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
DMBX1	127343	broad.mit.edu	37	1	46972778	46972778	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:46972778G>A	uc001cpx.3	+	0	111	c.96G>A	c.(94-96)caG>caA	p.Q32Q	DMBX1_uc001cpw.3_Silent_p.Q32Q	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	32	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCAGGCCCAGCATGCCCCCG	0.642												
ZCCHC11	23318	broad.mit.edu	37	1	52981638	52981638	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:52981638C>G	uc001cty.2	-	2	1060	c.807G>C	c.(805-807)ttG>ttC	p.L269F	ZCCHC11_uc001ctx.2_Missense_Mutation_p.L269F|ZCCHC11_uc009vze.1_Missense_Mutation_p.L269F|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L28F|ZCCHC11_uc001cub.3_Missense_Mutation_p.L269F|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.L269F	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	269					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTCAGGTGTCAATGCAGATT	0.343												
LRRC7	57554	broad.mit.edu	37	1	70477511	70477511	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:70477511T>C	uc001dep.3	+	9	952	c.922T>C	c.(922-924)Tgt>Cgt	p.C308R	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	308						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTGTAGCTGTAATGAACT	0.328												
FAM46C	54855	broad.mit.edu	37	1	118166577	118166577	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:118166577G>A	uc021osq.1	+	0	1087	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	FAM46C_uc001ehe.3_Missense_Mutation_p.V363I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	363										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGCCCCTTACGTCAGTGATGG	0.557			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)		
PDE4DIP	9659	broad.mit.edu	37	1	144863324	144863324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:144863324delG	uc021ouh.1	-	36	6381	c.6079delC	c.(6079-6081)ctgfs	p.L2027fs	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Frame_Shift_Del_p.L2027fs|PDE4DIP_uc001elx.4_Frame_Shift_Del_p.L1921fs|PDE4DIP_uc001elv.4_Frame_Shift_Del_p.L1034fs|PDE4DIP_uc001ema.3_3'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2027					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATACCTTTCAGCCCCTTCTTG	0.488			T	PDGFRB	MPD							
RGS4	5999	broad.mit.edu	37	1	163044147	163044147	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:163044147C>T	uc001gcl.4	+	5	1035	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RGS4_uc009wuy.3_Missense_Mutation_p.R139W|RGS4_uc009wuz.3_Missense_Mutation_p.P83L|RGS4_uc009wva.3_Missense_Mutation_p.R121W	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	139					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAGACAAGCCGGAACATGCT	0.507												
C1orf112	55732	broad.mit.edu	37	1	169811564	169811564	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:169811564G>A	uc001ggq.3	+	17	2432	c.1732G>A	c.(1732-1734)Gta>Ata	p.V578I	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Missense_Mutation_p.V578I|C1orf112_uc009wvt.3_Missense_Mutation_p.V255I|C1orf112_uc009wvu.1_Missense_Mutation_p.V454I|C1orf112_uc001ggr.3_Missense_Mutation_p.V443I|C1orf112_uc010plv.2_Missense_Mutation_p.V520I	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	578										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAGAACACAGTACTGTCTGC	0.403												
CEP350	9857	broad.mit.edu	37	1	180063490	180063490	+	Silent	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:180063490A>G	uc001gnt.3	+	33	8633	c.8250A>G	c.(8248-8250)aaA>aaG	p.K2750K	CEP350_uc009wxl.2_Silent_p.K2749K|CEP350_uc001gnv.3_Silent_p.K885K|CEP350_uc001gnw.1_Silent_p.K507K|CEP350_uc001gnx.1_Silent_p.K507K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2750						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACTGGAAAAAATCAGCTTAC	0.358												
CACNA1E	777	broad.mit.edu	37	1	181479699	181479699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:181479699delC	uc009wxt.3	+	1	548	c.353delC	c.(352-354)accfs	p.T118fs	CACNA1E_uc001gow.3_Frame_Shift_Del_p.T118fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.T118fs|CACNA1E_uc009wxr.3_Frame_Shift_Del_p.T25fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	118					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATGACAAGACCCCCATGTCC	0.527												
TPR	7175	broad.mit.edu	37	1	186329081	186329081	+	Silent	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:186329081T>C	uc001grv.3	-	11	1536	c.1239A>G	c.(1237-1239)aaA>aaG	p.K413K	MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Silent_p.K489K	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	413					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGTTCTCTAGTTTCTCCAAAA	0.363			T	NTRK1	papillary thyroid							
PTPRC	5788	broad.mit.edu	37	1	198608459	198608459	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:198608459G>T	uc001gur.1	+	1	235	c.55G>T	c.(55-57)Gta>Tta	p.V19L	PTPRC_uc001gut.1_Missense_Mutation_p.V19L|PTPRC_uc001guq.3_Missense_Mutation_p.V19L|PTPRC_uc009wze.1_Missense_Mutation_p.V21L|PTPRC_uc009wzf.1_Missense_Mutation_p.V21L|PTPRC_uc021pgy.1_Missense_Mutation_p.V21L|PTPRC_uc010ppg.1_Missense_Mutation_p.V21L|PTPRC_uc001guu.1_Missense_Mutation_p.V21L|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	19					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGACACAGAAGTATTTGTGAC	0.338												
RAB3GAP2	25782	broad.mit.edu	37	1	220325030	220325030	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:220325030G>A	uc010puk.1	-	33	4108	c.3944C>T	c.(3943-3945)gCg>gTg	p.A1315V	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A1315V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A895V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1315					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTGGAGAAGCGCATGAGCCAG	0.507												
ZP4	57829	broad.mit.edu	37	1	238053168	238053168	+	Silent	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:238053168T>A	uc001hym.3	-	3	687	c.400_splice	c.e3+1	p.A134_splice	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	134					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGCCTTTACCTAGAAGATCCA	0.547												
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:89720852C>T	uc001kfb.3	+	7	2035	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
COL17A1	1308	broad.mit.edu	37	10	105813706	105813706	+	Silent	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:105813706T>C	uc001kxr.3	-	21	1975	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	COL17A1_uc010qqv.1_Silent_p.Q586Q	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	602	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTTGGTCCTTGTGGACCTG	0.443												
WDR11	55717	broad.mit.edu	37	10	122645345	122645345	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:122645345A>G	uc021pzt.1	+	14	2114	c.1868A>G	c.(1867-1869)aAc>aGc	p.N623S	WDR11_uc010qte.2_Missense_Mutation_p.N225S|WDR11_uc001lfd.1_Missense_Mutation_p.N141S	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	623						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CCATCTCACAACTTGAAGAGC	0.488												
OR51A2	401667	broad.mit.edu	37	11	4976146	4976146	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:4976146G>A	uc010qyt.2	-	0	798	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACATGCCCGGCAAAGCGGT	0.453												
TRIM5	85363	broad.mit.edu	37	11	5699638	5699638	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:5699638G>A	uc001mbm.2	-	3	843	c.540C>T	c.(538-540)aaC>aaT	p.N180N	TRIM5_uc001mbq.1_Silent_p.N180N|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Silent_p.N180N|TRIM5_uc001mbp.3_Silent_p.N180N|TRIM5_uc021qcx.1_Silent_p.N180N	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	180					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	p.N180S(1)|p.T179S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTGCCAAGACGTTGGTTTTGT	0.473												
NAV2	89797	broad.mit.edu	37	11	20065530	20065530	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:20065530G>A	uc010rdm.2	+	13	3341	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	NAV2_uc001mpp.3_Missense_Mutation_p.D907N|NAV2_uc001mpr.4_Missense_Mutation_p.D971N|NAV2_uc021qew.1_Missense_Mutation_p.D971N|NAV2_uc001mpt.2_Missense_Mutation_p.D57N|NAV2_uc009yhx.3_Missense_Mutation_p.D57N|NAV2_uc009yhy.1_5'UTR	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	994						nucleus	ATP binding|helicase activity	p.D994N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCACAGACTGATGCTGAGAA	0.507												
OR10AG1	282770	broad.mit.edu	37	11	55735214	55735214	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:55735214G>T	uc010rit.2	-	0	726	c.726C>A	c.(724-726)ttC>ttA	p.F242L		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CTGCTCCAAAGAATAAGATTA	0.388												
OR5B2	390190	broad.mit.edu	37	11	58189829	58189829	+	Silent	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:58189829C>A	uc010rkg.2	-	0	958	c.906G>T	c.(904-906)gtG>gtT	p.V302V		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCTTCTCAACACTTTCTTGA	0.383												
WDR74	54663	broad.mit.edu	37	11	62602979	62602979	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:62602979C>T	uc001nvm.2	-	6	710	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	WDR74_uc001nvl.2_Missense_Mutation_p.R181Q|WDR74_uc009yoi.2_Missense_Mutation_p.R181Q|WDR74_uc010rmk.2_3'UTR	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	Homo sapiens WD repeat domain 74 (WDR74), mRNA.	181						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GATGGGAACCCGCAAGTCCAG	0.607												
HTR3B	9177	broad.mit.edu	37	11	113813844	113813844	+	Silent	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:113813844G>T	uc001pok.3	+	6	975	c.837G>T	c.(835-837)gtG>gtT	p.V279V	HTR3B_uc001pol.3_Silent_p.V268V	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	279					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GTGTGCTGGTGGGCTACACCG	0.572												
VWF	7450	broad.mit.edu	37	12	6058287	6058287	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:6058287G>A	uc001qnn.1	-	51	8586	c.8336C>T	c.(8335-8337)aCg>aTg	p.T2779M	ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2779	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.R2778Q(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATGGGCTCCGTCCGTGTCGG	0.562												
GYS2	2998	broad.mit.edu	37	12	21733300	21733300	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:21733300G>A	uc001rfb.3	-	1	534	c.279C>T	c.(277-279)gaC>gaT	p.D93D		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	93					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TATTCATTGCGTCCACTGCTC	0.403												
MBD6	114785	broad.mit.edu	37	12	57922312	57922312	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:57922312C>T	uc001soj.1	+	9	3013	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	MBD6_uc001sok.1_Missense_Mutation_p.P798L|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	930						chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AAGGATCCACCCCCTCCCGGG	0.577												
ZFC3H1	196441	broad.mit.edu	37	12	72025622	72025622	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:72025622T>C	uc001swo.2	-	15	3765	c.3406A>G	c.(3406-3408)Atg>Gtg	p.M1136V		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1136					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCACTTCCATTGTTTTACTT	0.358												
SSH1	54434	broad.mit.edu	37	12	109212060	109212060	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:109212060T>A	uc001tnm.3	-	3	331	c.244A>T	c.(244-246)Atc>Ttc	p.I82F	SSH1_uc010sxg.2_Missense_Mutation_p.I93F|SSH1_uc001tnn.4_Missense_Mutation_p.I82F|SSH1_uc001tno.1_5'Flank	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	82					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAAGGTTGATCATCACCTGA	0.383												
ACACB	32	broad.mit.edu	37	12	109639415	109639415	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:109639415G>A	uc001tob.3	+	18	2941	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	ACACB_uc001toc.3_Missense_Mutation_p.R941Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	941	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAAAGAGGCCGGGTGAAGTAC	0.542												
CUX2	23316	broad.mit.edu	37	12	111772383	111772383	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:111772383C>T	uc001tsa.2	+	18	3219	c.3065C>T	c.(3064-3066)tCg>tTg	p.S1022L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1022						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGCTCCTCGTTGAGCGGG	0.647												
PITPNM2	57605	broad.mit.edu	37	12	123481392	123481393	+	Frame_Shift_Ins	INS	-	-	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:123481392_123481393insC	uc001uej.1	-	10	1736_1737	c.1537_1538insG	c.(1537-1539)gccfs	p.A513fs	PITPNM2_uc001uek.1_Frame_Shift_Ins_p.A513fs	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	513					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAGGGGGAGGGCAGCCAGGGGA	0.639												
DNAH10	196385	broad.mit.edu	37	12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:124333280G>A	uc001uft.4	+	32	5624	c.5599G>A	c.(5599-5601)Gtg>Atg	p.V1867M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1867	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443												
RIMBP2	23504	broad.mit.edu	37	12	130935764	130935764	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:130935764G>A	uc001uil.2	-	4	645	c.429C>T	c.(427-429)agC>agT	p.S143S	RIMBP2_uc001uim.3_Silent_p.S51S	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	143						cell junction|synapse		p.S143S(2)|p.G142S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCATCTTGCGCTACCGGATC	0.637												
GPR133	283383	broad.mit.edu	37	12	131620612	131620612	+	Silent	SNP	G	G	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:131620612G>C	uc010tbm.2	+	22	2953	c.2394G>C	c.(2392-2394)ctG>ctC	p.L798L	GPR133_uc001uit.4_Silent_p.L766L|GPR133_uc009zyo.3_Silent_p.L48L|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	766					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCGTGCTGCTGCCCATCCTGG	0.592												
ZNF140	7699	broad.mit.edu	37	12	133682985	133682985	+	Silent	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:133682985A>G	uc001ulo.3	+	4	1792	c.1122A>G	c.(1120-1122)caA>caG	p.Q374Q	ZNF140_uc001ulp.3_Silent_p.Q271Q|ZNF140_uc010tbu.2_Silent_p.Q271Q	NM_003440	NP_003431	P52738	ZN140_HUMAN	Homo sapiens zinc finger protein 140 (ZNF140), mRNA.	374						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCCTTATTCAACATACGAAGA	0.408												
RFX7	64864	broad.mit.edu	37	15	56386880	56386881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr15:56386880_56386881insG	uc010bfn.3	-	8	3045_3046	c.3045_3046insC	c.(3043-3048)cccagcfs	p.P1015fs	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Frame_Shift_Ins_p.P829fs	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	918					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCAACAGGGCTGGGGGGGACAC	0.500												
SKOR1	390598	broad.mit.edu	37	15	68118859	68118859	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr15:68118859C>T	uc002aqy.1	+	1	666	c.666C>T	c.(664-666)gaC>gaT	p.D222D		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	231					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	p.D222D(2)|p.D231D(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GAACACCCGACGCCAAGTACA	0.572												
C15orf32	145858	broad.mit.edu	37	15	93015653	93015653	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr15:93015653T>C	uc002brc.1	+	0	747	c.275T>C	c.(274-276)gTg>gCg	p.V92A	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	92										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			agctcacgagtggATGGTTTG	0.413												
UNKL	64718	broad.mit.edu	37	16	1449391	1449391	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr16:1449391G>A	uc010brn.2	-	4	731	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	UNKL_uc002clq.3_Missense_Mutation_p.R240W	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN	Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.	240						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TGGAACCGCCGGGGGTTGCGC	0.701												
FBXO31	79791	broad.mit.edu	37	16	87368933	87368933	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr16:87368933G>A	uc002fjw.3	-	6	1017	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	FBXO31_uc010vot.2_Missense_Mutation_p.R153C|FBXO31_uc002fjv.3_Missense_Mutation_p.R217C	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	325					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.F324F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCCCTGGCACGCCGGCCGTGG	0.662												
OR1G1	8390	broad.mit.edu	37	17	3029921	3029921	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:3029921T>C	uc002fvc.1	-	0	925	c.925A>G	c.(925-927)Aaa>Gaa	p.K309E		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GAATGAATTTTCCGAACCCAG	0.428												
SLC6A4	6532	broad.mit.edu	37	17	28545202	28545202	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:28545202T>G	uc002hey.4	-	4	1176	c.632A>C	c.(631-633)aAt>aCt	p.N211T		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	211					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GGAGAAGTAATTGGTGCAGTT	0.542												
ZNHIT3	9326	broad.mit.edu	37	17	34851065	34851065	+	Splice_Site	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:34851065A>G	uc002hms.1	+	5	358	c.287_splice	c.e5-2	p.G96_splice	ZNHIT3_uc002hmt.1_Splice_Site|ZNHIT3_uc010cut.1_Intron	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.	96					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GTTAATTTTTAGGGGAATCTG	0.403												
TNS4	84951	broad.mit.edu	37	17	38652473	38652473	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:38652473C>T	uc010cxb.3	-	1	369	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	69					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.A69V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCTGTGGGGCTTGCTGGAGT	0.652												
MRC2	9902	broad.mit.edu	37	17	60758249	60758249	+	Silent	SNP	G	G	A	rs150592174		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:60758249G>A	uc002jad.3	+	16	2964	c.2562G>A	c.(2560-2562)acG>acA	p.T854T	MRC2_uc002jae.3_5'UTR|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	854	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCATCTGCACGTGGTTCCAGG	0.637												
ZNF521	25925	broad.mit.edu	37	18	22806841	22806841	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr18:22806841G>A	uc002kvk.2	-	3	1288	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.V347V|ZNF521_uc002kvl.2_Silent_p.V127V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	347					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCCCACCGTGACCAGGGAAG	0.542			T	PAX5	ALL							
TMPRSS9	360200	broad.mit.edu	37	19	2421886	2421886	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:2421886C>G	uc010xgx.2	+	12	2087	c.2087C>G	c.(2086-2088)gCc>gGc	p.A696G		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	696	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGCGAGGAGGCCCCTGGCGTG	0.617												
HOOK2	29911	broad.mit.edu	37	19	12876795	12876795	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:12876795G>A	uc002muy.2	-	15	1716	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	HOOK2_uc002muz.2_Silent_p.A515A	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	515	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCTCCACCTGGGCCCGCAGCT	0.672											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RYR1	6261	broad.mit.edu	37	19	38954119	38954119	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:38954119C>T	uc002oit.3	+	20	2764	c.2634C>T	c.(2632-2634)caC>caT	p.H878H	RYR1_uc002oiu.3_Silent_p.H878H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	878	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAACATCCACGAGCTCTGGG	0.662												
PRKD2	25865	broad.mit.edu	37	19	47181674	47181674	+	Missense_Mutation	SNP	A	A	C	rs55933311		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:47181674A>C	uc002pfh.3	-	16	2659	c.2317T>G	c.(2317-2319)Tgg>Ggg	p.W773G	PRKD2_uc010eks.3_Missense_Mutation_p.W176G|PRKD2_uc010ekt.3_Missense_Mutation_p.W40G|PRKD2_uc002pfg.3_Missense_Mutation_p.W616G|PRKD2_uc002pfi.3_Missense_Mutation_p.W773G|PRKD2_uc002pfj.3_Missense_Mutation_p.W773G|PRKD2_uc010xye.2_Missense_Mutation_p.W773G|PRKD2_uc002pfk.3_Missense_Mutation_p.W616G	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	773	Protein kinase.		W -> R (in dbSNP:rs55933311).		cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		ATGTGGCTCCAGGGGCTGGCC	0.642												
SLC6A16	28968	broad.mit.edu	37	19	49812323	49812323	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:49812323A>T	uc002pmz.3	-	6	1273	c.1039T>A	c.(1039-1041)Ttg>Atg	p.L347M	SLC6A16_uc002pna.3_Missense_Mutation_p.L347M|MIR4324_uc021uxj.1_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	347						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GTGTTAGACAAAACTTGACCC	0.478												
SIGLEC9	27180	broad.mit.edu	37	19	51630344	51630344	+	Missense_Mutation	SNP	G	G	A	rs149764192		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:51630344G>A	uc010yct.2	+	3	901	c.806G>A	c.(805-807)cGc>cAc	p.R269H	SIGLEC9_uc002pvu.3_Missense_Mutation_p.R269H	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	269	Ig-like C2-type 2.			R -> H (in Ref. 2; AAF87223).	cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CAGTCTCTGCGCCTGGTCTGT	0.562												
ZNF581	51545	broad.mit.edu	37	19	56155985	56155985	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:56155985C>T	uc002qln.3	+	1	321	c.48C>T	c.(46-48)tcC>tcT	p.S16S	ZNF581_uc002qlq.3_Silent_p.S16S|ZNF581_uc021vcb.1_Silent_p.S16S|CCDC106_uc002qlr.3_5'Flank|CCDC106_uc021vcc.1_5'Flank|CCDC106_uc021vcd.1_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	Homo sapiens zinc finger protein 581 (ZNF581), mRNA.	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CATTTTCCTCCGTTGAGACCA	0.617												
LOXL3	84695	broad.mit.edu	37	2	74761513	74761513	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:74761513G>A	uc002smp.1	-	10	1941	c.1869C>T	c.(1867-1869)acC>acT	p.T623T	LOXL3_uc002smo.1_Silent_p.T262T|LOXL3_uc010ffm.1_Silent_p.T567T|LOXL3_uc002smq.1_Silent_p.T478T|LOXL3_uc010ffn.1_Silent_p.T478T	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	623	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGCCATTTGGGGTGAGGATAT	0.527												
CTNNA2	1496	broad.mit.edu	37	2	80801323	80801323	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:80801323A>T	uc010ysh.2	+	11	1782	c.1777A>T	c.(1777-1779)Att>Ttt	p.I593F	CTNNA2_uc010yse.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysf.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysg.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysi.2_Missense_Mutation_p.I225F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	593					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGAGGTTGCCATTGAAGCCCT	0.483												
POTEF	728378	broad.mit.edu	37	2	130877801	130877801	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:130877801G>T	uc010fmh.2	-	2	688	c.288C>A	c.(286-288)aaC>aaA	p.N96K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	96						cell cortex	ATP binding	p.N96N(3)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCATCTTGTTCCTGAGTG	0.612												
POTEE	445582	broad.mit.edu	37	2	131976263	131976263	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:131976263C>A	uc002tsn.2	+	0	340	c.288C>A	c.(286-288)aaC>aaA	p.N96K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	96							ATP binding										CACTCAGGAACAAGATGGGGA	0.617												
RAB3GAP1	22930	broad.mit.edu	37	2	135893152	135893155	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:135893152_135893155delGAAA	uc010fnf.3	+	16	1616_1619	c.1573_1576delGAAA	c.(1573-1578)gaaagafs	p.E525fs	RAB3GAP1_uc002tuj.3_Frame_Shift_Del_p.E525fs|RAB3GAP1_uc010fng.3_Frame_Shift_Del_p.E350fs|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	525						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTGTTGTATTGAAAGAAAGAAGGC	0.333												
TTN	7273	broad.mit.edu	37	2	179500424	179500424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:179500424delA	uc021vsy.1	-	175	34148	c.33923delT	c.(33922-33924)ctgfs	p.L11308fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.L5003fs|TTN_uc021vta.1_Frame_Shift_Del_p.L4936fs|TTN_uc021vtb.1_Frame_Shift_Del_p.L4811fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12235	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTTTCACCAGCCAATCTCT	0.353												
KLF7	8609	broad.mit.edu	37	2	207988812	207988812	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:207988812G>A	uc002vbz.1	-	1	741	c.419C>T	c.(418-420)tCg>tTg	p.S140L	KLF7_uc002vca.1_Missense_Mutation_p.S140L|KLF7_uc010zix.1_Missense_Mutation_p.S112L	NM_003709	NP_003700	O75840	KLF7_HUMAN	Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA.	140					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CTCAGGGGACGATGGGGGCGT	0.597												
DOCK10	55619	broad.mit.edu	37	2	225666723	225666723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:225666723G>A	uc010fwz.1	-	39	4542	c.4303C>T	c.(4303-4305)Cag>Tag	p.Q1435*	DOCK10_uc002vob.2_Nonsense_Mutation_p.Q1429*|DOCK10_uc002voa.2_Nonsense_Mutation_p.Q91*|DOCK10_uc002voc.2_Nonsense_Mutation_p.Q289*	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1435							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GATCTGTGCTGCTTATGGCCT	0.378												
CAPN10	11132	broad.mit.edu	37	2	241556394	241556394	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:241556394C>T	uc002vzq.2	+	4	594	c.398_splice	c.e4-1	p.A133_splice	GPR35_uc010fzi.2_Intron|GPR35_uc010fzh.2_Intron			Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 3, mRNA.	0	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		taccaacagccacctggggga	0.537												
C20orf194	25943	broad.mit.edu	37	20	3274853	3274853	+	Missense_Mutation	SNP	G	G	A	rs145634255	by1000genomes	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:3274853G>A	uc002wii.2	-	24	2221	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	C20orf194_uc002wij.3_Missense_Mutation_p.R463W|C20orf194_uc002wik.2_Missense_Mutation_p.R398W	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	724										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGATGGGTCCGCATCACAGGC	0.468												
SEC23B	10483	broad.mit.edu	37	20	18534935	18534935	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:18534935C>A	uc002wra.2	+	17	2510	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	SEC23B_uc010zsb.2_Missense_Mutation_p.F665L|SEC23B_uc002wrb.2_Missense_Mutation_p.F683L|SEC23B_uc002wqz.2_Missense_Mutation_p.F683L|SEC23B_uc002wrc.2_Missense_Mutation_p.F683L	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	683					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATGAAAACTTCAAGCACCTTC	0.493												
BPI	671	broad.mit.edu	37	20	36932754	36932754	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:36932754C>T	uc002xib.2	+	1	204	c.142_splice	c.e1+1	p.A48_splice		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	48					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCTGGACTACGGTAACTGGA	0.607												
SLC9A8	23315	broad.mit.edu	37	20	48503378	48503378	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:48503378C>T	uc002xuv.1	+	14	1791	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SLC9A8_uc010zym.1_Silent_p.F227F|SLC9A8_uc010gid.3_Silent_p.F151F	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	527						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.F527F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627												
BRWD1	54014	broad.mit.edu	37	21	40571510	40571510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr21:40571510G>T	uc002yxk.2	-	39	5127	c.4832C>A	c.(4831-4833)tCa>tAa	p.S1611*	BRWD1_uc010goc.1_Nonsense_Mutation_p.S254*|BRWD1_uc021wjf.1_Nonsense_Mutation_p.S1611*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGTCTCCAATGAATTGTTATC	0.378											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
CABIN1	23523	broad.mit.edu	37	22	24466765	24466765	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr22:24466765G>A	uc002zzi.1	+	16	2374	c.2247G>A	c.(2245-2247)cgG>cgA	p.R749R	CABIN1_uc021wnc.1_Silent_p.R699R|CABIN1_uc002zzj.1_Silent_p.R699R|CABIN1_uc002zzl.2_Silent_p.R749R	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	749					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCTTGCTCCGGCTGAAGGACT	0.562												
RANGAP1	5905	broad.mit.edu	37	22	41654011	41654011	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr22:41654011G>A	uc003azs.3	-	5	2185	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	RANGAP1_uc003azt.3_Missense_Mutation_p.R239W|RANGAP1_uc003azu.3_Missense_Mutation_p.R239W|RANGAP1_uc011aoz.2_Missense_Mutation_p.R184W	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	239					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATGACCCGCAGCAGGGGG	0.627												
IL5RA	3568	broad.mit.edu	37	3	3139898	3139898	+	Silent	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:3139898T>C	uc011ask.2	-	6	1088	c.444A>G	c.(442-444)tcA>tcG	p.S148S	IL5RA_uc010hbq.3_Silent_p.S148S|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.S148S|IL5RA_uc011asl.2_Silent_p.S148S|IL5RA_uc011asm.1_Silent_p.S148S|IL5RA_uc010hbt.2_Silent_p.S148S|IL5RA_uc011asn.1_Silent_p.S148S|IL5RA_uc010hbu.2_Silent_p.S148S	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	148					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AAACTTGGTATGACCTTAAAC	0.413												
GADL1	339896	broad.mit.edu	37	3	30885739	30885739	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:30885739T>A	uc003cep.2	-	7	796	c.749A>T	c.(748-750)gAg>gTg	p.E250V	GADL1_uc003ceq.1_Missense_Mutation_p.E250V	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	250					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTCCAGTTCCTCAGGTATCAT	0.438												
PLXNB1	5364	broad.mit.edu	37	3	48462792	48462792	+	Missense_Mutation	SNP	A	A	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:48462792A>C	uc003csw.2	-	8	1924	c.1654_splice	c.e8-1	p.V552_splice	PLXNB1_uc003csu.2_Splice_Site_p.V552_splice|PLXNB1_uc003csx.2_Splice_Site_p.V552_splice|PLXNB1_uc010hjx.1_Splice_Site	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	552					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGATAGGAAAACCTGCCAAGA	0.577												
FLNB	2317	broad.mit.edu	37	3	58135696	58135696	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:58135696G>A	uc003djj.2	+	36	6376	c.6211G>A	c.(6211-6213)Gtc>Atc	p.V2071I	FLNB_uc010hne.2_Missense_Mutation_p.V2102I|FLNB_uc003djk.2_Missense_Mutation_p.V2060I|FLNB_uc010hnf.2_Missense_Mutation_p.V2047I|FLNB_uc003djl.2_Missense_Mutation_p.V1891I|FLNB_uc003djm.2_Missense_Mutation_p.V1878I|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2071	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTTTATATCGTCTCCACCAA	0.562												
PHLDB2	90102	broad.mit.edu	37	3	111632476	111632476	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:111632476G>A	uc010hqa.3	+	2	2057	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	PHLDB2_uc003dyc.3_Missense_Mutation_p.R576Q|PHLDB2_uc003dyd.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyg.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyh.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyi.3_Missense_Mutation_p.R135Q|PHLDB2_uc003dyf.4_Missense_Mutation_p.R549Q	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	549						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACCTCACCCGGACTCCTCCA	0.522												
PCCB	5096	broad.mit.edu	37	3	135980854	135980854	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:135980854G>A	uc011bmc.2	+	5	601	c.550G>A	c.(550-552)Gca>Aca	p.A184T	PCCB_uc003eqz.1_Missense_Mutation_p.A164T|PCCB_uc003eqy.2_Missense_Mutation_p.A164T|PCCB_uc011bmd.1_Missense_Mutation_p.A81T	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	164	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CTCTGGGGGAGCACGGATCCA	0.458												
MECOM	2122	broad.mit.edu	37	3	168845829	168845829	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:168845829G>A	uc011bpj.1	-	4	1036	c.633C>T	c.(631-633)tgC>tgT	p.C211C	MECOM_uc010hwk.1_Silent_p.C46C|MECOM_uc003ffj.3_Silent_p.C87C|MECOM_uc003ffi.3_Silent_p.C23C|MECOM_uc011bpi.1_Silent_p.C23C|MECOM_uc003ffn.3_Silent_p.C23C|MECOM_uc003ffk.2_Silent_p.C23C|MECOM_uc003ffl.2_Silent_p.C183C|MECOM_uc011bpk.1_Silent_p.C23C|MECOM_uc010hwn.2_Silent_p.C211C|MECOM_uc003ffm.1_Silent_p.C87C	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.C23*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACAGTCTTCGCAGCGATATT	0.433												
MUC4	4585	broad.mit.edu	37	3	195498599	195498599	+	Missense_Mutation	SNP	C	C	T	rs145772547		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:195498599C>T	uc021xjp.1	-	4	13322	c.13166G>A	c.(13165-13167)cGg>cAg	p.R4389Q	MUC4_uc003fuz.3_Missense_Mutation_p.G69R|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.R130Q|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.R130Q|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.R153Q|MUC4_uc003fvp.3_Missense_Mutation_p.R102Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1146					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACAGGGTCCCGGCCTGTGAA	0.562												
SLC10A4	201780	broad.mit.edu	37	4	48486116	48486116	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:48486116G>A	uc003gyc.2	+	0	757	c.538G>A	c.(538-540)Ggc>Agc	p.G180S		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	180						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTGTCCCGGCGGCAATCTCTC	0.632												
YTHDC1	91746	broad.mit.edu	37	4	69184554	69184554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:69184554C>A	uc003hdx.3	-	12	2064	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	YTHDC1_uc003hdy.3_Nonsense_Mutation_p.E553*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	571	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTGTCCACTTCCTGGTATCGT	0.318												
SGMS2	166929	broad.mit.edu	37	4	108831540	108831540	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:108831540C>T	uc003hyo.3	+	5	1568	c.929C>T	c.(928-930)tCt>tTt	p.S310F	SGMS2_uc003hyl.4_Missense_Mutation_p.S310F|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Missense_Mutation_p.S310F	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	310					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	AATTTCTTATCTCGAGCATGG	0.388												
MAML3	55534	broad.mit.edu	37	4	140810713	140810713	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:140810713T>G	uc021xsg.1	-	1	2629	c.1877A>C	c.(1876-1878)aAc>aCc	p.N626T	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	622	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.N626T(3)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CATCAAGGGGTTTTTGTTGGG	0.562												
TBC1D9	23158	broad.mit.edu	37	4	141545490	141545490	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:141545490C>T	uc010ioj.3	-	18	3224	c.2952G>A	c.(2950-2952)acG>acA	p.T984T		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	984						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTAGGCTCACCGTAACAAAGC	0.373												
SLC6A18	348932	broad.mit.edu	37	5	1225635	1225635	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:1225635G>A	uc003jby.2	+	0	166	c.43G>A	c.(43-45)Ggg>Agg	p.G15R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	15					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCGACCTCGGGGATGAGAG	0.642												
LHFPL2	10184	broad.mit.edu	37	5	77784877	77784877	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:77784877C>T	uc003kfo.3	-	4	1206	c.530G>A	c.(529-531)gGa>gAa	p.G177E		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	177						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGCAGTCTCCAGGTTTGTA	0.512												
ARSK	153642	broad.mit.edu	37	5	94918696	94918696	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:94918696C>T	uc003kld.3	+	3	651	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	ARSK_uc010jbg.3_Missense_Mutation_p.R6C|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	165						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TAATCTTATCCGTAACAGGAC	0.418												
PHF15	23338	broad.mit.edu	37	5	133902013	133902013	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:133902013C>T	uc003kzk.2	+	8	1263	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	PHF15_uc011cxt.1_Missense_Mutation_p.R393C|PHF15_uc003kzl.2_Missense_Mutation_p.R393C|PHF15_uc003kzm.2_Missense_Mutation_p.R393C|PHF15_uc003kzn.2_Missense_Mutation_p.R393C|PHF15_uc003kzo.1_Missense_Mutation_p.R393C|PHF15_uc003kzp.3_Missense_Mutation_p.R101C	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	393					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGACCCTGCGCAAGCAGCG	0.642												
EBF1	1879	broad.mit.edu	37	5	158523369	158523369	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:158523369G>T	uc010jip.3	-	2	639	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	EBF1_uc011ddw.2_5'UTR|EBF1_uc011ddx.2_Missense_Mutation_p.Q113K|EBF1_uc003lxl.4_Missense_Mutation_p.Q113K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	113					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGAGAAGCTGAAGCCGGTAG	0.592			T	HMGA2	lipoma							
WWC1	23286	broad.mit.edu	37	5	167841446	167841446	+	Silent	SNP	C	C	T	rs61730020	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:167841446C>T	uc003lzu.3	+	8	1128	c.1035C>T	c.(1033-1035)aaC>aaT	p.N345N	WWC1_uc003lzv.3_Silent_p.N345N|WWC1_uc011den.2_Silent_p.N345N|WWC1_uc003lzw.3_Silent_p.N144N	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	345					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCCTTATCAACGAGAAGGAGG	0.627												
TDP2	51567	broad.mit.edu	37	6	24666809	24666809	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:24666809C>T	uc003nej.3	-	1	221	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	TDP2_uc010jpu.1_Missense_Mutation_p.V66M|ACOT13_uc010jpv.3_5'Flank|ACOT13_uc003nek.3_5'Flank	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	66					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						CTCTCCTCCACCGGAGGCTCG	0.582								Direct reversal of damage				
UHRF1BP1	54887	broad.mit.edu	37	6	34839664	34839664	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:34839664G>A	uc003oju.4	+	19	4393	c.4159G>A	c.(4159-4161)Gtg>Atg	p.V1387M	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1387										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAAAGAACAGGTGTTTTTGGT	0.468												
TREML4	285852	broad.mit.edu	37	6	41196175	41196175	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:41196175G>A	uc003oqc.3	+	0	114	c.10G>A	c.(10-12)Ggt>Agt	p.G4S	TREML4_uc003oqd.3_5'Flank	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	4						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AATGGCCTGGGGTGGGGTCCA	0.597												
FAM83B	222584	broad.mit.edu	37	6	54804576	54804576	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:54804576T>G	uc003pck.3	+	4	923	c.807T>G	c.(805-807)ttT>ttG	p.F269L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	269										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGAGTCCTTTGATGAAGAAT	0.398												
ADAP1	11033	broad.mit.edu	37	7	959664	959664	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:959664C>T	uc003sjo.4	-	3	522	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	ADAP1_uc011jvs.2_Missense_Mutation_p.R15Q|ADAP1_uc003sjn.4_Missense_Mutation_p.R38Q|ADAP1_uc010ksc.3_Missense_Mutation_p.R38Q	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	110	Arf-GAP.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	p.R110Q(2)		endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTACTTGGCCCGGATCCACTG	0.682												
MAD1L1	8379	broad.mit.edu	37	7	2255803	2255803	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:2255803G>A	uc003slh.1	-	7	1064	c.798C>T	c.(796-798)agC>agT	p.S266S	MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.S266S|MAD1L1_uc003slg.1_Silent_p.S266S|MAD1L1_uc010ksh.1_Silent_p.S266S|MAD1L1_uc003sli.1_Silent_p.S174S|MAD1L1_uc010ksi.1_Silent_p.S219S|MAD1L1_uc010ksj.3_Silent_p.S266S	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	266					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCAGGTGCGCGCTCTCCTCCC	0.637												
ELMO1	9844	broad.mit.edu	37	7	36917679	36917679	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:36917679C>T	uc022abv.1	-	18	2468	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	ELMO1_uc003tfi.2_Silent_p.L106L|ELMO1_uc003tfj.2_Silent_p.L106L|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Silent_p.L490L|ELMO1_uc003tfk.2_Silent_p.L586L|ELMO1_uc010kxg.2_Silent_p.L586L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	586	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTCCGTAATGCAGGACTTTGT	0.453												
ELMO1	9844	broad.mit.edu	37	7	37172811	37172811	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:37172811G>A	uc022abv.1	-	13	1825	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	ELMO1_uc011kbc.2_Missense_Mutation_p.T276M|ELMO1_uc003tfk.2_Missense_Mutation_p.T372M|ELMO1_uc010kxg.2_Missense_Mutation_p.T372M	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	372	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.T372M(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGGAGTCTGCGTGAAGTCCAT	0.463												
DDC	1644	broad.mit.edu	37	7	50596925	50596925	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:50596925A>G	uc003tpg.4	-	4	752	c.551T>C	c.(550-552)gTg>gCg	p.V184A	DDC_uc022ade.1_Missense_Mutation_p.V106A|DDC_uc003tpf.4_Missense_Mutation_p.V184A|DDC_uc022adb.1_Missense_Mutation_p.V146A|DDC_uc022adc.1_Missense_Mutation_p.V184A|DDC_uc022add.1_Intron|DDC_uc022adf.1_Missense_Mutation_p.V184A|LOC100129427_uc022adg.1_5'Flank	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	184					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.V184V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGAGTAAGCCACCAGCTTCTC	0.547												
EGFR	1956	broad.mit.edu	37	7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:55221743A>C	uc003tqk.3	+	6	1033	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_uc003tqh.3_Missense_Mutation_p.T263P|EGFR_uc003tqi.3_Missense_Mutation_p.T263P|EGFR_uc003tqj.3_Missense_Mutation_p.T263P|EGFR_uc022adm.1_Missense_Mutation_p.T263P|EGFR_uc010kzg.2_Missense_Mutation_p.T218P|EGFR_uc022adn.1_Missense_Mutation_p.T218P|EGFR_uc011kco.2_Missense_Mutation_p.T210P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T263P(8)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCAAGGACACCTGCCCCCC	0.577		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CACNA2D1	781	broad.mit.edu	37	7	81589046	81589046	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:81589046C>T	uc003uhr.1	-	36	3322	c.3066G>A	c.(3064-3066)gcG>gcA	p.A1022A	CACNA2D1_uc011kgy.1_Silent_p.A234A	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	1034						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAGTCTGCTCCGCTTGTATGA	0.368												
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:87214993G>A	uc003uiz.2	-	4	614	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_uc011khc.2_Missense_Mutation_p.R41C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	41					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R41H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTGAATAGCGAAACTAAAAA	0.378												
RUNDC3B	154661	broad.mit.edu	37	7	87280179	87280179	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:87280179C>A	uc003ujb.3	+	1	575	c.164C>A	c.(163-165)aCa>aAa	p.T55K	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.T55K|RUNDC3B_uc011khe.2_Missense_Mutation_p.T55K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.T55K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	55										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGCTTTGAGACAATTGATGAT	0.338												
PON1	5444	broad.mit.edu	37	7	94937424	94937424	+	Silent	SNP	A	A	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:94937424A>T	uc003uns.3	-	5	694	c.597T>A	c.(595-597)ggT>ggA	p.G199G	PON1_uc011kih.2_Silent_p.G199G	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	199					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.L198fs*3(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACCACGCTAAACCCAAATACA	0.418												
LRCH4	4034	broad.mit.edu	37	7	100175848	100175848	+	Silent	SNP	G	G	A	rs150987161	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:100175848G>A	uc003uvj.3	-	6	935	c.882C>T	c.(880-882)taC>taT	p.Y294Y	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	294					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCACCATCGTACCGATGTC	0.597												
PCOLCE	5118	broad.mit.edu	37	7	100201641	100201641	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:100201641C>T	uc003uvo.3	+	2	462	c.264C>T	c.(262-264)ccC>ccT	p.P88P	LOC100129845_uc011kjy.2_Non-coding_Transcript|LOC100129845_uc022air.1_5'Flank|PCOLCE_uc011kkb.1_Silent_p.P88P	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	88	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.H87P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCTGCACCCCGCCTGCCGCT	0.672												
SH2D4A	63898	broad.mit.edu	37	8	19190497	19190497	+	Silent	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:19190497A>G	uc003wzc.3	+	2	521	c.213A>G	c.(211-213)ggA>ggG	p.G71G	SH2D4A_uc003wzb.3_Silent_p.G71G|SH2D4A_uc011kym.2_Silent_p.G26G	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	71						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGAAACTTGGAGCTGATAAGG	0.408												
CPSF1	29894	broad.mit.edu	37	8	145623823	145623823	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:145623823G>A	uc003zcj.3	-	18	1838	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	588					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCCTGCCCCGTCTGCAGGAT	0.672												
LRRC14	9684	broad.mit.edu	37	8	145745327	145745327	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:145745327G>A	uc003zdk.2	+	1	392	c.218G>A	c.(217-219)cGt>cAt	p.R73H	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.R73H	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	73										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACTGCAGCCGTGCCCTCCTG	0.627												
VLDLR	7436	broad.mit.edu	37	9	2643641	2643641	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:2643641C>T	uc003zhk.1	+	5	1231	c.834C>T	c.(832-834)tgC>tgT	p.C278C	VLDLR_uc003zhl.1_Silent_p.C278C|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	278	LDL-receptor class A 7.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTCGAACTTGCCGACCTGACC	0.488												
FAM122A	116224	broad.mit.edu	37	9	71395730	71395730	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:71395730T>C	uc004agw.1	+	0	767	c.650T>C	c.(649-651)tTt>tCt	p.F217S	PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.	217										endometrium(1)|lung(2)	3						CCAAAGAGATTTTTCCAGGGC	0.453												
NFIL3	4783	broad.mit.edu	37	9	94172272	94172272	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:94172272C>T	uc022bjt.1	-	0	745	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	NFIL3_uc004arh.3_Missense_Mutation_p.G249R	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	249					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AAAGAATTCCCCATATAGTTT	0.498												
FGD3	89846	broad.mit.edu	37	9	95768391	95768391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:95768391C>T	uc004asz.2	+	5	1294	c.766C>T	c.(766-768)Cga>Tga	p.R256*	FGD3_uc004asw.2_Nonsense_Mutation_p.R256*|FGD3_uc004asx.2_Nonsense_Mutation_p.R256*|FGD3_uc004ata.3_Nonsense_Mutation_p.R59*	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	256	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAACTTTGACCGAGCCGTAGG	0.582												
HEMGN	55363	broad.mit.edu	37	9	100700360	100700360	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:100700360T>C	uc004axy.3	-	0	167	c.59A>G	c.(58-60)cAa>cGa	p.Q20R	HEMGN_uc004axz.3_Missense_Mutation_p.Q20R	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	20	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTCTCTTCTTGATGAGGGTC	0.423												
KLF4	9314	broad.mit.edu	37	9	110249362	110249362	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:110249362C>T	uc004bdh.3	-	2	1907	c.1286G>A	c.(1285-1287)gGc>gAc	p.G429D	KLF4_uc004bdf.2_Missense_Mutation_p.G354D|KLF4_uc022blk.1_Missense_Mutation_p.G70D|KLF4_uc004bdg.3_Missense_Mutation_p.G404D	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	438					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A429S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTAGGTTTTGCCGCAGCCCGC	0.602												
TPRN	286262	broad.mit.edu	37	9	140086816	140086816	+	Silent	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:140086816G>T	uc004clt.3	-	3	1967	c.1967_splice	c.e3-1	p.G656_splice	TPRN_uc004clu.3_Splice_Site_p.G656_splice	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	656					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						AGCTGGACAGGCCTGTGAATG	0.672												
OFD1	8481	broad.mit.edu	37	X	13786260	13786260	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:13786260G>C	uc004cvp.4	+	20	3204	c.2845G>C	c.(2845-2847)Gac>Cac	p.D949H	OFD1_uc004cvr.4_Missense_Mutation_p.D479H|OFD1_uc011mil.2_Missense_Mutation_p.D516H|OFD1_uc004cvq.4_Missense_Mutation_p.D772H|OFD1_uc010nen.3_Missense_Mutation_p.D947H|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.D908H|OFD1_uc004cvv.4_Missense_Mutation_p.D907H	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	949	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAATAAAAGACAAATCTGC	0.358												
HUWE1	10075	broad.mit.edu	37	X	53612010	53612010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:53612010G>A	uc004dsp.3	-	39	5365	c.4963C>T	c.(4963-4965)Cga>Tga	p.R1655*	HUWE1_uc004dsn.3_Nonsense_Mutation_p.R480*	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1655	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TATCTTCTTCGGCCTGCAGTG	0.502												
OGT	8473	broad.mit.edu	37	X	70777507	70777507	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:70777507C>A	uc004eaa.2	+	11	1825	c.1587C>A	c.(1585-1587)aaC>aaA	p.N529K	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.N519K|OGT_uc004eac.3_Missense_Mutation_p.N390K|OGT_uc004ead.3_Missense_Mutation_p.N148K	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	529					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.L528P(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GGCACGGCAACCTGTGCTTAG	0.368												
DRP2	1821	broad.mit.edu	37	X	100511129	100511129	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:100511129C>T	uc004egz.2	+	20	2638	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	DRP2_uc011mrh.1_Missense_Mutation_p.R679W	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	757					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTACCTGCTGCGGCACTCCAG	0.582												
COL4A5	1287	broad.mit.edu	37	X	107939578	107939578	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:107939578C>T	uc022ccg.1	+	52	5248	c.5046C>T	c.(5044-5046)agC>agT	p.S1682S	COL4A5_uc004enz.1_Silent_p.S1676S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1676	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CACGAATTAGCCGATGTCAAG	0.348									Alport syndrome with Diffuse Leiomyomatosis			
LONRF3	79836	broad.mit.edu	37	X	118145848	118145848	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:118145848T>A	uc004eqw.3	+	7	1754	c.1723T>A	c.(1723-1725)Ttt>Att	p.F575I	LONRF3_uc004eqx.3_Missense_Mutation_p.F534I|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.F319I	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	575	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGCACATCTTTGAGCCTTG	0.478												
FAM70A	55026	broad.mit.edu	37	X	119410766	119410766	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:119410766C>T	uc004eso.4	-	7	948	c.721G>A	c.(721-723)Gct>Act	p.A241T	FAM70A_uc004esp.4_Missense_Mutation_p.A217T|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	241						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CCAAGGACAGCGGCAGTGATG	0.527												
GLUD2	2747	broad.mit.edu	37	X	120181970	120181970	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:120181970G>A	uc004eto.3	+	0	509	c.432G>A	c.(430-432)acG>acA	p.T144T		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	144					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.R143C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCACCGCACGCCCTGCAAGG	0.572												
OCRL	4952	broad.mit.edu	37	X	128701326	128701326	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:128701326C>A	uc004euq.3	+	13	1617	c.1452C>A	c.(1450-1452)gaC>gaA	p.D484E	OCRL_uc004eur.3_Missense_Mutation_p.D484E	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	484					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTAAAACAGACCGGTGGGATT	0.393												
XPNPEP2	7512	broad.mit.edu	37	X	128887224	128887224	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:128887224C>T	uc004eut.1	+	11	1351	c.1107_splice	c.e11+1	p.H369_splice		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	369					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCCAGCCACGTAAGTCCAC	0.537												
SAGE1	55511	broad.mit.edu	37	X	134989538	134989538	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:134989538T>G	uc004ezh.3	+	8	1111	c.944T>G	c.(943-945)gTa>gGa	p.V315G	SAGE1_uc010nry.1_Missense_Mutation_p.V284G|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	315										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCTAATAACGTATTGTCAACT	0.408