTTTTGGCC	0.537													7	232	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													2	4	---	---	---	---					
GAS5	60674	broad.mit.edu	37	1	173835447	173835450	+	RNA	DEL	CAGA	CAGA	-			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr1:173835447_173835450delCAGA	ENST00000385578.2	-	0	59_62					NR_003943.1																						CCAGATACATCAGACAGATAGTAC	0.314													17	138	---	---	---	---					
SPATA4	132851	broad.mit.edu	37	4	177109335	177109335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr4:177109335delG	ENST00000515234.1	-	4	1816	c.221delC	c.(220-222)cctfs	p.P74fs	SPATA4_ENST00000280191.2_Frame_Shift_Del_p.P247fs			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	247					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GGCTTGGGCAGGAAGGTGATT	0.348													27	44	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15490016	15490017	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr9:15490016_15490017insAG	ENST00000380733.4	-	4	598_599	c.255_256insCT	c.(253-258)gataacfs	p.N86fs	PSIP1_ENST00000380738.4_Frame_Shift_Ins_p.N86fs|PSIP1_ENST00000380715.1_Frame_Shift_Ins_p.N86fs|PSIP1_ENST00000380716.4_Frame_Shift_Ins_p.N86fs|PSIP1_ENST00000397519.2_Frame_Shift_Ins_p.N86fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	86					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTTGGATTGTTATCTATCTCCC	0.292													32	34	---	---	---	---					
FAT3	120114	broad.mit.edu	37	11	92531638	92531639	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr11:92531638_92531639insA	ENST00000298047.6	+	9	5476_5477	c.5459_5460insA	c.(5458-5463)gcaaaafs	p.AK1820fs	FAT3_ENST00000525166.1_Frame_Shift_Ins_p.AK1670fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.AK1820fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1820	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGTCAACAGCAAAAAAGTTTT	0.465										TCGA Ovarian(4;0.039)			10	30	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs36063533		TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	12	---	---	---	---					
FBXW9	84261	broad.mit.edu	37	19	12807003	12807003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr19:12807003delG	ENST00000380339.3	-	1	429	c.393delC	c.(391-393)cccfs	p.P131fs	FBXW9_ENST00000587955.1_Intron|FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000393261.3_Frame_Shift_Del_p.P131fs			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	131							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCACTGGGTAGGGCGCGCGTA	0.746													2	4	---	---	---	---					
RUNX1	861	broad.mit.edu	37	21	36231857	36231858	+	In_Frame_Ins	INS	-	-	TCA			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr21:36231857_36231858insTCA	ENST00000344691.4	-	3	2022_2023	c.445_446insTGA	c.(445-447)acc>aTGAcc	p.148_149insM	RUNX1_ENST00000399240.1_In_Frame_Ins_p.148_149insM|RUNX1_ENST00000437180.1_In_Frame_Ins_p.175_176insM|RUNX1_ENST00000300305.3_In_Frame_Ins_p.175_176insM|RUNX1_ENST00000358356.5_In_Frame_Ins_p.148_149insM|RUNX1_ENST00000325074.5_In_Frame_Ins_p.163_164insM|RUNX1_ENST00000486278.2_In_Frame_Ins_p.151_152insM	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	148	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GACAGTGATGGTCAGAGTGAAG	0.475			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								88	50	---	---	---	---					
BMS1P20	96610	broad.mit.edu	37	22	22657623	22657624	+	RNA	DEL	AG	AG	-			TCGA-UY-A78M-01A-21D-A34U-08	TCGA-UY-A78M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474ec735-5f6f-46dd-b589-5d09178f035e	12263b1d-ed1b-4fc0-99a7-8abf20042de2	g.chr22:22657623_22657624delAG	ENST00000426066.1	+	0	35_36					NR_027293.1																						ACTTGGAAACAGGGGACGTGCA	0.554													7	49	---	---	---	---