Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PDZRN4	29951	broad.mit.edu	37	12	41967467	41967467	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:41967467C>A	uc010skn.2	+	9	2894	c.2886C>A	c.(2884-2886)ttC>ttA	p.F962L	PDZRN4_uc001rmq.4_Missense_Mutation_p.F704L|PDZRN4_uc009zjz.3_Missense_Mutation_p.F702L|PDZRN4_uc001rmr.3_Missense_Mutation_p.F589L	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	962							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCCGTGAGTTCATGATGCGAA	0.517000														81			12		0.000151284	0.000154372	1	1	0
SLC18B1	116843	broad.mit.edu	37	6	133105219	133105219	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr6:133105219C>G	uc003qdw.1	-	5	663	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	SLC18B1_uc011eco.1_Missense_Mutation_p.E45Q	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	Homo sapiens chromosome 6 open reading frame 192 (C6orf192), mRNA.	171					transmembrane transport	integral to membrane											GAAAAAGTCTCAAGACTTCCC	0.333000														49			9		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	33647509	33647509	+	RNA	SNP	C	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr16:33647509C>A	uc010vga.2	-	0		c.34G>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		CCAGGCTGTACCAAGCCTCCC	0.562000														208			22		1.66031e-10	1.93059e-10	1	1	0
RNF167	26001	broad.mit.edu	37	17	4845935	4845935	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:4845935C>T	uc002fzs.3	+	4	804	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	SLC25A11_uc002fzp.2_5'Flank|SLC25A11_uc002fzo.2_5'Flank|SLC25A11_uc021tod.1_5'Flank|SLC25A11_uc021toe.1_5'Flank|RNF167_uc002fzw.2_Missense_Mutation_p.L119F|RNF167_uc002fzu.3_Missense_Mutation_p.L119F|RNF167_uc002fzy.3_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	Homo sapiens ring finger protein 167 (RNF167), mRNA.	119	PA.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						TTCCAATGAACTTCTGAACAT	0.512000														4			39		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119142	3119142	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr16:3119142G>A	uc002ctq.3	+	5	586	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	IL32_uc002ctn.3_Missense_Mutation_p.R118Q|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Missense_Mutation_p.R164Q|IL32_uc010uwp.2_Missense_Mutation_p.R98Q|IL32_uc010btb.3_Missense_Mutation_p.R108Q|IL32_uc002ctl.3_Missense_Mutation_p.R118Q|IL32_uc002ctm.3_Missense_Mutation_p.R118Q|IL32_uc002ctp.3_Missense_Mutation_p.R98Q|IL32_uc002ctr.3_Missense_Mutation_p.R98Q|IL32_uc002ctt.3_Missense_Mutation_p.R118Q|IL32_uc010uwr.2_Missense_Mutation_p.R78Q|IL32_uc002ctu.3_Missense_Mutation_p.R109Q|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	164					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						ATGCTGCAGCGGCTGCAGACC	0.602000														200			52		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	A	A	rs28934574		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				3			28		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240728	60240728	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr13:60240728C>T	uc001vht.3	-	27	3791	c.3572G>A	c.(3571-3573)cGa>cAa	p.R1191Q	DIAPH3_uc001vhs.3_Non-coding_Transcript	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	1191					actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTATAAAGCTCGTAATCTTGC	0.323000														71			5		0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654433	61654433	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr18:61654433C>A	uc002ljv.3	+	6	1215	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	SERPINB8_uc002lju.3_Missense_Mutation_p.A349E|SERPINB8_uc010xex.2_Missense_Mutation_p.A167E	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	349					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGATTCTGTGCAGACCACCCT	0.512000														98			34		3.62531e-18	4.42111e-18	1	1	0
KIAA0753	9851	broad.mit.edu	37	17	6515464	6515464	+	Silent	SNP	C	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:6515464C>T	uc002gde.4	-	7	1679	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	KIAA0753_uc010vtd.2_Intron|KIAA0753_uc010clo.3_Silent_p.K141K|KIAA0753_uc010vte.2_Silent_p.K141K	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	440						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CGGGCTGATACTTATCTACAT	0.393000														40			26		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79039710	79039710	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:79039710G>A	uc003kgc.3	+	2	10771	c.10699G>A	c.(10699-10701)Gtt>Att	p.V3567I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3567	B-box coiled-coil; BBC.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAAGCCTTTGTTAGTGAGAT	0.318000														84			23		0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46784475	46784475	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:46784475G>T	uc010hjl.3	-	2	416	c.381C>A	c.(379-381)ttC>ttA	p.F127L	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	159	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CTGGGGGGAAGAAGGACTTCT	0.532000														95			16		1.56452e-12	1.86253e-12	1	1	0
ATAD3C	219293	broad.mit.edu	37	1	1391260	1391260	+	Silent	SNP	C	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:1391260C>T	uc001aft.2	+	5	1523	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	176							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCTGCTGTACGGGCCACCAG	0.627000														27			41		0	0	1	0	0
NEUROG1	4762	broad.mit.edu	37	5	134871070	134871070	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:134871070C>A	uc003lax.3	-	0	570	c.311G>T	c.(310-312)cGc>cTc	p.R104L		NM_006161	NP_006152	Q92886	NGN1_HUMAN	Homo sapiens neurogenin 1 (NEUROG1), mRNA.	104					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTGTGCATGCGGTTGCGCTC	0.711000														65			12		7.93312e-07	8.81458e-07	1	1	0
FAM75D3	389762	broad.mit.edu	37	9	84562780	84562780	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:84562780G>A	uc010mpt.2	+	3	2698	c.2612G>A	c.(2611-2613)cGa>cAa	p.R871Q	AK097447_uc004ami.1_Intron|DQ577940_uc004amm.1_5'Flank	NM_207416	NP_997299	P0C874	YI039_HUMAN	Homo sapiens family with sequence similarity 75, member D3 (FAM75D3), mRNA.	871						integral to membrane											ATTAAACATCGAAATTTGGCA	0.458000														335			13		0	0	1	0	0
MED21	9412	broad.mit.edu	37	12	27179446	27179446	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:27179446C>A	uc001rhp.1	+	1	166	c.136C>A	c.(136-138)Cag>Aag	p.Q46K	MED21_uc009zjh.1_Intron	NM_004264	NP_004255	Q13503	MED21_HUMAN	Homo sapiens mediator complex subunit 21 (MED21), mRNA.	46					positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity					Colorectal(261;0.0847)					TAACAAAGACCAGCCAGCTAA	0.373000														198			7		1.12685e-05	1.19878e-05	1	1	0
NOVA2	4858	broad.mit.edu	37	19	46443970	46443970	+	Silent	SNP	G	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:46443970G>A	uc002pdv.2	-	3	678	c.630C>T	c.(628-630)ctC>ctT	p.L210L		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	210						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		AGCTGATGTTGAGGCAGCTGC	0.687000														31			6		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996604	73996604	+	Missense_Mutation	SNP	G	A	A	rs150186392	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr15:73996604G>A	uc002avv.1	+	5	1394	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	CD276_uc010bjd.1_Missense_Mutation_p.R241Q|CD276_uc002avu.1_Missense_Mutation_p.R387Q|CD276_uc002avw.1_Missense_Mutation_p.R169Q|CD276_uc010ulb.1_Missense_Mutation_p.R333Q	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	387	Ig-like C2-type 2.			R -> Q (in Ref. 3; AAQ88709).	T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding	p.R387Q(2)		endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCCAGCTACCGGGGCTACCCT	0.637000														151			29		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053758	11053758	+	Silent	SNP	C	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:11053758C>T	uc002rax.3	+	0	1696	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	402						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCTGCCCATCCACCCCATCA	0.597000														6			41		0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45368669	45368669	+	Missense_Mutation	SNP	C	T	T	rs111808500		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr19:45368669C>T	uc002ozw.1	+	1	620	c.230C>T	c.(229-231)gCg>gTg	p.A77V	PVRL2_uc002ozv.3_Missense_Mutation_p.A77V	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	77	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GATGCACCTGCGAACCACCAG	0.662000														134			14		0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99342111	99342111	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:99342111C>T	uc001knw.3	+	6	984	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	PI4K2A_uc001knx.2_5'Flank|PI4K2A_uc001kny.3_5'Flank|PI4K2A_uc001knz.3_5'Flank|PI4K2A_uc010qoy.1_5'Flank|ANKRD2_uc009xvu.3_Intron	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA.	259					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CCGGACAGGGCAGGTGGAGAT	0.612000														27			4		0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133851655	133851655	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:133851655C>T	uc003ytt.3	+	17	2540	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	PHF20L1_uc011lja.2_Missense_Mutation_p.R713C	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	739							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGCAAAATATCGTTATGATAA	0.368000														203			4		0	0	1	0	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861260	27861260	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr6:27861260C>G	uc003nkc.1	+	0	58	c.20C>G	c.(19-21)tCt>tGt	p.S7C	HIST1H3J_uc003nka.3_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	NM_003527	NP_003518	P23527	H2B1O_HUMAN	Homo sapiens histone cluster 1, H2bo (HIST1H2BO), mRNA.	7					nucleosome assembly	nucleosome|nucleus	DNA binding										CCGGCTAAATCTGCTCCTGCC	0.498000														41			4		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162697068	162697068	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:162697068C>T	uc003iqh.3	-	4	1004	c.568G>A	c.(568-570)Gac>Aac	p.D190N	FSTL5_uc003iqi.3_Missense_Mutation_p.D189N|FSTL5_uc010iqv.3_Missense_Mutation_p.D189N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	190	EF-hand 1.					extracellular region	calcium ion binding	p.D190V(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCATTACTGTCTGCATCAAAA	0.289000														185			146		0	0	1	0	0
SRGN	5552	broad.mit.edu	37	10	70863802	70863802	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr10:70863802T>C	uc001joz.3	+	2	489	c.403T>C	c.(403-405)Tct>Cct	p.S135P	SRGN_uc021prx.1_Missense_Mutation_p.S79P	NM_002727	NP_002718	P10124	SRGN_HUMAN	Homo sapiens serglycin (SRGN), transcript variant 1, mRNA.	135					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						CAACCTTAGGTCTCTTGACAG	0.463000														64			4		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159504971	159504971	+	Missense_Mutation	SNP	G	A	A	rs149096656	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:159504971G>A	uc010piw.2	-	0	827	c.827C>T	c.(826-828)aCg>aTg	p.T276M		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GATGGTGTACGTCACTGAGAG	0.463000														7			89		0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129025737	129025737	+	Nonstop_Mutation	SNP	T	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:129025737T>A	uc002tpt.4	-	1	1269	c.1235A>T	c.(1234-1236)tAg>tTg	p.*412L		NM_004807	NP_004798	O60243	H6ST1_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.	0					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCACCGCCACTACCACTTCTC	0.642000														23			4		0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133507382	133507382	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:133507382A>G	uc004bzr.1	+	14	1514	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	469					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCCAAGGTGAATGGGAACCCC	0.552000														64			40		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113543595	113543595	+	Missense_Mutation	SNP	G	A	A	rs149732792		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:113543595G>A	uc001tun.2	-	16	2058	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M	RASAL1_uc010syp.2_Missense_Mutation_p.T585M|RASAL1_uc001tul.3_Missense_Mutation_p.T584M|RASAL1_uc001tum.2_Missense_Mutation_p.T584M|RASAL1_uc010syq.2_Missense_Mutation_p.T585M|RASAL1_uc001tuo.4_Missense_Mutation_p.T585M	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	584	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGCAAAGCGCGTGGCCAGGCC	0.627000														46			18		0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56319289	56319289	+	Nonsense_Mutation	SNP	C	A	A	rs1056478		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:56319289C>A	uc003haz.1	-	15	2064	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	CLOCK_uc003hba.1_Nonsense_Mutation_p.E380*	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	380			E -> K (in dbSNP:rs1056478).		circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GCCCTAACTTCTGCATAACTA	0.338000														196			59		4.37588e-27	5.46985e-27	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38739683	38739683	+	Silent	SNP	G	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:38739683G>T	uc003ciq.3	-	26	5028	c.5028C>A	c.(5026-5028)ccC>ccA	p.P1676P		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1676					sensory perception	voltage-gated sodium channel complex		p.Y1677fs*21(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGTCACAGTAGGGGGGCCCTG	0.592000														147			12		7.03913e-09	7.99901e-09	1	1	0
FSTL4	23105	broad.mit.edu	37	5	132534972	132534972	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:132534972C>A	uc003kyn.1	-	15	2562	c.2344G>T	c.(2344-2346)Gca>Tca	p.A782S	FSTL4_uc003kym.1_Missense_Mutation_p.A431S	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	782						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGCCCTGCGGGTGGCTCC	0.602000														115			18		7.07596e-05	7.37079e-05	1	1	0
CDK11B	984	broad.mit.edu	37	1	1647844	1647844	+	Silent	SNP	G	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:1647844G>A	uc001agv.1	-	5	512	c.429C>T	c.(427-429)cgC>cgT	p.R143R	CDK11B_uc001ags.1_5'UTR|CDK11B_uc001agt.1_5'UTR|CDK11B_uc001aha.1_Silent_p.R109R|CDK11B_uc001agw.1_Silent_p.R93R|CDK11B_uc001agy.1_Silent_p.R127R|CDK11B_uc001agx.1_Silent_p.R127R|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc009vkr.3_Silent_p.R133R|CDK11B_uc009vks.3_Silent_p.R143R|CDK11B_uc010nys.2_Silent_p.R133R|CDK11B_uc010nyt.1_Silent_p.R143R|CDK11B_uc010nyu.1_Non-coding_Transcript|CDK11B_uc009vkt.1_Silent_p.R133R|CDK11B_uc009vku.1_Silent_p.R133R|CDK11B_uc009vkv.1_Silent_p.R143R|CDK11B_uc001aht.1_Silent_p.R133R|CDK11B_uc001ahu.1_Silent_p.R133R|CDK11B_uc001ahv.1_Silent_p.R143R|CDK11B_uc001ahw.1_Silent_p.R143R	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	145	Glu-rich.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CCCATTCCCGGCGAGCTTTAT	0.483000														154			6		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53073958	53073958	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr12:53073958C>G	uc001sau.1	-	0	234	c.175G>C	c.(175-177)Ggt>Cgt	p.G59R	KRT1_uc001sav.1_Missense_Mutation_p.G59R	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	59	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						AATccaccaccagcaccaaag	0.557000														230			90		0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29956774	29956774	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr22:29956774C>T	uc003afx.4	-	7	910	c.655G>A	c.(655-657)Ggc>Agc	p.G219S	NIPSNAP1_uc011akp.2_Missense_Mutation_p.G199S	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	219								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						AAGAAGCCGCCCACTGCCTCC	0.562000														30			19		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940146	218940146	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr2:218940146G>C	uc010fvl.2	+	8	1449	c.931G>C	c.(931-933)Ggg>Cgg	p.G311R	RUFY4_uc002vgw.3_Missense_Mutation_p.G138R	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	311							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGGTGATAGGGATGGAGGC	0.572000														48			45		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123254584	123254584	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:123254584G>C	uc003vku.1	+	3	320	c.28G>C	c.(28-30)Gac>Cac	p.D10H	ASB15_uc003vkv.1_Missense_Mutation_p.D10H|ASB15_uc003vkw.1_Missense_Mutation_p.D10H	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	10					intracellular signal transduction			p.E9K(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCCTGATGAAGACCATCTTAC	0.358000														39			35		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139674282	139674282	+	Silent	SNP	G	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:139674282G>A	uc003yvd.3	-	42	3678	c.3231C>T	c.(3229-3231)gcC>gcT	p.A1077A	COL22A1_uc011ljo.2_Silent_p.A357A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1077	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGTCCCGGCCGGCTGGGCCCT	0.542000										HNSCC(7;0.00092)				65			36		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141626	133141626	+	Silent	SNP	G	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:133141626G>A	uc003ytj.3	-	14	2727	c.2502C>T	c.(2500-2502)gcC>gcT	p.A834A	KCNQ3_uc003yti.3_Silent_p.A714A|KCNQ3_uc010mdt.3_Silent_p.A822A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	834					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A834T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCTCACCCTCGGCGAGGTACC	0.592000														73			49		0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27763289	27763289	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:27763289T>C	uc003cdy.3	-	0	497	c.497A>G	c.(496-498)cAg>cGg	p.Q166R	EOMES_uc003cdx.3_Missense_Mutation_p.Q166R|EOMES_uc010hfn.2_Missense_Mutation_p.Q166R|EOMES_uc011axc.1_Intron	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	166					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGCCGCCGCCTGGTACGGGAA	0.721000														12			3		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73657758	73657758	+	Silent	SNP	C	G	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:73657758C>G	uc003dpl.1	-	1	897	c.801G>C	c.(799-801)cgG>cgC	p.R267R		NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	267	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCACACTCGGCCGGCCACCAA	0.473000														59			55		0	0	1	0	0
SCT	6343	broad.mit.edu	37	11	626499	626499	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:626499G>T	uc001lqo.1	-	3	328	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	CDHR5_uc001lqj.3_5'Flank|CDHR5_uc009ycd.3_5'Flank|CDHR5_uc001lqk.3_5'Flank|CDHR5_uc009ycc.3_5'Flank|CDHR5_uc001lql.3_5'Flank|CDHR5_uc001lqm.2_5'Flank|CDHR5_uc009yce.1_5'Flank|CDHR5_uc001lqn.1_5'Flank	NM_021920	NP_068739	P09683	SECR_HUMAN	Homo sapiens secretin (SCT), mRNA.	100					pancreatic juice secretion	extracellular region	hormone activity						all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.17e-27)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGGGGCAGCCAGGGAGAC	0.677000														344			97		1.94648e-57	2.56116e-57	1	1	0
USP14	9097	broad.mit.edu	37	18	211193	211193	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr18:211193G>T	uc002kkf.1	+	15	1610	c.1394G>T	c.(1393-1395)cGg>cTg	p.R465L	USP14_uc002kkg.1_Missense_Mutation_p.R430L|USP14_uc010wyr.1_Missense_Mutation_p.R454L	NM_005151	NP_005142	P54578	UBP14_HUMAN	Homo sapiens ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) (USP14), transcript variant 1, mRNA.	465					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GATATCTTACGGCTTTCTGGT	0.393000														85			67		5.82419e-33	7.46691e-33	1	1	0
RBMXL1	494115	broad.mit.edu	37	1	89449440	89449440	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr1:89449440G>T	uc021opo.1	-	0	70	c.70C>A	c.(70-72)Ctt>Att	p.L24I	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.L24I|RBMXL1_uc001dms.3_Missense_Mutation_p.L24I	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	24	RRM.						RNA binding|nucleotide binding										ACTGTTTCAAGAGCTTTCTCA	0.413000											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		369			8		1.12685e-05	1.19878e-05	1	1	0
HEMGN	55363	broad.mit.edu	37	9	100693400	100693400	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:100693400C>T	uc004axy.3	-	2	385	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	HEMGN_uc004axz.3_Missense_Mutation_p.E93K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	93					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)				ATTTCCTTTTCTATCTGTGGC	0.443000														126			4		0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80049325	80049325	+	Silent	SNP	G	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:80049325G>A	uc004aku.3	-	2	946	c.423C>T	c.(421-423)taC>taT	p.Y141Y		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	141					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCCTCCTGTCGTAACACTCCT	0.582000											OREG0019263	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			47		0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421548	150421548	+	Silent	SNP	T	C	C	rs146394127	byFrequency	TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:150421548T>C	uc003eyg.3	-	0	195	c.138A>G	c.(136-138)gaA>gaG	p.E46E	FAM194A_uc003eyh.3_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	46	Glu-rich.							p.E46E(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						cctccacctcttcctcctcct	0.607000														55			5		0	0	1	0	0
LOX	4015	broad.mit.edu	37	5	121413160	121413160	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:121413160G>A	uc003ksu.3	-	0	896	c.521C>T	c.(520-522)cCc>cTc	p.P174L	LOX_uc010jcq.3_5'Flank|LOX_uc010jcr.3_5'Flank|LOX_uc011cwk.2_5'Flank	NM_002317	NP_002308	P28300	LYOX_HUMAN	Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.	174					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GTACTTGTAGGGGTTGTAAGG	0.612000														69			16		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880909	70880909	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:70880909C>A	uc003tvy.3	+	3	624	c.624C>A	c.(622-624)caC>caA	p.H208Q	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	208	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGTATGTCCACAAACGCTACC	0.512000														96			4		0.000602214	0.000602214	1	1	0
APCDD1	147495	broad.mit.edu	37	18	10485688	10485688	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr18:10485688A>G	uc002kom.4	+	3	1358	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	335					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CCGGTGTGCAAGCACCCCACC	0.607000														86			4		0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755708	49755708	+	Silent	SNP	G	A	A			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:49755708G>A	uc003cxj.3	-	0	1531	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	397					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGAGCAGCACGAGCACAAGGC	0.682000														44			11		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129290413	129290414	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr3:129290413_129290414insC	uc003emx.2	-	16	3374_3375	c.3274_3275insG	c.(3274-3276)gagfs	p.E1092fs		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1092	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTGGAAACGCTCACCAGCCACT	0.658													---	240	---	---	11	---					
KCTD8	386617	broad.mit.edu	37	4	44177044	44177044	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr4:44177044delT	uc003gwu.3	-	1	1469	c.1185delA	c.(1183-1185)aaafs	p.K395fs		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	395						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTACAGGTGCTTTTTTAGAGG	0.502										HNSCC(17;0.042)			---	347	---	---	8	---					
DIAPH1	1729	broad.mit.edu	37	5	140907261	140907261	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr5:140907261delG	uc003llb.4	-	23	3293	c.3152delC	c.(3151-3153)tctfs	p.S1051fs	DIAPH1_uc011dbd.2_5'Flank|DIAPH1_uc003llc.4_Frame_Shift_Del_p.S1042fs|DIAPH1_uc021yep.1_Frame_Shift_Del_p.S1051fs|DIAPH1_uc021yeq.1_Frame_Shift_Del_p.S1042fs|DIAPH1_uc010jgc.1_Frame_Shift_Del_p.S487fs	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	1051	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTCAGCAGAAACTaaaaa	0.358													---	120	---	---	7	---					
ARHGEF5	7984	broad.mit.edu	37	7	144062428	144062428	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr7:144062428delT	uc003wel.3	+	1	2784	c.2666delT	c.(2665-2667)ctcfs	p.L889fs	ARHGEF5_uc003wek.3_Frame_Shift_Del_p.L889fs|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	889					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.L889P(2)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					ACAGTCCCCCTCCCTGCCTCT	0.597													---	531	---	---	8	---					
MTMR9	66036	broad.mit.edu	37	8	11162509	11162509	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:11162509delA	uc003wtm.3	+	3	975	c.577delA	c.(577-579)aaafs	p.K193fs	MTMR9_uc010lrx.3_Frame_Shift_Del_p.K86fs|MTMR9_uc011kxa.2_Frame_Shift_Del_p.K108fs	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	193	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTATTACCACAAAAAAAATGG	0.453													---	154	---	---	8	---					
CPNE3	8895	broad.mit.edu	37	8	87558847	87558847	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr8:87558847delA	uc003ydv.2	+	9	919	c.757delA	c.(757-759)aaafs	p.K253fs	CPNE3_uc003ydw.1_5'Flank	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	253					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CATAAATGAGAAAAAAAGGCA	0.308													---	515	---	---	7	---					
DOCK8	81704	broad.mit.edu	37	9	405015	405015	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr9:405015delT	uc003zgf.2	+	26	3444	c.3332delT	c.(3331-3333)cttfs	p.L1111fs	DOCK8_uc022bcu.1_Frame_Shift_Del_p.L1043fs|DOCK8_uc010mgv.3_Frame_Shift_Del_p.L1011fs|DOCK8_uc010mgu.3_Frame_Shift_Del_p.L413fs|DOCK8_uc010mgw.2_Frame_Shift_Del_p.L413fs|DOCK8_uc003zgk.2_Frame_Shift_Del_p.L569fs	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1111					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AATCTGAACCTTTTTTTTATG	0.393													---	196	---	---	10	---					
MUC5B	727897	broad.mit.edu	37	11	1264078	1264079	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:1264078_1264079insC	uc001lta.3	+	30	6027_6028	c.5968_5969insC	c.(5968-5970)accfs	p.T1990fs		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1990	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCCTGGGCACCACCTGGACC	0.629													---	386	---	---	13	---					
LUZP2	338645	broad.mit.edu	37	11	24936024	24936024	+	Frame_Shift_Del	DEL	A	-	-	rs140841896		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:24936024delA	uc001mqs.3	+	6	736	c.462delA	c.(460-462)tcafs	p.S154fs	LUZP2_uc009yif.3_Frame_Shift_Del_p.S68fs|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	154						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCTTACAGTCAAAAAAAATCC	0.348													---	232	---	---	7	---					
METTL15	196074	broad.mit.edu	37	11	28232627	28232627	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:28232627delT	uc001msh.2	+	3	744	c.289delT	c.(289-291)tttfs	p.F97fs	METTL15_uc001msg.2_Frame_Shift_Del_p.F97fs|METTL15_uc001mse.2_Frame_Shift_Del_p.F97fs	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	Homo sapiens methyltransferase like 15 (METTL15), transcript variant 1, mRNA.	97							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGATATGACATTTGGTTCGGG	0.373													---	173	---	---	45	---					
CCDC73	493860	broad.mit.edu	37	11	32637520	32637520	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr11:32637520delT	uc001mtv.3	-	14	1385	c.1341delA	c.(1339-1341)aaafs	p.K447fs	CCDC73_uc001mtw.1_Frame_Shift_Del_p.K437fs	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	447										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATGAGCCTTCTTTTTTTTCTT	0.249													---	207	---	---	7	---					
LOC100499466	100499466	broad.mit.edu	37	17	66122126	66122126	+	RNA	DEL	T	-	-	rs71354096		TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr17:66122126delT	uc002jgq.3	+	5		c.1249delT								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TTACAGGttcttttttttttt	0.388													---	5	---	---	3	---					
GTPBP5	26164	broad.mit.edu	37	20	60774224	60774225	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8339-01A-11D-2310-10	TCGA-KL-8339-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88432832-7a50-48df-90d5-3a5b7e1f5595	cbaafe8b-1636-4107-aa92-de83895cabff	g.chr20:60774224_60774225insC	uc002yce.4	+	5	775_776	c.737_738insC	c.(736-738)aacfs	p.N246fs	GTPBP5_uc011aaf.2_Intron|GTPBP5_uc011aab.2_Frame_Shift_Ins_p.N18fs|GTPBP5_uc011aac.2_Frame_Shift_Ins_p.N18fs|GTPBP5_uc011aad.2_Frame_Shift_Ins_p.N18fs|GTPBP5_uc011aae.2_Frame_Shift_Ins_p.N18fs	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA.	246	G.|Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)	15	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			GCCATTTCAAACGCCAGACCCG	0.614													---	71	---	---	9	---					
