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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
AP3D1	8943	broad.mit.edu	37	19	2151253	2151253	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr19:2151253G>C	uc002lva.3	-	0	304	c.81C>G	c.(79-81)aaC>aaG	p.N27K	AP3D1_uc002luy.3_Missense_Mutation_p.N27K|AP3D1_uc002luz.3_Missense_Mutation_p.N27K	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	27					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTTGTGGTTACGGATGC	0.682000														17			13		0	0	0.024245	0	0
WNT3	7473	broad.mit.edu	37	17	44845986	44845986	+	Silent	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr17:44845986C>T	uc002ikv.2	-	3	887	c.768G>A	c.(766-768)gtG>gtA	p.V256V		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	256					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGAGGGTCTCCACCCAGCCTC	0.592000														84			71		0	0	0.014410	0	0
GPR18	2841	broad.mit.edu	37	13	99908051	99908051	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr13:99908051G>C	uc001voe.4	-	2	735	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Missense_Mutation_p.L26V|GPR18_uc021rlz.1_Missense_Mutation_p.L26V	NM_005292	NP_005283	Q14330	GPR18_HUMAN	Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA.	26						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TAGAAGACAAGGGCTGCAATT	0.388000														97			27		0	0	0.024334	0	0
IL10RA	3587	broad.mit.edu	37	11	117860196	117860196	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr11:117860196C>A	uc001prv.3	+	2	305	c.228C>A	c.(226-228)agC>agA	p.S76R	IL10RA_uc010rxl.2_Missense_Mutation_p.S56R|IL10RA_uc010rxm.2_Missense_Mutation_p.S56R|IL10RA_uc010rxn.2_Intron|IL10RA_uc001prw.3_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	76						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCAACTGTAGCCAGACCCTGT	0.557000														73			42		1.23713e-20	1.49677e-20	0.014410	1	0
DDX60	55601	broad.mit.edu	37	4	169172121	169172121	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr4:169172121C>T	uc003irp.3	-	27	4134	c.3842G>A	c.(3841-3843)aGa>aAa	p.R1281K		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1281	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATATCCTTTTCTAAAGAGGAT	0.338000														40			14		0	0	0.024245	0	0
C8orf80	389643	broad.mit.edu	37	8	27888815	27888815	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr8:27888815C>G	uc003xgm.4	-	14	1996	c.1853G>C	c.(1852-1854)gGg>gCg	p.G618A		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	618						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		ACTTCTTATCCCAATTTCTGT	0.468000														122			40		0	0	0.011902	0	0
PDZD2	23037	broad.mit.edu	37	5	32074625	32074625	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr5:32074625G>T	uc003jhl.3	+	17	3801	c.3413G>T	c.(3412-3414)aGt>aTt	p.S1138I	PDZD2_uc003jhm.3_Missense_Mutation_p.S1138I|PDZD2_uc011cnx.1_Missense_Mutation_p.S964I	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1138					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCAAGCCCAGTGGCTCACAG	0.587000														30			17		0.006122	0.00659293	0.006122	1	0
SEPP1	6414	broad.mit.edu	37	5	42807146	42807146	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr5:42807146T>A	uc011cps.2	-	3	456	c.358A>T	c.(358-360)Aat>Tat	p.N120Y	SEPP1_uc011cpt.2_Missense_Mutation_p.N90Y|SEPP1_uc011cpu.2_Missense_Mutation_p.N90Y|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	90					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CCTTGATGATTAACAACAATA	0.284000														44			12		0	0	0.013537	0	0
ZNF76	7629	broad.mit.edu	37	6	35260658	35260658	+	Splice_Site	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:35260658C>T	uc003oki.1	+	11	1371	c.1166_splice	c.e11-1	p.A389_splice	ZNF76_uc003okj.1_Splice_Site_p.A389_splice	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	389					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCTCTCCCAGCCGCCTCTGCA	0.622000														85			35		0	0	0.007835	0	0
FCHO2	115548	broad.mit.edu	37	5	72383545	72383545	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr5:72383545A>G	uc003kcl.3	+	24	2491	c.2375A>G	c.(2374-2376)tAt>tGt	p.Y792C	FCHO2_uc011csl.2_Missense_Mutation_p.Y759C|FCHO2_uc010izb.3_Missense_Mutation_p.Y220C|FCHO2_uc011csn.2_Missense_Mutation_p.Y220C	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	792										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GGCACTGGCTATAGGCTTTCC	0.398000														127			45		0	0	0.014410	0	0
IFIH1	64135	broad.mit.edu	37	2	163167397	163167397	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:163167397A>G	uc002uce.3	-	1	722	c.500T>C	c.(499-501)cTa>cCa	p.L167P	IFIH1_uc002ucf.3_Missense_Mutation_p.L167P	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	167	CARD 2.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTTTTTAGTAGCTCTCTTAC	0.358000														34			12		0	0	0.020292	0	0
LPIN1	23175	broad.mit.edu	37	2	11913751	11913751	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:11913751T>C	uc010yjm.2	+	5	802	c.749T>C	c.(748-750)cTt>cCt	p.L250P	LPIN1_uc010yjn.2_Missense_Mutation_p.L201P|LPIN1_uc002rbt.3_Missense_Mutation_p.L201P|LPIN1_uc002rbs.3_Missense_Mutation_p.L201P	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	201					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCCAGAACTCTTCCTAATGAT	0.358000														67			29		0	0	0.010818	0	0
PSMC4	5704	broad.mit.edu	37	19	40478461	40478461	+	Splice_Site	SNP	A	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr19:40478461A>G	uc002omq.3	+	3	359	c.322_splice	c.e3+1	p.G108_splice	PSMC4_uc002omr.3_Splice_Site_p.G77_splice	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	108					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCTCTACCACAGGTGTGCTAA	0.512000														31			10		0	0	0.008291	0	0
NAALADL1	10004	broad.mit.edu	37	11	64822081	64822081	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr11:64822081C>T	uc001ocn.3	-	4	749	c.733G>A	c.(733-735)Gag>Aag	p.E245K	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	245					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GAGCCTCGCTCCACTCCTGAG	0.597000											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)		24			8		0	0	0.003080	0	0
NRIP1	8204	broad.mit.edu	37	21	16337670	16337670	+	Silent	SNP	A	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr21:16337670A>G	uc021whl.1	-	0	2844	c.2844T>C	c.(2842-2844)gaT>gaC	p.D948D	NRIP1_uc002yjx.2_Silent_p.D948D	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	948					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GCGGGGACAAATCTCGCACAC	0.428000														95			37		0	0	0.025465	0	0
DPPA2	151871	broad.mit.edu	37	3	109023471	109023471	+	Silent	SNP	T	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr3:109023471T>C	uc003dxo.3	-	6	952	c.705A>G	c.(703-705)acA>acG	p.T235T		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	235						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCAACCCTTTGTGTCTGCCG	0.502000														98			4		0	0	0.009096	0	0
DEDD	9191	broad.mit.edu	37	1	161092019	161092019	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:161092019A>C	uc009wty.3	-	4	1062	c.965T>G	c.(964-966)cTg>cGg	p.L322R	NIT1_uc001fxw.3_Intron|DEDD_uc001fxz.3_Missense_Mutation_p.L292R|DEDD_uc001fya.3_Missense_Mutation_p.L292R|DEDD_uc001fyb.3_Missense_Mutation_p.L292R|DEDD_uc010pkb.2_Missense_Mutation_p.L249R	NM_001039712	NP_127491	O75618	DEDD_HUMAN	Homo sapiens death effector domain containing (DEDD), transcript variant 4, mRNA.	292					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATTTACCAGCAGCTTGATGGC	0.498000														56			29		0	0	0.006320	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215581	208215581	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:208215581C>T	uc001hgz.3	-	21	4906	c.4148G>A	c.(4147-4149)cGg>cAg	p.R1383Q		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1383					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACGTTGCCCCGGTCGCGCAT	0.582000														50			27		0	0	0.006320	0	0
PZP	5858	broad.mit.edu	37	12	9356427	9356427	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr12:9356427T>A	uc001qvl.3	-	1	233	c.204A>T	c.(202-204)gaA>gaT	p.E68D	PZP_uc009zgl.3_5'UTR	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGCTCCTGTTTTCCCTGCCAG	0.557000														92			44		0	0	0.014410	0	0
COL9A3	1299	broad.mit.edu	37	20	61468580	61468580	+	Silent	SNP	C	T	T	rs144216578		TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr20:61468580C>T	uc002ydm.3	+	29	1752	c.1749C>T	c.(1747-1749)cgC>cgT	p.R583R	COL9A3_uc002ydn.3_Silent_p.R77R	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	583	Triple-helical region 2 (COL2).				axon guidance	collagen type IX		p.R583C(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CTGGATACCGCGGTCCCACTG	0.667000														52			22		0	0	0.018920	0	0
KIF20B	9585	broad.mit.edu	37	10	91498338	91498338	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr10:91498338A>C	uc001kgs.1	+	19	3812	c.3740A>C	c.(3739-3741)gAa>gCa	p.E1247A	KIF20B_uc001kgr.1_Missense_Mutation_p.E1207A|KIF20B_uc001kgt.1_Missense_Mutation_p.E458A|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1247	Poly-Glu.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CAATTAAAAGAAGAAGAAGAA	0.279000														28			17		0	0	0.006122	0	0
PALLD	23022	broad.mit.edu	37	4	169433375	169433375	+	Silent	SNP	G	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr4:169433375G>A	uc011cjx.2	+	1	931	c.720G>A	c.(718-720)agG>agA	p.R240R	PALLD_uc003iru.3_Silent_p.R240R	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	240					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTGGGGCCAGGCATTGCTACC	0.597000									Pancreatic Cancer, Familial Clustering of					82			4		0	0	0.014758	0	0
CFD	1675	broad.mit.edu	37	19	860929	860929	+	Missense_Mutation	SNP	T	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr19:860929T>G	uc002lqc.3	+	2	306	c.281T>G	c.(280-282)cTg>cGg	p.L94R		NM_001928	NP_001919	P00746	CFAD_HUMAN	Homo sapiens complement factor D (adipsin) (CFD), mRNA.	94	Peptidase S1.			Missing (in Ref. 7; AA sequence).	complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAAGCGCCTGTACGACGTG	0.721000														15			9		0	0	0.004482	0	0
MYOM3	127294	broad.mit.edu	37	1	24421403	24421403	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:24421403G>T	uc001bin.4	-	8	1031	c.868C>A	c.(868-870)Ctg>Atg	p.L290M	MYOM3_uc001bim.4_5'UTR|MYOM3_uc001bio.3_Missense_Mutation_p.L290M|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	290	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAGCATGACAGGGAGAAGGGT	0.562000														28			16		1.5739e-10	1.83621e-10	0.028581	1	0
ZNF8	7554	broad.mit.edu	37	19	58805588	58805588	+	Silent	SNP	G	A	A	rs35832841	byFrequency	TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr19:58805588G>A	uc002qry.1	+	3	544	c.414G>A	c.(412-414)ggG>ggA	p.G138G	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CCACGTTAGGGAAAGACAGGG	0.527000														24			9		0	0	0.004482	0	0
MAP7D3	79649	broad.mit.edu	37	X	135314169	135314169	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chrX:135314169T>C	uc004ezt.3	-	7	1168	c.947A>G	c.(946-948)aAc>aGc	p.N316S	MAP7D3_uc004ezs.3_Missense_Mutation_p.N281S|MAP7D3_uc011mwc.2_Missense_Mutation_p.N298S|MAP7D3_uc010nsa.2_Missense_Mutation_p.N274S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	316						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CATGCTTGTGTTGCAGAATAC	0.567000														143			18		0	0	0.012319	0	0
EFTUD2	9343	broad.mit.edu	37	17	42945230	42945230	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr17:42945230G>A	uc002ihn.2	-	12	1355	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	EFTUD2_uc010wje.1_Missense_Mutation_p.S330F|EFTUD2_uc010wjf.1_Missense_Mutation_p.S355F	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	365						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ACTTCTCTGGGAGCTGCTAGT	0.483000														10			13		0	0	0.028581	0	0
NUBP2	10101	broad.mit.edu	37	16	1836594	1836594	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr16:1836594G>C	uc002cmw.4	+	1	162	c.73G>C	c.(73-75)Ggc>Cgc	p.G25R	NUBP2_uc002cmx.4_5'UTR	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	25						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AGGAAAGGGGGGCGTTGGGAA	0.657000														99			24		0	0	0.018920	0	0
OGDH	4967	broad.mit.edu	37	7	44714122	44714122	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr7:44714122G>A	uc003tln.3	+	6	1060	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	OGDH_uc003tlm.3_Missense_Mutation_p.G301S|OGDH_uc011kbx.2_Missense_Mutation_p.G297S|OGDH_uc011kby.2_Missense_Mutation_p.G151S|OGDH_uc003tlp.3_Missense_Mutation_p.G312S|OGDH_uc011kbz.2_Missense_Mutation_p.G96S|OGDH_uc003tlo.1_Missense_Mutation_p.G134S	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	301					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TAGTGAGAATGGCGTGGACTA	0.572000														61			47		0	0	0.014410	0	0
GDF5OS	554250	broad.mit.edu	37	20	34021660	34021660	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr20:34021660A>G	uc002xcj.3	+	1	146	c.71A>G	c.(70-72)aAg>aGg	p.K24R	GDF5_uc010gfc.1_Intron|GDF5_uc002xck.1_3'UTR					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						GAGTGCAGGAAGGGGCTCTTG	0.562000														51			24		0	0	0.021523	0	0
LUC7L2	51631	broad.mit.edu	37	7	139107032	139107032	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr7:139107032T>A	uc011kqt.2	+	10	1557	c.1323T>A	c.(1321-1323)aaT>aaA	p.N441K	LUC7L2_uc011kqs.2_Missense_Mutation_p.N372K|LUC7L2_uc003vuy.3_Missense_Mutation_p.N374K|LUC7L2_uc003vux.3_Missense_Mutation_p.N375K|LUC7L2_uc003vva.3_Missense_Mutation_p.N322K|LOC100129148_uc022ams.1_Intron	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	375							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					AGAGTGCTAATGGCAGATCAG	0.478000														82			85		0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	137928319	137928319	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:137928319A>G	uc002tva.1	+	5	1441	c.1441A>G	c.(1441-1443)Acg>Gcg	p.T481A	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.T371A	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGATTTAGAACGAGGCAGCG	0.453000														73			9		0	0	0.008291	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656765	29656765	+	Silent	SNP	C	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr22:29656765C>A	uc003aeq.1	-	4	993	c.621G>T	c.(619-621)ggG>ggT	p.G207G		NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	207						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						GGGGCCAGCACCCCGCCAAGG	0.692000														16			9		0.00448238	0.00488081	0.004482	1	0
PPP1R36	145376	broad.mit.edu	37	14	65032084	65032084	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr14:65032084T>A	uc001xhl.1	+	4	375	c.279T>A	c.(277-279)gaT>gaA	p.D93E		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	93																	GGTTGACAGATAAAAGACTTG	0.338000														22			12		0	0	0.013537	0	0
TRIM8	81603	broad.mit.edu	37	10	104404881	104404881	+	Silent	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr10:104404881C>T	uc001kvz.2	+	0	630	c.507C>T	c.(505-507)taC>taT	p.Y169Y		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	169						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding	p.Y169H(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTGCTGCTACTACAGCGGCG	0.662000														29			8		0	0	0.004482	0	0
RGS1	5996	broad.mit.edu	37	1	192547354	192547354	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:192547354G>C	uc001gsi.1	+	3	349	c.283G>C	c.(283-285)Ggt>Cgt	p.G95R	RGS1_uc010pou.1_Missense_Mutation_p.G95R	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	95	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CTTTTTAGCTGGTCAAAATGT	0.343000														89			35		0	0	0.017118	0	0
NUP133	55746	broad.mit.edu	37	1	229631732	229631732	+	Silent	SNP	G	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:229631732G>T	uc001htn.3	-	6	974	c.882C>A	c.(880-882)atC>atA	p.I294I		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	294			I -> V (in dbSNP:rs11805194).		carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	p.I294V(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CCCATTTACTGATGTTTGAAC	0.363000														39			27		2.48779e-11	2.9374e-11	0.027356	1	0
abParts	0	broad.mit.edu	37	14	107062402	107062402	+	RNA	SNP	G	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr14:107062402G>C	uc021ser.1	-	150		c.6584C>G								Parts of antibodies, mostly variable regions.																		TCCTGGGCCCGACTCCTGCAG	0.597000														90			7		0	0	0.010729	0	0
FEZF1	389549	broad.mit.edu	37	7	121944146	121944146	+	Missense_Mutation	SNP	T	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr7:121944146T>G	uc003vkd.3	-	0	420	c.346A>C	c.(346-348)Agc>Cgc	p.S116R	FEZF1_uc003vkc.3_Missense_Mutation_p.S116R|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	116					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TCGCTGCAGCTGAATGCGGGA	0.716000														9			3		0	0	0.004672	0	0
RNF213	57674	broad.mit.edu	37	17	78321576	78321576	+	Silent	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr17:78321576C>T	uc002jyh.2	+	29	9731	c.9588C>T	c.(9586-9588)cgC>cgT	p.R3196R	RNF213_uc021uen.1_Silent_p.R3147R	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCAACTTCCGCCTGATTGTCA	0.552000														74			6		0	0	0.021553	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														37			6		0	0	0.001984	0	0
NCAM2	4685	broad.mit.edu	37	21	22658662	22658662	+	Silent	SNP	A	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr21:22658662A>T	uc002yld.2	+	3	660	c.411A>T	c.(409-411)cgA>cgT	p.R137R	NCAM2_uc011acb.2_Intron|NCAM2_uc011acc.2_Silent_p.R162R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	137	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGGTTTGCCGAGTTAGCAGTT	0.398000														35			13		0	0	0.020292	0	0
PCDH15	65217	broad.mit.edu	37	10	55570392	55570392	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr10:55570392C>T	uc021pqw.1	-	34	4831	c.4436G>A	c.(4435-4437)cGa>cAa	p.R1479Q	PCDH15_uc010qhq.2_Missense_Mutation_p.R1472Q|PCDH15_uc010qhr.2_Missense_Mutation_p.R1467Q|PCDH15_uc021pqv.1_Missense_Mutation_p.D1493N|PCDH15_uc010qht.2_Missense_Mutation_p.R1474Q|PCDH15_uc021pqx.1_Missense_Mutation_p.D1491N	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTAACAATCGACGGCGACT	0.393000										HNSCC(58;0.16)				114			46		0	0	0.014410	0	0
PEF1	553115	broad.mit.edu	37	1	32100955	32100955	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:32100955C>A	uc001bth.2	-	1	566	c.193G>T	c.(193-195)Gga>Tga	p.G65*	PEF1_uc021okp.1_5'UTR|PEF1_uc021okq.1_Intron|PEF1_uc001bte.1_5'Flank|PEF1_uc010ogm.2_Nonsense_Mutation_p.G65*	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	65	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TTGGGGTGTCCATAGGGCCCT	0.627000														30			17		4.7546e-09	5.48178e-09	0.028581	1	0
RPS6KA3	6197	broad.mit.edu	37	X	20194424	20194424	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chrX:20194424C>T	uc004czu.3	-	12	1046	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	RPS6KA3_uc011mjk.2_Missense_Mutation_p.G320D|RPS6KA3_uc004czv.3_Missense_Mutation_p.G337D|RPS6KA3_uc011mjl.2_Missense_Mutation_p.G321D|RPS6KA3_uc011mjm.2_Missense_Mutation_p.G321D	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	349	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	p.T348T(2)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TTCAGGCCTGCCCGTTGCAGG	0.328000														33			3		0	0	0.014758	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227616	56227616	+	Silent	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr20:56227616C>T	uc002xyq.3	-	3	750	c.357G>A	c.(355-357)ctG>ctA	p.L119L	PMEPA1_uc002xyr.3_Silent_p.L69L|PMEPA1_uc002xys.3_Silent_p.L84L|PMEPA1_uc002xyt.3_Silent_p.L69L	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	119					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GCGGCACGGCCAGGCGGTCGG	0.692000														10			3		0	0	0.004672	0	0
PRSS55	203074	broad.mit.edu	37	8	10390473	10390473	+	Nonsense_Mutation	SNP	G	A	A	rs150767306		TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr8:10390473G>A	uc003wta.3	+	3	696	c.656G>A	c.(655-657)tGg>tAg	p.W219*	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Nonsense_Mutation_p.W219*|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	219	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATCATGGACTGGGAGGAGTGT	0.473000														51			30		0	0	0.009535	0	0
BAI3	577	broad.mit.edu	37	6	69943243	69943243	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:69943243C>T	uc010kak.3	+	16	2818	c.2542C>T	c.(2542-2544)Cat>Tat	p.H848Y	BAI3_uc003pev.4_Missense_Mutation_p.H848Y|BAI3_uc011dxx.2_Missense_Mutation_p.H54Y	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	848	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CGATGCATCCCATACGAAATG	0.473000														138			63		0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38709565	38709565	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:38709565A>G	uc021yzh.1	+	7	1304	c.1195A>G	c.(1195-1197)Atg>Gtg	p.M399V	DNAH8_uc003ooe.2_Missense_Mutation_p.M182V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGGAAACGCATGTCAGCCAA	0.398000														45			22		0	0	0.021523	0	0
PTPRJ	5795	broad.mit.edu	37	11	48149503	48149503	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr11:48149503C>T	uc001ngp.4	+	6	1620	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	PTPRJ_uc001ngo.4_Missense_Mutation_p.P422L	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	422	Fibronectin type-III 4.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCTGTCATCCCCGGACTCCGC	0.552000														76			40		0	0	0.023175	0	0
CECR2	27443	broad.mit.edu	37	22	18021911	18021911	+	Silent	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr22:18021911C>T	uc010gqw.1	+	14	2007	c.2007C>T	c.(2005-2007)tgC>tgT	p.C669C	CECR2_uc010gqv.1_Silent_p.C530C|CECR2_uc002zml.2_Silent_p.C530C	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	713					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCAAATGTGCGGGGGGCTGA	0.557000														18			8		0	0	0.003080	0	0
OBFC2A	64859	broad.mit.edu	37	2	192543405	192543405	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:192543405A>C	uc002usx.3	+	0	545	c.65A>C	c.(64-66)aAt>aCt	p.N22T	OBFC2A_uc021vuf.1_Intron|OBFC2A_uc002usw.3_Intron|OBFC2A_uc002usy.3_Non-coding_Transcript	NM_001031716	NP_001241665	Q96AH0	SOSB2_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2A (OBFC2A), transcript variant 1, mRNA.	22					G2/M transition checkpoint|double-strand break repair via homologous recombination|response to ionizing radiation	SOSS complex	single-stranded DNA binding	p.L21L(1)		kidney(2)|large_intestine(2)|lung(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)			AAAAACTTAAATGTCGTCTTT	0.562000														53			26		0	0	0.024334	0	0
RFX6	222546	broad.mit.edu	37	6	117245902	117245902	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:117245902T>A	uc003pxm.3	+	14	1689	c.1626T>A	c.(1624-1626)aaT>aaA	p.N542K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	542					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.N542S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGTTTAATAATGACAAAGAGC	0.338000														59			18		0	0	0.006122	0	0
TOP3A	7156	broad.mit.edu	37	17	18212208	18212208	+	Silent	SNP	A	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr17:18212208A>G	uc002gsx.1	-	1	457	c.228T>C	c.(226-228)caT>caC	p.H76H	TOP3A_uc002gsw.1_5'Flank|TOP3A_uc010vxs.1_5'UTR|TOP3A_uc010cqa.1_Intron	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	76	Toprim.				DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGCCATACAGATGATAATCAA	0.289000														22			10		0	0	0.020292	0	0
MTMR14	64419	broad.mit.edu	37	3	9691346	9691346	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr3:9691346C>G	uc003brz.3	+	0	230	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	MTMR14_uc003bsa.3_Missense_Mutation_p.L27V|MTMR14_uc003bsb.3_Missense_Mutation_p.L27V|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Missense_Mutation_p.L27V	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	27						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GCCTCAGGAGCTGGGGCTTGG	0.721000														11			3		0	0	0.009096	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:45390466A>G	uc011dvx.2	+	2	405	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_uc011dvy.2_Silent_p.Q65Q|RUNX2_uc003oxt.3_Silent_p.Q51Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000														27			3		0	0	0.004672	0	0
KIAA0556	23247	broad.mit.edu	37	16	27720066	27720066	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr16:27720066T>C	uc002dow.3	+	12	1454	c.1430T>C	c.(1429-1431)aTc>aCc	p.I477T	KIAA0556_uc002dox.1_Missense_Mutation_p.I385T	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	477										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAAGATGCCATCTACGTGACC	0.453000														91			23		0	0	0.021523	0	0
PTGER1	5731	broad.mit.edu	37	19	14584193	14584193	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr19:14584193G>T	uc002mys.3	-	1	1058	c.940C>A	c.(940-942)Ctg>Atg	p.L314M		NM_000955	NP_000946	P34995	PE2R1_HUMAN	Homo sapiens prostaglandin E receptor 1 (subtype EP1), 42kDa (PTGER1), mRNA.	314						integral to plasma membrane	prostaglandin E receptor activity									Alprostadil(DB00770)|Bimatoprost(DB00905)|Bupivacaine(DB00297)|Carboprost Tromethamine(DB00429)	CCCCTCACCAGCATTGGGCTC	0.687000											OREG0025314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			4		0.000602214	0.000670648	0.014758	1	0
SF3B1	23451	broad.mit.edu	37	2	198274598	198274598	+	Missense_Mutation	SNP	G	T	T	rs1044635		TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:198274598G>T	uc002uue.3	-	6	848	c.800C>A	c.(799-801)aCt>aAt	p.T267N		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	267	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCGTCCAGGAGTAGCAGCTCC	0.562000			Mis		myelodysplastic syndrome									134			69		8.83742e-36	1.08258e-35	0.014410	1	0
VARS2	57176	broad.mit.edu	37	6	30888201	30888201	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:30888201T>C	uc011dmz.2	+	13	1556	c.1475T>C	c.(1474-1476)cTg>cCg	p.L492P	VARS2_uc003nsc.2_Missense_Mutation_p.L462P|VARS2_uc011dmx.2_Missense_Mutation_p.L462P|VARS2_uc011dmy.2_Missense_Mutation_p.L322P|VARS2_uc011dna.2_Missense_Mutation_p.L460P|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'UTR|VARS2_uc010jsg.2_5'UTR|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	462					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCATGGTACTGCCCATCTGC	0.527000														35			16		0	0	0.006122	0	0
ARID1A	8289	broad.mit.edu	37	1	27087947	27087947	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:27087947G>A	uc001bmv.1	+	5	2607	c.2234G>A	c.(2233-2235)aGc>aAc	p.S745N	ARID1A_uc001bmt.1_Missense_Mutation_p.S745N|ARID1A_uc001bmu.1_Missense_Mutation_p.S745N|ARID1A_uc001bmw.1_Missense_Mutation_p.S362N	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	745					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCAATCAAGCATTGCCCAA	0.547000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									83			7		0	0	0.003080	0	0
EIF2S1	1965	broad.mit.edu	37	14	67848335	67848335	+	Silent	SNP	T	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr14:67848335T>C	uc001xjg.3	+	5	747	c.606T>C	c.(604-606)taT>taC	p.Y202Y		NM_004094	NP_004085	P05198	IF2A_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa (EIF2S1), mRNA.	202						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		GTTATGGTTATGAAGGCATTG	0.343000														72			42		0	0	0.014410	0	0
MEGF8	1954	broad.mit.edu	37	19	42861598	42861598	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr19:42861598C>G	uc002otl.4	+	26	5307	c.4672C>G	c.(4672-4674)Ctt>Gtt	p.L1558V	MEGF8_uc002otm.4_Missense_Mutation_p.L1166V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1625						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGTCACACCCTTACTGCCCG	0.652000														96			35		0	0	0.027894	0	0
DNAJC22	79962	broad.mit.edu	37	12	49743366	49743366	+	Silent	SNP	T	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr12:49743366T>C	uc001rua.3	+	1	1112	c.711T>C	c.(709-711)ctT>ctC	p.L237L	DNAJC22_uc001rub.3_Silent_p.L237L	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.	237					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TTGTCCTCCTTCTGCCTTACC	0.532000														155			72		0	0	0.014410	0	0
AEBP1	165	broad.mit.edu	37	7	44152208	44152208	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr7:44152208G>C	uc003tkb.3	+	17	2574	c.2269G>C	c.(2269-2271)Gtg>Ctg	p.V757L	AEBP1_uc003tkc.4_Missense_Mutation_p.V332L|AEBP1_uc003tkd.3_Missense_Mutation_p.V7L	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	757	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAACCCCTTCGTGCTGGGAGC	0.642000														85			33		0	0	0.015359	0	0
WDR65	149465	broad.mit.edu	37	1	43649478	43649478	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:43649478G>C	uc021omk.1	+	3	837	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.E220Q|WDR65_uc001ciq.2_Missense_Mutation_p.E231Q|WDR65_uc001cip.2_Missense_Mutation_p.E231Q	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	231										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCAGCGTTGGGAGACCAGCAT	0.502000														120			40		0	0	0.013114	0	0
DSEL	92126	broad.mit.edu	37	18	65181492	65181492	+	Silent	SNP	A	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr18:65181492A>G	uc002lke.1	-	1	1608	c.384T>C	c.(382-384)aaT>aaC	p.N128N	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Silent_p.N128N	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	118						integral to membrane	isomerase activity|sulfotransferase activity	p.W127G(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CATAAATTTCATTCCACTTGG	0.403000														80			34		0	0	0.021022	0	0
CLDN7	1366	broad.mit.edu	37	17	7163815	7163815	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr17:7163815A>C	uc002gfm.4	-	3	1416	c.514T>G	c.(514-516)Tct>Gct	p.S172A	CLDN7_uc010cmc.3_Silent_p.G143G|CLDN7_uc002gfn.4_Missense_Mutation_p.S172A	NM_001307	NP_001298	O95471	CLD7_HUMAN	Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.	172					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	p.S172A(2)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ACTAGGGCAGACCCTGCCCAG	0.572000														19			6		0	0	0.008871	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617692	54617692	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr7:54617692C>T	uc022adk.1	+	3	868	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	VSTM2A_uc010kzf.3_Missense_Mutation_p.R155C	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	155						extracellular region		p.R155C(2)|p.R154C(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CAGCCATGCCCGCAGAATGCA	0.577000														15			12		0	0	0.010729	0	0
WWC2	80014	broad.mit.edu	37	4	184166688	184166688	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr4:184166688A>C	uc010irx.3	+	5	904	c.722A>C	c.(721-723)gAt>gCt	p.D241A	WWC2_uc003ivk.4_Missense_Mutation_p.D36A|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Intron	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	241										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAAAAACAAGATCTGATGCAG	0.433000														30			10		0	0	0.013537	0	0
ELF3	1999	broad.mit.edu	37	1	201980419	201980420	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr1:201980419_201980420insG	uc001gxg.4	+	0	3347_3348	c.155_156insG	c.(154-156)gagfs	p.E52fs	ELF3_uc001gxi.4_Frame_Shift_Ins_p.E52fs|ELF3_uc001gxh.4_Frame_Shift_Ins_p.E52fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	52	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E52G(3)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ATGTCATTGGAGGGTACAGGTG	0.609													---	130	---	---	11	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													---	6	---	---	4	---					
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	T	T	rs76346895		TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr3:75790810_75790811insT	uc011bgi.2	-	2	457_458	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_uc003dpw.3_Non-coding_Transcript	NM_001128223	NP_001121695	C9JSV9	C9JSV9_HUMAN	Homo sapiens zinc finger protein 717 (ZNF717), mRNA.	45					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.510													---	5	---	---	5	---					
UBR2	23304	broad.mit.edu	37	6	42610219	42610220	+	Splice_Site	INS	-	GTAAT	GTAAT			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr6:42610219_42610220insGTAAT	uc011dur.2	+	18	2395	c.2097_splice	c.e18+1	p.Q699_splice	UBR2_uc011dus.2_Splice_Site_p.Q344_splice|UBR2_uc010jxv.1_Splice_Site_p.Q203_splice|UBR2_uc003osh.3_Splice_Site	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	699					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TAATGCTTCAGGTAATGAATTA	0.312													---	30	---	---	7	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	-	-			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr11:108788635_108788637delTGA	uc001pkm.3	+	16	2405_2407	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_uc001pkl.1_In_Frame_Del_p.D788del	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	788							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								---	76	---	---	7	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	-	-			TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr19:45911859_45911861delGAA	uc002pbr.1	+	2	645_647	c.639_641delGAA	c.(637-642)cggaag>cgg	p.K219del	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	217					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.N218fs*58(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													---	149	---	---	8	---					
CHD6	84181	broad.mit.edu	37	20	40033403	40033405	+	In_Frame_Del	DEL	TCT	-	-	rs146425509		TCGA-DW-7834-01A-11D-2136-08	TCGA-DW-7834-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7db203-247b-49e1-a80e-c8be4047bc17	1354f438-e892-40c1-84b6-cd15f786a963	g.chr20:40033403_40033405delTCT	uc002xka.1	-	36	8154_8156	c.7976_7978delAGA	c.(7975-7980)aagaca>aca	p.K2659del	CHD6_uc002xjz.1_In_Frame_Del_p.K196del	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2659	Poly-Lys.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCCCCCTTTGTCTTCTTCTTCTT	0.586													---	150	---	---	12	---					
