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
BC101079	0	broad.mit.edu	37	15	102292813	102292813	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:102292813T>G	uc010usj.2	+	3	460	c.401T>G	c.(400-402)gTg>gGg	p.V134G	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		TGCACTCGCGTGGGAACGAGA	0.607000														10			3		0	0	0.009096	0	0
MN1	4330	broad.mit.edu	37	22	28192785	28192785	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr22:28192785C>T	uc003adj.3	-	0	4702	c.3747G>A	c.(3745-3747)gaG>gaA	p.E1249E		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1249							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTTTGGCCTTCTCCCAGGGCG	0.617000			T	ETV6	"""AML, meningioma"""									130			50		0	0	0.014410	0	0
MGRN1	23295	broad.mit.edu	37	16	4701967	4701967	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:4701967C>T	uc002cxa.3	+	2	348	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	MGRN1_uc002cwz.3_Missense_Mutation_p.P71S|MGRN1_uc010uxo.2_Missense_Mutation_p.P71S|MGRN1_uc010uxp.2_Missense_Mutation_p.P71S|MGRN1_uc010btw.3_Missense_Mutation_p.P71S|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	71					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTCCTAGTTTCCCTACGTCAC	0.612000														39			16		0	0	0.007413	0	0
HEATR7A	727957	broad.mit.edu	37	8	145235343	145235343	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:145235343C>T	uc003zbk.4	+	6	716	c.479C>T	c.(478-480)cCc>cTc	p.P160L	HEATR7A_uc003zbg.2_Missense_Mutation_p.P160L|HEATR7A_uc003zbi.4_Missense_Mutation_p.P160L|HEATR7A_uc003zbh.4_Missense_Mutation_p.P160L|HEATR7A_uc011lla.1_Missense_Mutation_p.P160L|HEATR7A_uc010mft.3_Missense_Mutation_p.P160L	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA.	160							binding			endometrium(2)|kidney(2)|lung(3)|skin(1)	8						GGCGTAGTCCCCTTCCTGCCA	0.692000														31			19		0	0	0.010504	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201758	21201758	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:21201758C>T	uc002gys.3	+	1	348	c.83C>T	c.(82-84)tCc>tTc	p.S28F	MAP2K3_uc002gyt.3_5'UTR|MAP2K3_uc021tsq.1_5'UTR|MAP2K3_uc021tsr.1_5'UTR	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	28					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S32Y(1)|p.S32F(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CTACGGATATCCTGCATGTCC	0.557000														204			38		0	0	0.008740	0	0
PRKACB	5567	broad.mit.edu	37	1	84700931	84700931	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:84700931A>T	uc001djl.3	+	9	1233	c.1140A>T	c.(1138-1140)gaA>gaT	p.E380D	PRKACB_uc001djj.3_Missense_Mutation_p.E333D|PRKACB_uc001djn.3_Missense_Mutation_p.E337D|PRKACB_uc010oru.2_Missense_Mutation_p.E321D|PRKACB_uc010ort.2_Missense_Mutation_p.E340D|PRKACB_uc001djp.3_Missense_Mutation_p.E339D|PRKACB_uc001djq.3_Missense_Mutation_p.E303D|PRKACB_uc010orv.2_Missense_Mutation_p.E320D	NM_182948	NP_891993	P22694	KAPCB_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, beta (PRKACB), transcript variant 1, mRNA.	333					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACTATGAAGAAGAAGATATCC	0.368000														50			19		0	0	0.007413	0	0
POU5F1	5460	broad.mit.edu	37	6	31133748	31133748	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:31133748C>T	uc003nsv.3	-	1	536	c.482G>A	c.(481-483)gGa>gAa	p.G161E	POU5F1_uc003nsu.3_5'UTR|POU5F1_uc021yuj.1_5'UTR|POU5F1_uc011dnf.1_Non-coding_Transcript	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.	161	POU-specific.				BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						CTGTGTATATCCCAGGGTGAT	0.517000			T	EWSR1	sarcoma									17			13		0	0	0.013537	0	0
MUC16	94025	broad.mit.edu	37	19	9061059	9061059	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:9061059G>T	uc002mkp.3	-	2	26591	c.26387C>A	c.(26386-26388)gCa>gAa	p.A8796E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8798	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGAGGATGCCCCAGAATG	0.517000														58			26		3.73808e-20	5.85343e-20	0.027356	1	0
C6	729	broad.mit.edu	37	5	41142989	41142989	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:41142989C>A	uc003jmk.2	-	17	2953	c.2743G>T	c.(2743-2745)Gga>Tga	p.G915*	C6_uc003jml.1_Nonsense_Mutation_p.G915*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	915	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTATAGTTCCCACTTCACAG	0.438000														51			31		3.11337e-16	4.85638e-16	0.013726	1	0
TNFSF10	8743	broad.mit.edu	37	3	172224556	172224556	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:172224556C>T	uc003fid.3	-	4	695	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	191					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTCCTGAAATCGAAAGTATGT	0.363000														55			28		0	0	0.007291	0	0
FNIP2	57600	broad.mit.edu	37	4	159780304	159780304	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:159780304C>T	uc003iqe.4	+	8	1136	c.953C>T	c.(952-954)tCc>tTc	p.S318F		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	318					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		ATCATCTTTTCCCTATGTGAG	0.413000														33			16		0	0	0.004990	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13915790	13915790	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:13915790C>T	uc002mxh.1	+	2	729	c.540C>T	c.(538-540)caC>caT	p.H180H	ZSWIM4_uc010xng.1_5'UTR	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	180							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGCACGCCCACCAGGTGGAGC	0.632000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			14		0	0	0.016723	0	0
PSMB1	5689	broad.mit.edu	37	6	170855238	170855238	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:170855238G>A	uc011ehe.2	-	2	343	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	PSMB1_uc003qxq.2_Non-coding_Transcript|PSMB1_uc003qxr.3_5'UTR	NM_002793	NP_002784	P20618	PSB1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 1 (PSMB1), mRNA.	86					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|interspecies interaction between organisms|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	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CAGTCTCCATGAAAACCGCTG	0.338000														3			11		0	0	0.013537	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39323982	39323982	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:39323982G>A	uc010cxl.3	-	0	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	Homo sapiens keratin associated protein 4-3 (KRTAP4-3), mRNA.	148	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCGGCAGCAGGAGGGCTGGCA	0.622000														13			10		0	0	0.013537	0	0
EPHA1	2041	broad.mit.edu	37	7	143095971	143095971	+	Silent	SNP	T	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:143095971T>C	uc003wcz.3	-	5	1146	c.1059A>G	c.(1057-1059)gaA>gaG	p.E353E		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	353	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTGCTGGGGGTTCCCAACGCA	0.647000														22			7		0	0	0.004482	0	0
ABCB5	340273	broad.mit.edu	37	7	20721151	20721151	+	Silent	SNP	C	T	T	rs149931729	byFrequency	TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:20721151C>T	uc010kuh.3	+	14	1968	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	ABCB5_uc003suw.4_Silent_p.I132I	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	132	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGACTACAATCGTGGTAGCAC	0.398000														34			33		0	0	0.019004	0	0
CHL1	10752	broad.mit.edu	37	3	423874	423874	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:423874C>T	uc003bot.3	+	16	2531	c.1889C>T	c.(1888-1890)cCa>cTa	p.P630L	CHL1_uc003bou.3_Missense_Mutation_p.P614L|CHL1_uc003bow.2_Missense_Mutation_p.P614L|CHL1_uc011asi.2_Missense_Mutation_p.P630L|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	614	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTTCCGGATCCACCAGAAAAC	0.458000														33			27		0	0	0.010818	0	0
MYH1	4619	broad.mit.edu	37	17	10419889	10419889	+	Missense_Mutation	SNP	C	T	T	rs61730792	byFrequency	TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:10419889C>T	uc002gmo.3	-	2	165	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	24	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R24Q(2)|p.E23D(1)|p.R24*(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCTTCAATTCGCTCCCTTTC	0.507000														61			41		0	0	0.007835	0	0
CASR	846	broad.mit.edu	37	3	122003562	122003562	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:122003562G>A	uc003eew.4	+	6	3229	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	CASR_uc003eev.4_Missense_Mutation_p.E921K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	921					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAGCAACAGCGAAGACCCATT	0.662000														13			11		0	0	0.010729	0	0
BBS2	583	broad.mit.edu	37	16	56534820	56534820	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:56534820G>A	uc002ejd.2	-	10	1577	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	448					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GACATCTTTGGGAGGCACAAT	0.473000									Bardet-Biedl syndrome					41			25		0	0	0.018920	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758246	40758246	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:40758246T>A	uc001cfg.3	+	9	1544	c.1333T>A	c.(1333-1335)Ttc>Atc	p.F445I		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	445						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TAACTTGGGATTCCCTGTTTC	0.393000														53			42		0	0	0.007835	0	0
NR3C2	4306	broad.mit.edu	37	4	149357927	149357927	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:149357927G>A	uc003ilj.4	-	1	449	c.86C>T	c.(85-87)tCt>tTt	p.S29F	NR3C2_uc003ilk.4_Missense_Mutation_p.S29F|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	29	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCCCAGGGAAGAACGCTCCAC	0.473000														31			15		0	0	0.020292	0	0
MYOCD	93649	broad.mit.edu	37	17	12666901	12666901	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:12666901C>T	uc002gno.2	+	13	3200	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	MYOCD_uc002gnn.2_Silent_p.F919F|MYOCD_uc002gnq.2_Silent_p.F643F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	919					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACATCGATTTCCTGGATGTCA	0.517000														26			20		0	0	0.014323	0	0
IL27RA	9466	broad.mit.edu	37	19	14159813	14159813	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:14159813C>T	uc002mxx.3	+	8	1585	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	388	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGTCGGGGTCCCCTATCGAAT	0.537000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			23		0	0	0.007291	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369744	77369744	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:77369744C>T	uc002ffc.4	-	11	2187	c.1768G>A	c.(1768-1770)Ggc>Agc	p.G590S	ADAMTS18_uc010chc.1_Missense_Mutation_p.G178S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G286S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	590	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GACCACTGGCCGTGGATGGGC	0.577000														121			69		0	0	0.014410	0	0
SESTD1	91404	broad.mit.edu	37	2	180014090	180014090	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:180014090G>A	uc002uni.4	-	6	665	c.515C>T	c.(514-516)tCa>tTa	p.S172L		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	172					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	p.S172S(1)		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)			ATCTAATAATGATGTAGATTC	0.308000														18			7		0	0	0.001984	0	0
ASTN2	23245	broad.mit.edu	37	9	119188216	119188216	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:119188216T>C	uc004bjt.2	-	21	3882	c.3781A>G	c.(3781-3783)Agc>Ggc	p.S1261G	ASTN2_uc022bml.1_Missense_Mutation_p.S957G|ASTN2_uc022bmm.1_Missense_Mutation_p.S961G|ASTN2_uc004bjp.2_Missense_Mutation_p.S413G|ASTN2_uc011lxr.2_Missense_Mutation_p.S364G|ASTN2_uc011lxs.2_Missense_Mutation_p.S364G|ASTN2_uc011lxt.2_Missense_Mutation_p.S364G|ASTN2_uc004bjq.2_Missense_Mutation_p.S364G	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1312						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTGAGGATGCTATACCACACC	0.592000														6			25		0	0	0.018920	0	0
CDHR5	53841	broad.mit.edu	37	11	619534	619534	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:619534C>T	uc001lql.3	-	10	1500	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	CDHR5_uc001lqj.3_Missense_Mutation_p.M411I|CDHR5_uc009ycd.3_Missense_Mutation_p.M411I|CDHR5_uc001lqk.3_Missense_Mutation_p.M411I|CDHR5_uc009ycc.3_Missense_Mutation_p.M245I|CDHR5_uc001lqm.2_Missense_Mutation_p.M245I|CDHR5_uc009yce.1_Missense_Mutation_p.M380I	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	411	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCTCTCCCTCCATCCGGAAGT	0.627000														16			31		0	0	0.015359	0	0
FREM1	158326	broad.mit.edu	37	9	14846007	14846007	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:14846007G>A	uc003zlm.3	-	8	2160	c.1344C>T	c.(1342-1344)gtC>gtT	p.V448V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	448					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGACTAGCCGGACAGCACCAA	0.478000														2			10		0	0	0.008291	0	0
TCOF1	6949	broad.mit.edu	37	5	149771544	149771544	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:149771544C>T	uc003lry.3	+	20	3430	c.3322C>T	c.(3322-3324)Cct>Tct	p.P1108S	TCOF1_uc003lrz.3_Missense_Mutation_p.P1070S|TCOF1_uc011dch.2_Missense_Mutation_p.P1070S|TCOF1_uc003lrx.3_Missense_Mutation_p.P1031S|TCOF1_uc003lsa.3_Missense_Mutation_p.P1031S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1108					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAACACTCCCTGCAACAAG	0.522000														7			15		0	0	0.028581	0	0
OR52L1	338751	broad.mit.edu	37	11	6007836	6007836	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:6007836C>T	uc001mcd.2	-	0	380	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E94K(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCCAATCTCGTGGGCATGA	0.537000														5			13		0	0	0.020292	0	0
RADIL	55698	broad.mit.edu	37	7	4917310	4917310	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:4917310G>A	uc003snj.1	-	1	634	c.461C>T	c.(460-462)tCc>tTc	p.S154F	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	154	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AAACCTCCGGGATAAACCTTC	0.607000														77			30		0	0	0.009535	0	0
TAB3	257397	broad.mit.edu	37	X	30849651	30849651	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrX:30849651G>A	uc004dcj.3	-	10	2695	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	TAB3_uc004dck.3_Nonsense_Mutation_p.R678*|TAB3_uc010ngl.3_Nonsense_Mutation_p.R650*	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	678					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TCTTCATCTCGAGGTTGTGTC	0.502000														9			14		0	0	0.024245	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107231	107231	+	RNA	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrGL000211.1:107231C>T	uc003boa.3	+	4		c.771C>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GACAGGCTGTCCATTGCCAGG	0.383000														188			44		0	0	0.014410	0	0
DNAH11	8701	broad.mit.edu	37	7	21778399	21778399	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:21778399G>A	uc003svc.3	+	47	7778	c.7747G>A	c.(7747-7749)Gac>Aac	p.D2583N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2583	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2582I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATTTTATCGACGACATGAA	0.388000									Kartagener syndrome					7			13		0	0	0.013537	0	0
GPR179	440435	broad.mit.edu	37	17	36485889	36485889	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:36485889C>T	uc002hpz.3	-	10	3584	c.3563G>A	c.(3562-3564)gGg>gAg	p.G1188E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1188						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTCCGTTCCCCTAGACCCTG	0.537000														125			86		0	0	0.014410	0	0
MTERFD1	51001	broad.mit.edu	37	8	97270633	97270633	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:97270633G>A	uc003yhs.1	-	1	364	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	MTERFD1_uc003yhr.1_5'Flank|MTERFD1_uc010mbd.1_Nonsense_Mutation_p.Q96*	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	96					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGTGTCTTCTGTGACTGTTCA	0.408000														18			7		0	0	0.003080	0	0
ITIH5	80760	broad.mit.edu	37	10	7679252	7679252	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr10:7679252G>A	uc021pmv.1	-	4	697	c.591C>T	c.(589-591)atC>atT	p.I197I	ITIH5_uc001ijr.2_Silent_p.I197I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	197					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCAGGGATGCGATGCCCGCGC	0.657000														19			68		0	0	0.014410	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39907045	39907045	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:39907045C>T	uc010xuz.2	+	4	862	c.537C>T	c.(535-537)ttC>ttT	p.F179F	PLEKHG2_uc010xuy.2_Silent_p.F120F|PLEKHG2_uc002olj.3_Silent_p.F179F|PLEKHG2_uc010xva.2_5'UTR	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	179	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCGAGTGCTTCGTGCAGAGGG	0.662000														43			34		0	0	0.017118	0	0
C2orf61	285051	broad.mit.edu	37	2	47382311	47382311	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:47382311G>A	uc010yog.2	-	1	208	c.81_splice	c.e1+1	p.S27_splice	C2orf61_uc010fbd.3_Intron|C2orf61_uc002rvs.2_Splice_Site_p.S27_splice	NM_001163561	NP_001157033	Q8N801	CB061_HUMAN	Homo sapiens chromosome 2 open reading frame 61 (C2orf61), transcript variant 1, mRNA.	27								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCATCTTACCGAAGCTGTGAT	0.617000														17			8		0	0	0.004482	0	0
COL11A1	1301	broad.mit.edu	37	1	103400018	103400018	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:103400018G>A	uc001dum.3	-	45	3941	c.3623C>T	c.(3622-3624)cCa>cTa	p.P1208L	COL11A1_uc001duk.3_Missense_Mutation_p.P392L|COL11A1_uc001dul.3_Missense_Mutation_p.P1196L|COL11A1_uc001dun.3_Missense_Mutation_p.P1157L|COL11A1_uc009weh.3_Missense_Mutation_p.P1080L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1196	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAGACCTATTGGACCAGGAGG	0.468000														51			31		0	0	0.013726	0	0
IL1B	3553	broad.mit.edu	37	2	113591100	113591100	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:113591100C>T	uc002tii.1	-	3	239	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	IL1B_uc002tih.1_Missense_Mutation_p.R20Q	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	51					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.R51Q(2)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GTCGGAGATTCGTAGCTGGAT	0.627000														57			40		0	0	0.007835	0	0
SLC2A13	114134	broad.mit.edu	37	12	40153884	40153884	+	Missense_Mutation	SNP	G	A	A	rs141841078		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:40153884G>A	uc010skm.2	-	9	1942	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	C12orf40_uc009zjv.1_Intron	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	631						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCTTTACCCGAATATATTCA	0.353000										HNSCC(50;0.14)				26			12		0	0	0.024245	0	0
GSPT1	2935	broad.mit.edu	37	16	11967011	11967011	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:11967011C>T	uc010bux.3	-	14	2148	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	GSPT1_uc002dbu.3_Missense_Mutation_p.G626R|GSPT1_uc002dbt.3_Missense_Mutation_p.G627R	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	489					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						AGAACTTTTCCAATTGCAATG	0.323000														84			48		0	0	0.014410	0	0
TBXAS1	6916	broad.mit.edu	37	7	139715526	139715526	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:139715526C>T	uc011kqv.2	+	11	1606	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	TBXAS1_uc003vvh.3_Silent_p.F411F|TBXAS1_uc010lne.3_Silent_p.F343F|TBXAS1_uc011kqu.2_Silent_p.F362F|TBXAS1_uc003vvi.3_Silent_p.F411F|TBXAS1_uc011kqw.2_Silent_p.F391F|TBXAS1_uc003vvj.3_Silent_p.F411F	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	410					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCCTCAGATTCACACGGGAGG	0.637000														43			38		0	0	0.011902	0	0
FAT1	2195	broad.mit.edu	37	4	187549870	187549870	+	Silent	SNP	A	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:187549870A>T	uc003izf.3	-	7	4559	c.4371T>A	c.(4369-4371)tcT>tcA	p.S1457S		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1457	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTTTGATGTAGAAAACTGAG	0.333000										HNSCC(5;0.00058)				19			19		0	0	0.010504	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86522286	86522286	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:86522286G>A	uc011kha.2	-	19	3001	c.2816C>T	c.(2815-2817)gCc>gTc	p.A939V	KIAA1324L_uc003uie.3_Missense_Mutation_p.A772V|KIAA1324L_uc011kgz.2_Missense_Mutation_p.A825V|KIAA1324L_uc003uif.2_Missense_Mutation_p.A691V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	939						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CAGCAAAACGGCAGTAAAAGC	0.458000														79			35		0	0	0.013726	0	0
ZNF423	23090	broad.mit.edu	37	16	49669816	49669816	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:49669816C>G	uc002efs.3	-	4	3545	c.3247G>C	c.(3247-3249)Gac>Cac	p.D1083H	ZNF423_uc010vgn.2_Missense_Mutation_p.D966H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1083					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCATTGACGTCAAGCTTCACC	0.701000														8			7		0	0	0.003080	0	0
DBC1	1620	broad.mit.edu	37	9	121929550	121929550	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:121929550G>A	uc004bkc.2	-	7	2554	c.2098C>T	c.(2098-2100)Cgg>Tgg	p.R700W		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	700					cell cycle arrest|cell death	cytoplasm	protein binding	p.R700W(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ATTCGGTCCCGAATATCCAAC	0.572000														29			82		0	0	0.014410	0	0
TSPAN1	10103	broad.mit.edu	37	1	46650977	46650977	+	Silent	SNP	C	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:46650977C>A	uc001cpd.3	+	7	1149	c.675C>A	c.(673-675)ctC>ctA	p.L225L		NM_005727	NP_005718	O60635	TSN1_HUMAN	Homo sapiens tetraspanin 1 (TSPAN1), mRNA.	225						integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TTGGGGGCCTCGAGGTAAGCA	0.542000														107			74		3.66258e-25	5.78001e-25	0.014410	1	0
USH2A	7399	broad.mit.edu	37	1	216173824	216173824	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:216173824G>A	uc001hku.1	-	32	6793	c.6406C>T	c.(6406-6408)Ctg>Ttg	p.L2136L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2136	Fibronectin type-III 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGTGTACAGTAGGACCCAG	0.458000										HNSCC(13;0.011)				23			44		0	0	0.013114	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					45			43		0	0	0.013114	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414116	19414116	+	RNA	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr13:19414116C>T	uc010tcj.1	-	0		c.31994G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGATTTACCTGATTTGGA	0.269000														13			4		0	0	0.009096	0	0
SORL1	6653	broad.mit.edu	37	11	121414407	121414407	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:121414407C>T	uc001pxx.3	+	12	1965	c.1836C>T	c.(1834-1836)atC>atT	p.I612I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	612					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCTGGCTGATCCTCCAGGTCA	0.522000														17			43		0	0	0.011902	0	0
TRRAP	8295	broad.mit.edu	37	7	98530997	98530997	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:98530997T>G	uc003upp.3	+	26	4195	c.3986T>G	c.(3985-3987)gTg>gGg	p.V1329G	TRRAP_uc011kis.2_Missense_Mutation_p.V1329G|TRRAP_uc003upr.3_Missense_Mutation_p.V1021G	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1329					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GACCTTAACGTGGTGGAGCAT	0.567000														56			39		0	0	0.014410	0	0
ARAP2	116984	broad.mit.edu	37	4	36152536	36152536	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:36152536G>A	uc003gsq.2	-	15	3221	c.2883C>T	c.(2881-2883)ttC>ttT	p.F961F		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	961	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TATTTAAATAGAAGTCCTCTT	0.333000														149			9		0	0	0.008291	0	0
RPH3AL	9501	broad.mit.edu	37	17	169211	169211	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:169211C>T	uc002fre.2	-	5	694	c.351_splice	c.e5+1	p.K117_splice	RPH3AL_uc010vpy.2_Splice_Site_p.K117_splice|RPH3AL_uc021tmx.1_Splice_Site_p.K117_splice|RPH3AL_uc002frf.2_Splice_Site_p.K117_splice|RPH3AL_uc010cjl.2_Splice_Site_p.K117_splice	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	117	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		AGGGTCTTACCTTCCTGCAGT	0.627000														12			6		0	0	0.001984	0	0
LPCAT1	79888	broad.mit.edu	37	5	1501585	1501585	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:1501585A>C	uc003jcm.3	-	1	386	c.269T>G	c.(268-270)cTg>cGg	p.L90R		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	90					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CTTCCTCCACAGGGCCGGGGG	0.662000														13			9		0	0	0.004482	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717724	2717724	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:2717724G>A	uc002lwf.3	-	1	239	c.81C>T	c.(79-81)ttC>ttT	p.F27F	DIRAS1_uc021umt.1_Silent_p.F27F	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	27					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TGCCCTTCACGAAGCGCAGCA	0.652000														22			21		0	0	0.016522	0	0
INPP4A	3631	broad.mit.edu	37	2	99156091	99156091	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:99156091C>T	uc002syy.3	+	9	1164	c.771C>T	c.(769-771)caC>caT	p.H257H	INPP4A_uc010yvj.1_Silent_p.H257H|INPP4A_uc010yvk.2_Silent_p.H257H|INPP4A_uc002syx.3_Silent_p.H257H|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	257					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TCTCCCTGCACGTGCCCCGGC	0.572000														34			14		0	0	0.024245	0	0
C3orf15	89876	broad.mit.edu	37	3	119466103	119466103	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:119466103G>A	uc003ede.4	+	14	2121	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	C3orf15_uc010hqz.3_Missense_Mutation_p.E620K|C3orf15_uc011bjd.2_Missense_Mutation_p.E556K|C3orf15_uc011bje.2_Missense_Mutation_p.E662K|C3orf15_uc003edg.4_5'Flank	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	518						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		TTATGAAATGGAAAGCCGGTG	0.388000														25			17		0	0	0.006122	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193805	193805	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:193805T>C	uc001loa.1	+	1	169	c.149T>C	c.(148-150)tTg>tCg	p.L50S	ODF3_uc001lob.3_5'Flank|ODF3_uc010qvk.2_5'Flank|ODF3_uc001loc.3_5'Flank	NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA.	50						extracellular region	binding	p.T49I(1)		endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGGGACCTTGGGCAAGTAC	0.537000														43			14		0	0	0.004990	0	0
NSL1	25936	broad.mit.edu	37	1	212911991	212911991	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:212911991G>A	uc001hjn.3	-	5	639	c.605C>T	c.(604-606)tCc>tTc	p.S202F	NSL1_uc001hjm.3_3'UTR|NSL1_uc010pti.2_Missense_Mutation_p.S161F	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.	202					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GAGAACTTGGGAAAATCCCTC	0.398000														60			20		0	0	0.014323	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339002	13339002	+	RNA	SNP	T	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:13339002T>A	uc003gms.3	+	0		c.3966T>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						CCAAGAGGAGTATGGAGAATT	0.408000														19			20		0	0	0.010504	0	0
ATP2B2	491	broad.mit.edu	37	3	10401650	10401650	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:10401650C>T	uc003bvt.3	-	12	2256	c.1817G>A	c.(1816-1818)cGc>cAc	p.R606H	ATP2B2_uc003bvv.3_Missense_Mutation_p.R561H|ATP2B2_uc003bvw.3_Missense_Mutation_p.R561H|ATP2B2_uc010hdo.3_Missense_Mutation_p.R311H	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	606					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.R606R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATGGACTTGCGCACGGAGTT	0.577000														32			21		0	0	0.018920	0	0
ITGAE	3682	broad.mit.edu	37	17	3661060	3661060	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:3661060G>A	uc002fwo.4	-	8	1059	c.960C>T	c.(958-960)ctC>ctT	p.L320L		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	320	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCGTAAGGTTGAGGGGGTCCT	0.562000														157			80		0	0	0.014410	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181888	81181888	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:81181888G>A	uc002bfw.1	+	8	1301	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*	KIAA1199_uc010unn.1_Nonsense_Mutation_p.W347*	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	347										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGACCTCTGGAAAGCTCACC	0.413000														33			26		0	0	0.006320	0	0
REM2	161253	broad.mit.edu	37	14	23354167	23354167	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr14:23354167C>T	uc001whf.1	+	1	453	c.388C>T	c.(388-390)Cta>Tta	p.L130L	REM2_uc010tnd.1_Silent_p.L122L	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	130					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		CAAGAGCACCCTAGCAGGCAC	0.622000														36			25		0	0	0.021523	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767738	77767738	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:77767738G>A	uc003yau.2	+	9	8968	c.8581G>A	c.(8581-8583)Gat>Aat	p.D2861N	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2816N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2816						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAGGTCTGCGATGACAAATT	0.478000										HNSCC(33;0.089)				24			13		0	0	0.013537	0	0
ZNF490	57474	broad.mit.edu	37	19	12691555	12691555	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:12691555G>A	uc002mtz.2	-	4	1463	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						GCATTCATAGGGTTTCTCTCT	0.428000														56			29		0	0	0.015359	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206325	160206325	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:160206325G>A	uc002uao.3	-	27	5162	c.4757C>T	c.(4756-4758)cCt>cTt	p.P1586L	BAZ2B_uc002uap.3_Missense_Mutation_p.P1550L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTGAGACTGAGGAGTCACCAA	0.448000														37			25		0	0	0.024334	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188894	11188894	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:11188894C>T	uc003wtp.1	+	0	400	c.279C>T	c.(277-279)ccC>ccT	p.P93P		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	93	DUF6 1.					integral to membrane											GTGGCGACCCCCTTCTGGGAC	0.602000														165			83		0	0	0.014410	0	0
PLA2R1	22925	broad.mit.edu	37	2	160879191	160879191	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:160879191T>C	uc002ube.2	-	6	1491	c.1279A>G	c.(1279-1281)Acc>Gcc	p.T427A	PLA2R1_uc010zcp.2_Missense_Mutation_p.T427A|PLA2R1_uc002ubf.3_Missense_Mutation_p.T427A	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	427	C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCAAGGAGGGTTACAAGAAAC	0.393000														37			36		0	0	0.021022	0	0
OR6A2	8590	broad.mit.edu	37	11	6816561	6816561	+	Missense_Mutation	SNP	G	A	A	rs151066337		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:6816561G>A	uc001mes.1	-	0	579	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R127C(6)|p.R127H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCATATAGCGATCATAGGCC	0.527000														6			19		0	0	0.010504	0	0
ISLR	3671	broad.mit.edu	37	15	74467597	74467597	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:74467597A>G	uc002axg.1	+	1	680	c.398A>G	c.(397-399)gAg>gGg	p.E133G	ISLR_uc002axh.1_Missense_Mutation_p.E133G|ISLR_uc021sqf.1_Missense_Mutation_p.E133G	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	133					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GACAGCAACGAGCTGACCTTC	0.597000														34			10		0	0	0.016723	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543152	133543152	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:133543152C>T	uc002ttp.3	-	13	1606	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	411							protein binding	p.R411*(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAACACTTTTCGCTTCTGTAG	0.413000														47			26		0	0	0.007291	0	0
KRT28	162605	broad.mit.edu	37	17	38953273	38953273	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:38953273C>T	uc002hvh.1	-	4	939	c.873G>A	c.(871-873)caG>caA	p.Q291Q		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	291	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGTGGGAGATCTGTTGCTGCA	0.667000														43			22		0	0	0.021523	0	0
RFNG	5986	broad.mit.edu	37	17	80007607	80007607	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:80007607G>A	uc002kdj.3	-	5	782	c.774C>T	c.(772-774)ttC>ttT	p.F258F	RFNG_uc002kdh.3_Silent_p.F43F|RFNG_uc021ufl.1_Silent_p.F33F|GPS1_uc002kdk.1_5'Flank|GPS1_uc002kdl.1_5'Flank|GPS1_uc010dij.1_5'Flank|GPS1_uc002kdm.1_5'Flank|GPS1_uc002kdn.1_5'Flank|GPS1_uc010wvh.1_5'Flank	NM_002917	NP_002908	Q9Y644	RFNG_HUMAN	Homo sapiens RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (RFNG), mRNA.	258					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGTGAGAGTGGAAGAGGGGGC	0.672000														4			7		0	0	0.001984	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000														7			3		0	0	0.009096	0	0
COL9A3	1299	broad.mit.edu	37	20	61458603	61458603	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:61458603G>A	uc002ydm.3	+	15	806	c.803G>A	c.(802-804)gGc>gAc	p.G268D		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	268	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGTGACCGAGGCGAGAGGGGC	0.632000														47			41		0	0	0.014410	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319907	21319907	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:21319907G>A	uc021tss.1	+	2	1623	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	KCNJ18_uc002gyv.1_Missense_Mutation_p.G418D|KCNJ18_uc021tst.1_Missense_Mutation_p.G418D	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	418						integral to membrane	inward rectifier potassium channel activity										CTCCAGGCTGGCGGCGGGGTC	0.692000														30			6		0	0	0.003080	0	0
MYO1F	4542	broad.mit.edu	37	19	8590433	8590433	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:8590433C>T	uc002mkg.3	-	24	2922	c.2784G>A	c.(2782-2784)aaG>aaA	p.K928K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	928						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGCCATTCCCTTCCGCGTAG	0.612000														29			13		0	0	0.020292	0	0
ROR2	4920	broad.mit.edu	37	9	94493196	94493196	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:94493196C>T	uc004arj.2	-	6	1378	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	ROR2_uc004ari.1_Silent_p.S253S|ROR2_uc004ark.3_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	393	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACATACTACACGAGGGTACGT	0.532000														14			20		0	0	0.016522	0	0
FOXS1	2307	broad.mit.edu	37	20	30432534	30432534	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:30432534G>A	uc002wwt.1	-	0	887	c.812C>T	c.(811-813)tCa>tTa	p.S271L		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	271					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GGGGGCTGCTGAGGCCAAGAG	0.647000														14			28		0	0	0.009535	0	0
CD97	976	broad.mit.edu	37	19	14512267	14512267	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:14512267C>T	uc002myl.3	+	9	1347	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	CD97_uc002mym.3_Missense_Mutation_p.R274W|CD97_uc002myn.3_Missense_Mutation_p.R230W	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	323					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCACCTGTCCGGCACCTCAT	0.557000														24			16		0	0	0.024245	0	0
KIF2B	84643	broad.mit.edu	37	17	51901748	51901748	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:51901748G>A	uc002iua.2	+	0	1510	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	452	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCTGGGAATGAAAGAGGAGC	0.488000														44			15		0	0	0.020292	0	0
MTR	4548	broad.mit.edu	37	1	237057660	237057660	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:237057660G>C	uc001hyi.4	+	29	3631	c.3208G>C	c.(3208-3210)Gag>Cag	p.E1070Q	MTR_uc010pxw.2_Missense_Mutation_p.E663Q|MTR_uc010pxx.2_Missense_Mutation_p.E1019Q|MTR_uc010pxy.2_Missense_Mutation_p.E924Q	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	1070	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTTTAAGGCTGAGAAGGACTC	0.557000														93			9		0	0	0.008291	0	0
EPHA6	285220	broad.mit.edu	37	3	96962974	96962974	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:96962974C>T	uc010how.1	+	4	1492	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	EPHA6_uc003drp.1_Silent_p.I483I	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	388	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCGCTTCATCCCAAGACATA	0.443000														24			12		0	0	0.020292	0	0
PARP10	84875	broad.mit.edu	37	8	145059797	145059797	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:145059797C>T	uc003zal.4	-	3	564	c.456G>A	c.(454-456)gaG>gaA	p.E152E	PARP10_uc003zak.4_5'Flank|PARP10_uc011lku.2_Silent_p.E164E|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Silent_p.E152E|PARP10_uc010mfn.1_Silent_p.E67E|PARP10_uc010mfo.1_Missense_Mutation_p.S45N	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	152						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGGCCTGCTCCTCCAGGA	0.667000														74			36		0	0	0.021022	0	0
HRC	3270	broad.mit.edu	37	19	49657030	49657031	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:49657030_49657031CC>TT	uc002pmv.3	-	0	1651_1652	c.1464_1465GG>AA	c.(1462-1467)aaggaa>aaAAaa	p.E489K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	489					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGGTCCTCTTCCTTCTCCTTTT	0.540000														52			36		0	0	0.004672	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004593	75004593	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrX:75004593G>A	uc004ecj.2	-	0	487	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	98	MAGE 1.							p.F98F(2)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCATTCTCATGAAATTCACCA	0.532000														13			21		0	0	0.010504	0	0
CDHR2	54825	broad.mit.edu	37	5	176016346	176016346	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:176016346C>T	uc021yie.1	+	22	3298	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	CDHR2_uc003mem.2_Silent_p.L1008L|CDHR2_uc003men.1_Silent_p.L1008L	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1008	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGACCAGCCTCGACTCCACTC	0.607000														15			41		0	0	0.014410	0	0
FZR1	51343	broad.mit.edu	37	19	3526174	3526174	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:3526174C>A	uc010dtk.2	+	2	286	c.252C>A	c.(250-252)aaC>aaA	p.N84K	FZR1_uc002lxt.2_Missense_Mutation_p.N84K|FZR1_uc002lxv.2_Missense_Mutation_p.N84K	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	84					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCAGACAACGGCAAAGGTT	0.652000														30			13		9.31168e-06	1.42497e-05	0.016723	1	0
CYP4Z1	199974	broad.mit.edu	37	1	47571922	47571922	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:47571922C>T	uc001cqu.1	+	8	1193	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	397						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GATGGACGCTCCTTACCTGCA	0.413000														42			31		0	0	0.013726	0	0
PCLO	27445	broad.mit.edu	37	7	82595557	82595557	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:82595557C>T	uc003uhx.2	-	3	3836	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K	PCLO_uc003uhv.2_Missense_Mutation_p.E1183K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1122					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAATTTTTTCCATTGATAGT	0.363000														64			81		0	0	0.014410	0	0
TUBE1	51175	broad.mit.edu	37	6	112397659	112397659	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:112397659G>A	uc003pvq.3	-	6	616	c.502C>T	c.(502-504)Cca>Tca	p.P168S		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	168					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TATACTTCTGGGAATTCGTCT	0.353000														10			14		0	0	0.004990	0	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128848999	128848999	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:128848999C>T	uc003elo.2	-	10	1038	c.783G>A	c.(781-783)atG>atA	p.M261I	ISY1-RAB43_uc010hsz.2_Missense_Mutation_p.M81I|ISY1-RAB43_uc010hta.2_Missense_Mutation_p.M283I|ISY1-RAB43_uc003elp.2_Missense_Mutation_p.M261I	NM_001204890	NP_001191819	Q9ULR0	ISY1_HUMAN	Homo sapiens ISY1-RAB43 readthrough (ISY1-RAB43), mRNA.	261						catalytic step 2 spliceosome											GGAGGAGTTCCATTTTCTTCC	0.567000														59			34		0	0	0.021022	0	0
WDR65	149465	broad.mit.edu	37	1	43649316	43649316	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:43649316T>C	uc021omk.1	+	3	675	c.529T>C	c.(529-531)Ttt>Ctt	p.F177L	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.F166L|WDR65_uc001ciq.2_Missense_Mutation_p.F177L|WDR65_uc001cip.2_Missense_Mutation_p.F177L	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	177										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)				AAATGGGATGTTTAAGCTTCT	0.438000														44			23		0	0	0.014323	0	0
C1orf94	84970	broad.mit.edu	37	1	34677944	34677944	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:34677944A>G	uc001bxt.3	+	5	2496	c.1658A>G	c.(1657-1659)aAc>aGc	p.N553S	C1orf94_uc001bxs.4_Missense_Mutation_p.N363S	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	363							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ATGTCTGCCAACCCCCGAGAC	0.562000														25			16		0	0	0.028581	0	0
TPTE	7179	broad.mit.edu	37	21	10998311	10998311	+	RNA	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr21:10998311C>T	uc002yis.1	-	10		c.1942G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTCTGATTTTCCATCACAATC	0.363000														77			13		0	0	0.016723	0	0
GDF3	9573	broad.mit.edu	37	12	7842749	7842749	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:7842749G>A	uc001qte.3	-	1	856	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	274			R -> W (in MCOPCB6).		eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.R274Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCAGGTCCCGGAAGTTAATG	0.527000														45			18		0	0	0.004990	0	0
DNAAF3	352909	broad.mit.edu	37	19	55671284	55671284	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:55671284G>A	uc002qjl.1	-	9	1349	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	TNNI3_uc002qjg.4_5'Flank|TNNI3_uc010yft.2_5'Flank|DNAAF3_uc002qjh.1_Silent_p.L197L|DNAAF3_uc002qji.1_Silent_p.L382L|DNAAF3_uc002qjj.1_Silent_p.L429L|DNAAF3_uc002qjk.1_Silent_p.L328L	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	382																	CCACATAGAGGAGCTGGAATC	0.632000														55			29		0	0	0.017118	0	0
FAM82A1	151393	broad.mit.edu	37	2	38178549	38178549	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:38178549T>C	uc002rqn.2	+	1	317	c.191T>C	c.(190-192)tTa>tCa	p.L64S	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						AGTAGAAGGTTATTATCTGTA	0.358000														36			19		0	0	0.006122	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297737	139297737	+	Nonsense_Mutation	SNP	C	T	T	rs114467064	by1000genomes	TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:139297737C>T	uc003etj.3	-	1	310	c.270G>A	c.(268-270)tgG>tgA	p.W90*	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Nonsense_Mutation_p.W53*|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	90					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CTGTCTCCATCCACTGTGCCT	0.592000														31			17		0	0	0.010504	0	0
FAM170A	340069	broad.mit.edu	37	5	118970290	118970290	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:118970290G>A	uc003ksm.2	+	2	1057	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.E283K|FAM170A_uc003kso.3_Missense_Mutation_p.E236K	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	283	Glu-rich.					intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						gcaggaggaggaaaatggaaa	0.542000														16			51		0	0	0.014410	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960475	51960475	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:51960475C>T	uc002pwt.3	-	2	811	c.744G>A	c.(742-744)tgG>tgA	p.W248*	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.W155*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	248	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGTCAAGTTCCAAGGAGGGT	0.562000														45			43		0	0	0.013114	0	0
PROX1	5629	broad.mit.edu	37	1	214170487	214170487	+	Silent	SNP	T	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:214170487T>C	uc001hkh.3	+	1	881	c.609T>C	c.(607-609)agT>agC	p.S203S	PROX1_uc001hkg.1_Silent_p.S203S	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	203					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 S phase of mitotic cell cycle|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 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)		CCCGAGAAAGTTACAGAGAAA	0.507000														32			54		0	0	0.014410	0	0
TRPM1	4308	broad.mit.edu	37	15	31341666	31341666	+	Missense_Mutation	SNP	C	A	A	rs148802607	by1000genomes	TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:31341666C>A	uc021sia.1	-	11	1849	c.1535G>T	c.(1534-1536)cGt>cTt	p.R512L	TRPM1_uc010azy.3_Missense_Mutation_p.R380L|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R495L|TRPM1_uc001zfm.3_Missense_Mutation_p.R473L	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	473					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AAAGTCGACACGATCTAAGAC	0.512000														65			29		1.55811e-20	2.44933e-20	0.008361	1	0
SLIT3	6586	broad.mit.edu	37	5	168114078	168114078	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:168114078C>T	uc010jjg.3	-	29	3661	c.3241G>A	c.(3241-3243)Gac>Aac	p.D1081N	SLIT3_uc003mab.3_Missense_Mutation_p.D1074N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1074	EGF-like 5.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCATTGTCTGTCTCACAG	0.597000														9			19		0	0	0.012319	0	0
POM121L12	285877	broad.mit.edu	37	7	53103724	53103724	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:53103724G>A	uc003tpz.3	+	0	376	c.360G>A	c.(358-360)atG>atA	p.M120I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	120										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGGTTGCATGAAAGGGGGGC	0.706000														43			19		0	0	0.010504	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884669	228884669	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:228884669G>A	uc002vpq.2	-	6	948	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P301S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P301S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	301						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGCTGAGGGATCTAGACTC	0.403000														118			75		0	0	0.014410	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907017	164907017	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:164907017C>T	uc003fej.4	-	1	2046	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	SLITRK3_uc003fek.3_Silent_p.L534L|SLITRK3_uc021xgy.1_Silent_p.L534L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	534						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGTTCTTCCTCAGGTTGAGCC	0.512000										HNSCC(40;0.11)				36			20		0	0	0.008871	0	0
FAT4	79633	broad.mit.edu	37	4	126337775	126337775	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:126337775C>T	uc003ifj.4	+	5	7016	c.7016C>T	c.(7015-7017)tCa>tTa	p.S2339L	FAT4_uc011cgp.2_Missense_Mutation_p.S637L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2339	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTACAGATTCAGGTAAGTCC	0.463000														56			27		0	0	0.007291	0	0
AMFR	267	broad.mit.edu	37	16	56448189	56448189	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:56448189C>G	uc002eiy.3	-	1	528	c.323G>C	c.(322-324)gGc>gCc	p.G108A		NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	108					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCGAAGAGGGCCAAACACAAT	0.368000														83			41		0	0	0.014410	0	0
LZTS2	84445	broad.mit.edu	37	10	102766875	102766875	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr10:102766875G>A	uc001ksj.3	+	4	2130	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	LZTS2_uc010qpw.2_Missense_Mutation_p.E654K|LZTS2_uc001ksk.3_Missense_Mutation_p.E654K|LZTS2_uc001ksl.3_Missense_Mutation_p.E654K|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	654	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGCCTGGCCGAGCAGGCCCC	0.652000														11			27		0	0	0.017118	0	0
NOL6	65083	broad.mit.edu	37	9	33468039	33468039	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:33468039G>A	uc003zsz.3	-	10	1514	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Silent_p.D471D|NOL6_uc010mjv.3_Silent_p.D468D|NOL6_uc011lob.2_Silent_p.D419D|NOL6_uc003ztb.1_Silent_p.D471D	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	471					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GCAGGACATGGTCAAAAGCCC	0.562000														28			83		0	0	0.014410	0	0
CIDEA	1149	broad.mit.edu	37	18	12274218	12274218	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr18:12274218G>A	uc002kqt.4	+	3	522	c.457G>A	c.(457-459)Gag>Aag	p.E153K	CIDEA_uc002kqu.4_Missense_Mutation_p.E187K|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	153					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CACCATGTATGAGATGTACTC	0.587000														15			31		0	0	0.019004	0	0
LILRA1	11024	broad.mit.edu	37	19	55085550	55085550	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:55085550T>G	uc010ern.3	+	2	511	c.42T>G	c.(40-42)agT>agG	p.S14R	LILRA1_uc002qgg.4_Missense_Mutation_p.S14R|LILRA1_uc002qgf.3_Missense_Mutation_p.S14R|LILRA1_uc010yfe.1_Missense_Mutation_p.S14R|LILRA1_uc010yff.1_Intron|LILRA1_uc010ero.3_Intron|LILRA1_uc010yfg.1_Missense_Mutation_p.S14R			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	14					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGGGCTGAGTCTGGGCCCCA	0.642000														61			29		0	0	0.013726	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199392	71199392	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr14:71199392G>A	uc001xmm.3	-	10	2694	c.2694C>T	c.(2692-2694)ccC>ccT	p.P898P	MAP3K9_uc010ttk.2_Silent_p.P626P|MAP3K9_uc001xmk.3_Silent_p.P631P|MAP3K9_uc001xml.3_Silent_p.P912P	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	898	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.R898L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGACATGGGTGGGAGTCAGAG	0.617000														99			55		0	0	0.014410	0	0
OR6C3	254786	broad.mit.edu	37	12	55726419	55726419	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:55726419G>A	uc010spj.2	+	1	936	c.936_splice	c.e1+1	p.*312_splice		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCAAATCAATGAATTTTTGGT	0.338000														15			12		0	0	0.013537	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94917897	94917897	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:94917897C>T	uc003unp.3	+	14	3233	c.2951C>T	c.(2950-2952)gCc>gTc	p.A984V	PPP1R9A_uc010lfj.3_Missense_Mutation_p.A1260V|PPP1R9A_uc011kif.2_Missense_Mutation_p.A1182V|PPP1R9A_uc003unq.3_Intron|PPP1R9A_uc011kig.2_Missense_Mutation_p.A976V|PPP1R9A_uc003unr.3_Missense_Mutation_p.A273V	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	984	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGAATCGGGCCGTTCAGGAA	0.443000										HNSCC(28;0.073)				57			27		0	0	0.013726	0	0
SSTR5	6755	broad.mit.edu	37	16	1129787	1129787	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:1129787C>T	uc021taf.1	+	1	990	c.919C>T	c.(919-921)Ctc>Ttc	p.L307F	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.L307F	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	307					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CTACGGCTTCCTCTCTGACAA	0.647000														16			8		0	0	0.003080	0	0
ZNF135	7694	broad.mit.edu	37	19	58579100	58579100	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:58579100G>A	uc002qrg.3	+	3	1323	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	ZNF135_uc002qre.3_Silent_p.G416G|ZNF135_uc002qrf.3_Silent_p.G374G|ZNF135_uc010yhq.2_Silent_p.G428G|ZNF135_uc010yhr.2_Silent_p.G237G|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	428					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTGAGTGTGGGAAAGCCTTCA	0.532000														18			12		0	0	0.010729	0	0
OR6C1	390321	broad.mit.edu	37	12	55715176	55715176	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:55715176A>G	uc010spi.2	+	0	793	c.793A>G	c.(793-795)Aga>Gga	p.R265G		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D264D(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGCAAAAGATAGAGTGTCCTT	0.443000														52			35		0	0	0.013726	0	0
GPAT2	150763	broad.mit.edu	37	2	96687993	96687993	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:96687993G>A	uc002svf.3	-	21	2525	c.2302C>T	c.(2302-2304)Ccc>Tcc	p.P768S	LOC729234_uc010fht.3_Intron|GPAT2_uc002sve.3_Missense_Mutation_p.P570S|GPAT2_uc002svd.3_Missense_Mutation_p.P587S|GPAT2_uc002svg.3_Missense_Mutation_p.P647S|GPAT2_uc010yuh.2_Missense_Mutation_p.P697S|GPAT2_uc002svh.3_3'UTR	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	768					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGGAGCCTGGGGCCTGCAGGG	0.577000														4			7		0	0	0.006214	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964650	119964650	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:119964650G>A	uc001ehs.3	+	2	1299	c.526G>A	c.(526-528)Ggt>Agt	p.G176S	HSD3B2_uc021ost.1_Missense_Mutation_p.G176S|HSD3B2_uc001eht.3_Missense_Mutation_p.G176S|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	176					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TCTAAAAAATGGTGATACCTT	0.478000														44			38		0	0	0.023175	0	0
SCN1A	6323	broad.mit.edu	37	2	166900468	166900468	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:166900468C>T	uc002udo.4	-	12	1981	c.1754G>A	c.(1753-1755)gGa>gAa	p.G585E	SCN1A_uc010fpk.3_Missense_Mutation_p.G585E|SCN1A_uc021vsb.1_Missense_Mutation_p.G585E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	585						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCTCAGATCCCACATCCTT	0.502000														46			32		0	0	0.017118	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815059	106815059	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:106815059G>A	uc003ymd.3	+	7	2772	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E648K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	917					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.E917Q(2)|p.E917E(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AATAAAATGTGAGAAAAATGG	0.458000														13			11		0	0	0.010729	0	0
ZNF626	199777	broad.mit.edu	37	19	20829089	20829089	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:20829089G>A	uc002npb.1	-	1	276	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Silent_p.F42F	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CCTCACCAAGGAAGACCAGGT	0.343000														33			33		0	0	0.019004	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114355	66114355	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:66114355T>C	uc001ohr.3	-	0	807	c.662A>G	c.(661-663)aAc>aGc	p.N221S	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank|TRNA_Ser_uc021qlw.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1), mRNA.	221					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	p.A220T(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CAGGGCATAGTTGGCCCCCTC	0.612000														22			33		0	0	0.017118	0	0
ELOVL6	79071	broad.mit.edu	37	4	111026722	111026722	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:111026722A>C	uc003hzz.3	-	2	278	c.152T>G	c.(151-153)aTg>aGg	p.M51R	ELOVL6_uc003iaa.3_Missense_Mutation_p.M51R	NM_001130721	NP_076995	Q9H5J4	ELOV6_HUMAN	Homo sapiens ELOVL fatty acid elongase 6 (ELOVL6), transcript variant 2, mRNA.	51					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TCGTTTATTCATTAGGTGCCG	0.378000														28			21		0	0	0.008871	0	0
LILRA1	11024	broad.mit.edu	37	19	55106156	55106156	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:55106156G>A	uc002qgh.1	+	3	279	c.97G>A	c.(97-99)Gct>Act	p.A33T	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.A33T	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	33	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.W32C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CACACTCTGGGCTGAGCCAGG	0.557000														44			35		0	0	0.019004	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														42			5		0	0	0.014758	0	0
ZNF500	26048	broad.mit.edu	37	16	4812275	4812275	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:4812275G>A	uc002cxp.1	-	3	907	c.660C>T	c.(658-660)tcC>tcT	p.S220S	ZNF500_uc002cxo.1_Silent_p.S12S|ZNF500_uc010uxt.1_Silent_p.S220S	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	220					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CACTCACCTGGGACCAGGCCG	0.637000														8			4		0	0	0.009096	0	0
TNFSF15	9966	broad.mit.edu	37	9	117554715	117554715	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:117554715G>T	uc004bjh.3	-	2	389	c.273C>A	c.(271-273)gaC>gaA	p.D91E	TNFSF15_uc004bjg.3_Missense_Mutation_p.D32E	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	91					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GCTTATCTCCGTCTGCTCTAA	0.488000														5			26		9.65021e-13	1.49375e-12	0.010818	1	0
INO80	54617	broad.mit.edu	37	15	41340455	41340455	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:41340455G>A	uc001zni.3	-	21	2809	c.2596C>T	c.(2596-2598)Cca>Tca	p.P866S	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	866	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGTGCAAATGGAGAAAGAACC	0.388000														78			46		0	0	0.014410	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:106820975C>T	uc001tlp.3	+	13	1324	c.1102_splice	c.e13-1	p.L368_splice	POLR3B_uc001tlq.3_Splice_Site_p.L310_splice	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000														7			5		0	0	0.014758	0	0
BRD8	10902	broad.mit.edu	37	5	137500715	137500715	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:137500715G>A	uc003lcf.1	-	11	1474	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	BRD8_uc011cyl.2_Silent_p.L252L|BRD8_uc021yea.1_Silent_p.L363L|BRD8_uc003lcg.3_Silent_p.L546L|BRD8_uc003lci.3_Silent_p.L476L|BRD8_uc011cym.2_Silent_p.L457L|BRD8_uc011cyn.1_Silent_p.L432L	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	473					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGGTGCAGGGAGAGGTACTG	0.527000														21			36		0	0	0.023175	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:108672495C>T	uc003dxj.2	-	0	183	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_uc003dxk.2_Missense_Mutation_p.E39K	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000														86			50		0	0	0.014410	0	0
RASGRF1	5923	broad.mit.edu	37	15	79356834	79356834	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:79356834T>G	uc002beq.3	-	1	686	c.311A>C	c.(310-312)cAg>cCg	p.Q104P	RASGRF1_uc002bep.3_Missense_Mutation_p.Q104P|RASGRF1_uc010blm.1_Missense_Mutation_p.Q26P|RASGRF1_uc002ber.4_Missense_Mutation_p.Q104P	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	104	PH 1.				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						CAAGGCTTTCTGGTTCTCATG	0.502000														99			65		0	0	0.014410	0	0
MARCH10	162333	broad.mit.edu	37	17	60813510	60813510	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:60813510C>T	uc010dds.3	-	6	2118	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	MARCH10_uc010ddr.3_Silent_p.V573V|MARCH10_uc002jag.4_Silent_p.V573V|MARCH10_uc002jah.2_Silent_p.V572V|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	573							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TGGAAGAATCCACTAAGGACA	0.443000														74			61		0	0	0.014410	0	0
CNDP2	55748	broad.mit.edu	37	18	72180891	72180891	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr18:72180891C>T	uc002llm.2	+	7	1099	c.840C>T	c.(838-840)atC>atT	p.I280I	CNDP2_uc002lln.2_Silent_p.I196I	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	280						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ACGACGACATCGACTTTGACA	0.602000														25			32		0	0	0.017118	0	0
HSPG2	3339	broad.mit.edu	37	1	22202148	22202148	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:22202148G>A	uc009vqd.3	-	24	3319	c.3279C>T	c.(3277-3279)tcC>tcT	p.S1093S	HSPG2_uc001bfj.3_Silent_p.S1092S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1092	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGGGCGTAGGATGCTCGGA	0.662000														50			46		0	0	0.014410	0	0
RBCK1	10616	broad.mit.edu	37	20	409647	409647	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:409647T>C	uc002wdp.4	+	10	2054	c.1361T>C	c.(1360-1362)gTa>gCa	p.V454A	RBCK1_uc002wdq.4_Missense_Mutation_p.V412A|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Missense_Mutation_p.V284A	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	454					T cell receptor signaling pathway|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAGATCGTGGTACAGAAGAAG	0.687000														30			7		0	0	0.004482	0	0
CDK11B	984	broad.mit.edu	37	1	1635335	1635335	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:1635335G>A	uc009vks.3	-	16	1947	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_Silent_p.F120F|CDK11B_uc009vkp.3_Silent_p.F230F|CDK11B_uc009vkq.3_Non-coding_Transcript|CDK11B_uc009vkr.3_Silent_p.F603F	NM_024011	NP_076916	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.	628	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GCAGCTCCCCGAAGATGCAGC	0.597000														26			16		0	0	0.007413	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31525611	31525611	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:31525611A>G	uc003nub.3	+	2	660	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	NFKBIL1_uc011dnr.2_Intron|NFKBIL1_uc011dns.2_Missense_Mutation_p.M158V|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Intron	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	181					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GCAGGAAGTCATGGGGAGGTT	0.562000														34			14		0	0	0.020292	0	0
SPEF2	79925	broad.mit.edu	37	5	35771819	35771819	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:35771819G>A	uc003jjo.3	+	26	4021	c.3910G>A	c.(3910-3912)Gag>Aag	p.E1304K	SPEF2_uc003jjp.1_Missense_Mutation_p.E790K|SPEF2_uc003jjr.3_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1304					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.E1304*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTCAAAAAGGAGCCACCCAA	0.403000														28			16		0	0	0.028581	0	0
FBXL20	84961	broad.mit.edu	37	17	37420601	37420601	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:37420601G>A	uc002hrt.3	-	13	1284	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	FBXL20_uc010cvu.3_Missense_Mutation_p.R312C	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	344						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CCCAGGTGACGAATTCCATCA	0.517000														43			26		0	0	0.006320	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566269	155566269	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:155566269G>A	uc002tyv.1	+	1	1052	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Missense_Mutation_p.R286Q	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	286					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTATCCCAGCGAAGCATGCAA	0.433000														36			16		0	0	0.006122	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:100235037C>T	uc003hus.4	-	5	853	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_uc003hut.4_Missense_Mutation_p.E217K|ADH1B_uc011ceh.2_Missense_Mutation_p.E102K|ADH1B_uc011cei.1_Missense_Mutation_p.E217K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000														184			103		0	0	0.014410	0	0
OR2F1	26211	broad.mit.edu	37	7	143657151	143657151	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:143657151C>T	uc003wds.1	+	0	132	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCTGTTTGTCCTGTTCTTGGT	0.483000														108			131		0	0	0.014410	0	0
CNTN4	152330	broad.mit.edu	37	3	3067886	3067886	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:3067886C>T	uc003bpc.3	+	14	1926	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	CNTN4_uc003bpb.1_Silent_p.I201I|CNTN4_uc021wsg.1_Silent_p.I529I|CNTN4_uc003bpd.1_Silent_p.I529I|CNTN4_uc003bpe.3_Silent_p.I201I|CNTN4_uc003bpf.3_Silent_p.I201I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	529	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGCTAGACATCGTGTTTACTT	0.438000														32			17		0	0	0.004990	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324196	136324196	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:136324196G>A	uc003lbo.3	-	6	1034	c.843C>T	c.(841-843)atC>atT	p.I281I	SPOCK1_uc003lbp.3_Silent_p.I281I	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	281					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAGAGGCTTGATACAGGGCT	0.493000														28			55		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9056776	9056776	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:9056776G>A	uc002mkp.3	-	2	30874	c.30670C>T	c.(30670-30672)Cca>Tca	p.P10224S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10226	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCACTGGAATTTCAGTA	0.458000														35			16		0	0	0.028581	0	0
ELANE	1991	broad.mit.edu	37	19	855692	855692	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:855692C>T	uc002lqb.3	+	3	533	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	165	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	p.G164G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	ACCGTGGGATCGCCAGCGTCC	0.701000														63			28		0	0	0.006320	0	0
CYP4F3	4051	broad.mit.edu	37	19	15758007	15758007	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:15758007G>A	uc010xok.2	+	5	448	c.398_splice	c.e5-1	p.G133_splice	CYP4F3_uc010xol.2_Splice_Site_p.G133_splice|CYP4F3_uc002nbj.3_Splice_Site_p.G133_splice|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Splice_Site_p.G133_splice|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	133					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCCCTGCCAGGGGATGGGCTC	0.602000														34			21		0	0	0.012319	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489495	20489495	+	Splice_Site	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:20489495G>A	uc001ytf.1	+	3		c.483_splice	c.e3+1							Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		CTCAGAGAAAGGTATGAATAT	0.423000														68			15		0	0	0.028581	0	0
RARB	5915	broad.mit.edu	37	3	25215977	25215977	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:25215977C>T	uc011awl.2	+	0	155	c.89C>T	c.(88-90)cCa>cTa	p.P30L		NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	30	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TTACTCTTTCCACCTGTCATC	0.612000														51			40		0	0	0.010771	0	0
BMPER	168667	broad.mit.edu	37	7	34192721	34192721	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:34192721G>A	uc011kap.2	+	15	2268	c.1894G>A	c.(1894-1896)Ggt>Agt	p.G632S		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	632	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGTAAGCATGGTGCTGTGTA	0.512000														75			108		0	0	0.014410	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136335	103136335	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:103136335G>A	uc002tbz.4	+	8	2196	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	580					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGATACAAGGAATCAAAAGA	0.453000														28			20		0	0	0.007413	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617529	111617529	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:111617529C>G	uc004bdi.3	-	0	747	c.682G>C	c.(682-684)Gac>Cac	p.D228H		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	228						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGGTGAGGTCACCCCCAGCG	0.637000														8			34		0	0	0.019004	0	0
GPLD1	2822	broad.mit.edu	37	6	24467452	24467452	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:24467452C>T	uc003ned.1	-	7	707	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	GPLD1_uc010jpr.1_Missense_Mutation_p.R36Q|GPLD1_uc010jps.1_Missense_Mutation_p.R199Q	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	199						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GATGACTTTTCGACCATACAG	0.358000														38			21		0	0	0.024334	0	0
AKR1B1	231	broad.mit.edu	37	7	134135573	134135574	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:134135573_134135574CC>TA	uc003vrp.1	-	2	389_390	c.315_316GG>TA	c.(313-318)ctggac>ctTAac	p.D106N		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	106					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	AGGTAGAGGTCCAGGTAGTCCA	0.574000														38			5		0	0	0.004672	0	0
CCDC170	80129	broad.mit.edu	37	6	151936661	151936661	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:151936661G>A	uc003qol.3	+	9	1883	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	598																	AGAAAGCTGAGAAAAAGCTCA	0.398000														25			50		0	0	0.014410	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279128	2279128	+	Missense_Mutation	SNP	G	A	A	rs138541422		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:2279128G>A	uc003slm.3	-	1	252	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	75					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TCTAACACCCGAAGGCCGGGC	0.632000														29			13		0	0	0.020292	0	0
MARCH4	57574	broad.mit.edu	37	2	217234548	217234548	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:217234548C>T	uc002vgb.3	-	0	2203	c.436G>A	c.(436-438)Gat>Aat	p.D146N		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	146						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAGTAGCGATCCTCGGTCTTC	0.582000														40			17		0	0	0.004990	0	0
DTX4	23220	broad.mit.edu	37	11	58949400	58949400	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:58949400G>A	uc001nns.2	+	1	657	c.400G>A	c.(400-402)Gta>Ata	p.V134I	DTX4_uc001nnr.2_Missense_Mutation_p.V28I	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	134	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTTTAGCTACGTAATTGACTT	0.592000														23			36		0	0	0.021022	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643583	94643583	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:94643583A>G	uc001dqj.4	-	20	2990	c.2621T>C	c.(2620-2622)tTg>tCg	p.L874S	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.L440S	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	874	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAACTCTACCAAGCGTGCTTG	0.448000														58			35		0	0	0.013726	0	0
TTC29	83894	broad.mit.edu	37	4	147796026	147796026	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:147796026C>T	uc003ikx.4	-	7	969	c.719G>A	c.(718-720)gGg>gAg	p.G240E	TTC29_uc003ikw.4_Missense_Mutation_p.G214E|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.G214E	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	214							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCATATCCGCCCCTGTGTCAA	0.458000														24			4		0	0	0.009096	0	0
GRM7	2917	broad.mit.edu	37	3	7188268	7188268	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:7188268G>A	uc003bqm.2	+	1	923	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G217S|GRM7_uc003bql.2_Missense_Mutation_p.G217S	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	217					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AAAGGCCCTAGGCTGGAATTA	0.522000														47			31		0	0	0.009535	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72503388	72503388	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr10:72503388G>A	uc001jrg.3	+	12	2018	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	ADAMTS14_uc001jrh.3_Missense_Mutation_p.R670H|ADAMTS14_uc001jri.1_Missense_Mutation_p.R193H	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	670	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GATGGGACACGCTGCAGCTAC	0.652000														6			29		0	0	0.009535	0	0
SMYD4	114826	broad.mit.edu	37	17	1703976	1703976	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:1703976A>T	uc002ftm.4	-	4	880	c.712T>A	c.(712-714)Tgc>Agc	p.C238S	SMYD4_uc002ftn.1_Missense_Mutation_p.C93S	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	238							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GGATCTACGCATAAGCCGATG	0.507000														140			8		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr22:22664186A>G	uc021wml.1	+	31		c.2628A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGATCAAGAAAGCACTCTGA	0.498000														29			3		0	0	0.004672	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559278	1559278	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:1559278C>T	uc010gai.3	-	1	238	c.139G>A	c.(139-141)Gga>Aga	p.G47R	SIRPB1_uc002wfk.4_Missense_Mutation_p.G47R	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	47	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCCGACTCTCCAGCTGCAACT	0.532000														53			75		0	0	0.014410	0	0
ESRRA	2101	broad.mit.edu	37	11	64081732	64081732	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:64081732G>A	uc001nzq.1	+	3	641	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	ESRRA_uc001nzr.1_Missense_Mutation_p.R155Q|ESRRA_uc001nzs.1_Missense_Mutation_p.R155Q|ESRRA_uc009ypn.1_Non-coding_Transcript|ESRRA_uc021qku.1_5'Flank	NM_004451	NP_004442	P11474	ERR1_HUMAN	Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA.	155					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GACCGCGTCCGGGGTGGGCGG	0.697000														5			10		0	0	0.008291	0	0
HEPH	9843	broad.mit.edu	37	X	65474959	65474959	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrX:65474959T>A	uc011moz.2	+	15	2945	c.2808T>A	c.(2806-2808)taT>taA	p.Y936*	HEPH_uc004dwn.3_Nonsense_Mutation_p.Y885*|HEPH_uc004dwo.3_Nonsense_Mutation_p.Y615*|HEPH_uc010nkr.3_Nonsense_Mutation_p.Y693*|HEPH_uc011mpa.2_Nonsense_Mutation_p.Y885*|HEPH_uc010nks.3_Nonsense_Mutation_p.Y174*	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	882	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTGGATCTATTATTCTGCAG	0.473000														23			27		0	0	0.027356	0	0
RETN	56729	broad.mit.edu	37	19	7735189	7735189	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:7735189C>G	uc002mhg.1	+	3	318	c.281C>G	c.(280-282)gCg>gGg	p.A94G	RETN_uc002mhf.1_Missense_Mutation_p.A94G|RETN_uc010dvm.1_Non-coding_Transcript	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN	Homo sapiens resistin (RETN), transcript variant 2, mRNA.	94							hormone activity			ovary(1)	1						TGCCAGTGCGCGGGCATGGAC	0.721000														6			3		0	0	0.004672	0	0
MEGF10	84466	broad.mit.edu	37	5	126791215	126791215	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:126791215G>A	uc003kuh.4	+	24	3510	c.3148G>A	c.(3148-3150)Gag>Aag	p.E1050K	MEGF10_uc003kui.4_Missense_Mutation_p.E1050K	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1050	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGGTTATGTGGAGATGAAATC	0.443000														22			51		0	0	0.014410	0	0
EIF6	3692	broad.mit.edu	37	20	33867751	33867751	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:33867751G>A	uc002xbv.1	-	3	756	c.540C>T	c.(538-540)ccC>ccT	p.P180P	EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Silent_p.P180P|EIF6_uc002xbz.1_Silent_p.P161P|EIF6_uc002xby.1_Non-coding_Transcript	NM_181468	NP_852133	P56537	IF6_HUMAN	Homo sapiens eukaryotic translation initiation factor 6 (EIF6), transcript variant 2, mRNA.	180					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	p.P180L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTACCACAAGGGGGACTTGAA	0.522000														214			60		0	0	0.014410	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657649	72657649	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:72657649C>T	uc003txs.1	-	12	2263	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		acagccttttctggaattcgg	0.488000														67			88		0	0	0.014410	0	0
C15orf2	23742	broad.mit.edu	37	15	24921352	24921352	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:24921352C>T	uc001ywo.3	+	0	812	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	113					cell differentiation|multicellular organismal development|spermatogenesis			p.S112I(1)|p.S113S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CACCCCAGTTCCGTAAGGATC	0.662000														34			16		0	0	0.006122	0	0
SCN3A	6328	broad.mit.edu	37	2	165952078	165952078	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:165952078G>A	uc002ucx.3	-	24	4866	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Silent_p.F1409F|SCN3A_uc002ucz.3_Silent_p.F1409F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1458						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GATTCAGAGTGAAGAATGACC	0.308000														47			20		0	0	0.016522	0	0
NAA11	84779	broad.mit.edu	37	4	80246960	80246960	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:80246960C>T	uc003hlt.4	-	0	212	c.72G>A	c.(70-72)gaG>gaA	p.E24E	NAA11_uc021xpl.1_Silent_p.E24E	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	24	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.E24D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCTGGTAGTTCTCAGGAAGGC	0.498000														44			20		0	0	0.008871	0	0
OLFM3	118427	broad.mit.edu	37	1	102290780	102290780	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:102290780C>T	uc001duf.2	-	3	525	c.454G>A	c.(454-456)Gag>Aag	p.E152K	OLFM3_uc001dug.2_Missense_Mutation_p.E132K|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.E57K|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	152						extracellular region		p.E132Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGCAGGAGCTCGTCCATTTTC	0.413000														20			10		0	0	0.010729	0	0
ESPL1	9700	broad.mit.edu	37	12	53687093	53687093	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:53687093C>T	uc001sck.2	+	30	6289	c.6198C>T	c.(6196-6198)gaC>gaT	p.D2066D	ESPL1_uc001scj.2_Silent_p.D1741D|PFDN5_uc001scl.3_5'Flank|PFDN5_uc001scm.3_5'Flank|PFDN5_uc001scn.3_5'Flank|PFDN5_uc001sco.3_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	2066					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATGTGACTGACCGCGACATTG	0.527000														20			15		0	0	0.028581	0	0
HNF4G	3174	broad.mit.edu	37	8	76476240	76476240	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:76476240C>T	uc003yaq.3	+	10	1406	c.1136C>T	c.(1135-1137)cCa>cTa	p.P379L	HNF4G_uc003yar.3_Missense_Mutation_p.P416L	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	379					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCTTCCCCACCACAAGGCTCT	0.443000														63			51		0	0	0.014410	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403680	47403680	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:47403680G>A	uc001cqp.4	-	1	376	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	CYP4A11_uc001cqq.2_Silent_p.L109L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	109					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GATCTCCCCAGAATCACCTTC	0.507000														59			33		0	0	0.017118	0	0
ZNF667	63934	broad.mit.edu	37	19	56953625	56953625	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:56953625G>A	uc002qne.3	-	6	1530	c.739C>T	c.(739-741)Cat>Tat	p.H247Y	ZNF667_uc010etl.3_Missense_Mutation_p.H29Y|ZNF667_uc002qnd.3_Missense_Mutation_p.H247Y|ZNF667_uc010etm.3_Missense_Mutation_p.H190Y	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCAACAACATGAATTTTCTGA	0.373000														74			39		0	0	0.027894	0	0
TRIP4	9325	broad.mit.edu	37	15	64701817	64701817	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:64701817G>C	uc002anm.3	+	6	893	c.833G>C	c.(832-834)cGa>cCa	p.R278P		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	278					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CTCAGTATTCGAAGGACCCAA	0.398000														47			20		0	0	0.012319	0	0
IL21R	50615	broad.mit.edu	37	16	27460383	27460383	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:27460383G>A	uc002dor.2	+	9	2010	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S	IL21R_uc002doq.2_Missense_Mutation_p.G466S|IL21R_uc002dos.2_Missense_Mutation_p.G466S|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	466					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACTGCCCTGGGGTGGCCGGTC	0.662000			T	BCL6	NHL									23			23		0	0	0.014323	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758250	40758250	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:40758250C>T	uc001cfg.3	+	9	1548	c.1337C>T	c.(1336-1338)cCt>cTt	p.P446L		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	446						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGGGATTCCCTGTTTCTGAC	0.388000														58			43		0	0	0.008740	0	0
ASTN2	23245	broad.mit.edu	37	9	119802190	119802190	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:119802190G>A	uc004bjt.2	-	4	1279	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	ASTN2_uc022bml.1_Missense_Mutation_p.S93F|ASTN2_uc022bmm.1_Missense_Mutation_p.S93F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	444						integral to membrane		p.S393F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGATGCAGGAACTCACAGC	0.498000														7			31		0	0	0.015359	0	0
SETD5	55209	broad.mit.edu	37	3	9517225	9517225	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:9517225C>T	uc003brt.3	+	22	4214	c.3779C>T	c.(3778-3780)tCc>tTc	p.S1260F	SETD5_uc003bru.3_Missense_Mutation_p.S1162F|SETD5_uc003brv.3_Missense_Mutation_p.S1149F|SETD5_uc010hck.3_Missense_Mutation_p.S742F|SETD5_uc003brx.3_Missense_Mutation_p.S929F	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1260	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAGAGTTCCTCCCCCTTCAGA	0.507000														27			22		0	0	0.014323	0	0
CCDC51	79714	broad.mit.edu	37	3	48474298	48474298	+	Silent	SNP	C	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:48474298C>A	uc003ctc.3	-	3	788	c.756G>T	c.(754-756)gcG>gcT	p.A252A	PLXNB1_uc003csx.2_5'Flank|CCDC51_uc021wxn.1_Silent_p.A143A|CCDC51_uc003ctd.3_Silent_p.A143A	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	Homo sapiens coiled-coil domain containing 51 (CCDC51), mRNA.	252						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGTAGCTAGACGCCTGTTCTC	0.602000														52			37		1.90571e-15	2.96118e-15	0.019004	1	0
GJA8	2703	broad.mit.edu	37	1	147380718	147380718	+	Silent	SNP	G	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:147380718G>C	uc021ovm.1	+	0	636	c.636G>C	c.(634-636)gtG>gtC	p.V212V	GJA8_uc001epu.2_Silent_p.V212V	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	212					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGTTGTCTGTGGCCTCTGTGT	0.612000														52			30		0	0	0.008361	0	0
RGS7	6000	broad.mit.edu	37	1	241094032	241094032	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:241094032C>T	uc001hyv.2	-	5	700	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	RGS7_uc010pyh.2_Missense_Mutation_p.E98K|RGS7_uc010pyj.1_Missense_Mutation_p.E40K|RGS7_uc001hyu.2_Missense_Mutation_p.E124K|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.E124K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	124					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGTGTTTTCCGGCTCCCAA	0.383000														92			230		0	0	0.014410	0	0
PRSS38	339501	broad.mit.edu	37	1	228004922	228004922	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:228004922C>T	uc001hrh.3	+	2	324	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	108	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACAAGAATATCAAAATCTATG	0.577000														81			14		0	0	0.020292	0	0
TMEM108	66000	broad.mit.edu	37	3	133099211	133099211	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:133099211T>C	uc003epi.3	+	3	926	c.656T>C	c.(655-657)aTc>aCc	p.I219T	TMEM108_uc003eph.3_Missense_Mutation_p.I219T|TMEM108_uc003epj.1_Missense_Mutation_p.I219T|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	219						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCTTTCAGATCTACAAGGGC	0.597000														38			16		0	0	0.006122	0	0
COL22A1	169044	broad.mit.edu	37	8	139715557	139715557	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:139715557G>A	uc003yvd.3	-	30	2998	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	COL22A1_uc011ljo.2_Missense_Mutation_p.P151S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	851	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACAGTTCCAGGTAACCCGGGA	0.463000										HNSCC(7;0.00092)				42			37		0	0	0.007835	0	0
ITGB1BP3	27231	broad.mit.edu	37	19	3942103	3942103	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:3942103C>T	uc010xia.2	+	6	754	c.540C>T	c.(538-540)tcC>tcT	p.S180S	ITGB1BP3_uc002lyz.4_Silent_p.S175S	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	175					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATGAAGTCCCGAGAGGAGC	0.642000														42			26		0	0	0.009535	0	0
DAPK3	1613	broad.mit.edu	37	19	3959320	3959320	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:3959320G>A	uc002lzc.1	-	7	1238	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	DAPK3_uc002lzb.1_Missense_Mutation_p.R119W|DAPK3_uc002lzd.1_Missense_Mutation_p.R382W	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	382					apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCCTGCCGTAGCCTCCGC	0.711000														7			9		0	0	0.013537	0	0
PCLO	27445	broad.mit.edu	37	7	82390045	82390045	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:82390045C>T	uc003uhx.2	-	23	15487	c.15198G>A	c.(15196-15198)aaG>aaA	p.K5066K		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4989					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTTTTTTTCTTGATCACCT	0.328000														22			7		0	0	0.003080	0	0
KIAA0319	9856	broad.mit.edu	37	6	24588925	24588925	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:24588925G>T	uc011djo.2	-	3	1390	c.890C>A	c.(889-891)cCg>cAg	p.P297Q	KIAA0319_uc011djp.2_Missense_Mutation_p.P252Q|KIAA0319_uc003neh.1_Missense_Mutation_p.P297Q|KIAA0319_uc011djq.1_Missense_Mutation_p.P288Q|KIAA0319_uc011djr.1_Missense_Mutation_p.P297Q	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	297					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGTACTCCCCGGGGTGACTGT	0.582000														120			5		0.00116845	0.00178133	0.021553	1	0
LRRC16A	55604	broad.mit.edu	37	6	25605097	25605097	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:25605097G>A	uc011djw.2	+	33	3978	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	LRRC16A_uc010jpy.3_Missense_Mutation_p.E1204K	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1204					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAGCGGCGTAGAACGGTCGGA	0.498000														14			3		0	0	0.014758	0	0
FRAS1	80144	broad.mit.edu	37	4	79236830	79236830	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:79236830G>A	uc003hlb.2	+	15	2201	c.1761G>A	c.(1759-1761)ggG>ggA	p.G587G	FRAS1_uc003hkw.3_Silent_p.G587G|FRAS1_uc003hky.1_Silent_p.G291G|FRAS1_uc003hkz.3_Silent_p.G291G|FRAS1_uc003hla.1_Silent_p.G98G	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	587					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCATGATGGGAAATGCATGT	0.498000														47			27		0	0	0.021523	0	0
PRODH	5625	broad.mit.edu	37	22	18907078	18907078	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr22:18907078C>T	uc002zok.4	-	10	1341	c.1137G>A	c.(1135-1137)gtG>gtA	p.V379V	PRODH_uc002zoj.4_Silent_p.V269V|PRODH_uc002zol.4_Silent_p.V271V	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	379					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCTCGGCATCCACCATCAGCC	0.602000														14			7		0	0	0.003080	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178916	17178916	+	RNA	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr22:17178916C>T	uc002zls.1	+	2		c.998C>T								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		CAGTAGAAATCGTGCAACAGC	0.597000														4			34		0	0	0.013726	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767838	77767838	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:77767838A>T	uc003yau.2	+	9	9068	c.8681A>T	c.(8680-8682)gAc>gTc	p.D2894V	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2849V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2849						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCCGGATGACAACGCCGAC	0.493000										HNSCC(33;0.089)				24			12		0	0	0.016723	0	0
MUC16	94025	broad.mit.edu	37	19	9091639	9091639	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:9091639G>A	uc002mkp.3	-	0	380	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	59	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTATCTGGGGAAGTAAAGGG	0.517000														56			30		0	0	0.007291	0	0
PTPRK	5796	broad.mit.edu	37	6	128643452	128643452	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:128643452G>A	uc003qbk.3	-	2	594	c.227C>T	c.(226-228)tCc>tTc	p.S76F	PTPRK_uc010kfc.3_Missense_Mutation_p.S76F|PTPRK_uc003qbj.3_Missense_Mutation_p.S76F|PTPRK_uc011ebu.2_Missense_Mutation_p.S76F|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Missense_Mutation_p.S76F|PTPRK_uc003qbm.4_Missense_Mutation_p.S5F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	76	MAM.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATCATATAGGAACCTGAAAT	0.353000														24			45		0	0	0.014410	0	0
CCDC144A	9720	broad.mit.edu	37	17	16703533	16703533	+	RNA	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:16703533C>T	uc010cpj.1	+	18		c.4644C>T			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		CTCCTCAGGACCATGAGGTAG	0.542000														53			21		0	0	0.010504	0	0
OR4K2	390431	broad.mit.edu	37	14	20344745	20344745	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr14:20344745T>A	uc001vwh.1	+	0	319	c.319T>A	c.(319-321)Ttc>Atc	p.F107I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCCACCTTTTCACTGGAAC	0.438000														98			39		0	0	0.027894	0	0
OR2T8	343172	broad.mit.edu	37	1	248085250	248085250	+	Missense_Mutation	SNP	C	T	T	rs149611352		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:248085250C>T	uc010pzc.2	+	0	931	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	311			R -> H (in dbSNP:rs58882030).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCCTTAAGTCGTGAATAAGA	0.408000														185			23		0	0	0.016522	0	0
SP140	11262	broad.mit.edu	37	2	231102945	231102945	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:231102945T>A	uc002vql.3	+	2	370	c.255T>A	c.(253-255)ttT>ttA	p.F85L	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.3_Missense_Mutation_p.F85L|SP140_uc002vqk.2_Missense_Mutation_p.F85L|SP140_uc002vqn.3_Missense_Mutation_p.F85L|SP140_uc002vqm.3_Missense_Mutation_p.F85L|SP140_uc010fxl.3_Missense_Mutation_p.F85L	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	85	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAGAAGCTTTTAGAAACCTGG	0.363000														30			29		0	0	0.008361	0	0
PIK3R6	146850	broad.mit.edu	37	17	8722442	8722442	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:8722442C>T	uc002glq.1	-	18	2191	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	652					platelet activation	cytosol											TTGACAACCTCTGTCACGTTG	0.537000														12			18		0	0	0.012319	0	0
CRLF2	64109	broad.mit.edu	37	X	1321287	1321287	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrX:1321287G>A	uc004cpk.2	-	3	470	c.468C>T	c.(466-468)ttC>ttT	p.F156F	CRLF2_uc022brt.1_Silent_p.F156F|CRLF2_uc004cpl.2_Silent_p.F44F|CRLF2_uc022brs.1_Silent_p.F156F	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	156	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACTCGGTGTCGAAGGGGCTCC	0.617000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									13			23		0	0	0.014323	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720178	140720178	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:140720178C>T	uc003ljk.2	+	0	1825	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S547L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	549	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S547*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAATGTATCATTAAGCCTG	0.587000														27			56		0	0	0.014410	0	0
MYO18B	84700	broad.mit.edu	37	22	26423568	26423568	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr22:26423568C>T	uc003abz.1	+	42	7878	c.7628C>T	c.(7627-7629)cCc>cTc	p.P2543L	MYO18B_uc003aca.1_Missense_Mutation_p.P2424L|MYO18B_uc010guy.1_Missense_Mutation_p.P2425L|MYO18B_uc010guz.1_Missense_Mutation_p.P2423L|MYO18B_uc011aka.1_Missense_Mutation_p.P1697L|MYO18B_uc011akb.1_Missense_Mutation_p.P2056L|MYO18B_uc010gva.1_Missense_Mutation_p.P526L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2543						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGAACGTCCCCCGAGCGGAGA	0.547000														7			9		0	0	0.004482	0	0
DNAH11	8701	broad.mit.edu	37	7	21750226	21750226	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:21750226A>C	uc003svc.3	+	41	6791	c.6760A>C	c.(6760-6762)Aat>Cat	p.N2254H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2254	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAACAAGCAAATCTTAAGCA	0.353000									Kartagener syndrome					39			11		0	0	0.008291	0	0
BPIFB1	92747	broad.mit.edu	37	20	31894787	31894787	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:31894787G>A	uc002wyw.1	+	14	1550	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	BPIFB1_uc002wyx.1_Non-coding_Transcript	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	463						extracellular space	lipid binding										AGTCCTCACTGACCAAGGTGA	0.572000														62			24		0	0	0.024334	0	0
OR1M1	125963	broad.mit.edu	37	19	9204477	9204477	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:9204477G>A	uc010xkj.2	+	0	557	c.557G>A	c.(556-558)cGa>cAa	p.R186Q		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCCATCCTCCGACTTTCGTGC	0.552000														79			42		0	0	0.008740	0	0
ANKS3	124401	broad.mit.edu	37	16	4764059	4764059	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:4764059C>T	uc002cxj.2	-	6	997	c.702G>A	c.(700-702)cgG>cgA	p.R234R	ANKS3_uc002cxi.2_Silent_p.R161R|ANKS3_uc021tcj.1_Silent_p.R105R|ANKS3_uc021tck.1_Silent_p.R127R|ANKS3_uc002cxk.3_Silent_p.R105R|ANKS3_uc010uxs.2_Silent_p.R161R|ANKS3_uc002cxm.3_Silent_p.R28R	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	234										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TACCTGGGCTCCGATAGAGGC	0.622000														35			17		0	0	0.006122	0	0
MUC20	200958	broad.mit.edu	37	3	195453370	195453370	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:195453370G>A	uc010hzo.3	+	2	1509	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	MUC20_uc010hzp.3_Silent_p.A426A|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	632	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		p.A632A(1)		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)		CAACCTCAGCGAAGACCACGA	0.612000														84			24		0	0	0.027356	0	0
SPDEF	25803	broad.mit.edu	37	6	34512119	34512119	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:34512119G>A	uc003ojq.2	-	1	548	c.114C>T	c.(112-114)ctC>ctT	p.L38L	SPDEF_uc011dsq.2_Silent_p.L38L	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	38					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCCGTCTCTCGAGACCCACTG	0.677000														15			13		0	0	0.016723	0	0
TLL1	7092	broad.mit.edu	37	4	166935658	166935658	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:166935658A>G	uc003irh.2	+	7	1635	c.988A>G	c.(988-990)Acc>Gcc	p.T330A	TLL1_uc021xud.1_Missense_Mutation_p.T330A|TLL1_uc011cjn.2_Missense_Mutation_p.T330A|TLL1_uc011cjo.2_Missense_Mutation_p.T154A	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	330	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R329Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGGTCAGCGAACCCGTCTAAG	0.463000														59			29		0	0	0.006320	0	0
IRX2	153572	broad.mit.edu	37	5	2749632	2749632	+	Silent	SNP	C	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:2749632C>T	uc003jda.3	-	1	761	c.519G>A	c.(517-519)aaG>aaA	p.K173K	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.K173K	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	173						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGTTCTCCTTCTTGAGGCGCC	0.597000														71			40		0	0	0.013114	0	0
RBM47	54502	broad.mit.edu	37	4	40440569	40440569	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:40440569G>A	uc003gvc.2	-	3	1052	c.342C>T	c.(340-342)gcC>gcT	p.A114A	RBM47_uc003gvd.2_Silent_p.A114A|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.A76A|RBM47_uc003gvg.1_Silent_p.A114A	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	114	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ACATGACGAAGGCGTAGCCGC	0.647000														44			21		0	0	0.016522	0	0
P2RY6	5031	broad.mit.edu	37	11	73008406	73008406	+	Silent	SNP	G	A	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:73008406G>A	uc021qnb.1	+	0	843	c.843G>A	c.(841-843)gcG>gcA	p.A281A	P2RY6_uc001otm.3_Silent_p.A281A|P2RY6_uc001otn.3_Silent_p.A281A|P2RY6_uc001otq.3_Silent_p.A281A|P2RY6_uc001otr.3_Silent_p.A281A|P2RY6_uc001ots.3_Silent_p.A281A	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	281					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A280S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CCTTTGCAGCGGCCTACAAAG	0.607000														6			28		0	0	0.027356	0	0
TTN	7273	broad.mit.edu	37	2	179659762	179659762	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:179659762C>G	uc021vsy.1	-	6	1357	c.1132G>C	c.(1132-1134)Ggg>Cgg	p.G378R	TTN_uc021vsz.1_Missense_Mutation_p.G378R|TTN_uc021vta.1_Missense_Mutation_p.G378R|TTN_uc021vtb.1_Missense_Mutation_p.G378R|TTN_uc002unb.2_Missense_Mutation_p.G378R|TTN_uc010frg.1_Missense_Mutation_p.G52R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	378							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGTATCTCCCTTCCCATCTC	0.577000														40			27		0	0	0.021523	0	0
KIAA0284	283638	broad.mit.edu	37	14	105360689	105360689	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr14:105360689G>T	uc001yps.3	+	15	4540	c.4234G>T	c.(4234-4236)Gtg>Ttg	p.V1412L	KIAA0284_uc010axb.3_Missense_Mutation_p.V1377L|KIAA0284_uc001ypt.3_Missense_Mutation_p.V115L	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1482						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CGAGAACGAGGTGCCCATCCT	0.632000														46			26		4.59853e-10	7.09086e-10	0.027356	1	0
OR2T29	343563	broad.mit.edu	37	1	248722428	248722429	+	Frame_Shift_Ins	INS	-	CG	CG			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:248722428_248722429insCG	uc001ieo.2	-	0	364_365	c.364_365insCG	c.(364-366)atgfs	p.M122fs		NM_001004694	NP_001004694	Q8NH02	O2T29_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 29 (OR2T29), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATAGGCCATGGTGGCTAGA	0.540													---	4	---	---	2	---					
CPEB2	132864	broad.mit.edu	37	4	15018896	15018897	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:15018896_15018897insT	uc003gnk.2	+	3	2119_2120	c.2119_2120insT	c.(2119-2121)cttfs	p.L707fs	CPEB2_uc003gnl.2_Frame_Shift_Ins_p.L680fs|CPEB2_uc003gnm.2_Frame_Shift_Ins_p.L677fs|CPEB2_uc003gni.2_Frame_Shift_Ins_p.L707fs|CPEB2_uc003gnn.2_Frame_Shift_Ins_p.L680fs|CPEB2_uc003gnj.2_Frame_Shift_Ins_p.L677fs	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	270					regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GCATGATCCTCTTAAGGGTAGG	0.327													---	29	---	---	12	---					
LOC644669	644669	broad.mit.edu	37	18	15325911	15325911	+	RNA	DEL	T	-	-			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr18:15325911delT	uc002ktd.1	-	0		c.8delA								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		AGTTGTCCTGTTTTCACCATC	0.423													---	4	---	---	2	---					
STARD8	9754	broad.mit.edu	37	X	67943519	67943520	+	Frame_Shift_Ins	INS	-	C	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrX:67943519_67943520insC	uc004dxb.3	+	12	3065_3066	c.2851_2852insC	c.(2851-2853)gccfs	p.A951fs	STARD8_uc004dxa.3_Frame_Shift_Ins_p.A871fs|STARD8_uc004dxc.4_Frame_Shift_Ins_p.A871fs	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	871	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.A874fs*16(2)|p.A954fs*16(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGAGGTGGCAGCCCCCCCAGCT	0.678													---	4	---	---	3	---