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
CALD1	800	broad.mit.edu	37	7	134617794	134617794	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:134617794G>T	uc003vrz.3	+	4	740	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	CALD1_uc003vry.3_Missense_Mutation_p.D92Y|CALD1_uc003vsb.3_Missense_Mutation_p.D92Y|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Missense_Mutation_p.D92Y|CALD1_uc003vsc.3_Missense_Mutation_p.D86Y|CALD1_uc003vsd.3_Missense_Mutation_p.D86Y|CALD1_uc011kpu.2_Missense_Mutation_p.D97Y|CALD1_uc011kpv.2_5'UTR|CALD1_uc003vse.3_5'UTR	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	92	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GGAAGGGGATGATGAGGCCGC	0.542000														50			30		1.21669e-08	1.26175e-08	1	1	0
FAM184A	79632	broad.mit.edu	37	6	119345242	119345242	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:119345242C>T	uc003pyj.3	-	1	1244	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	FAM184A_uc003pyk.4_Missense_Mutation_p.R179Q|FAM184A_uc003pyl.4_Missense_Mutation_p.R179Q	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	299										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TATAGTTTTTCGTAAAATTGC	0.393000														36			71		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46661608	46661608	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:46661608C>T	uc003oyj.3	+	0	5997	c.5743C>T	c.(5743-5745)Cct>Tct	p.P1915S	TDRD6_uc010jze.3_Missense_Mutation_p.P1915S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1915					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGCCCAGCTGCCTTTAGATGA	0.458000														116			4		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770165	31770165	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:31770165C>A	uc002nsy.4	-	1	599	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	178					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGTGACACCTGCTGCAGCG	0.637000														91			65		4.08933e-50	4.77089e-50	1	1	0
TP53	7157	broad.mit.edu	37	17	7577018	7577018	+	Splice_Site	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:7577018C>T	uc002gim.2	-	8	1113	c.919_splice	c.e8+1	p.A307_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.A307_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice|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.	307	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).		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.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)		TGCTTGCTTACCTCGCTTAGT	0.562000		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)				10			34		0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242178175	242178175	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:242178175T>C	uc002waz.3	-	19	2811	c.2638A>G	c.(2638-2640)Ata>Gta	p.I880V	HDLBP_uc002wba.3_Missense_Mutation_p.I880V|HDLBP_uc021vzg.1_Missense_Mutation_p.I847V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	880	KH 10.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTCTGGGGTATAGCACATTCT	0.423000														12			44		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628786	41628786	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41628786C>A	uc002opu.1	+	6	938	c.882C>A	c.(880-882)aaC>aaA	p.N294K	CYP2F1_uc021uuv.1_Missense_Mutation_p.N80K|CYP2F1_uc010xvv.1_Missense_Mutation_p.N294K|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	294					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCACACATAACCTGCTCTTTG	0.572000														36			24		7.26314e-15	7.82184e-15	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109691641	109691641	+	Silent	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:109691641G>A	uc004bcz.3	+	2	5737	c.5448G>A	c.(5446-5448)gaG>gaA	p.E1816E	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.E1664E|ZNF462_uc004bda.3_Silent_p.E1664E	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1816					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATGAGCATGAGAAGCCCACAC	0.552000														84			16		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100234996	100234996	+	Silent	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:100234996G>A	uc003hus.4	-	5	894	c.810C>T	c.(808-810)atC>atT	p.I270I	ADH1B_uc003hut.4_Silent_p.I230I|ADH1B_uc011ceh.2_Silent_p.I115I|ADH1B_uc011cei.1_Silent_p.I230I	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	270					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.V269V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAAGCCGACCGATGACTTCAA	0.438000														321			7		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375944	113375944	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:113375944G>C	uc003eam.3	-	6	4996	c.4585C>G	c.(4585-4587)Cag>Gag	p.Q1529E	KIAA2018_uc003eal.3_Missense_Mutation_p.Q1473E	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1529	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGGGTGCCCTGAACAAGATTC	0.517000														242			55		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37006030	37006030	+	Silent	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:37006030G>A	uc002oee.2	-	3	1033	c.111C>T	c.(109-111)agC>agT	p.S37S	ZNF260_uc010eey.2_Silent_p.S37S|ZNF260_uc002oef.2_Silent_p.S37S|ZNF260_uc002oed.2_Silent_p.S37S|ZNF260_uc021uti.1_Silent_p.S37S	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	37					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTTGCTTCAGGCTAAAAGTTT	0.373000														95			66		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49175930	49175930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:49175930G>A	uc001ngy.3	-	15	1999	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	FOLH1_uc001ngx.3_Nonsense_Mutation_p.R12*|FOLH1_uc009yly.3_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.3_Nonsense_Mutation_p.R565*|FOLH1_uc001ngz.3_Nonsense_Mutation_p.R580*|FOLH1_uc009yma.3_Nonsense_Mutation_p.R272*	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	580	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCCCTCCTCGAACCTGGGCC	0.413000														231			181		0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104171822	104171822	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr12:104171822T>C	uc010swe.1	-	13	1473	c.1432A>G	c.(1432-1434)Agc>Ggc	p.S478G		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	478							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CGGAACAGGCTTCCAAACTGG	0.453000														129			4		0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6460652	6460652	+	Silent	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:6460652C>T	uc003zjy.3	+	3	1064	c.724C>T	c.(724-726)Cta>Tta	p.L242L	UHRF2_uc003zjz.3_Non-coding_Transcript|UHRF2_uc003zka.1_Silent_p.L19L	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.	242	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGGAATGAACTAAATGTTGG	0.378000														105			3		0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77759511	77759511	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:77759511G>A	uc001dhn.3	+	2	618	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	AK5_uc001dho.3_Missense_Mutation_p.R68Q|AK5_uc001dhm.2_Intron	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	94					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.R93W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCATATCGGCGGTATGACCGG	0.398000														33			88		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20698214	20698214	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:20698214G>A	uc010kuh.3	+	13	1859	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ABCB5_uc003suw.4_Missense_Mutation_p.R96Q|ABCB5_uc003suv.4_Missense_Mutation_p.R96Q|ABCB5_uc011jyi.1_Missense_Mutation_p.R96Q	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	96					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCCTTAGTTCGAAACCCCAAG	0.438000														102			4		0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41384783	41384783	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41384783A>T	uc002opm.3	-	4	1255	c.713T>A	c.(712-714)tTt>tAt	p.F238Y	CYP2A7_uc002opo.3_Missense_Mutation_p.F238Y|CYP2A7_uc002opn.3_Missense_Mutation_p.F187Y	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	238						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CAGCAACTTAAAGGCCTGTTG	0.542000														233			7		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22675803	22675803	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:22675803C>T	uc001iri.3	+	4	760	c.593C>T	c.(592-594)tCt>tTt	p.S198F	SPAG6_uc010qct.2_Missense_Mutation_p.S173F|SPAG6_uc009xkh.3_Missense_Mutation_p.S176F|SPAG6_uc001irj.3_Missense_Mutation_p.S198F|SPAG6_uc021poe.1_5'UTR	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	198					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GCAAAGCATTCTCCAGAGTTA	0.443000														65			3		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689044	109689044	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:109689044G>A	uc004bcz.3	+	2	3140	c.2851G>A	c.(2851-2853)Gtg>Atg	p.V951M	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.V799M|ZNF462_uc004bda.3_Missense_Mutation_p.V799M	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	951					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCATCCCACGGTGAAGATCAA	0.488000														114			27		0	0	1	0	0
FBXO16	157574	broad.mit.edu	37	8	28309794	28309794	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:28309794T>C	uc003xgu.3	-	5	805	c.707A>G	c.(706-708)gAc>gGc	p.D236G	ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Missense_Mutation_p.D223G	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	Homo sapiens F-box protein 16 (FBXO16), mRNA.	236										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GTCACGGTTGTCTAGGTAATT	0.413000														125			4		0	0	1	0	0
SGSH	6448	broad.mit.edu	37	17	78190941	78190941	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:78190941T>G	uc002jxz.4	-	1	226	c.139A>C	c.(139-141)Acc>Ccc	p.T47P	SGSH_uc002jya.4_5'UTR|SGSH_uc002jxy.2_Missense_Mutation_p.T47P|SGSH_uc010wue.1_Silent_p.P58P	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	47					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGTGCGGGGTGGCGATGGCG	0.662000														47			5		0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145598649	145598649	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:145598649A>T	uc003lnz.4	+	1	327	c.161A>T	c.(160-162)gAt>gTt	p.D54V	RBM27_uc003lny.2_Missense_Mutation_p.D54V	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	54					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCAACTTGATGTCTTTTTA	0.353000														63			27		0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105394159	105394159	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:105394159G>T	uc010tyl.1	+	2	419	c.261G>T	c.(259-261)tgG>tgT	p.W87C	PLD4_uc001ypu.1_Missense_Mutation_p.W80C	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	80					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	GCCCAGCTTGGGAGCCCCTGG	0.672000														25			15		1.15088e-07	1.1718e-07	1	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53644927	53644927	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:53644927C>G	uc002ehp.3	-	24	3717	c.3653G>C	c.(3652-3654)aGa>aCa	p.R1218T	RPGRIP1L_uc002eho.4_Missense_Mutation_p.R1138T|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R1172T|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R1184T|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R1172T	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	1218					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TAAGATGTCTCTCTTTGCTTT	0.333000														161			5		0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr13:50235160G>C	uc001vdg.3	-	3	628	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	189					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.L189V(18)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418000														91			5		0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101573954	101573954	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:101573954G>T	uc003dvp.3	+	6	1607	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	NFKBIZ_uc003dvo.3_Missense_Mutation_p.D398Y|NFKBIZ_uc010hpo.3_Missense_Mutation_p.D398Y|NFKBIZ_uc003dvq.3_Missense_Mutation_p.D376Y	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	498	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CATTGTGCAGGATCTGGTGAA	0.488000														250			45		6.56871e-35	7.5071e-35	1	1	0
WDFY4	57705	broad.mit.edu	37	10	50015972	50015972	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:50015972A>G	uc001jha.4	+	27	4884	c.4807A>G	c.(4807-4809)Ata>Gta	p.I1603V	WDFY4_uc001jhb.1_Missense_Mutation_p.I131V	NM_020945	NP_065996	Q6ZS81	WDFY4_HUMAN	Homo sapiens WDFY family member 4 (WDFY4), mRNA.	1603						integral to membrane	binding			NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GCTCAGTGTAATATCTTCCCC	0.443000														73			5		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987842	45987842	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr21:45987842C>T	uc002zfe.1	-	1	196	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	TSPEAR_uc010gpv.1_5'UTR	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	44					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCGCTTGTGGCGCCATCAGAA	0.597000														108			10		0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886020	57886020	+	Silent	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:57886020G>A	uc001nml.1	-	0	897	c.897C>T	c.(895-897)gaC>gaT	p.D299D	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D299Y(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TTCTGAAGGCGTCTTTTACAT	0.428000														68			44		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606363	6606363	+	Nonsense_Mutation	SNP	G	T	T	rs148755614	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:6606363G>T	uc002gdj.3	-	4	730	c.642C>A	c.(640-642)taC>taA	p.Y214*	SLC13A5_uc010clq.3_Nonsense_Mutation_p.Y171*|SLC13A5_uc002gdk.3_Nonsense_Mutation_p.Y197*|SLC13A5_uc010vtf.2_Nonsense_Mutation_p.Y214*|SLC13A5_uc002gdl.1_Nonsense_Mutation_p.Y196*	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	214						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGCTGGCCGCGTAGCAGATGC	0.622000														66			7		0.00307968	0.00307968	1	1	0
KDM2A	22992	broad.mit.edu	37	11	67022407	67022407	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:67022407A>T	uc001ojw.3	+	20	4234	c.3370A>T	c.(3370-3372)Atc>Ttc	p.I1124F	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.I818F|KDM2A_uc010rpn.2_Missense_Mutation_p.I685F|KDM2A_uc001ojz.1_3'UTR|KDM2A_uc001oka.3_Missense_Mutation_p.I248F|KDM2A_uc021qme.1_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	1124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CGTCACCTTGATCGACCTTCG	0.502000														75			55		0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136341	64136341	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:64136341C>A	uc001jmc.2	+	1	704	c.389C>A	c.(388-390)aCt>aAt	p.T130N	ZNF365_uc001jly.4_Missense_Mutation_p.T145N|ZNF365_uc001jmb.4_Missense_Mutation_p.T130N|ZNF365_uc001jlz.4_Missense_Mutation_p.T130N|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	189										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAGACCTACACTGCCATGGAC	0.527000														16			21		1.01871e-10	1.07638e-10	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84132706	84132706	+	Missense_Mutation	SNP	G	A	A	rs150244031	by1000genomes	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:84132706G>A	uc002fhi.3	-	2	875	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	125					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCGTGACCCGTTTGATGTTT	0.418000														192			10		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825479	26825479	+	Silent	SNP	A	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:26825479A>T	uc001zbb.3	-	6	940	c.837T>A	c.(835-837)gtT>gtA	p.V279V	GABRB3_uc021sgg.1_Silent_p.V152V|GABRB3_uc021sgh.1_Silent_p.V138V|GABRB3_uc001zaz.3_Silent_p.V223V|GABRB3_uc001zba.3_Silent_p.V223V	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	223					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.G279R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGCGAAGACAACATTCCTCG	0.557000														59			37		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13049583	13049583	+	Silent	SNP	A	G	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr18:13049583A>G	uc010xac.2	+	15	2873	c.2793A>G	c.(2791-2793)agA>agG	p.R931R	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.R456R|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Silent_p.R672R	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	526										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGATAACAGAGAAAATCAGA	0.383000														135			4		0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245021520	245021520	+	Silent	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:245021520G>A	uc001iaz.1	-	6	1505	c.1287C>T	c.(1285-1287)ggC>ggT	p.G429G	HNRNPU_uc001iay.1_Silent_p.G153G|HNRNPU_uc001iba.1_Silent_p.G410G	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	429	B30.2/SPRY.				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding	p.N405_K417delNGQDLGVAFKISK(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TGAAGGCAACGCCAAGATCTT	0.403000														163			4		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106970992	106970992	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:106970992T>C	uc001kyi.1	+	16	2586	c.2359T>C	c.(2359-2361)Tac>Cac	p.Y787H	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	787						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGTCAAAGCTACCTTAACAG	0.468000														89			4		0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94808322	94808322	+	Silent	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:94808322C>T	uc011ltv.1	-	11	1133	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	SPTLC1_uc004arl.1_Silent_p.V365V			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	365						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTTCCTTCAACACTGCAAAAA	0.308000														83			4		0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75783993	75783993	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:75783993C>T	uc004ajf.1	+	11	981	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C	ANXA1_uc004ajg.1_Missense_Mutation_p.R303C	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	303					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	p.R303S(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TATGGTTTCCCGTTCTGAAAT	0.388000														119			73		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5489408	5489408	+	Nonsense_Mutation	SNP	G	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:5489408G>T	uc003jdm.4	+	18	6988	c.6766G>T	c.(6766-6768)Gaa>Taa	p.E2256*		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	2256										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGCCTAGAGGAAGTCAGTGC	0.522000														50			43		2.31418e-15	2.54106e-15	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57767954	57767954	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:57767954C>T	uc002yan.3	+	0	1880	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	627						intracellular	nucleic acid binding|zinc ion binding	p.T627T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGATGAGACGTTCAAAAGG	0.592000														48			7		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373450	56373450	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:56373450C>T	uc002qmd.4	+	4	2533	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M	NLRP4_uc002qmf.3_Missense_Mutation_p.T629M|NLRP4_uc010etf.3_Missense_Mutation_p.T535M	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	704							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCACCCTCACGAAACTCTCT	0.463000														150			14		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	171890935	171890935	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:171890935T>C	uc001gie.3	+	1	385	c.209T>C	c.(208-210)gTg>gCg	p.V70A	DNM3_uc001gid.4_Missense_Mutation_p.V70A|DNM3_uc009wwb.2_Missense_Mutation_p.V70A|DNM3_uc001gif.3_Missense_Mutation_p.V70A	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	70					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGACCTCTTGTGCTGCAGCTT	0.448000														22			58		0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235138	50235138	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr13:50235138T>G	uc001vdg.3	-	3	650	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	196					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.Q196P(4)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GGTTTCTTTCTGATGCATTTT	0.383000														100			5		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342723	36342723	+	Missense_Mutation	SNP	G	A	A	rs150180768		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:36342723G>A	uc002oby.3	-	0	173	c.17C>T	c.(16-18)aCg>aTg	p.T6M		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	6					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCCTGAGCGTCGTCCCCAG	0.637000														77			49		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220473923	220473923	+	Silent	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:220473923C>T	uc002vml.3	+	15	1990	c.1947C>T	c.(1945-1947)caC>caT	p.H649H	STK11IP_uc010zll.2_Silent_p.H606H|STK11IP_uc002vmm.1_Silent_p.H638H	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	649					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGATGCCCACGCAGCTGTCC	0.652000														112			6		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755470	39755470	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr21:39755470G>A	uc010gnw.3	-	11	1611	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.A432V|ERG_uc011aek.2_Missense_Mutation_p.A340V|ERG_uc010gnv.3_Missense_Mutation_p.A316V|ERG_uc010gnx.3_Missense_Mutation_p.A415V|ERG_uc011ael.2_Missense_Mutation_p.A439V|ERG_uc002yxb.3_Missense_Mutation_p.A415V	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	439					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AGGGTGGGGCGCCACAAAGTT	0.572000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									73			61		0	0	1	0	0
PLEKHB1	58473	broad.mit.edu	37	11	73360070	73360070	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:73360070C>A	uc001oua.3	+	1	463	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	PLEKHB1_uc001oub.3_Missense_Mutation_p.S11Y|PLEKHB1_uc010rrh.1_5'UTR|PLEKHB1_uc001ouc.3_5'UTR|PLEKHB1_uc001oud.3_5'UTR|PLEKHB1_uc009ytq.3_5'UTR	NM_021200	NP_001123506	Q9UF11	PKHB1_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 1 (PLEKHB1), transcript variant 1, mRNA.	11					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CCGCCTGACTCCGCTCTGGAA	0.662000														42			33		1.06647e-15	1.19445e-15	1	1	0
PYGL	5836	broad.mit.edu	37	14	51375670	51375670	+	Silent	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:51375670G>A	uc001wyu.3	-	17	2308	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	PYGL_uc010tqq.2_Silent_p.Y693Y	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	727					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CTTTTGCCTCGTACCTGTGGG	0.433000														131			5		0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884930	36884930	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:36884930C>T	uc002ody.1	-	4	547	c.312G>A	c.(310-312)atG>atA	p.M104I		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAATTCTTTCCATTATCTTCC	0.328000														115			9		0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5254675	5254675	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:5254675C>T	uc001ihw.2	+	5	700	c.667C>T	c.(667-669)Cga>Tga	p.R223*		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	223					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	GGGAACCCAACGACATAAACT	0.393000														188			19		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20522512	20522512	+	Silent	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr12:20522512G>A	uc001reh.2	+	0	334	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	98	Poly-Ala.				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A98V(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGGCGGCGGCGGAGGAGGAGG	0.741000														19			10		0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25415322	25415322	+	Silent	SNP	G	A	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:25415322G>A	uc003gro.3	+	21	1710	c.1581G>A	c.(1579-1581)agG>agA	p.R527R	ANAPC4_uc003grp.3_Silent_p.R413R|ANAPC4_uc003grq.3_5'UTR	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	527					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTGTGAAAAGGCGGATGGAGA	0.353000														156			5		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18725567	18725567	+	Silent	SNP	T	C	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:18725567T>C	uc003wza.3	-	3	1354	c.1251A>G	c.(1249-1251)caA>caG	p.Q417Q		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	417					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CGTGCTCCTCTTGTTCGCTGA	0.423000														94			4		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73617514	73617514	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:73617514C>T	uc002avp.3	-	5	2754	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	587					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CACCAGCTTCCGACAGTTAAA	0.612000														76			41		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31355089	31355089	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:31355089C>G	uc001wqr.2	+	10	1128	c.1048C>G	c.(1048-1050)Ctg>Gtg	p.L350V	COCH_uc001wqp.2_Missense_Mutation_p.L350V|COCH_uc001wqq.4_Missense_Mutation_p.L350V|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Missense_Mutation_p.L201V	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	350					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGTACAGAAGCTGTGCACTCA	0.448000														102			78		0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71366962	71366963	+	In_Frame_Ins	INS	-	AGG	AGG			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:71366962_71366963insAGG	uc002sht.2	+	5	1630_1631	c.1278_1279insAGG	c.(1276-1281)insAGG	p.426_427insR		NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	426					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	p.L425M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTCAACTGGAAGATATCATTAA	0.337													---	10	---	---	21	---					
PCGF1	84759	broad.mit.edu	37	2	74734182	74734183	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:74734182_74734183delCT	uc002slz.3	-	1	211_212	c.185_186delAG	c.(184-186)gagfs	p.E62fs	PCGF1_uc002sly.3_5'UTR	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN	Homo sapiens polycomb group ring finger 1 (PCGF1), mRNA.	62	No repressor activity.				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	p.V61V(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TATGAAGACACTCTGTGATGGT	0.515													---	45	---	---	117	---					
PXK	54899	broad.mit.edu	37	3	58395318	58395318	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:58395318delA	uc003djz.1	+	14	1467	c.1368delA	c.(1366-1368)agafs	p.R456fs	PXK_uc003djx.1_Frame_Shift_Del_p.R456fs|PXK_uc003dka.1_Frame_Shift_Del_p.R456fs|PXK_uc003dkb.1_Frame_Shift_Del_p.R373fs|PXK_uc003dkc.1_Frame_Shift_Del_p.R439fs|PXK_uc011bfe.1_Frame_Shift_Del_p.R423fs|PXK_uc010hnj.1_Frame_Shift_Del_p.R423fs|PXK_uc003dkd.1_Frame_Shift_Del_p.R319fs|PXK_uc010hnk.1_Frame_Shift_Del_p.R230fs	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	456	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGGAGGAAAGAAAAAAAAGAA	0.418													---	113	---	---	7	---					
DSPP	1834	broad.mit.edu	37	4	88536147	88536155	+	In_Frame_Del	DEL	ACAGCAGCA	-	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:88536147_88536155delACAGCAGCA	uc003hqu.3	+	4	2453_2461	c.2333_2341delACAGCAGCA	c.(2332-2343)gacagcagcaac>gac	p.SSN779del		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	779	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gatagtagtgacagcagcaacagcagtga	0.502													---	401	---	---	7	---					
DIMT1	27292	broad.mit.edu	37	5	61699551	61699570	+	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	-	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:61699551_61699570delCCTGCCGCCCGCGGCGGCGG	uc003jta.3	-	0	159_178	c.30_49delCCGCCGCCGCGGGCGGCAGG	c.(28-51)ggccgccgccgcgggcggcaggagfs	p.G10fs	DIMT1_uc011cqq.1_Frame_Shift_Del_p.G10fs	NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	Homo sapiens DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) (DIMT1), mRNA.	10						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity										CGGCGCTGCTCCTGCCGCCCGCGGCGGCGGCCGATGGCCC	0.705													---	12	---	---	14	---					
EPHA1	2041	broad.mit.edu	37	7	143095693	143095693	+	Splice_Site	DEL	C	-	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:143095693delC	uc003wcz.3	-	6	1423	c.1336_splice	c.e6+1	p.E446_splice		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	446	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGCCTCTCACCTGCATGCCC	0.547													---	39	---	---	21	---					
CLDN23	137075	broad.mit.edu	37	8	8560233	8560234	+	Frame_Shift_Ins	INS	-	T	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:8560233_8560234insT	uc003wsi.3	+	0	568_569	c.325_326insT	c.(325-327)cccfs	p.P109fs		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	Homo sapiens claudin 23 (CLDN23), mRNA.	109					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GCAGGACGAGCCCAACTTCGTG	0.703													---	4	---	---	2	---					
CHD2	1106	broad.mit.edu	37	15	93480819	93480819	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:93480819delA	uc002bsp.3	+	5	1090	c.515delA	c.(514-516)caafs	p.Q172fs	CHD2_uc002bsm.2_Frame_Shift_Del_p.Q172fs|CHD2_uc002bsn.3_Frame_Shift_Del_p.Q172fs|CHD2_uc002bso.1_Frame_Shift_Del_p.Q172fs|CHD2_uc010urb.2_Frame_Shift_Del_p.Q185fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	172					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGCCAGAACAAAAAAAAGTA	0.418													---	126	---	---	7	---					
